Name

GART Gene

phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase

The protein encoded by this gene is a trifunctional polypeptide. It has phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase activity which is required for de novo purine biosynthesis. This enzyme is highly conserved in vertebrates. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

ACSS3 Gene

acyl-CoA synthetase short-chain family member 3

ACSS2 Gene

acyl-CoA synthetase short-chain family member 2

This gene encodes a cytosolic enzyme that catalyzes the activation of acetate for use in lipid synthesis and energy generation. The protein acts as a monomer and produces acetyl-CoA from acetate in a reaction that requires ATP. Expression of this gene is regulated by sterol regulatory element-binding proteins, transcription factors that activate genes required for the synthesis of cholesterol and unsaturated fatty acids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]

ACSS1 Gene

acyl-CoA synthetase short-chain family member 1

This gene encodes a mitochondrial acetyl-CoA synthetase enzyme. A similar protein in mice plays an important role in the tricarboxylic acid cycle by catalyzing the conversion of acetate to acetyl CoA. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

ASS1P4 Gene

argininosuccinate synthetase 1 pseudogene 4

NARSP1 Gene

asparaginyl-tRNA synthetase pseudogene 1

NARSP2 Gene

asparaginyl-tRNA synthetase pseudogene 2

PAICSP3 Gene

phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 3

PAICSP2 Gene

phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 2

PAICSP1 Gene

phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 1

PAICSP7 Gene

phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 7

PAICSP6 Gene

phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 6

PAICSP5 Gene

phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 5

PAICSP4 Gene

phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 4

LIAS Gene

lipoic acid synthetase

The protein encoded by this gene belongs to the biotin and lipoic acid synthetases family. It localizes in mitochondrion and plays an important role in alpha-(+)-lipoic acid synthesis. It may also function in the sulfur insertion chemistry in lipoate biosynthesis. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]

TYMS Gene

thymidylate synthetase

Thymidylate synthase catalyzes the methylation of deoxyuridylate to deoxythymidylate using 5,10-methylenetetrahydrofolate (methylene-THF) as a cofactor. This function maintains the dTMP (thymidine-5-prime monophosphate) pool critical for DNA replication and repair. The enzyme has been of interest as a target for cancer chemotherapeutic agents. It is considered to be the primary site of action for 5-fluorouracil, 5-fluoro-2-prime-deoxyuridine, and some folate analogs. Expression of this gene and that of a naturally occuring antisense transcript rTSalpha (GeneID:55556) vary inversely when cell-growth progresses from late-log to plateau phase. [provided by RefSeq, Jul 2008]

MARS2 Gene

methionyl-tRNA synthetase 2, mitochondrial

This gene produces a mitochondrial methionyl-tRNA synthetase protein that is encoded by the nuclear genome and imported to the mitochondrion. This protein likely functions as a monomer and is predicted to localize to the mitochondrial matrix. Mutations in this gene are associated with the autosomal recessive neurodegenerative disease spastic ataxia-3 (SPAX3). [provided by RefSeq, Apr 2014]

AACSP1 Gene

acetoacetyl-CoA synthetase pseudogene 1

PROSC Gene

proline synthetase co-transcribed homolog (bacterial)

ACSBG1 Gene

acyl-CoA synthetase bubblegum family member 1

The protein encoded by this gene possesses long-chain acyl-CoA synthetase activity. It is thought to play a central role in brain very long-chain fatty acids metabolism and myelinogenesis. [provided by RefSeq, Jul 2008]

ACSBG2 Gene

acyl-CoA synthetase bubblegum family member 2

IARS2P1 Gene

isoleucyl-tRNA synthetase 2, mitochondrial pseudogene 1

WARS2P1 Gene

tryptophanyl tRNA synthetase 2 pseudogene 1

AARS Gene

alanyl-tRNA synthetase

The human alanyl-tRNA synthetase (AARS) belongs to a family of tRNA synthases, of the class II enzymes. Class II tRNA synthases evolved early in evolution and are highly conserved. This is reflected by the fact that 498 of the 968-residue polypeptide human AARS shares 41% identity witht the E.coli protein. tRNA synthases are the enzymes that interpret the RNA code and attach specific aminoacids to the tRNAs that contain the cognate trinucleotide anticodons. They consist of a catalytic domain which interacts with the amino acid acceptor-T psi C helix of the tRNA, and a second domain which interacts with the rest of the tRNA structure. [provided by RefSeq, Jul 2008]

NADSYN1 Gene

NAD synthetase 1

Nicotinamide adenine dinucleotide (NAD) is a coenzyme in metabolic redox reactions, a precursor for several cell signaling molecules, and a substrate for protein posttranslational modifications. NAD synthetase (EC 6.3.5.1) catalyzes the final step in the biosynthesis of NAD from nicotinic acid adenine dinucleotide (NaAD).[supplied by OMIM, Apr 2004]

ASNSP6 Gene

asparagine synthetase (glutamine-hydrolyzing) pseudogene 6

ASNSP5 Gene

asparagine synthetase pseudogene 5

ASNSP4 Gene

asparagine synthetase pseudogene 4

ASNSP3 Gene

asparagine synthetase pseudogene 3

ASNSP2 Gene

asparagine synthetase pseudogene 2

ASNSP1 Gene

asparagine synthetase pseudogene 1

CARS2 Gene

cysteinyl-tRNA synthetase 2, mitochondrial (putative)

This gene encodes a putative member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of cysteine to tRNA molecules. A splice-site mutation in this gene has been associated with a novel progressive myoclonic epilepsy disease with similar symptoms to MERRF syndrome. [provided by RefSeq, Mar 2015]

VARS2 Gene

valyl-tRNA synthetase 2, mitochondrial

This gene encodes a mitochondrial aminoacyl-tRNA synthetase, which catalyzes the attachment of valine to tRNA(Val) for mitochondrial translation. Mutations in this gene cause combined oxidative phosphorylation deficiency-20, and are also associated with early-onset mitochondrial encephalopathies. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2014]

ASS1P14 Gene

argininosuccinate synthetase 1 pseudogene 14

ASS1P10 Gene

argininosuccinate synthetase 1 pseudogene 10

ASS1P11 Gene

argininosuccinate synthetase 1 pseudogene 11

ASS1P12 Gene

argininosuccinate synthetase 1 pseudogene 12

ASS1P13 Gene

argininosuccinate synthetase 1 pseudogene 13

ACSM5P1 Gene

acyl-CoA synthetase medium-chain family member 5 pseudogene 1

GARS Gene

glycyl-tRNA synthetase

This gene encodes glycyl-tRNA synthetase, one of the aminoacyl-tRNA synthetases that charge tRNAs with their cognate amino acids. The encoded enzyme is an (alpha)2 dimer which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. [provided by RefSeq, Jul 2008]

PRPS1P2 Gene

phosphoribosyl pyrophosphate synthetase 1 pseudogene 2

RARS Gene

arginyl-tRNA synthetase

Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Arginyl-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family. [provided by RefSeq, Jul 2008]

EPRS Gene

glutamyl-prolyl-tRNA synthetase

Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a multifunctional aminoacyl-tRNA synthetase that catalyzes the aminoacylation of glutamic acid and proline tRNA species. Alternative splicing has been observed for this gene, but the full-length nature and biological validity of the variant have not been determined. [provided by RefSeq, Jul 2008]

HARS Gene

histidyl-tRNA synthetase

Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a cytoplasmic enzyme which belongs to the class II family of aminoacyl-tRNA synthetases. The enzyme is responsible for the synthesis of histidyl-transfer RNA, which is essential for the incorporation of histidine into proteins. The gene is located in a head-to-head orientation with HARSL on chromosome five, where the homologous genes share a bidirectional promoter. The gene product is a frequent target of autoantibodies in the human autoimmune disease polymyositis/dermatomyositis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

AARSD1 Gene

alanyl-tRNA synthetase domain containing 1

LOC100421308 Gene

phosphoribosyl pyrophosphate synthetase 2 pseudogene

DARS Gene

aspartyl-tRNA synthetase

This gene encodes a member of a multienzyme complex that functions in mediating the attachment of amino acids to their cognate tRNAs. The encoded protein ligates L-aspartate to tRNA(Asp). Mutations in this gene have been found in patients showing hypomyelination with brainstem and spinal cord involvement and leg spasticity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

CARSP1 Gene

cysteinyl-tRNA synthetase pseudogene 1

GARSP1 Gene

glycyl-tRNA synthetase pseudogene 1

ACSF2 Gene

acyl-CoA synthetase family member 2

ACSF3 Gene

acyl-CoA synthetase family member 3

This gene encodes a member of the acyl-CoA synthetase family of enzymes that activate fatty acids by catalyzing the formation of a thioester linkage between fatty acids and coenzyme A. The encoded protein is localized to mitochondria, has high specificity for malonate and methylmalonate and possesses malonyl-CoA synthetase activity. Mutations in this gene are a cause of combined malonic and methylmalonic aciduria. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Sep 2013]

FARSBP1 Gene

phenylalanyl-tRNA synthetase, beta subunit pseudogene 1

TARS2 Gene

threonyl-tRNA synthetase 2, mitochondrial (putative)

This gene encodes a member of the class-II aminoacyl-tRNA synthetase family. The encoded protein is a mitochondrial aminoacyl-tRNA synthetase. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 4. [provided by RefSeq, Dec 2012]

PRORSD1P Gene

prolyl-tRNA synthetase associated domain containing 1, pseudogene

KARS Gene

lysyl-tRNA synthetase

Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Lysyl-tRNA synthetase is a homodimer localized to the cytoplasm which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ACSM1 Gene

acyl-CoA synthetase medium-chain family member 1

ACSM3 Gene

acyl-CoA synthetase medium-chain family member 3

ACSM5 Gene

acyl-CoA synthetase medium-chain family member 5

ACSM4 Gene

acyl-CoA synthetase medium-chain family member 4

ACSM6 Gene

acyl-CoA synthetase medium-chain family member 6

PPCS Gene

phosphopantothenoylcysteine synthetase

Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in prokaryotes and eukaryotes. PPCS (EC 6.3.2.5), one of the last enzymes in this pathway, converts phosphopantothenate to phosphopantothenoylcysteine (Daugherty et al., 2002 [PubMed 11923312]).[supplied by OMIM, Mar 2008]

MTHFSD Gene

methenyltetrahydrofolate synthetase domain containing

WARS Gene

tryptophanyl-tRNA synthetase

Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of tryptophanyl-tRNA synthetase exist, a cytoplasmic form, named WARS, and a mitochondrial form, named WARS2. Tryptophanyl-tRNA synthetase (WARS) catalyzes the aminoacylation of tRNA(trp) with tryptophan and is induced by interferon. Tryptophanyl-tRNA synthetase belongs to the class I tRNA synthetase family. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

TARS2P1 Gene

threonyl-tRNA synthetase 2, mitochondrial pseudogene

PRPS1P1 Gene

phosphoribosyl pyrophosphate synthetase 1 pseudogene 1

HARS2 Gene

histidyl-tRNA synthetase 2, mitochondrial

Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is an enzyme belonging to the class II family of aminoacyl-tRNA synthetases. Functioning in the synthesis of histidyl-transfer RNA, the enzyme plays an accessory role in the regulation of protein biosynthesis. The gene is located in a head-to-head orientation with HARS on chromosome five, where the homologous genes likely share a bidirectional promoter. Mutations in this gene are associated with the pathogenesis of Perrault syndrome, which involves ovarian dysgenesis and sensorineural hearing loss. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]

SEPHS2P1 Gene

selenophosphate synthetase 2 pseudogene 1

ACSM2A Gene

acyl-CoA synthetase medium-chain family member 2A

ACSM2B Gene

acyl-CoA synthetase medium-chain family member 2B

LANCL2 Gene

LanC lantibiotic synthetase component C-like 2 (bacterial)

LANCL3 Gene

LanC lantibiotic synthetase component C-like 3 (bacterial)

LANCL1 Gene

LanC lantibiotic synthetase component C-like 1 (bacterial)

This gene encodes a loosely associated peripheral membrane protein related to the LanC family of bacterial membrane-associated proteins involved in the biosynthesis of antimicrobial peptides. This protein may play a role as a peptide-modifying enzyme component in eukaryotic cells. Previously considered a member of the G-protein-coupled receptor superfamily, this protein is now in the LanC family. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2008]

WARS2 Gene

tryptophanyl tRNA synthetase 2, mitochondrial

Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of tryptophanyl-tRNA synthetase exist, a cytoplasmic form, named WARS, and a mitochondrial form, named WARS2. This gene encodes the mitochondrial tryptophanyl-tRNA synthetase. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

LOC100421400 Gene

alanyl-tRNA synthetase domain containing 1 pseudogene

GMPSP1 Gene

guanine monphosphate synthetase pseudogene 1

FARS2 Gene

phenylalanyl-tRNA synthetase 2, mitochondrial

Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. This gene encodes a phenylalanine-tRNA synthetase (PheRS) localized to the mitochondrion which consists of a single polypeptide chain, unlike the (alpha-beta)2 structure of the prokaryotic and eukaryotic cytoplasmic forms of PheRS. Structure analysis and catalytic properties indicate mitochondrial PheRSs may constitute a class of PheRS distinct from the enzymes found in prokaryotes and in the eukaryotic cytoplasm. [provided by RefSeq, Jul 2008]

FARSB Gene

phenylalanyl-tRNA synthetase, beta subunit

This gene encodes a highly conserved enzyme that belongs to the aminoacyl-tRNA synthetase class IIc subfamily. This enzyme comprises the regulatory beta subunits that form a tetramer with two catalytic alpha subunits. In the presence of ATP, this tetramer is responsible for attaching L-phenylalanine to the terminal adenosine of the appropriate tRNA. A pseudogene located on chromosome 10 has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

FARSA Gene

phenylalanyl-tRNA synthetase, alpha subunit

Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. This gene encodes a product which is similar to the catalytic subunit of prokaryotic and Saccharomyces cerevisiae phenylalanyl-tRNA synthetases (PheRS). This gene product has been shown to be expressed in a tumor-selective and cell cycle stage- and differentiation-dependent manner, the first member of the tRNA synthetase gene family shown to exhibit this type of regulated expression [provided by RefSeq, Jul 2008]

RNASEL Gene

ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)

This gene encodes a component of the interferon-regulated 2-5A system that functions in the antiviral and antiproliferative roles of interferons. Mutations in this gene have been associated with predisposition to prostate cancer and this gene is a candidate for the hereditary prostate cancer 1 (HPC1) allele. [provided by RefSeq, Jul 2008]

AARS2 Gene

alanyl-tRNA synthetase 2, mitochondrial

The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA synthetases play critical roles in mRNA translation by charging tRNAs with their cognate amino acids. The encoded protein is a mitochondrial enzyme that specifically aminoacylates alanyl-tRNA. Mutations in this gene are a cause of combined oxidative phosphorylation deficiency 8. [provided by RefSeq, Dec 2011]

SEPHS1P6 Gene

selenophosphate synthetase 1 pseudogene 6

ASNS Gene

asparagine synthetase (glutamine-hydrolyzing)

The protein encoded by this gene is involved in the synthesis of asparagine. This gene complements a mutation in the temperature-sensitive hamster mutant ts11, which blocks progression through the G1 phase of the cell cycle at nonpermissive temperature. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010]

PRPS2 Gene

phosphoribosyl pyrophosphate synthetase 2

This gene encodes a phosphoribosyl pyrophosphate synthetase that plays a central role in the synthesis of purines and pyrimidines. The encoded protein catalyzes the synthesis of 5-phosphoribosyl 1-pyrophosphate from ATP and D-ribose 5-phosphate. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

PRPS1 Gene

phosphoribosyl pyrophosphate synthetase 1

This gene encodes an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Defects in this gene are a cause of phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease X-linked recessive type 5 and Arts Syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]

LOC100420983 Gene

acyl-CoA synthetase medium-chain family member 6 pseudogene

LOC100421294 Gene

phosphoribosyl pyrophosphate synthetase 2 pseudogene

SARS2 Gene

seryl-tRNA synthetase 2, mitochondrial

This gene encodes the mitochondrial seryl-tRNA synthethase precursor, a member of the class II tRNA synthetase family. The mature enzyme catalyzes the ligation of Serine to tRNA(Ser) and participates in the biosynthesis of selenocysteinyl-tRNA(sec) in mitochondria. The enzyme contains an N-terminal tRNA binding domain and a core catalytic domain. It functions in a homodimeric form, which is stabilized by tRNA binding. This gene is regulated by a bidirectional promoter that also controls the expression of mitochondrial ribosomal protein S12. Both genes are within the critical interval for the autosomal dominant deafness locus DFNA4 and might be linked to this disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Mar 2009]

MTHFS Gene

5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)

The protein encoded by this gene is an enzyme that catalyzes the conversion of 5-formyltetrahydrofolate to 5,10-methenyltetrahydrofolate, a precursor of reduced folates involved in 1-carbon metabolism. An increased activity of the encoded protein can result in an increased folate turnover rate and folate depletion. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]

LOC100130673 Gene

phosphoribosyl pyrophosphate synthetase 2 pseudogene

VARS Gene

valyl-tRNA synthetase

Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. The protein encoded by this gene belongs to class-I aminoacyl-tRNA synthetase family and is located in the class III region of the major histocompatibility complex. [provided by RefSeq, Jul 2008]

SARS Gene

seryl-tRNA synthetase

This gene belongs to the class II amino-acyl tRNA family. The encoded enzyme catalyzes the transfer of L-serine to tRNA (Ser) and is related to bacterial and yeast counterparts. Multiple alternatively spliced transcript variants have been described but the biological validity of all variants is unknown. [provided by RefSeq, Jul 2010]

LOC100887080 Gene

acyl-CoA synthetase medium-chain family member 4 pseudogene

LOC100419610 Gene

thymidylate synthetase pseudogene

IARS Gene

isoleucyl-tRNA synthetase

Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAS, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Isoleucine-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family and has been identified as a target of autoantibodies in the autoimmune disease polymyositis/dermatomyositis. Alternatively spliced transcript variants have been found. [provided by RefSeq, Nov 2012]

CAD Gene

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

The de novo synthesis of pyrimidine nucleotides is required for mammalian cells to proliferate. This gene encodes a trifunctional protein which is associated with the enzymatic activities of the first 3 enzymes in the 6-step pathway of pyrimidine biosynthesis: carbamoylphosphate synthetase (CPS II), aspartate transcarbamoylase, and dihydroorotase. This protein is regulated by the mitogen-activated protein kinase (MAPK) cascade, which indicates a direct link between activation of the MAPK cascade and de novo biosynthesis of pyrimidine nucleotides. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]

LARS Gene

leucyl-tRNA synthetase

This gene encodes a cytosolic leucine-tRNA synthetase, a member of the class I aminoacyl-tRNA synthetase family. The encoded enzyme catalyzes the ATP-dependent ligation of L-leucine to tRNA(Leu). It is found in the cytoplasm as part of a multisynthetase complex and interacts with the arginine tRNA synthetase through its C-terminal domain. Alternatively spliced transcript variants of this gene have been found; however, their full-length nature is not known. [provided by RefSeq, Jul 2008]

LARS2 Gene

leucyl-tRNA synthetase 2, mitochondrial

This gene encodes a class 1 aminoacyl-tRNA synthetase, mitochondrial leucyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. [provided by RefSeq, Jul 2008]

AIMP1P1 Gene

aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 pseudogene 1

AIMP1P2 Gene

aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 pseudogene 2

FLJ43315 Gene

asparagine synthetase pseudogene

ASS1P8 Gene

argininosuccinate synthetase 1 pseudogene 8

ASS1P9 Gene

argininosuccinate synthetase 1 pseudogene 9

ASS1P6 Gene

argininosuccinate synthetase 1 pseudogene 6

ASS1P7 Gene

argininosuccinate synthetase 1 pseudogene 7

ASS1P5 Gene

argininosuccinate synthetase 1 pseudogene 5

ASS1P2 Gene

argininosuccinate synthetase 1 pseudogene 2

ASS1P3 Gene

argininosuccinate synthetase 1 pseudogene 3

ASS1P1 Gene

argininosuccinate synthetase 1 pseudogene 1

LOC101060199 Gene

acyl-coenzyme A synthetase ACSM6, mitochondrial-like

UMPS Gene

uridine monophosphate synthetase

This gene encodes a uridine 5'-monophosphate synthase. The encoded protein is a bifunctional enzyme that catalyzes the final two steps of the de novo pyrimidine biosynthetic pathway. The first reaction is carried out by the N-terminal enzyme orotate phosphoribosyltransferase which converts orotic acid to orotidine-5'-monophosphate. The terminal reaction is carried out by the C-terminal enzyme OMP decarboxylase which converts orotidine-5'-monophosphate to uridine monophosphate. Defects in this gene are the cause of hereditary orotic aciduria. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

SEPHS1P2 Gene

selenophosphate synthetase 1 pseudogene 2

SEPHS1P3 Gene

selenophosphate synthetase 1 pseudogene 3

QARS Gene

glutaminyl-tRNA synthetase

Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. In metazoans, 9 aminoacyl-tRNA synthetases specific for glutamine (gln), glutamic acid (glu), and 7 other amino acids are associated within a multienzyme complex. Although present in eukaryotes, glutaminyl-tRNA synthetase (QARS) is absent from many prokaryotes, mitochondria, and chloroplasts, in which Gln-tRNA(Gln) is formed by transamidation of the misacylated Glu-tRNA(Gln). Glutaminyl-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

LOC100421637 Gene

acyl-CoA synthetase long-chain family member 3 pseudogene

PAICS Gene

phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase

This gene encodes a bifunctional enzyme containing phosphoribosylaminoimidazole carboxylase activity in its N-terminal region and phosphoribosylaminoimidazole succinocarboxamide synthetase in its C-terminal region. It catalyzes steps 6 and 7 of purine biosynthesis. The gene is closely linked and divergently transcribed with a locus that encodes an enzyme in the same pathway, and transcription of the two genes is coordinately regulated. The human genome contains several pseudogenes of this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

YARS Gene

tyrosyl-tRNA synthetase

Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Tyrosyl-tRNA synthetase belongs to the class I tRNA synthetase family. Cytokine activities have also been observed for the human tyrosyl-tRNA synthetase, after it is split into two parts, an N-terminal fragment that harbors the catalytic site and a C-terminal fragment found only in the mammalian enzyme. The N-terminal fragment is an interleukin-8-like cytokine, whereas the released C-terminal fragment is an EMAP II-like cytokine. [provided by RefSeq, Jul 2008]

ASNSD1 Gene

asparagine synthetase domain containing 1

AACS Gene

acetoacetyl-CoA synthetase

HLCS Gene

holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)

This gene encodes an enzyme that catalyzes the binding of biotin to carboxylases and histones. The protein plays an important role in gluconeogenesis, fatty acid synthesis and branched chain amino acid catabolism. Defects in this gene are the cause of holocarboxylase synthetase deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jun 2011]

KARSP3 Gene

lysyl-tRNA synthetase pseudogene 3

KARSP2 Gene

lysyl-tRNA synthetase pseudogene 2

KARSP1 Gene

lysyl-tRNA synthetase pseudogene 1

TARS Gene

threonyl-tRNA synthetase

Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Threonyl-tRNA synthetase belongs to the class-II aminoacyl-tRNA synthetase family [provided by RefSeq, Jul 2008]

CARS Gene

cysteinyl-tRNA synthetase

This gene encodes a class 1 aminoacyl-tRNA synthetase, cysteinyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. This gene is one of several located near the imprinted gene domain on chromosome 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2010]

MTHFD1 Gene

methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase

This gene encodes a protein that possesses three distinct enzymatic activities, 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase. Each of these activities catalyzes one of three sequential reactions in the interconversion of 1-carbon derivatives of tetrahydrofolate, which are substrates for methionine, thymidylate, and de novo purine syntheses. The trifunctional enzymatic activities are conferred by two major domains, an aminoterminal portion containing the dehydrogenase and cyclohydrolase activities and a larger synthetase domain. [provided by RefSeq, Jul 2008]

NARS Gene

asparaginyl-tRNA synthetase

Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Asparaginyl-tRNA synthetase is localized to the cytoplasm and belongs to the class II family of tRNA synthetases. The N-terminal domain represents the signature sequence for the eukaryotic asparaginyl-tRNA synthetases. [provided by RefSeq, Jul 2008]

OAS1 Gene

2'-5'-oligoadenylate synthetase 1, 40/46kDa

This gene encodes a member of the 2-5A synthetase family, essential proteins involved in the innate immune response to viral infection. The encoded protein is induced by interferons and uses adenosine triphosphate in 2'-specific nucleotidyl transfer reactions to synthesize 2',5'-oligoadenylates (2-5As). These molecules activate latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. The three known members of this gene family are located in a cluster on chromosome 12. Mutations in this gene have been associated with host susceptibility to viral infection. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

OAS3 Gene

2'-5'-oligoadenylate synthetase 3, 100kDa

This gene encodes an enzyme included in the 2', 5' oligoadenylate synthase family. This enzyme is induced by interferons and catalyzes the 2', 5' oligomers of adenosine in order to bind and activate RNase L. This enzyme family plays a significant role in the inhibition of cellular protein synthesis and viral infection resistance. [provided by RefSeq, Jul 2008]

OAS2 Gene

2'-5'-oligoadenylate synthetase 2, 69/71kDa

This gene encodes a member of the 2-5A synthetase family, essential proteins involved in the innate immune response to viral infection. The encoded protein is induced by interferons and uses adenosine triphosphate in 2'-specific nucleotidyl transfer reactions to synthesize 2',5'-oligoadenylates (2-5As). These molecules activate latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. The three known members of this gene family are located in a cluster on chromosome 12. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

OASL Gene

2'-5'-oligoadenylate synthetase-like

PRPS1L1 Gene

phosphoribosyl pyrophosphate synthetase 1-like 1

This intronless gene is specifically expressed in the testis, and encodes a protein that is highly homologous to the two subunits of phosphoribosylpyrophosphate synthetase encoded by human X-linked genes, PRPS1 and PRPS2. These enzymes convert pyrimidine, purine or pyridine bases to the corresponding ribonucleoside monophosphates. In vitro transcription/translation and site-directed mutagenesis studies indicate that translation of this mRNA initiates exclusively at a non-AUG (ACG) codon. [provided by RefSeq, Jul 2008]

TARSL2 Gene

threonyl-tRNA synthetase-like 2

PARS2 Gene

prolyl-tRNA synthetase 2, mitochondrial (putative)

This gene encodes a putative member of the class II family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of proline to tRNA molecules. Mutations have been found in this gene in some patients with Alpers syndrome. [provided by RefSeq, Mar 2015]

EARS2 Gene

glutamyl-tRNA synthetase 2, mitochondrial

This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of glutamate to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 12 (COXPD12). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]

RARS2 Gene

arginyl-tRNA synthetase 2, mitochondrial

The protein encoded by this gene is an arginyl-tRNA synthetase that is found in the mitochondrial matrix. Defects in this gene are a cause of pontocerebellar hypoplasia type 6 (PCH6). [provided by RefSeq, Oct 2008]

MARS Gene

methionyl-tRNA synthetase

This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. The encoded protein is a component of the multi-tRNA synthetase complex and catalyzes the ligation of methionine to tRNA molecules. [provided by RefSeq, Jan 2011]

YARS2 Gene

tyrosyl-tRNA synthetase 2, mitochondrial

This gene encodes a mitochondrial protein that catalyzes the attachment of tyrosine to tRNA(Tyr). Mutations in this gene are associated with myopathy with lactic acidosis and sideroblastic anemia type 2 (MLASA2). [provided by RefSeq, Jan 2011]

NARS2 Gene

asparaginyl-tRNA synthetase 2, mitochondrial (putative)

This gene encodes a putative member of the class II family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of asparagine to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 24 (COXPD24). [provided by RefSeq, Mar 2015]

GSS Gene

glutathione synthetase

Glutathione is important for a variety of biological functions, including protection of cells from oxidative damage by free radicals, detoxification of xenobiotics, and membrane transport. The protein encoded by this gene functions as a homodimer to catalyze the second step of glutathione biosynthesis, which is the ATP-dependent conversion of gamma-L-glutamyl-L-cysteine to glutathione. Defects in this gene are a cause of glutathione synthetase deficiency. [provided by RefSeq, Jul 2008]

CMAS Gene

cytidine monophosphate N-acetylneuraminic acid synthetase

Sialic acids are a family of nine-carbon sugars on cell surface glycoproteins and glycolipids that play a pivotal role in determining the structure and function of many animal tissues. The pattern of cell surface sialylation is highly regulated during embryonic development and N-glycosylation is a common post-translational modification during cellular differentiation. Sialic acids play important roles in cell-cell communications and immune responses. Sialylated glycoprotein and glycolipid formation requires the activation of a sialic acid to a cytidine monophosphate (CMP) diester by the enzyme encoded by this gene: CMP-N-acetylneuraminic acid synthetase. [provided by RefSeq, Jul 2012]

LGSN Gene

lengsin, lens protein with glutamine synthetase domain

This gene encodes a protein with similarity to the GS I members of the glutamine synthetase superfamily. The encoded protein is referred to as a pseudo-glutamine synthetase because it has no glutamine synthesis activity and may function as a chaperone protein. This protein is localized to the lens and may be associated with cataract disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]

GLULP1 Gene

glutamate-ammonia ligase (glutamine synthetase) pseudogene 1

GLULP2 Gene

glutamate-ammonia ligase (glutamine synthetase) pseudogene 2

GLULP3 Gene

glutamate-ammonia ligase (glutamine synthetase) pseudogene 3

GLULP4 Gene

glutamate-ammonia ligase (glutamine synthetase) pseudogene 4

GLULP5 Gene

glutamate-ammonia ligase (glutamine synthetase) pseudogene 5

GLULP6 Gene

glutamate-ammonia ligase (glutamine synthetase) pseudogene 6

WARSP1 Gene

tryptophanyl-tRNA synthetase pseudogene 1

SEPHS1P4 Gene

selenophosphate synthetase 1 pseudogene 4

SEPHS1P7 Gene

selenophosphate synthetase 1 pseudogene 7

SEPHS1P1 Gene

selenophosphate synthetase 1 pseudogene 1

AIMP2 Gene

aminoacyl tRNA synthetase complex-interacting multifunctional protein 2

The JTV1 gene is located on chromosome 7p22 flanked by two genes, HRI and PMS2. JTV1 and HRI overlap slightly and are arranged in a tail-to-tail fashion. JTV1 and PMS2 are separated by approximately 200 base pairs and are arranged head-to-head. JTV1 is transcribed in the opposite direction compared to HRI and PMS2. The function of the JTV1 gene product is unknown. [provided by RefSeq, Jul 2008]

AIMP1 Gene

aminoacyl tRNA synthetase complex-interacting multifunctional protein 1

The protein encoded by this gene is a cytokine that is specifically induced by apoptosis, and it is involved in the control of angiogenesis, inflammation, and wound healing. The release of this cytokine renders the tumor-associated vasculature sensitive to tumor necrosis factor. The precursor protein is identical to the p43 subunit, which is associated with the multi-tRNA synthetase complex, and it modulates aminoacylation activity of tRNA synthetase in normal cells. This protein is also involved in the stimulation of inflammatory responses after proteolytic cleavage in tumor cells. Multiple transcript variants encoding different isoforms have been found for this gene. A pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2008]

SEPHS2 Gene

selenophosphate synthetase 2

This gene encodes an enzyme that synthesizes selenophosphate from selenide and ATP. Selenophosphate is the selenium donor used to synthesize selenocysteine, which is co-translationally incorporated into selenoproteins at in-frame UGA codons. Genes encoding selenocysteine contain a stem-loop secondary structure in their 3' UTR called a selenocysteine insertion sequence (SECIS) element. The protein encoded by this gene contains a selenocysteine residue in its predicted active site. There is a pseudogene for this gene on chromosome 5. [provided by RefSeq, Aug 2013]

SEPHS1 Gene

selenophosphate synthetase 1

This gene encodes an enzyme that synthesizes selenophosphate from selenide and ATP. Selenophosphate is the selenium donor used to synthesize selenocysteine, which is co-translationally incorporated into selenoproteins at in-frame UGA codons. [provided by RefSeq, Sep 2010]

IARS2 Gene

isoleucyl-tRNA synthetase 2, mitochondrial

Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAS, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of isoleucine-tRNA synthetase exist, a cytoplasmic form and a mitochondrial form. This gene encodes the mitochondrial isoleucine-tRNA synthetase which belongs to the class-I aminoacyl-tRNA synthetase family. [provided by RefSeq, Dec 2014]

ACSL3 Gene

acyl-CoA synthetase long-chain family member 3

The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme is highly expressed in brain, and preferentially utilizes myristate, arachidonate, and eicosapentaenoate as substrates. The amino acid sequence of this isozyme is 92% identical to that of rat homolog. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

ACSL1 Gene

acyl-CoA synthetase long-chain family member 1

The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

ACSL6 Gene

acyl-CoA synthetase long-chain family member 6

The protein encoded by this gene catalyzes the formation of acyl-CoA from fatty acids, ATP, and CoA, using magnesium as a cofactor. The encoded protein plays a major role in fatty acid metabolism in the brain. Translocations with the ETV6 gene are causes of myelodysplastic syndrome with basophilia, acute myelogenous leukemia with eosinophilia, and acute eosinophilic leukemia. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2011]

ACSL4 Gene

acyl-CoA synthetase long-chain family member 4

The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme preferentially utilizes arachidonate as substrate. The absence of this enzyme may contribute to the mental retardation or Alport syndrome. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]

ACSL5 Gene

acyl-CoA synthetase long-chain family member 5

The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme is highly expressed in uterus and spleen, and in trace amounts in normal brain, but has markedly increased levels in malignant gliomas. This gene functions in mediating fatty acid-induced glioma cell growth. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

FLAD1 Gene

flavin adenine dinucleotide synthetase 1

This gene encodes the enzyme that catalyzes adenylation of flavin mononucleotide (FMN) to form flavin adenine dinucleotide (FAD) coenzyme. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

RARSP1 Gene

arginyl-tRNA synthetase pseudogene 1

LOC100422408 Gene

LanC lantibiotic synthetase component C-like 3 (bacterial) pseudogene

PRPSAP1 Gene

phosphoribosyl pyrophosphate synthetase-associated protein 1

PRPSAP2 Gene

phosphoribosyl pyrophosphate synthetase-associated protein 2

This gene encodes a protein that associates with the enzyme phosphoribosylpyrophosphate synthetase (PRS). PRS catalyzes the formation of phosphoribosylpyrophosphate which is a substrate for synthesis of purine and pyrimidine nucleotides, histidine, tryptophan and NAD. PRS exists as a complex with two catalytic subunits and two associated subunits. This gene encodes a non-catalytic associated subunit of PRS. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]

DARS2 Gene

aspartyl-tRNA synthetase 2, mitochondrial

The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. It is a mitochondrial enzyme that specifically aminoacylates aspartyl-tRNA. Mutations in this gene are associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL). [provided by RefSeq, Nov 2009]

Phosphoribosylpyrophosphate synthetase superactivity Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Phosphoribosylpyrophosphate synthetase superactivity phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Phosphoribosylpyrophosphate Synthetase Superactivity Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Phosphoribosylpyrophosphate Synthetase Superactivity from the curated CTD Gene-Disease Associations dataset.

phosphoribosylpyrophosphate synthetase superactivity Gene Set

From OMIM Gene-Disease Associations

genes associated with the phosphoribosylpyrophosphate synthetase superactivity phenotype from the curated OMIM Gene-Disease Associations dataset.

Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Hypoglycemia with deficiency of glycogen synthetase in the liver Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Hypoglycemia with deficiency of glycogen synthetase in the liver phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Holocarboxylase synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Holocarboxylase synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Pyruvate dehydrogenase lipoic acid synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Pyruvate dehydrogenase lipoic acid synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Gluthathione synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Gluthathione synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Asparagine synthetase deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Asparagine synthetase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

aminoacyl-trna synthetase multienzyme complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the aminoacyl-trna synthetase multienzyme complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

enterobactin synthetase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the enterobactin synthetase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

aminoacyl-trna synthetase multienzyme complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the aminoacyl-trna synthetase multienzyme complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

Succinyl-CoA synthetase, GDP-forming Gene Set

From CORUM Protein Complexes

proteins in the Succinyl-CoA synthetase, GDP-forming protein complex from the CORUM Protein Complexes dataset.

Succinyl-CoA synthetase, ADP-forming Gene Set

From CORUM Protein Complexes

proteins in the Succinyl-CoA synthetase, ADP-forming protein complex from the CORUM Protein Complexes dataset.

Glutathione synthetase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glutathione synthetase deficiency from the curated CTD Gene-Disease Associations dataset.

Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Glutathione Synthetase Deficiency of Erythrocytes, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.

Holocarboxylase Synthetase Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Holocarboxylase Synthetase Deficiency from the curated CTD Gene-Disease Associations dataset.

N-acetyl glutamate synthetase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease N-acetyl glutamate synthetase deficiency from the curated CTD Gene-Disease Associations dataset.

Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to from the curated CTD Gene-Disease Associations dataset.

holocarboxylase synthetase deficiency Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease holocarboxylase synthetase deficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

carbamoyl phosphate synthetase i deficiency disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease carbamoyl phosphate synthetase i deficiency disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

holocarboxylase synthetase deficiency Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease holocarboxylase synthetase deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

synthetase Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term synthetase in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

aminoacyl-trna synthetase multienzyme complex Gene Set

From GO Cellular Component Annotations

proteins localized to the aminoacyl-trna synthetase multienzyme complex cellular component from the curated GO Cellular Component Annotations dataset.

malonyl-coa synthetase activity Gene Set

From GO Molecular Function Annotations

genes performing the malonyl-coa synthetase activity molecular function from the curated GO Molecular Function Annotations dataset.

2'-5'-oligoadenylate synthetase activity Gene Set

From GO Molecular Function Annotations

genes performing the 2'-5'-oligoadenylate synthetase activity molecular function from the curated GO Molecular Function Annotations dataset.

glutathione synthetase deficiency Gene Set

From HPO Gene-Disease Associations

genes associated with the glutathione synthetase deficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Glutaminyl-tRNA synthetase, class Ib, non-specific RNA-binding domain 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glutaminyl-tRNA synthetase, class Ib, non-specific RNA-binding domain 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

S-adenosylmethionine synthetase, central domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the S-adenosylmethionine synthetase, central domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glutamyl/glutaminyl-tRNA synthetase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glutamyl/glutaminyl-tRNA synthetase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phenylalanyl-tRNA synthetase, B3/B4 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phenylalanyl-tRNA synthetase, B3/B4 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

GMP synthetase ATP pyrophosphatase domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the GMP synthetase ATP pyrophosphatase domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Zinc finger, DNA glycosylase/AP lyase/isoleucyl tRNA synthetase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Zinc finger, DNA glycosylase/AP lyase/isoleucyl tRNA synthetase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Methionyl-tRNA synthetase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Methionyl-tRNA synthetase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glutamyl/glutaminyl-tRNA synthetase, class Ib, anti-codon binding domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glutamyl/glutaminyl-tRNA synthetase, class Ib, anti-codon binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Folylpolyglutamate synthetase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Folylpolyglutamate synthetase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phenylalanyl-tRNA synthetase, class IIc, alpha subunit Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phenylalanyl-tRNA synthetase, class IIc, alpha subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phosphoribosylglycinamide synthetase, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phosphoribosylglycinamide synthetase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ribosomal protein L25/Gln-tRNA synthetase, beta-barrel domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ribosomal protein L25/Gln-tRNA synthetase, beta-barrel domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Prolyl-tRNA synthetase, class IIa, bacterial-type Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Prolyl-tRNA synthetase, class IIa, bacterial-type protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Alanyl-tRNA synthetase, class IIc, core domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Alanyl-tRNA synthetase, class IIc, core domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Aminoacyl-tRNA synthetase, class II (D/K/N) Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Aminoacyl-tRNA synthetase, class II (D/K/N) protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Leucyl-tRNA synthetase, class Ia, archaeal/eukaryotic cytosolic Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Leucyl-tRNA synthetase, class Ia, archaeal/eukaryotic cytosolic protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Arginyl tRNA synthetase N-terminal domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Arginyl tRNA synthetase N-terminal domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Delta l-pyrroline-5-carboxylate synthetase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Delta l-pyrroline-5-carboxylate synthetase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phosphoribosyl pyrophosphate synthetase, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phosphoribosyl pyrophosphate synthetase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phosphoribosylglycinamide synthetase, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phosphoribosylglycinamide synthetase, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glutamine-dependent NAD(+) synthetase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glutamine-dependent NAD(+) synthetase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Aminoacyl-tRNA synthetase, class 1a, anticodon-binding Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Aminoacyl-tRNA synthetase, class 1a, anticodon-binding protein domain from the InterPro Predicted Protein Domain Annotations dataset.

SAICAR synthetase, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the SAICAR synthetase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Adenylosuccinate synthetase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Adenylosuccinate synthetase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phenylalanyl-tRNA synthetase, class IIc, mitochondrial Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phenylalanyl-tRNA synthetase, class IIc, mitochondrial protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Aminoacyl-tRNA synthetase, class II (D/K/N)-like Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Aminoacyl-tRNA synthetase, class II (D/K/N)-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

S-adenosylmethionine synthetase superfamily Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the S-adenosylmethionine synthetase superfamily protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Serine-tRNA synthetase, type1, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Serine-tRNA synthetase, type1, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phenylalanyl-tRNA synthetase, class IIc, beta subunit, archae/euk cytosolic Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phenylalanyl-tRNA synthetase, class IIc, beta subunit, archae/euk cytosolic protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phosphoribosylglycinamide synthetase, C-domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phosphoribosylglycinamide synthetase, C-domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Threonyl/alanyl tRNA synthetase, SAD Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Threonyl/alanyl tRNA synthetase, SAD protein domain from the InterPro Predicted Protein Domain Annotations dataset.

ATP-grasp fold, succinyl-CoA synthetase-type Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the ATP-grasp fold, succinyl-CoA synthetase-type protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Lanthionine synthetase C-like Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Lanthionine synthetase C-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glutamine-tRNA synthetase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glutamine-tRNA synthetase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Aspartyl/Asparaginyl-tRNA synthetase, class IIb Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Aspartyl/Asparaginyl-tRNA synthetase, class IIb protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Aminoacyl-tRNA synthetase, class I, anticodon-binding Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Aminoacyl-tRNA synthetase, class I, anticodon-binding protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phosphoribosylglycinamide synthetase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phosphoribosylglycinamide synthetase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Valyl/Leucyl/Isoleucyl-tRNA synthetase, editing domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Valyl/Leucyl/Isoleucyl-tRNA synthetase, editing domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Succinyl-CoA synthetase, beta subunit, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Succinyl-CoA synthetase, beta subunit, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Methionyl/Leucyl tRNA synthetase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Methionyl/Leucyl tRNA synthetase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Aminoacyl-tRNA synthetase, class I, anticodon-binding domain, subdomain 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Aminoacyl-tRNA synthetase, class I, anticodon-binding domain, subdomain 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

S-adenosylmethionine synthetase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the S-adenosylmethionine synthetase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glutamine synthetase, glycine-rich site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glutamine synthetase, glycine-rich site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glutaminyl-tRNA synthetase, class Ib, non-specific RNA-binding domain, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glutaminyl-tRNA synthetase, class Ib, non-specific RNA-binding domain, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

2-5-oligoadenylate synthetase, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the 2-5-oligoadenylate synthetase, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Methionyl/Valyl/Leucyl/Isoleucyl-tRNA synthetase, anticodon-binding Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Methionyl/Valyl/Leucyl/Isoleucyl-tRNA synthetase, anticodon-binding protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Succinyl-CoA synthetase, beta subunit Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Succinyl-CoA synthetase, beta subunit protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Aminoacyl-tRNA synthetase, class II Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Aminoacyl-tRNA synthetase, class II protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Aminoacyl-tRNA synthetase, class Ia Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Aminoacyl-tRNA synthetase, class Ia protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Aminoacyl-tRNA synthetase, class Ic Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Aminoacyl-tRNA synthetase, class Ic protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Methionyl-tRNA synthetase, Zn-domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Methionyl-tRNA synthetase, Zn-domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glutamyl-tRNA synthetase, archaeal/eukaryotic cytosolic Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glutamyl-tRNA synthetase, archaeal/eukaryotic cytosolic protein domain from the InterPro Predicted Protein Domain Annotations dataset.

OB-fold nucleic acid binding domain, AA-tRNA synthetase-type Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the OB-fold nucleic acid binding domain, AA-tRNA synthetase-type protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ribosomal protein L25/Gln-tRNA synthetase, anti-codon-binding domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ribosomal protein L25/Gln-tRNA synthetase, anti-codon-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Polyprenyl synthetase-related Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Polyprenyl synthetase-related protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glutamine synthetase/guanido kinase, catalytic domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glutamine synthetase/guanido kinase, catalytic domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phosphoribosylglycinamide synthetase, ATP-grasp (A) domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phosphoribosylglycinamide synthetase, ATP-grasp (A) domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cysteinyl-tRNA synthetase/mycothiol ligase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cysteinyl-tRNA synthetase/mycothiol ligase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

S-adenosylmethionine synthetase, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the S-adenosylmethionine synthetase, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Adenylosuccinate synthetase isozyme 2, chordates Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Adenylosuccinate synthetase isozyme 2, chordates protein domain from the InterPro Predicted Protein Domain Annotations dataset.

2'-5'-oligoadenylate synthetase 1, domain 2/C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the 2'-5'-oligoadenylate synthetase 1, domain 2/C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Lysyl-tRNA synthetase, class II, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Lysyl-tRNA synthetase, class II, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Alanyl-tRNA synthetase, class IIc, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Alanyl-tRNA synthetase, class IIc, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Aminoacyl-tRNA synthetase, class I, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Aminoacyl-tRNA synthetase, class I, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Succinyl-CoA synthetase-like Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Succinyl-CoA synthetase-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Adenylosuccinate synthetase isozyme 1, chordates Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Adenylosuccinate synthetase isozyme 1, chordates protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glutamine synthetase, N-terminal conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glutamine synthetase, N-terminal conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

SAICAR synthetase/ADE2, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the SAICAR synthetase/ADE2, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

NAD(+) synthetase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the NAD(+) synthetase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Prolyl-tRNA synthetase, class II Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Prolyl-tRNA synthetase, class II protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Carbamoyl-phosphate synthetase, large subunit oligomerisation domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Carbamoyl-phosphate synthetase, large subunit oligomerisation domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glycyl-tRNA synthetase/DNA polymerase subunit gamma-2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glycyl-tRNA synthetase/DNA polymerase subunit gamma-2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

S-adenosylmethionine synthetase, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the S-adenosylmethionine synthetase, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phenylalanyl-tRNA synthetase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phenylalanyl-tRNA synthetase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glutamine synthetase, catalytic domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glutamine synthetase, catalytic domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

tRNA synthetase, B5-domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the tRNA synthetase, B5-domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

S-adenosylmethionine synthetase, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the S-adenosylmethionine synthetase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Folylpolyglutamate synthetase, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Folylpolyglutamate synthetase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glutamine synthetase, beta-Grasp Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glutamine synthetase, beta-Grasp protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Polyprenyl synthetase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Polyprenyl synthetase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Selenophosphate synthetase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Selenophosphate synthetase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glycyl-tRNA synthetase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glycyl-tRNA synthetase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Argininosuccinate synthetase, catalytic/multimerisation domain body Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Argininosuccinate synthetase, catalytic/multimerisation domain body protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Glutamyl/glutaminyl-tRNA synthetase, class Ib, alpha-bundle domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glutamyl/glutaminyl-tRNA synthetase, class Ib, alpha-bundle domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

2-5-oligoadenylate synthetase, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the 2-5-oligoadenylate synthetase, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

AMP-dependent synthetase/ligase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the AMP-dependent synthetase/ligase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Histidyl tRNA synthetase-related domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Histidyl tRNA synthetase-related domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

FAD synthetase with the MoaB/Mog domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the FAD synthetase with the MoaB/Mog domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

pyruvate dehydrogenase lipoic acid synthetase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the pyruvate dehydrogenase lipoic acid synthetase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

glutathione synthetase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the glutathione synthetase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

hemolytic anemia due to glutathione synthetase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the hemolytic anemia due to glutathione synthetase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

holocarboxylase synthetase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the holocarboxylase synthetase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

carbamoylphosphate synthetase i deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the carbamoylphosphate synthetase i deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

asparagine synthetase deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the asparagine synthetase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) Gene Set

From Reactome Pathways

proteins participating in the Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) pathway from the Reactome Pathways dataset.

Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) Gene Set

From Reactome Pathways

proteins participating in the Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) pathway from the Reactome Pathways dataset.