InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: GATM

Summary

InnateDB Gene

IDBG-10362.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GATM

Gene Name

glycine amidinotransferase (L-arginine:glycine amidinotransferase)

Synonyms

AGAT; AT; CCDS3

Species

Homo sapiens

Ensembl Gene

ENSG00000171766

Encoded Proteins

IDBP-237025

glycine amidinotransferase (L-arginine:glycine amidinotransferase)

IDBP-587421

glycine amidinotransferase (L-arginine:glycine amidinotransferase)

IDBP-593559

glycine amidinotransferase (L-arginine:glycine amidinotransferase)

IDBP-602265

glycine amidinotransferase (L-arginine:glycine amidinotransferase)

IDBP-602137

glycine amidinotransferase (L-arginine:glycine amidinotransferase)

IDBP-596052

glycine amidinotransferase (L-arginine:glycine amidinotransferase)

IDBP-599106

glycine amidinotransferase (L-arginine:glycine amidinotransferase)

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene encodes a mitochondrial enzyme that belongs to the amidinotransferase family. This enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting in guanidinoacetic acid, the immediate precursor of creatine. Mutations in this gene cause arginine:glycine amidinotransferase deficiency, an inborn error of creatine synthesis characterized by mental retardation, language impairment, and behavioral disorders. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 15:45361124-45402327

Strand

Reverse strand

Band

q21.1

Transcripts

ENST00000396659	ENSP00000379895
ENST00000558362
ENST00000558336	ENSP00000454008
ENST00000561376
ENST00000558916
ENST00000558163	ENSP00000453781
ENST00000558537	ENSP00000453151
ENST00000561148	ENSP00000453860
ENST00000559885	ENSP00000453087
ENST00000558118	ENSP00000452971
ENST00000560538

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0015067	amidinotransferase activity
GO:0015068	glycine amidinotransferase activity
GO:0016813	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines

Biological Process

GO:0006600	creatine metabolic process
GO:0006601	creatine biosynthetic process
GO:0006979	response to oxidative stress
GO:0007584	response to nutrient
GO:0010033	response to organic substance
GO:0034641	cellular nitrogen compound metabolic process
GO:0042246	tissue regeneration
GO:0043434	response to peptide hormone
GO:0044281	small molecule metabolic process
GO:0046689	response to mercury ion

Cellular Component

GO:0005739	mitochondrion
GO:0005743	mitochondrial inner membrane
GO:0005758	mitochondrial intermembrane space
GO:0070062	extracellular vesicular exosome

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000027199

View Gene Order

ENSBTAG00000005586

Not yet available

Pathways

NETPATH

REACTOME

REACT_813

Creatine metabolism pathway

REACT_13

Metabolism of amino acids and derivatives pathway

REACT_111217

Metabolism pathway

KEGG

hsa00330

Arginine and proline metabolism pathway

hsa00260

Glycine, serine and threonine metabolism pathway

INOH

INOH website

Arginine Proline metabolism pathway

INOH website

Glycine Serine metabolism pathway

PID NCI

Cross-References

SwissProt

P50440

TrEMBL

H0YKW9 H0YLC6 H0YN43

UniProt Splice Variant

Entrez Gene

2628

UniGene

Hs.613724 Hs.75335

RefSeq

NM_001482

HUGO

HGNC:4175

OMIM

602360

CCDS

CCDS10122

HPRD

03838

IMGT

EMBL

AC025580 AK223585 AK294995 AK298350 BC004141 S68805 X86401

GenPept

AAB29892 AAH04141 BAD97305 BAG58060 BAG60595 CAA60153

RNA Seq Atlas

102724493 2628