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
glycine amidinotransferase (L-arginine:glycine amidinotransferase)
glycine amidinotransferase (L-arginine:glycine amidinotransferase)
glycine amidinotransferase (L-arginine:glycine amidinotransferase)
glycine amidinotransferase (L-arginine:glycine amidinotransferase)
glycine amidinotransferase (L-arginine:glycine amidinotransferase)
glycine amidinotransferase (L-arginine:glycine amidinotransferase)
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
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
Metabolism of amino acids and derivatives pathway
Metabolism pathway
Creatine metabolism pathway
KEGG
Glycine, serine and threonine metabolism pathway
Arginine and proline metabolism pathway
INOH
Glycine Serine metabolism pathway
Arginine Proline metabolism pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL 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
GenPept
RNA Seq Atlas 102724493 2628