Version 5.4
Homo sapiens Gene: GAMT
Summary
InnateDB Gene IDBG-14390.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GAMT
Gene Name guanidinoacetate N-methyltransferase
Synonyms CCDS2; HEL-S-20; PIG2; TP53I2
Species Homo sapiens
Ensembl Gene ENSG00000130005
Encoded Proteins
IDBP-14392
guanidinoacetate N-methyltransferase
IDBP-362131
guanidinoacetate N-methyltransferase
IDBP-761138
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. Two transcript variants encoding different isoforms have been described for this gene. Pseudogenes of this gene are found on chromosomes 2 and 13. [provided by RefSeq, Feb 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:1397084-1401570
Strand Reverse strand
Band p13.3
Transcripts
ENST00000252288 ENSP00000252288
ENST00000447102 ENSP00000403536
ENST00000591788 ENSP00000466341
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
Experimentally validated
Total 7 [view]
Protein-Protein 7 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0008168 methyltransferase activity
GO:0030731 guanidinoacetate N-methyltransferase activity
Biological Process
GO:0006600 creatine metabolic process
GO:0006601 creatine biosynthetic process
GO:0006936 muscle contraction
GO:0007283 spermatogenesis
GO:0009887 organ morphogenesis
GO:0032259 methylation
GO:0034641 cellular nitrogen compound metabolic process
GO:0040014 regulation of multicellular organism growth
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005829 cytosol
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000020150
View Gene Order
ENSBTAG00000004112
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
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.81131
RefSeq NM_000156 NM_138924
HUGO
OMIM
CCDS CCDS12064 CCDS45897
HPRD 03142
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca