InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GAMT

Summary

InnateDB Protein

IDBP-362131.5

Last Modified

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

Gene Symbol

GAMT

Protein Name

guanidinoacetate N-methyltransferase

Synonyms

CCDS2; HEL-S-20; PIG2; TP53I2;

Species

Homo sapiens

Ensembl Protein

ENSP00000403536

InnateDB Gene

IDBG-14390 (GAMT)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

Disease Associations

Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]: An autosomal recessive disorder characterized by developmental delay and regression, mental retardation, severe disturbance of expressive and cognitive speech, intractable seizures, movement disturbances, severe depletion of creatine and phosphocreatine in the brain, and accumulation of guanidinoacetic acid in brain and body fluids. {ECO:0000269PubMed:12468279, ECO:0000269PubMed:15108290, ECO:0000269PubMed:15651030, ECO:0000269PubMed:16293431, ECO:0000269PubMed:17101918, ECO:0000269PubMed:8651275}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in liver. {ECO:0000269PubMed:8651275}.

Comments

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