GAMT

Entrez 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].
UniProt Summary: Converts guanidinoacetate to creatine, using S- adenosylmethionine as the methyl donor (PubMed:26003046, PubMed:24415674, PubMed:26319512). Important in nervous system development (PubMed:24415674). {ECO:0000269|PubMed:24415674, ECO:0000269|PubMed:26003046, ECO:0000269|PubMed:26319512}.

Pfam Domains GO Terms

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Global Fraction of Cell Lines Where Essential: 0/739

Tissue	Fraction Of Cell Lines Where Essential
1290807.0	0/1
909776.0	0/1
bile duct	0/28
blood	0/28
bone	0/26
breast	0/33
central nervous system	0/56
cervix	0/4
colorectal	0/17
esophagus	0/13
fibroblast	0/1
gastric	0/16
kidney	0/21
liver	0/20
lung	0/75
lymphocyte	0/16
ovary	0/26
pancreas	0/24
peripheral nervous system	0/16
plasma cell	0/15
prostate	0/1
skin	0/24
soft tissue	0/9
thyroid	0/2
upper aerodigestive	0/22
urinary tract	0/29
uterus	0/5

Expression Distribution

guanidinoacetate N-methyltransferase activity
creatine biosynthetic process
S-adenosylhomocysteine metabolic process
creatine metabolic process
S-adenosylmethionine-dependent methyltransferase activity
S-adenosylmethionine metabolic process
cellular modified amino acid biosynthetic process
methyltransferase activity
purine ribonucleoside metabolic process
purine nucleoside metabolic process
regulation of multicellular organism growth
ribonucleoside metabolic process
nucleoside metabolic process
glycosyl compound metabolic process
monocarboxylic acid biosynthetic process
cellular modified amino acid metabolic process
alpha-amino acid metabolic process
coenzyme metabolic process
muscle contraction
muscle system process
carboxylic acid biosynthetic process
organic acid biosynthetic process
cellular amino acid metabolic process
methylation
regulation of developmental growth
sulfur compound metabolic process
purine-containing compound metabolic process
cofactor metabolic process
drug metabolic process
monocarboxylic acid metabolic process
nucleobase-containing small molecule metabolic process
spermatogenesis
male gamete generation
small molecule biosynthetic process
regulation of growth
gamete generation
multicellular organismal reproductive process
sexual reproduction
multicellular organism reproduction
carboxylic acid metabolic process