Entity Details

Primary name GAMT_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ14353
EntryNameGAMT_HUMAN
FullNameGuanidinoacetate N-methyltransferase
TaxID9606
Evidenceevidence at protein level
Length236
SequenceStatuscomplete
DateCreated1997-11-01
DateModified2021-06-02

Ontological Relatives

GenesGAMT

GO terms

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GOName
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0006600 creatine metabolic process
GO:0006601 creatine biosynthetic process
GO:0006936 muscle contraction
GO:0007283 spermatogenesis
GO:0008168 methyltransferase activity
GO:0008757 S-adenosylmethionine-dependent methyltransferase activity
GO:0009887 animal organ morphogenesis
GO:0030731 guanidinoacetate N-methyltransferase activity
GO:0032259 methylation
GO:0040014 regulation of multicellular organism growth

Subcellular Location

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Domains

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DomainNameCategoryType
IPR016550 Guanidinoacetate N-methyltransferaseFamilyFamily
IPR026480 Arginine N-methyltransferase 2-like domainDomainDomain
IPR029063 S-adenosyl-L-methionine-dependent methyltransferaseFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
612736 OMIMCerebral creatine deficiency syndrome 2 (CCDS2)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. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00148 CreatineDrugbanksmall molecule
DB00536 GuanidineDrugbanksmall molecule
DB01752 S-adenosyl-L-homocysteineDrugbanksmall molecule
DB02751 GlycocyamineDrugbanksmall molecule
DB13191 PhosphocreatineDrugbanksmall molecule

Interactions

7 interactions