GAMT

Protein identityUniProt · HPA

UniProt accession

Q14353

Gene

GAMT

Ensembl

ENSG00000130005

Chromosome

19

Canonical length

236 aa

Protein class

Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

236 residues, UniProt reviewed canonical sequence.

>Q14353|GAMT
     1  MSAPSATPIF APGENCSPAW GAAPAAYDAA DTHLRILGKP VMERWETPYM HALAAAASSK
    61  GGRVLEVGFG MAIAASKVQE APIDEHWIIE CNDGVFQRLR DWAPRQTHKV IPLKGLWEDV
   121  APTLPDGHFD GILYDTYPLS EETWHTHQFN FIKNHAFRLL KPGGVLTYCN LTSWGELMKS
   181  KYSDITIMFE ETQVPALLEA GFRRENIRTE VMALVPPADC RYYAFPQMIT PLVTKG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GAMT can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.24

Highest tissue expression

1,157 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GAMT.

Disease | AllUniProt

Conditions GAMT is implicated in, by any mechanism.

• Cerebral creatine deficiency syndrome 2 (CCDS2) MIM:612736

Disease | GeneticClinVar

146 pathogenic / likely-pathogenic of 710 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Deficiency of guanidinoacetate methyltransferase
• Cerebral creatine deficiency syndrome
• Inborn genetic diseases
• GAMT-related disorder
• See cases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.26

gnomAD pLI

0.01

gnomAD missense Z

-0.09

DepMap mean gene effect

-0.07

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• animal organ morphogenesis
• creatine biosynthetic process
• creatine metabolic process
• methylation
• muscle contraction
• regulation of multicellular organism growth
• spermatogenesis

Molecular functions

• methyltransferase activity
• guanidinoacetate N-methyltransferase activity

Cellular components

• cytoplasm
• cytosol
• nucleus

Protein domainsUniProt · Pfam · InterPro

• S-adenosyl-L-methionine-dependent methyltransferase superfamily
• Guanidinoacetate N-methyltransferase
• Arginine N-methyltransferase 2-like domain
• RMT2/GAMT Methyltransferase

KeywordsUniProt

• Acetylation
• Methyltransferase
• S-adenosyl-L-methionine
• Transferase