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GAMT

GENERAL INFORMATION

Gene name

 GAMT

Gene description

 Guanidinoacetate N-methyltransferase

Protein class

 Disease related genes
Enzymes
FDA approved drug targets
Plasma proteins
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 3
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic and membranous expression in several tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data.

Reliability score

 Approved based on 1 antibody.
HPA051806
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 GAMT (HGNC Symbol)

Synonyms

 PIG2, TP53I2

Description

 Guanidinoacetate N-methyltransferase (HGNC Symbol)

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]

Chromosome

 19

Cytoband

 p13.3

Chromosome location (bp)

 1397084 - 1401570

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000130005 (version 83.38)

Entrez gene

 2593

UniProt

 Q14353 (UniProt - Evidence at protein level)

neXtProt

 NX_Q14353

Antibodypedia

 GAMT antibodies

PROTEIN BROWSER
GAMT-001
GAMT-002
GAMT-003

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
GAMT-001
ENSP00000252288
ENST00000252288
Q14353 [Direct mapping]
Guanidinoacetate N-methyltransferase
V9HWB2 [Target identity:100%; Query identity:100%]
Epididymis secretory protein Li 20; Guanidinoacetate N-methyltransferase, isoform CRA_b
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Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
Plasma proteins
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005829 [cytosol]
GO:0006595 [polyamine metabolic process]
GO:0006600 [creatine metabolic process]
GO:0006601 [creatine biosynthetic process]
GO:0006936 [muscle contraction]
GO:0008168 [methyltransferase activity]
GO:0030731 [guanidinoacetate N-methyltransferase activity]
GO:0032259 [methylation]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0070062 [extracellular exosome]
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 236 aa
26.3 kDa 		No 0
GAMT-002
ENSP00000403536
ENST00000447102
Q14353 [Direct mapping]
Guanidinoacetate N-methyltransferase
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Enzymes
   ENZYME proteins
   Transferases
   SCAMPI predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005829 [cytosol]
GO:0006595 [polyamine metabolic process]
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 [organ morphogenesis]
GO:0030731 [guanidinoacetate N-methyltransferase activity]
GO:0032259 [methylation]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0040014 [regulation of multicellular organism growth]
GO:0042803 [protein homodimerization activity]
GO:0044281 [small molecule metabolic process]
GO:0046498 [S-adenosylhomocysteine metabolic process]
GO:0046500 [S-adenosylmethionine metabolic process]
GO:0070062 [extracellular exosome]
GO:1990402 [embryonic liver development]
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 269 aa
29.4 kDa 		No 0
GAMT-003
ENSP00000466341
ENST00000591788
K7EM34 [Direct mapping]
Guanidinoacetate N-methyltransferase
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 108 aa
12.2 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.