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GAMT guanidinoacetate N-methyltransferase [ Homo sapiens (human) ]

Gene ID: 2593, updated on 3-Jun-2018
Official Symbol
GAMTprovided by HGNC
Official Full Name
guanidinoacetate N-methyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:4136
See related
Ensembl:ENSG00000130005 MIM:601240; Vega:OTTHUMG00000180095
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PIG2; CCDS2; TP53I2; HEL-S-20
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]
Expression
Broad expression in liver (RPKM 37.8), pancreas (RPKM 12.2) and 15 other tissues See more
Orthologs
See GAMT in Genome Data Viewer
Location:
19p13.3
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (1397026..1401570, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (1397025..1401569, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene transfer RNA-Asn (GTT) 2-6 Neighboring gene NADH:ubiquinone oxidoreductase core subunit S7 Neighboring gene DAZ associated protein 1 Neighboring gene ribosomal protein S15

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
S-adenosylmethionine-dependent methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
guanidinoacetate N-methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
guanidinoacetate N-methyltransferase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
methyltransferase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
S-adenosylhomocysteine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
S-adenosylmethionine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
animal organ morphogenesis IEA
Inferred from Electronic Annotation
more info
 
creatine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
creatine biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
creatine biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
creatine metabolic process TAS
Traceable Author Statement
more info
 
methylation IEA
Inferred from Electronic Annotation
more info
 
muscle contraction TAS
Traceable Author Statement
more info
PubMed 
regulation of multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Preferred Names
guanidinoacetate N-methyltransferase
Names
epididymis secretory protein Li 20
NP_000147.1
NP_620279.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009785.1 RefSeqGene

    Range
    4984..9528
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000156.5NP_000147.1  guanidinoacetate N-methyltransferase isoform a

    See identical proteins and their annotated locations for NP_000147.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the longer transcript but encodes the shorter isoform (a).
    Source sequence(s)
    AC005329, BC016760
    Consensus CDS
    CCDS12064.1
    UniProtKB/Swiss-Prot
    Q14353
    UniProtKB/TrEMBL
    V9HWB2
    Related
    ENSP00000252288.1, OTTHUMP00000263323, ENST00000252288.7, OTTHUMT00000449739
    Conserved Domains (1) summary
    cd02440
    Location:63166
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
  2. NM_138924.2NP_620279.1  guanidinoacetate N-methyltransferase isoform b

    See identical proteins and their annotated locations for NP_620279.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks the 3'-most exon and fails to utilize the 3' splice donor site of the penultimate exon as compared to transcript variant 1. As a result, variant 2 encodes isoform b, which is longer and contains a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AC005329, AK289465, BM994704
    Consensus CDS
    CCDS45897.1
    UniProtKB/Swiss-Prot
    Q14353
    Related
    ENSP00000403536.2, OTTHUMP00000263324, ENST00000447102.8, OTTHUMT00000449740
    Conserved Domains (1) summary
    cd02440
    Location:63166
    AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    1397026..1401570 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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