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

Gene ID: 2593, updated on 6-Jul-2014
Official Symbol
GAMTprovided by HGNC
Official Full Name
guanidinoacetate N-methyltransferaseprovided by HGNC
Primary source
HGNC:4136
See related
Ensembl:ENSG00000130005; HPRD:03142; 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]
See GAMT in Epigenomics, MapViewer
Location:
19p13.3
Exon count :
6
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) Neighboring gene DAZ associated protein 1 Neighboring gene ribosomal protein S15

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
guanidinoacetate N-methyltransferase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
methyltransferase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cellular nitrogen compound metabolic process TAS
Traceable Author Statement
more info
 
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 
organ morphogenesis IEA
Inferred from Electronic Annotation
more info
 
regulation of multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
 
Preferred Names
guanidinoacetate N-methyltransferase
Names
guanidinoacetate N-methyltransferase
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 

    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 proteins identical to 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, OTTHUMP00000263323, ENST00000252288, OTTHUMT00000449739
    Conserved Domains (1) summary
    cd02440
    Location:63166
    Blast Score: 148
    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 proteins identical to 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
    Conserved Domains (1) summary
    cd02440
    Location:63166
    Blast Score: 147
    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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000019.10 

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

Alternate HuRef

Genomic

  1. AC_000151.1 

    Range
    1171878..1176401
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 

    Range
    1397126..1401670
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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