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

    Gene ID: 2593, updated on 27-May-2024

    Summary

    Official Symbol
    GAMTprovided by HGNC
    Official Full Name
    guanidinoacetate N-methyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:4136
    See related
    Ensembl:ENSG00000130005 MIM:601240; AllianceGenome:HGNC:4136
    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
    NEW
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    Genomic context

    See GAMT in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (1397026..1401542, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (1367024..1371540, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (1397025..1401541, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9705 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9706 Neighboring gene tRNA-Asn (anticodon GTT) 2-6 Neighboring gene NADH:ubiquinone oxidoreductase core subunit S7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13611 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13612 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9707 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9708 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9709 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9710 Neighboring gene DAZ associated protein 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1415933-1416526 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:1416527-1417121 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1423502-1424380 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1424381-1425259 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1434260-1434763 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:1438140-1439010 Neighboring gene ribosomal protein S15

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables guanidinoacetate N-methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables guanidinoacetate N-methyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables methyltransferase activity TAS
    Traceable Author Statement
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in animal organ morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in creatine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in creatine biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in creatine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in creatine metabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in methylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in muscle contraction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    guanidinoacetate N-methyltransferase
    Names
    epididymis secretory protein Li 20
    NP_000147.1
    NP_620279.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5012..9528
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000156.6NP_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
      A8K0A0, Q14353, Q53Y34, Q8WVJ1
      UniProtKB/TrEMBL
      A0A1W2PR36, V9HWB2
      Related
      ENSP00000252288.1, ENST00000252288.8
      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_138924.3NP_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. PMID:26003046 notes that protein expression was not detected for this variant by Western blot analysis using a GFP fusion construct and the experimental conditions reported in the publication.
      Source sequence(s)
      AC005329, AK289465, BM994704
      Consensus CDS
      CCDS45897.1
      UniProtKB/Swiss-Prot
      Q14353
      Related
      ENSP00000403536.2, ENST00000447102.8
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      1397026..1401542 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      1367024..1371540 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)