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    MTAP methylthioadenosine phosphorylase [ Homo sapiens (human) ]

    Gene ID: 4507, updated on 22-Sep-2021

    Summary

    Official Symbol
    MTAPprovided by HGNC
    Official Full Name
    methylthioadenosine phosphorylaseprovided by HGNC
    Primary source
    HGNC:HGNC:7413
    See related
    Ensembl:ENSG00000099810 MIM:156540
    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
    BDMF; MSAP; DMSFH; LGMBF; DMSMFH; c86fus; HEL-249
    Summary
    This gene encodes an enzyme that plays a major role in polyamine metabolism and is important for the salvage pathway of both adenine and methionine. The encoded enzyme is deficient in many cancers. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2021]
    Expression
    Ubiquitous expression in ovary (RPKM 5.5), esophagus (RPKM 5.2) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See MTAP in Genome Data Viewer
    Location:
    9p21.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (21802636..21867081)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (21802635..21867080)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene H3 histone pseudogene 30 Neighboring gene uncharacterized LOC107987026 Neighboring gene KH-type splicing regulatory protein pseudogene 1 Neighboring gene tubulin beta 8 class VIII pseudogene 1 Neighboring gene CDKN2A divergent transcript Neighboring gene cyclin dependent kinase inhibitor 2A Neighboring gene CDKN2B antisense RNA 1 Neighboring gene cyclin dependent kinase inhibitor 2B

    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?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease.
    GeneReviews: Not available
    Diaphyseal medullary stenosis-bone malignancy syndrome
    MedGen: C1862177 OMIM: 112250 GeneReviews: Not available
    Compare labs
    Genome-wide association study identifies three loci associated with melanoma risk.
    GeneReviews: Not available
    Genome-wide association study identifies three new melanoma susceptibility loci.
    GeneReviews: Not available
    Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi.
    GeneReviews: Not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2013-10-30)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2013-10-30)

    ClinGen Genome Curation Page

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 1,4-alpha-oligoglucan phosphorylase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables S-methyl-5-thioadenosine phosphorylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in L-methionine salvage from methylthioadenosine IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in L-methionine salvage from methylthioadenosine IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in methylation IEA
    Inferred from Electronic Annotation
    more info
     
    NOT involved_in nicotinamide riboside catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in nucleobase-containing compound metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in purine ribonucleoside salvage IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to testosterone IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    S-methyl-5'-thioadenosine phosphorylase
    Names
    5'-methylthioadenosine phosphorylase
    MTA phosphorylase
    MTAPase
    MeSAdo phosphorylase
    epididymis luminal protein 249
    epididymis secretory sperm binding protein
    NP_002442.2

    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_032650.2 RefSeqGene

      Range
      5001..69446
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001396040.1NP_001382969.1  S-methyl-5'-thioadenosine phosphorylase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL359922
    2. NM_001396041.1NP_001382970.1  S-methyl-5'-thioadenosine phosphorylase isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL359922, AL449423
    3. NM_001396042.1NP_001382971.1  S-methyl-5'-thioadenosine phosphorylase isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL359922, AL449423
    4. NM_001396043.1NP_001382972.1  S-methyl-5'-thioadenosine phosphorylase isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL359922, AL449423
    5. NM_001396044.1NP_001382973.1  S-methyl-5'-thioadenosine phosphorylase isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL359922, AL449423
    6. NM_001396045.1NP_001382974.1  S-methyl-5'-thioadenosine phosphorylase isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL359922, AL449423
    7. NM_002451.4NP_002442.2  S-methyl-5'-thioadenosine phosphorylase isoform 1

      See identical proteins and their annotated locations for NP_002442.2

      Status: REVIEWED

      Source sequence(s)
      AK024734, AL359922, BC026106, BG576334, BM994282, BQ220538, BQ232183, CA440131, L40432, U22233
      Consensus CDS
      CCDS6509.1
      UniProtKB/Swiss-Prot
      Q13126
      Related
      ENSP00000494373.1, ENST00000644715.2
      Conserved Domains (1) summary
      cd09010
      Location:12255
      MTAP_SsMTAPII_like_MTIP; 5'-deoxy-5'-methylthioadenosine phosphorylases (MTAP) similar to Sulfolobus solfataricus MTAPII and Pseudomonas aeruginosa PAO1 5'-methylthioinosine phosphorylase (MTIP)

    RNA

    1. NR_173242.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL359922

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

      Range
      21802636..21867081
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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