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    MTAP methylthioadenosine phosphorylase [ Homo sapiens (human) ]

    Gene ID: 4507, updated on 24-Apr-2016
    Official Symbol
    MTAPprovided by HGNC
    Official Full Name
    methylthioadenosine phosphorylaseprovided by HGNC
    Primary source
    HGNC:HGNC:7413
    See related
    Ensembl:ENSG00000099810 HPRD:01134; MIM:156540; Vega:OTTHUMG00000019690
    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 of both adenine and methionine. The encoded enzyme is deficient in many cancers because this gene and the tumor suppressor p16 gene are co-deleted. Multiple alternatively spliced transcript variants have been described for this gene, but their full-length natures remain unknown. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    9p21
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 9 NC_000009.12 (21802636..21865971)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (21802635..21941040)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene MIR31 host gene Neighboring gene microRNA 31 Neighboring gene KH-type splicing regulatory protein pseudogene 1 Neighboring gene tubulin beta 8 class VIII pseudogene 1 Neighboring gene endogenous retrovirus group FRD member 3 Neighboring gene CDKN2A antisense RNA 1 (head to head) Neighboring gene cyclin-dependent kinase inhibitor 2A

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease.
    NHGRI GWA Catalog
    Genome-wide association study identifies three loci associated with melanoma risk.
    NHGRI GWA Catalog
    Genome-wide association study identifies three new melanoma susceptibility loci.
    NHGRI GWA Catalog
    Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi.
    NHGRI GWA Catalog
    • Cysteine and methionine metabolism, organism-specific biosystem (from KEGG)
      Cysteine and methionine metabolism, organism-specific biosystemCysteine and methionine are sulfur-containing amino acids. Cysteine is synthesized from serine through different pathways in different organism groups. In bacteria and plants, cysteine is converted f...
    • Cysteine and methionine metabolism, conserved biosystem (from KEGG)
      Cysteine and methionine metabolism, conserved biosystemCysteine and methionine are sulfur-containing amino acids. Cysteine is synthesized from serine through different pathways in different organism groups. In bacteria and plants, cysteine is converted f...
    • L-methionine salvage cycle III, conserved biosystem (from BIOCYC)
      L-methionine salvage cycle III, conserved biosystemThe biosynthesis of several important metabolites involves the consumption of |FRAME: MET| through the utilization of |FRAME: S-ADENOSYLMETHIONINE| (SAM) in a reaction that releases |FRAME:5-METHYLTH...
    • Metabolic pathways, organism-specific biosystem (from KEGG)
      Metabolic pathways, organism-specific biosystem
      Metabolic pathways
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of amino acids and derivatives, organism-specific biosystem (from REACTOME)
      Metabolism of amino acids and derivatives, organism-specific biosystemThis group of reactions is responsible for: 1) the breakdown of amino acids; 2) the synthesis of urea from ammonia and amino groups generated by amino acid breakdown; 3) the synthesis of the ten amin...
    • Metabolism of polyamines, organism-specific biosystem (from REACTOME)
      Metabolism of polyamines, organism-specific biosystemPolyamines is a family of molecules (i.e. putrescine, spermine, spermidine) derived from ornithine according to a decarboxylation/condensative process. More recently, it has been demonstrated that ar...
    • Methionine salvage pathway, organism-specific biosystem (from REACTOME)
      Methionine salvage pathway, organism-specific biosystemMethionine salvage is a sequential pathway of six reactions that create methionine from 5'-methylthioadenosine (MTA) which is a byproduct of polyamine biosynthesis in nearly all organisms. The proces...
    • Methionine salvage pathway, organism-specific biosystem (from KEGG)
      Methionine salvage pathway, organism-specific biosystemPathway module; Nucleotide and amino acid metabolism; Cysteine and methionine metabolism
    • Methionine salvage pathway, conserved biosystem (from KEGG)
      Methionine salvage pathway, conserved biosystemPathway module; Nucleotide and amino acid metabolism; Cysteine and methionine metabolism
    • S-methyl-5'-thioadenosine degradation, organism-specific biosystem (from BIOCYC)
      S-methyl-5'-thioadenosine degradation, organism-specific biosystemGeneral Background : 5-METHYLTHIOADENOSINE (MTA) is a side product in the biosynthesis of several important compounds. An important case is polyamine synthesis, where : MET is consumed through the u...
    • S-methyl-5'-thioadenosine degradation II, conserved biosystem (from BIOCYC)
      S-methyl-5'-thioadenosine degradation II, conserved biosystemGeneral Background |FRAME: 5-METHYLTHIOADENOSINE| (MTA) is a side product in the biosynthesis of several important compounds. An important case is polyamine synthesis, where |FRAME: MET| is consumed...
    • Sulfur amino acid metabolism, organism-specific biosystem (from REACTOME)
      Sulfur amino acid metabolism, organism-specific biosystemThe main sulfur amino acids are methionine, cysteine, homocysteine and taurine. Of these, the first two are proteinogenic.This group of reactions contains all processes that 1) break down sulfur amin...
    • methionine salvage cycle III, organism-specific biosystem (from BIOCYC)
      methionine salvage cycle III, organism-specific biosystem
      methionine salvage cycle III
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    S-methyl-5-thioadenosine phosphorylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    S-methyl-5-thioadenosine phosphorylase activity TAS
    Traceable Author Statement
    more info
     
    phosphorylase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    L-methionine biosynthetic process from methylthioadenosine IEA
    Inferred from Electronic Annotation
    more info
     
    L-methionine biosynthetic process from methylthioadenosine TAS
    Traceable Author Statement
    more info
     
    methylation IEA
    Inferred from Electronic Annotation
    more info
     
    NOT nicotinamide riboside catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleobase-containing compound metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    purine ribonucleoside salvage IEA
    Inferred from Electronic Annotation
    more info
     
    purine-containing compound salvage IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    response to testosterone IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    S-methyl-5'-thioadenosine phosphorylase
    Names
    5'-methylthioadenosine phosphorylase
    MTA phosphorylase
    MTAP
    MTAPase
    MeSAdo phosphorylase
    epididymis luminal protein 249
    NP_002442.2

    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_032650.1 RefSeqGene

      Range
      5001..68336
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002451.3NP_002442.2  S-methyl-5'-thioadenosine phosphorylase

      See identical proteins and their annotated locations for NP_002442.2

      Status: REVIEWED

      Source sequence(s)
      AK024734, BC026106, BG576334, BM994282, BQ220538, BQ232183, CA440131, L40432, U22233
      Consensus CDS
      CCDS6509.1
      UniProtKB/Swiss-Prot
      Q13126
      Related
      ENSP00000369519, OTTHUMP00000021152, ENST00000380172, OTTHUMT00000051927
      Conserved Domains (2) summary
      COG0005
      Location:6258
      XapA; Purine nucleoside phosphorylase [Nucleotide transport and metabolism]
      cl00303
      Location:10273
      PNP_UDP_1; Phosphorylase superfamily

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p2 Primary Assembly

      Range
      21802636..21865971
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018920.2 Alternate CHM1_1.1

      Range
      21802515..21865858
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)