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    MTAP methylthioadenosine phosphorylase [ Homo sapiens (human) ]

    Gene ID: 4507, updated on 27-Nov-2024

    Summary

    Official Symbol
    MTAPprovided by HGNC
    Official Full Name
    methylthioadenosine phosphorylaseprovided by HGNC
    Primary source
    HGNC:HGNC:7413
    See related
    Ensembl:ENSG00000099810 MIM:156540; AllianceGenome:HGNC:7413
    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
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MTAP in Genome Data Viewer
    Location:
    9p21.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (21802636..21941115)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (21816863..21955417)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (21802635..21941114)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene H3 histone pseudogene 30 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:21684484-21685683 Neighboring gene uncharacterized LOC107987026 Neighboring gene RNA, 7SL, cytoplasmic 151, pseudogene Neighboring gene KH-type splicing regulatory protein pseudogene 1 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 9:21720826 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 9:21760452 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:21801514-21802144 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:21802145-21802773 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19809 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28241 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 9:21805208 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:21832108-21833307 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28243 Neighboring gene tubulin beta 8 class VIII pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19810 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 9:21959860 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 9:21962977 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:21968891-21969804 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19811 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19812 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28244 Neighboring gene CDKN2A antisense RNA 1 Neighboring gene uncharacterized LOC124902130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:21989455-21990037 Neighboring gene cyclin dependent kinase inhibitor 2A

    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
    Diaphyseal medullary stenosis-bone malignancy syndrome
    MedGen: C1862177 OMIM: 112250 GeneReviews: Not available
    not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2022-10-12)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2022-10-12)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease.
    EBI GWAS Catalog
    Genome-wide association study identifies three loci associated with melanoma risk.
    EBI GWAS Catalog
    Genome-wide association study identifies three new melanoma susceptibility loci.
    EBI GWAS Catalog
    Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi.
    EBI GWAS Catalog

    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 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
     
    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
     
    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
     
    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_001382969.1
    NP_001382970.1
    NP_001382971.1
    NP_001382972.1
    NP_001382973.1
    NP_001382974.1
    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
      Consensus CDS
      CCDS94392.1
      UniProtKB/TrEMBL
      B4DUC8, Q6FHP1, Q6FHT1
      Related
      ENSP00000461932.1, ENST00000460874.6
      Conserved Domains (1) summary
      cd09010
      Location:29272
      MTAP_SsMTAPII_like_MTIP; 5'-deoxy-5'-methylthioadenosine phosphorylases (MTAP) similar to Sulfolobus solfataricus MTAPII and Pseudomonas aeruginosa PAO1 5'-methylthioinosine phosphorylase (MTIP)
    2. NM_001396041.1NP_001382970.1  S-methyl-5'-thioadenosine phosphorylase isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL359922, AL449423
      Consensus CDS
      CCDS94391.1
      UniProtKB/TrEMBL
      Q6FHP1, Q6FHT1
      Related
      ENSP00000463424.1, ENST00000580900.5
      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)
    3. NM_001396042.1NP_001382971.1  S-methyl-5'-thioadenosine phosphorylase isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL359922, AL449423
      UniProtKB/TrEMBL
      A0A140CZL5
      Conserved Domains (1) summary
      cd09010
      Location:12229
      MTAP_SsMTAPII_like_MTIP; 5'-deoxy-5'-methylthioadenosine phosphorylases (MTAP) similar to Sulfolobus solfataricus MTAPII and Pseudomonas aeruginosa PAO1 5'-methylthioinosine phosphorylase (MTIP)
    4. NM_001396043.1NP_001382972.1  S-methyl-5'-thioadenosine phosphorylase isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL359922, AL449423
      UniProtKB/TrEMBL
      A0A140CZL4
      Related
      ENSP00000464616.1, ENST00000580718.1
      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)
    5. NM_001396044.1NP_001382973.1  S-methyl-5'-thioadenosine phosphorylase isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL359922, AL449423
      UniProtKB/TrEMBL
      Q6FHP1, Q6FHT1
      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)
    6. NM_001396045.1NP_001382974.1  S-methyl-5'-thioadenosine phosphorylase isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL359922, AL449423
      Conserved Domains (1) summary
      cd09010
      Location:12229
      MTAP_SsMTAPII_like_MTIP; 5'-deoxy-5'-methylthioadenosine phosphorylases (MTAP) similar to Sulfolobus solfataricus MTAPII and Pseudomonas aeruginosa PAO1 5'-methylthioinosine phosphorylase (MTIP)
    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
      I2G7M5, I2G7M6, I2G7M7, I2G7M8, I2G7M9, I2G7N0, Q13126, Q5T3P3, Q9H010
      UniProtKB/TrEMBL
      A0A384ME80, Q6FHP1, Q6FHT1
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      21802636..21941115
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      21816863..21955417
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)