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    MTAP methylthioadenosine phosphorylase [ Homo sapiens (human) ]

    Gene ID: 4507, updated on 28-Oct-2024

    Summary

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    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
    mouse all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Polymorphisms in nevus-associated genes MTAP, PLA2G6, and IRF4 and the risk of invasive cutaneous melanoma. Kvaskoff M, et al. Twin Res Hum Genet, 2011 Oct. PMID 21962134, Free PMC Article
    2. MTAP gene is associated with ischemic stroke in Chinese Hans. Li SJ, et al. J Neurol Sci, 2009 Sep 15. PMID 19427650
    3. Loss of 5'-Methylthioadenosine Phosphorylase (MTAP) is Frequent in High-Grade Gliomas; Nevertheless, it is Not Associated with Higher Tumor Aggressiveness. Menezes WP, et al. Cells, 2020 Feb 20. PMID 32093414, Free PMC Article
    4. [Expression of methylthioadenosine phosphorylase (MTAP) gene and demethylation of its promoter in human colorectal cancer]. Dou JX, et al. Ai Zheng, 2009 Apr. PMID 19622299
    5. MTAP-deficiency could predict better treatment response in advanced lung adenocarcinoma patients initially treated with pemetrexed-platinum chemotherapy and bevacizumab. Jing W, et al. Sci Rep, 2020 Jan 21. PMID 31965001, Free PMC Article

    See all (128) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Methylthioadenosine Phosphorylase Genomic Loss in Advanced Gastrointestinal Cancers.
      Title: Methylthioadenosine Phosphorylase Genomic Loss in Advanced Gastrointestinal Cancers.
    2. Concordance between CDKN2A homozygous deletion and MTAP immunohistochemical loss in fluoroedenite-induced pleural mesothelioma: An immunohistochemical and molecular study on a single-institution series.
      Title: Concordance between CDKN2A homozygous deletion and MTAP immunohistochemical loss in fluoroedenite-induced pleural mesothelioma: An immunohistochemical and molecular study on a single-institution series.
    3. [Methylthioadenosine phosphorylase and p16 as surrogate diagnostic markers for CDKN2A homozygous deletion in brain tumors].
      Title: [Methylthioadenosine phosphorylase and p16 as surrogate diagnostic markers for CDKN2A homozygous deletion in brain tumors].
    4. Methylthioadenosine Phosphorylase and Breast Cancer 1 Protein-Associated Protein 1 as Biomarkers for the Peritoneal Mesothelioma.
      Title: Methylthioadenosine Phosphorylase and Breast Cancer 1 Protein-Associated Protein 1 as Biomarkers for the Peritoneal Mesothelioma.
    5. MTAP-ANRIL gene fusion promotes melanoma epithelial-mesenchymal transition-like process by activating the JNK and p38 signaling pathways.
      Title: MTAP-ANRIL gene fusion promotes melanoma epithelial-mesenchymal transition-like process by activating the JNK and p38 signaling pathways.
    6. BAP1 and Claudin-4, But Not MTAP, Reliably Distinguish Borderline and Low-grade Serous Ovarian Tumors From Peritoneal Mesothelioma.
      Title: BAP1 and Claudin-4, But Not MTAP, Reliably Distinguish Borderline and Low-grade Serous Ovarian Tumors From Peritoneal Mesothelioma.
    7. MTAP deficiency contributes to immune landscape remodelling and tumour evasion.
      Title: MTAP deficiency contributes to immune landscape remodelling and tumour evasion.
    8. Correlation of MTAP immunohistochemical deficiency with CDKN2A homozygous deletion and clinicopathological features in pleomorphic xanthoastrocytoma.
      Title: Correlation of MTAP immunohistochemical deficiency with CDKN2A homozygous deletion and clinicopathological features in pleomorphic xanthoastrocytoma.
    9. Diagnostic capacity of BAP1 and MTAP in cytology from effusions and biopsy in mesothelioma.
      Title: Diagnostic capacity of BAP1 and MTAP in cytology from effusions and biopsy in mesothelioma.
    10. Deletion of MTAP Highly Sensitizes Osteosarcoma Cells to Methionine Restriction With Recombinant Methioninase.
      Title: Deletion of MTAP Highly Sensitizes Osteosarcoma Cells to Methionine Restriction With Recombinant Methioninase.
    Submit: New GeneRIF Correction See all GeneRIFs (73)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Diaphyseal medullary stenosis-bone malignancy syndrome
    MedGen: C1862177 OMIM: 112250 GeneReviews: Not available
    		Compare labs

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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
    		  
    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

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    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)

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    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_001396040.1 → NP_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:29 → 272
      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_001396041.1 → NP_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:12 → 255
      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_001396042.1 → NP_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:12 → 229
      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_001396043.1 → NP_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:12 → 255
      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_001396044.1 → NP_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:12 → 255
      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_001396045.1 → NP_001382974.1  S-methyl-5'-thioadenosine phosphorylase isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL359922, AL449423
      Conserved Domains (1) summary
      cd09010
      Location:12 → 229
      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_002451.4 → NP_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:12 → 255
      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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13126.2 GenPept UniProtKB/Swiss-Prot:Q13126

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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