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MTAP methylthioadenosine phosphorylase [ Homo sapiens (human) ]

Gene ID: 4507, updated on 5-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (21802636..21941115)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (21816863..21955417)
105.20220307 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
  • 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. MTAP deficiency contributes to immune landscape remodelling and tumour evasion. Chang WH, et al. Immunology, 2023 Feb. PMID 36183155, Free PMC Article
  2. Deletion of MTAP Highly Sensitizes Osteosarcoma Cells to Methionine Restriction With Recombinant Methioninase. Aoki Y, et al. Cancer Genomics Proteomics, 2022 May-Jun. PMID 35430564, Free PMC Article
  3. Expression and localisation of methylthioadenosine phosphorylase (MTAP) in oral squamous cell carcinoma and their significance in epithelial-to-mesenchymal transition. Amano Y, et al. Pathology, 2022 Apr. PMID 34518040
  4. MTAP Deficiency-Induced Metabolic Reprogramming Creates a Vulnerability to Cotargeting De Novo Purine Synthesis and Glycolysis in Pancreatic Cancer. Hu Q, et al. Cancer Res, 2021 Oct 1. PMID 34385182
  5. Homozygous MTAP deletion in primary human glioblastoma is not associated with elevation of methylthioadenosine. Barekatain Y, et al. Nat Commun, 2021 Jul 9. PMID 34244484, Free PMC Article

See all (121) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. MTAP deficiency contributes to immune landscape remodelling and tumour evasion.
    Title: MTAP deficiency contributes to immune landscape remodelling and tumour evasion.
  5. 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.
  6. 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.
  7. 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.
  8. Expression and localisation of methylthioadenosine phosphorylase (MTAP) in oral squamous cell carcinoma and their significance in epithelial-to-mesenchymal transition.
    Title: Expression and localisation of methylthioadenosine phosphorylase (MTAP) in oral squamous cell carcinoma and their significance in epithelial-to-mesenchymal transition.
  9. Loss of Methylthioadenosine Phosphorylase by Immunohistochemistry Is Common in Pulmonary Sarcomatoid Carcinoma and Sarcomatoid Mesothelioma.
    Title: Loss of Methylthioadenosine Phosphorylase by Immunohistochemistry Is Common in Pulmonary Sarcomatoid Carcinoma and Sarcomatoid Mesothelioma.
  10. MTAP Deficiency-Induced Metabolic Reprogramming Creates a Vulnerability to Cotargeting De Novo Purine Synthesis and Glycolysis in Pancreatic Cancer.
    Title: MTAP Deficiency-Induced Metabolic Reprogramming Creates a Vulnerability to Cotargeting De Novo Purine Synthesis and Glycolysis in Pancreatic Cancer.
Submit: New GeneRIF Correction See all GeneRIFs (70)

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
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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_2023_10

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

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