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MTAP methylthioadenosine phosphorylase [ Homo sapiens (human) ]

Gene ID: 4507, updated on 20-Dec-2019

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 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]
Expression
Ubiquitous expression in ovary (RPKM 5.5), esophagus (RPKM 5.2) and 25 other tissues See more
Orthologs

Genomic context

See MTAP in Genome Data Viewer
Location:
9p21.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (21802636..21867081)
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 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
Diaphyseal medullary stenosis with malignant fibrous histiocytoma
MedGen: C1862177 OMIM: 112250 GeneReviews: Not available
Compare labs

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

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
S-methyl-5-thioadenosine phosphorylase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 salvage from methylthioadenosine IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
L-methionine salvage from methylthioadenosine IEA
Inferred from Electronic Annotation
more info
 
L-methionine salvage from methylthioadenosine TAS
Traceable Author Statement
more info
 
interleukin-12-mediated signaling pathway 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
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
nucleus IEA
Inferred from Electronic Annotation
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)

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

mRNA and Protein(s)

  1. NM_002451.4NP_002442.2  S-methyl-5'-thioadenosine phosphorylase

    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
    cl00303
    Location:10273
    PNP_UDP_1; Phosphorylase superfamily

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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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