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MTAP methylthioadenosine phosphorylase [ Homo sapiens (human) ]

Gene ID: 4507, updated on 3-Mar-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 current GRCh38.p12 (GCF_000001405.38) 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 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 CDKN2B antisense RNA 1 Neighboring gene cyclin dependent kinase inhibitor 2A 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 FunctionsWhat'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 BioSystems

  • 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

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
 
response to testosterone 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..68336
    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, ENST00000644715.1
    Conserved Domains (1) summary
    cl00303
    Location:10273
    PNP_UDP_1; Phosphorylase superfamily

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

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