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Aliases for MTAP Gene

Aliases for MTAP Gene

  • Methylthioadenosine Phosphorylase 2 3
  • S-Methyl-5-Thioadenosine Phosphorylase 2 3
  • 5-Methylthioadenosine Phosphorylase 3 4
  • MTA Phosphorylase 3 4
  • MTAPase 3 4
  • DMSMFH 3 6
  • MSAP 3 4
  • Epididymis Luminal Protein 249 3
  • MeSAdo Phosphorylase 3
  • EC 2.4.2.28 4
  • HEL-249 3
  • C86fus 3
  • DMSFH 3
  • LGMBF 3
  • BDMF 3

External Ids for MTAP Gene

Summaries for MTAP Gene

Entrez Gene Summary for MTAP Gene

  • 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]

GeneCards Summary for MTAP Gene

MTAP (Methylthioadenosine Phosphorylase) is a Protein Coding gene. Diseases associated with MTAP include diaphyseal medullary stenosis with malignant fibrous histiocytoma. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include phosphorylase activity and S-methyl-5-thioadenosine phosphorylase activity. An important paralog of this gene is ENSG00000264545.

UniProtKB/Swiss-Prot for MTAP Gene

  • Catalyzes the reversible phosphorylation of S-methyl-5-thioadenosine (MTA) to adenine and 5-methylthioribose-1-phosphate. Involved in the breakdown of MTA, a major by-product of polyamine biosynthesis. Responsible for the first step in the methionine salvage pathway after MTA has been generated from S-adenosylmethionine. Has broad substrate specificity with 6-aminopurine nucleosides as preferred substrates.

Gene Wiki entry for MTAP Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MTAP Gene

Genomics for MTAP Gene

Genomic Location for MTAP Gene

Start:
21,802,543 bp from pter
End:
21,937,651 bp from pter
Size:
135,109 bases
Orientation:
Plus strand

Genomic View for MTAP Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MTAP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTAP Gene

Regulatory Elements for MTAP Gene

Proteins for MTAP Gene

  • Protein details for MTAP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13126-MTAP_HUMAN
    Recommended name:
    S-methyl-5-thioadenosine phosphorylase
    Protein Accession:
    Q13126
    Secondary Accessions:
    • I2G7M5
    • I2G7M6
    • I2G7M7
    • I2G7M8
    • I2G7M9
    • I2G7N0
    • Q5T3P3
    • Q9H010

    Protein attributes for MTAP Gene

    Size:
    283 amino acids
    Molecular mass:
    31236 Da
    Quaternary structure:
    • Homotrimer.

    Three dimensional structures from OCA and Proteopedia for MTAP Gene

    Alternative splice isoforms for MTAP Gene

neXtProt entry for MTAP Gene

Proteomics data for MTAP Gene at MOPED

Post-translational modifications for MTAP Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys40 and Lys71

Other Protein References for MTAP Gene

No data available for DME Specific Peptides for MTAP Gene

Domains for MTAP Gene

UniProtKB/Swiss-Prot:

MTAP_HUMAN
Family:
  • Belongs to the PNP/MTAP phosphorylase family. MTAP subfamily.:
    • Q13126
genes like me logo Genes that share domains with MTAP: view

No data available for Gene Families for MTAP Gene

Function for MTAP Gene

Molecular function for MTAP Gene

GENATLAS Biochemistry: methylthioadenosine phosphorylase,purine catabolic pathway,often co-deleted with CDKN2A in adult acute T cell type leukemia
UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=5 uM for S-methyl-5-thioadenosine {ECO:0000269 PubMed:3091600, ECO:0000269 PubMed:8687427}; KM=580 uM for phosphate {ECO:0000269 PubMed:3091600, ECO:0000269 PubMed:8687427}; KM=23 uM for adenine {ECO:0000269 PubMed:3091600, ECO:0000269 PubMed:8687427}; KM=8 uM for S-methyl-5-thio-alpha-D-ribose 1-phosphate {ECO:0000269 PubMed:3091600, ECO:0000269 PubMed:8687427}; pH dependence: Optimum pH is 7.2-7.6. {ECO:0000269 PubMed:3091600, ECO:0000269 PubMed:8687427};
UniProtKB/Swiss-Prot CatalyticActivity: S-methyl-5-thioadenosine + phosphate = adenine + S-methyl-5-thio-alpha-D-ribose 1-phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation: Inhibited by 5-methylthiotubercin and 5-chloroformycin
UniProtKB/Swiss-Prot Function: Catalyzes the reversible phosphorylation of S-methyl-5-thioadenosine (MTA) to adenine and 5-methylthioribose-1-phosphate. Involved in the breakdown of MTA, a major by-product of polyamine biosynthesis. Responsible for the first step in the methionine salvage pathway after MTA has been generated from S-adenosylmethionine. Has broad substrate specificity with 6-aminopurine nucleosides as preferred substrates.

Enzyme Numbers (IUBMB) for MTAP Gene

Gene Ontology (GO) - Molecular Function for MTAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004645 phosphorylase activity IEA --
GO:0004731 purine-nucleoside phosphorylase activity IBA --
GO:0005515 protein binding IPI 25416956
GO:0017061 S-methyl-5-thioadenosine phosphorylase activity TAS --
genes like me logo Genes that share ontologies with MTAP: view
genes like me logo Genes that share phenotypes with MTAP: view

miRNA for MTAP Gene

miRTarBase miRNAs that target MTAP

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for MTAP Gene

Localization for MTAP Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTAP Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MTAP Gene COMPARTMENTS Subcellular localization image for MTAP gene
Compartment Confidence
cytosol 4
nucleus 2

Gene Ontology (GO) - Cellular Components for MTAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with MTAP: view

Pathways for MTAP Gene

genes like me logo Genes that share pathways with MTAP: view

Pathways by source for MTAP Gene

UniProtKB/Swiss-Prot Q13126-MTAP_HUMAN

  • Pathway: Amino-acid biosynthesis; L-methionine biosynthesis via salvage pathway; S-methyl-5-thio-alpha-D-ribose 1-phosphate from S-methyl-5-thioadenosine (phosphorylase route): step 1/1.

Gene Ontology (GO) - Biological Process for MTAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000096 sulfur amino acid metabolic process TAS --
GO:0006139 nucleobase-containing compound metabolic process TAS 8687427
GO:0006166 purine ribonucleoside salvage IEA --
GO:0006595 polyamine metabolic process TAS --
GO:0006738 NOT nicotinamide riboside catabolic process IDA 19001417
genes like me logo Genes that share ontologies with MTAP: view

Compounds for MTAP Gene

(9) HMDB Compounds for MTAP Gene

Compound Synonyms Cas Number PubMed IDs
5'-Methylthioadenosine
  • 1-(6-amino-9H-purin-9-yl)-1-deoxy-5-S-methyl-5-thio-beta-D-Ribofuranose
2457-80-9
5-Methylthioribose 1-phosphate
  • 1-phospho-5-S-methylthioribose
72843-83-5
Adenine
  • 1,6-Dihydro-6-iminopurine
73-24-5
N1-Acetylspermine
  • N'-Acetylspermine
25593-72-0
Norspermidine
  • N-(3-aminopropyl)-1,3-Propanediamine
56-18-8

(5) Drugbank Compounds for MTAP Gene

(28) Novoseek inferred chemical compound relationships for MTAP Gene

Compound -log(P) Hits PubMed IDs
5-methylthioadenosine 98.7 165
l-alanosine 96.8 25
5-methylthioribose-1-phosphate 92.9 4
5-deoxyadenosine 81.9 5
adenine 78.1 28
genes like me logo Genes that share compounds with MTAP: view

Transcripts for MTAP Gene

Unigene Clusters for MTAP Gene

Methylthioadenosine phosphorylase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MTAP Gene

No ASD Table

Relevant External Links for MTAP Gene

GeneLoc Exon Structure for
MTAP
ECgene alternative splicing isoforms for
MTAP

Expression for MTAP Gene

mRNA expression in normal human tissues for MTAP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MTAP Gene

SOURCE GeneReport for Unigene cluster for MTAP Gene Hs.193268

mRNA Expression by UniProt/SwissProt for MTAP Gene

Q13126-MTAP_HUMAN
Tissue specificity: Ubiquitously expressed
genes like me logo Genes that share expressions with MTAP: view

Orthologs for MTAP Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MTAP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MTAP 36
  • 99.76 (n)
  • 100 (a)
MTAP 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 37
  • 88 (a)
OneToMany
MTAP 36
  • 91.87 (n)
  • 93.99 (a)
dog
(Canis familiaris)
Mammalia -- 37
  • 94 (a)
OneToMany
MTAP 36
  • 91.99 (n)
  • 95.41 (a)
mouse
(Mus musculus)
Mammalia Mtap 36
  • 87.63 (n)
  • 93.64 (a)
Mtap 16
Mtap 37
  • 94 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 86 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 87 (a)
OneToMany
chicken
(Gallus gallus)
Aves MTAP 36
  • 78.22 (n)
  • 83.03 (a)
MTAP 37
  • 82 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 82 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.12878 36
tropical clawed frog
(Silurana tropicalis)
Amphibia mtap 36
  • 75.27 (n)
  • 81.82 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9882 36
zebrafish
(Danio rerio)
Actinopterygii mtap 36
  • 72.16 (n)
  • 79.57 (a)
mtap 37
  • 79 (a)
OneToMany
zgc66012 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005129 36
  • 59.46 (n)
  • 65.2 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG31115 37
  • 41 (a)
ManyToMany
CG4802 36
  • 60.46 (n)
  • 61.98 (a)
CG4802 37
  • 56 (a)
ManyToMany
CG4802 38
  • 61 (a)
worm
(Caenorhabditis elegans)
Secernentea B0228.7 36
  • 51.73 (n)
  • 50.74 (a)
B0228.7 37
  • 47 (a)
OneToMany
B0228.7 38
  • 49 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MEU1 36
  • 46.85 (n)
  • 38.19 (a)
MEU1 37
  • 28 (a)
OneToMany
MEU1 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F15664g 36
  • 48.23 (n)
  • 38.64 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03963 36
  • 50.6 (n)
  • 43.78 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC16C9.02c 36
  • 50.55 (n)
  • 40.16 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7181 37
  • 44 (a)
OneToMany
Species with no ortholog for MTAP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MTAP Gene

ENSEMBL:
Gene Tree for MTAP (if available)
TreeFam:
Gene Tree for MTAP (if available)

Paralogs for MTAP Gene

Paralogs for MTAP Gene

Pseudogenes.org Pseudogenes for MTAP Gene

genes like me logo Genes that share paralogs with MTAP: view

Variants for MTAP Gene

Sequence variations from dbSNP and Humsavar for MTAP Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs15735 -- 21,862,272(+) AAAAA(A/C)CCCAC utr-variant-3-prime
rs869329 -- 21,804,694(-) TAGGA(C/T)GTGGT intron-variant
rs869330 -- 21,804,618(-) AAGTC(C/T)GGGGA intron-variant
rs871024 -- 21,803,881(+) TATTA(A/C)GCCCT intron-variant
rs885392 -- 21,830,823(-) AAAGG(C/T)CCAGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MTAP Gene

Variant ID Type Subtype PubMed ID
nsv8426 CNV Loss 18304495
esv33626 CNV Loss 17666407
nsv892745 CNV Gain 21882294

Relevant External Links for MTAP Gene

HapMap Linkage Disequilibrium report
MTAP
Human Gene Mutation Database (HGMD)
MTAP

Disorders for MTAP Gene

(1) OMIM Diseases for MTAP Gene (156540)

UniProtKB/Swiss-Prot

MTAP_HUMAN
  • Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMSMFH) [MIM:112250]: An autosomal dominant bone dysplasia characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis. The fractures heal poorly, and there is progressive bowing of the lower extremities. Some patients show a limb-girdle myopathy, with muscle weakness and atrophy. Approximately 35% of affected individuals develop an aggressive form of bone sarcoma consistent with malignant fibrous histiocytoma or osteosarcoma. {ECO:0000269 PubMed:22464254}. Note=The disease is caused by mutations affecting the gene represented in this entry. DMSMFH causing mutations found in MTAP exon 9 result in exon skipping and dysregulated alternative splicing of all MTAP isoforms (PubMed:22464254). {ECO:0000269 PubMed:22464254}.
  • Note=Loss of MTAP activity may play a role in human cancer. MTAP loss has been reported in a number of cancers, including osteosarcoma, malignant melanoma and gastric cancer.

(43) Novoseek inferred disease relationships for MTAP Gene

Disease -log(P) Hits PubMed IDs
t-all 64.2 18
enzyme deficiency 62.2 4
glioma 52.1 6
chondrosarcoma 50.2 2
tumors 49 61

Relevant External Links for MTAP

Genetic Association Database (GAD)
MTAP
Human Genome Epidemiology (HuGE) Navigator
MTAP
genes like me logo Genes that share disorders with MTAP: view

Publications for MTAP Gene

  1. Genomic cloning of methylthioadenosine phosphorylase: a purine metabolic enzyme deficient in multiple different cancers. (PMID: 8650244) Nobori T. … Carson D.A. (Proc. Natl. Acad. Sci. U.S.A. 1996) 3 4 23
  2. Construction of a 2.8-megabase yeast artificial chromosome contig and cloning of the human methylthioadenosine phosphorylase gene from the tumor suppressor region on 9p21. (PMID: 7604019) Olopade O.I. … Bohlander S.K. (Proc. Natl. Acad. Sci. U.S.A. 1995) 3 4 23
  3. The structure of human 5'-deoxy-5'-methylthioadenosine phosphorylase at 1.7-A resolution provides insights into substrate binding and catalysis. (PMID: 10404592) Appleby T.C. … Ealick S.E. (Structure 1999) 3 4 23
  4. A methylthioadenosine phosphorylase (MTAP) fusion transcript identifies a new gene on chromosome 9p21 that is frequently deleted in cancer. (PMID: 11126361) Schmid M. … Carson D.A. (Oncogene 2000) 2 3 23
  5. Deletion of dinucleotide repeat (Delta 14 allele) in the methylthioadenosine phosphorylase (MTAP) promoter and the allelotype of MTAP promoter in the Japanese population. (PMID: 11985785) Kadariya Y. … Nobori T. (Jpn. J. Cancer Res. 2002) 3 23 49

Products for MTAP Gene

Sources for MTAP Gene

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