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Aliases for MTAP Gene

Aliases for MTAP Gene

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

External Ids for MTAP Gene

Previous GeneCards Identifiers for MTAP Gene

  • GC09P022130
  • GC09P022003

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]

CIViC summary for MTAP Gene

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 and Histiocytoma. Among its related pathways are Metabolism and Sulfur amino acid 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

Additional gene information 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

Regulatory Elements for MTAP Gene

Enhancers for MTAP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09H021830 1.7 FANTOM5 Ensembl ENCODE dbSUPER 22.5 +31.6 31619 8 PKNOX1 BMI1 BATF RFX5 FOS ATF7 RUNX3 CREM IKZF2 SMARCA5 MTAP TUBB8P1 ENSG00000265194
GH09H022116 1.6 VISTA Ensembl ENCODE dbSUPER 21.8 +315.5 315516 3.1 TBP CTCF PKNOX1 KLF1 MAX FEZF1 ZIC2 RAD21 RARA GATA3 MTAP ENSG00000265194 KLHL9 CDKN2A CDKN2B-AS1 ENSG00000277653 GC09M022195
GH09H021777 1 Ensembl ENCODE dbSUPER 28.4 -24.2 -24207 2.6 JUND GLIS1 CEBPB FOS EP300 MTAP RN7SL151P
GH09H021787 1.3 Ensembl ENCODE dbSUPER 21.2 -13.5 -13516 2.6 ELF3 CTCF MXI1 FOXA2 RB1 ARID4B SIN3A MAX ZNF384 RAD21 MTAP MIR31 RN7SL151P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MTAP on UCSC Golden Path with GeneCards custom track

Promoters for MTAP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Locations for MTAP Gene

Genomic Locations for MTAP Gene
135,109 bases
Plus strand

Genomic View for MTAP Gene

Genes around MTAP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTAP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTAP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTAP Gene

Proteins for MTAP Gene

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

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

    Protein attributes for MTAP Gene

    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

Post-translational modifications for MTAP Gene

  • Ubiquitination at posLast=4040 and Lys71
  • Modification sites at PhosphoSitePlus

Other Protein References for MTAP Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for MTAP (MTAP)
  • Abcam antibodies for MTAP
  • Santa Cruz Biotechnology (SCBT) Antibodies for MTAP

No data available for DME Specific Peptides for MTAP Gene

Domains & Families for MTAP Gene

Gene Families for MTAP Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for MTAP Gene

Graphical View of Domain Structure for InterPro Entry



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

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

Phenotypes From GWAS Catalog for MTAP Gene

Gene Ontology (GO) - Molecular Function for MTAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004645 phosphorylase activity TAS 8687427
GO:0004731 purine-nucleoside phosphorylase activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with MTAP: view
genes like me logo Genes that share phenotypes with MTAP: view

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MTAP Gene

Localization for MTAP Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTAP Gene

Cytoplasm. Nucleus.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MTAP gene
Compartment Confidence
extracellular 5
cytosol 5
nucleus 3

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MTAP Gene

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

Pathways & Interactions 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:0006139 nucleobase-containing compound metabolic process TAS 8687427
GO:0006166 purine ribonucleoside salvage IEA --
GO:0006738 NOT nicotinamide riboside catabolic process IDA 19001417
GO:0009116 nucleoside metabolic process IEA --
GO:0019509 L-methionine biosynthetic process from methylthioadenosine TAS --
genes like me logo Genes that share ontologies with MTAP: view

No data available for SIGNOR curated interactions for MTAP Gene

Drugs & Compounds for MTAP Gene

(19) Drugs for MTAP Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenine Approved Nutra Target 0
spermine Approved Nutra Full agonist, Agonist 0
Phosphoric acid Approved Pharma 0
putrescine Experimental Pharma Antagonist, Pore Blocker 0
spermidine Experimental Pharma Antagonist, Pore Blocker 0

(19) Additional Compounds for MTAP Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 1-(6-Amino-9H-purin-9-yl)-1-deoxy-5-S-methyl-5-thio-beta-D-Ribofuranose
  • 1-(6-Amino-9H-purin-9-yl)-1-deoxy-5-S-methyl-5-thio-beta-delta-Ribofuranose
  • 5'-(Methylthio)-5'-deoxyadenosine
  • 5'-(Methylthio)adenosine
  • 5'-Deoxy-5'-(methylthio)adenosine
5-Methylthioribose 1-phosphate
  • 1-Phospho-5-S-methylthioribose
  • 1-Phosphomethylthioribose
  • 5-Methylthio-5-deoxy-D-ribose 1-phosphate
  • 5-Methylthio-5-deoxy-D-ribose-1-phosphate
  • 5-Methylthio-D-ribose-1-phosphate
  • N'-Acetylspermine
  • N'-Monoacetylspermine
  • N(1)-Acetylspermine
  • N-(3-((4-((3-Aminopropyl)amino)butyl)amino)propyl)-Acetamide
  • N-Acetylspermine
  • -1,3-propanediamine
  • 1,7-Diamino-4-azaheptane
  • 3, 3'-Diaminodipropylamine
  • 3, {3'-Iminobis[propylamine]}
  • 3,3'-Diamino-Dipropylamine
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
genes like me logo Genes that share compounds with MTAP: view

Transcripts for MTAP Gene

Unigene Clusters for MTAP Gene

Methylthioadenosine phosphorylase:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for MTAP Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MTAP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MTAP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MTAP Gene

This gene is overexpressed in Bone (11.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MTAP Gene

Protein tissue co-expression partners for MTAP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MTAP Gene:


SOURCE GeneReport for Unigene cluster for MTAP Gene:


mRNA Expression by UniProt/SwissProt for MTAP Gene:

Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for MTAP Gene

  • Nervous system(4.4)
  • Intestine(4.3)
  • Skin(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MTAP Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • immune
  • integumentary
  • lymphatic
  • nervous
  • skeletal muscle
  • skeleton
Head and neck:
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
  • pelvis
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • bone marrow
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with MTAP: view

No data available for mRNA differential expression in normal tissues for MTAP Gene

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
(Pan troglodytes)
Mammalia MTAP 33 34
  • 99.76 (n)
(Canis familiaris)
Mammalia -- 34
  • 94 (a)
  • 91.99 (n)
(Bos Taurus)
Mammalia MTAP 33
  • 91.87 (n)
-- 34
  • 88 (a)
(Mus musculus)
Mammalia Mtap 33 16 34
  • 87.63 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 87 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 86 (a)
(Gallus gallus)
Aves MTAP 33 34
  • 78.22 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 82 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mtap 33
  • 75.27 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12878 33
(Danio rerio)
Actinopterygii mtap 33 34
  • 72.16 (n)
zgc66012 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9882 33
fruit fly
(Drosophila melanogaster)
Insecta CG4802 35 33 34
  • 60.46 (n)
CG31115 34
  • 41 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005129 33
  • 59.46 (n)
(Caenorhabditis elegans)
Secernentea B0228.7 35 33 34
  • 51.73 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F15664g 33
  • 48.23 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MEU1 33 34 36
  • 46.85 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03963 33
  • 50.6 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC16C9.02c 33
  • 50.55 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7181 34
  • 44 (a)
Species where no ortholog for MTAP was found in the sources mined by GeneCards:
  • 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

Gene Tree for MTAP (if available)
Gene Tree for MTAP (if available)

Paralogs for MTAP Gene

Paralogs for MTAP Gene 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
rs111408881 Likely benign 21,863,355(+) GTAAT(C/T)CCAGC utr-variant-3-prime
rs138870323 Likely benign 21,865,375(+) TTAAA(C/T)CTCTT utr-variant-3-prime
rs138936486 Likely benign 21,862,721(+) AAGTG(A/G)AAAAA utr-variant-3-prime
rs142144597 Likely benign 21,862,818(+) TGTTA(C/T)TGTAT utr-variant-3-prime
rs143080527 Likely benign 21,854,833(+) CATGG(C/G/T)GACAG reference, missense

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

Variant ID Type Subtype PubMed ID
nsv972653 CNV duplication 23825009
nsv8426 CNV loss 18304495
nsv1026981 CNV gain 25217958
esv3619972 CNV loss 21293372
esv33626 CNV loss 17666407
esv2764150 CNV gain+loss 21179565

Variation tolerance for MTAP Gene

Residual Variation Intolerance Score: 20.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.26; 94.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MTAP Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTAP Gene

Disorders for MTAP Gene

MalaCards: The human disease database

(11) MalaCards diseases for MTAP Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
diaphyseal medullary stenosis with malignant fibrous histiocytoma
  • bdmf
  • cutaneous fibrous histiocytoma
bone cancer
  • bone neoplasm
myxoid chondrosarcoma
progressive muscular dystrophy
  • muscular dystrophy
- elite association - COSMIC cancer census association via MalaCards
Search MTAP in MalaCards View complete list of genes associated with diseases


  • 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.

Relevant External Links for MTAP

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with MTAP: view

No data available for Genatlas for MTAP Gene

Publications for MTAP Gene

  1. MTAP and CDKN2B genes are associated with myocardial infarction in Chinese Hans. (PMID: 19272367) Yang XC … Wang XF (Clinical biochemistry 2009) 3 22 45 60
  2. MTAP gene is associated with ischemic stroke in Chinese Hans. (PMID: 19427650) Li SJ … Wang XF (Journal of the neurological sciences 2009) 3 22 45 60
  3. Homozygous deletion of MTAP gene as a poor prognosticator in gastrointestinal stromal tumors. (PMID: 19887491) Huang HY … Li CF (Clinical cancer research : an official journal of the American Association for Cancer Research 2009) 3 22 45 60
  4. 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 (Japanese journal of cancer research : Gann 2002) 3 22 45 60
  5. A methylthioadenosine phosphorylase (MTAP) fusion transcript identifies a new gene on chromosome 9p21 that is frequently deleted in cancer. (PMID: 11126361) Schmid M … Carson DA (Oncogene 2000) 2 3 22 60

Products for MTAP Gene

Sources for MTAP Gene

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