Gene Gene information from NCBI Gene database.
Entrez ID 4507
Gene name Methylthioadenosine phosphorylase
Gene symbol MTAP
Synonyms (NCBI Gene)
BDMFDMSFHDMSMFHHEL-249LGMBFMSAPc86fus
Chromosome 9
Chromosome location 9p21.3
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
miRNA miRNA information provided by mirtarbase database.
464
miRTarBase ID miRNA Experiments Reference
MIRT000961 hsa-miR-21-5p Western blotNorthern blot 19013014
MIRT000961 hsa-miR-21-5p qRT-PCR 19013014
MIRT000961 hsa-miR-21-5p Luciferase reporter assay 19013014
MIRT020610 hsa-miR-155-5p Proteomics 18668040
MIRT025319 hsa-miR-34a-5p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity IEA
GO:0004645 Function 1,4-alpha-oligoglucan phosphorylase activity TAS 8687427
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
156540 7413 ENSG00000099810
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13126
Protein name S-methyl-5'-thioadenosine phosphorylase (EC 2.4.2.28) (5'-methylthioadenosine phosphorylase) (MTA phosphorylase) (MTAP) (MTAPase)
Protein 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 meth
PDB 1CB0 , 1CG6 , 1K27 , 1SD1 , 1SD2 , 3LN5 , 3OZC , 3OZD , 3OZE , 5EUB , 5TC5 , 5TC6 , 5TC7 , 5TC8 , 6DYZ , 6DZ0 , 6DZ2 , 6DZ3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01048 PNP_UDP_1 11 256 Phosphorylase superfamily Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed.
Sequence
Sequence length 283
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cysteine and methionine metabolism
Metabolic pathways
  Methionine salvage pathway
Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
143
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Diaphyseal medullary stenosis-bone malignancy syndrome Pathogenic rs2131048129, rs2131048008 RCV000022659
RCV000022660
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial prostate cancer Benign rs143080527 RCV005900555
Gastric cancer Benign rs79546636, rs147319145 RCV005900558
RCV005900554
Hepatocellular carcinoma Benign rs147319145 RCV005900552
Lung cancer Benign rs143080527 RCV005900556
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acrospiroma Associate 35963436
Adenocarcinoma Inhibit 35747993
Adenocarcinoma of Lung Associate 31965001, 40138743
Adenoma Associate 23361049
Astrocytoma Associate 27172220, 33077924, 37032198, 38019246
Biliary Tract Diseases Associate 40138743
Breast Neoplasms Associate 14506228, 20513530, 22522925, 26751376, 32570693, 36361596, 36913304
Brenner Tumor Associate 31695154
Calcinosis Cutis Associate 29268653
Carcinogenesis Associate 17552003, 27929028