Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4507
Gene name Gene Name - the full gene name approved by the HGNC.
Methylthioadenosine phosphorylase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MTAP
Synonyms (NCBI Gene) Gene synonyms aliases
BDMF, DMSFH, DMSMFH, HEL-249, LGMBF, MSAP, c86fus
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DMSMFH
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9p21.3
Summary Summary of gene provided in NCBI Entrez 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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT000961 hsa-miR-21-5p Western blot, Northern 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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004645 Function 1,4-alpha-oligoglucan phosphorylase activity TAS 8687427
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005654 Component Nucleoplasm IDA
GO:0005829 Component Cytosol IBA 21873635
GO:0005829 Component Cytosol IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
156540 7413 ENSG00000099810
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Diaphyseal medullary stenosis-bone malignancy syndrome Diaphyseal medullary stenosis-bone malignancy syndrome rs2131048129, rs2131048008
Esophagus neoplasm Esophageal Neoplasms rs28934578, rs121918714, rs1567556006, rs1575166666 22960999
Lung adenocarcinoma Adenocarcinoma of lung (disorder) rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370
View all (5 more)
28604730
Melanoma melanoma, Cutaneous Melanoma rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340
View all (64 more)
19578364, 21706340, 21983787, 28212542, 30429480
Unknown
Disease term Disease name Evidence References Source
Malignant melanoma of skin Malignant melanoma of skin of lower limb, Malignant melanoma of skin of upper limb 30429480 ClinVar
Nasopharyngeal carcinoma Nasopharyngeal carcinoma These data suggest that KAT7 can contribute NPC cell growth and survival through up-regulation of NPC-essential genes. 20512145 ClinVar, CBGDA
Coronary artery disease Coronary artery disease GWAS
Hyperopia Hyperopia GWAS
Associations from Text Mining
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