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MTAP (methylthioadenosine phosphorylase)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4507
Gene nameGene Name - the full gene name approved by the HGNC.
Methylthioadenosine phosphorylase
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
MTAP
SynonymsGene synonyms aliases
BDMF, DMSFH, DMSMFH, HEL-249, LGMBF, MSAP, c86fus
ChromosomeChromosome number
9
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9p21.3
SummarySummary 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
Sequence length 283
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
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
Causal
Disease name Disease term 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, rs760043106, rs1057519788, rs1131692238, rs1131692237, rs1554350382 28604730
Melanoma melanoma, Cutaneous Melanoma rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs1563902635, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050 19578364, 21706340, 21983787, 28212542, 30429480
Unknown
Disease name Disease term dbSNP ID References
Diaphyseal medullary stenosis with bone malignancy Diaphyseal medullary stenosis with bone malignancy
Diaphyseal medullary stenosis with malignant fibrous histiocytoma Diaphyseal medullary stenosis with malignant fibrous histiocytoma 22464254
Fibrosarcoma Fibrosarcoma
Histiocytoma Histiocytoma

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