MTAP (methylthioadenosine phosphorylase)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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4507 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Methylthioadenosine phosphorylase |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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MTAP |
SynonymsGene synonyms aliases
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BDMF, DMSFH, DMSMFH, HEL-249, LGMBF, MSAP, c86fus |
ChromosomeChromosome number
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9 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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9p21.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF01048 |
PNP_UDP_1 |
11 → 256 |
Phosphorylase superfamily |
Domain |
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Sequence |
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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.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Diaphyseal medullary stenosis-bone malignancy syndrome |
Diaphyseal medullary stenosis-bone malignancy syndrome |
rs2131048129, rs2131048008 |
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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 |
Nasopharyngeal carcinoma |
Nasopharyngeal carcinoma |
rs200046052 |
20512145 |
Prostate cancer |
Malignant neoplasm of prostate |
rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 |
21716162 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Diaphyseal medullary stenosis with bone malignancy |
Diaphyseal medullary stenosis with bone malignancy |
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Diaphyseal medullary stenosis with malignant fibrous histiocytoma |
Diaphyseal medullary stenosis with malignant fibrous histiocytoma |
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22464254 |
Fibrosarcoma |
Fibrosarcoma |
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Histiocytoma |
Histiocytoma |
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Malignant melanoma of skin |
Malignant melanoma of skin of lower limb, Malignant melanoma of skin of upper limb |
rs16891982 |
30429480 |
Nevus |
Nevus |
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19578365 |
Osteopenia |
Osteopenia |
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Osteosarcoma |
Osteosarcoma |
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Presenile cataract |
Presenile cataract |
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Prostatic neoplasms |
Prostatic Neoplasms |
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21716162 |
Stenosis of the medullary cavity of the long bones |
Stenosis of the medullary cavity of the long bones |
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