MTAP
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. Multiple alternatively spliced transcript variants have been described for this gene, but their full-length natures remain unknown. [provided by RefSeq, Jul 2008].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
methylthioadenosine phosphorylase | MIM:156540 | Ensembl:ENSG00000099810 | HGNC:HGNC:7413 | PA31220 | 9p21.3 |
Gene Categories:
DRUGGABLE GENOMEGO terms in MTAP
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
MF | TAS | GO:0004645 | phosphorylase activity |
MF | IBA | GO:0004731 | purine-nucleoside phosphorylase activity |
MF | IPI | GO:0005515 | protein binding |
MF | IBA | GO:0017061 | S-methyl-5-thioadenosine phosphorylase activity |
MF | TAS | GO:0017061 | S-methyl-5-thioadenosine phosphorylase activity |
CC | IEA | GO:0005634 | nucleus |
CC | IBA | GO:0005737 | cytoplasm |
CC | IBA | GO:0005829 | cytosol |
CC | IDA | GO:0005829 | cytosol |
CC | TAS | GO:0005829 | cytosol |
CC | HDA | GO:0070062 | extracellular exosome |
BP | TAS | GO:0006139 | nucleobase-containing compound metabolic process |
BP | IEA | GO:0006166 | purine ribonucleoside salvage |
BP | IDA | GO:0006738 | nicotinamide riboside catabolic process |
BP | IBA | GO:0019509 | L-methionine salvage from methylthioadenosine |
BP | IEA | GO:0019509 | L-methionine salvage from methylthioadenosine |
BP | TAS | GO:0019509 | L-methionine salvage from methylthioadenosine |
BP | IEA | GO:0032259 | methylation |
BP | IEA | GO:0033574 | response to testosterone |
BP | TAS | GO:0035722 | interleukin-12-mediated signaling pathway |
Gene expression in normal tissue: MTAP
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in MTAP
Database | Pathway ID | Pathway Des. |
---|---|---|
humancyc | PWY-6756 | S-methyl-5,-thioadenosine degradation |
humancyc | PWY-7527 | methionine salvage cycle III |
kegg | hsa00270 | Cysteine and methionine metabolism - Homo sapiens (human) |
wikipathways | WP3580 | Methionine De Novo and Salvage Pathway |
wikipathways | WP4100 | Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation |
smpdb | SMP00033 | Methionine Metabolism |
smpdb | SMP00177 | Cystathionine Beta-Synthase Deficiency |
smpdb | SMP00214 | S-Adenosylhomocysteine (SAH) Hydrolase Deficiency |
smpdb | SMP00221 | Methionine Adenosyltransferase Deficiency |
smpdb | SMP00222 | Glycine N-methyltransferase Deficiency |
smpdb | SMP00340 | Methylenetetrahydrofolate Reductase Deficiency (MTHFRD) |
smpdb | SMP00341 | Hypermethioninemia |
smpdb | SMP00570 | Homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cblG complementation type |
reactome | R-HSA-1237112 | Methionine salvage pathway |
reactome | R-HSA-1280215 | Cytokine Signaling in Immune system |
reactome | R-HSA-1430728 | Metabolism |
reactome | R-HSA-1614635 | Sulfur amino acid metabolism |
reactome | R-HSA-168256 | Immune System |
reactome | R-HSA-351202 | Metabolism of polyamines |
reactome | R-HSA-447115 | Interleukin-12 family signaling |
reactome | R-HSA-449147 | Signaling by Interleukins |
reactome | R-HSA-71291 | Metabolism of amino acids and derivatives |
reactome | R-HSA-8950505 | Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation |
reactome | R-HSA-9020591 | Interleukin-12 signaling |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in MTAP