Summary of MTAP
The gene codes for an enzyme, methylthioadenosine phosphorylase. It is not found very often in many cancers because this gene and the tumor suppressor p16 gene are co-deleted [R].
The Function of MTAP
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 methionine salvage pathway after MTA has been generated from S-adenosylmethionine. Has broad substrate specificity with 6-aminopurine nucleosides as preferred substrates.
Protein names
Recommended name:
S-methyl-5'-thioadenosine phosphorylaseShort name:
MTAPAlternative name(s):
5'-methylthioadenosine phosphorylaseMTA phosphorylase
MTAPase
- RS10757257 (MTAP) ??
- RS4636294 (MTAP) ??
- RS7023329 (MTAP) ??
- RS7027989 (MTAP) ??
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Top Gene-Substance Interactions
MTAP Interacts with These Diseases
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Substances That Increase MTAP
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Substances That Decrease MTAP
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Advanced Summary
From UniProt: Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMSMFH): An autosomal dominant bone dysplasia characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis. The fractures heal poorly, and there is progressive bowing of the lower extremities. Some patients show a limb-girdle myopathy, with muscle weakness and atrophy. Approximately 35% of affected individuals develop an aggressive form of bone sarcoma consistent with malignant fibrous histiocytoma or osteosarcoma. [MIM:112250] Loss of MTAP activity may play a role in human cancer. MTAP loss has been reported in a number of cancers, including osteosarcoma, malignant melanoma and gastric cancer.
From NCBI 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. Multiple alternatively spliced transcript variants have been described for this gene, but their full-length natures remain unknown. [provided by RefSeq, Jul 2008] From UniProt: 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 methionine salvage pathway after MTA has been generated from S-adenosylmethionine. Has broad substrate specificity with 6-aminopurine nucleosides as preferred substrates.
Conditions with Increased Gene Activity
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Conditions with Decreased Gene Activity
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Technical
The following transcription factors affect gene expression:
Tissue specificity:
Ubiquitously expressed.
Gene Pathways:
Enzyme Regulation:
Inhibited by 5'-methylthiotubercin and 5'-chloroformycin.
Molecular Function:
Biological Processes:
- L-Methionine Biosynthetic Process From Methylthioadenosine
- Nucleobase-Containing Compound Metabolic Process
- Purine-Containing Compound Salvage
- Purine Ribonucleoside Salvage
- Methylation
- Response To Testosterone