MTAP Gene Summary [Human]
This gene encodes an enzyme that plays a major role in polyamine metabolism and is important for the salvage pathway of both adenine and methionine. The encoded enzyme is deficient in many cancers. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2021]
Details
| Type | Protein Coding |
| Official Symbol | MTAP |
| Official Name | methylthioadenosine phosphorylase [Source:HGNC Symbol;Acc:HGNC:7413] |
| Ensembl ID | ENSG00000099810 |
| Bio databases IDs | |
| Aliases | methylthioadenosine phosphorylase, S-methyl-5'-thioadenosine phosphorylase |
| Synonyms | 1300019I21Rik, BDMF, c86fus, Cc1-6, DMSFH, DMSMFH, HEL-249, LGMBF, methylthioadenosine phosphorylase, MSAP, MTA phosphorylase |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MTAP often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- 5'-methylthioadenosine phosphorylase
- nucleoside phosphorylase-I family
- enzyme
- protein binding
- phosphorylase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- coronary artery disease
- non-small cell lung cancer
- cutaneous melanoma
- neoplasia
- squamous cell cancer
- epithelial cancer
- lung adenocarcinoma
- lung adenocarcinoma formation
- myocardial infarction
role in cell
- expression in
- growth
- cellular infiltration by
- stabilization in
- synthesis in
- serine phosphorylation in
- threonine phosphorylation in
- glycolysis in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- cytosol
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MTAP gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- L-methionine salvage from methylthioadenosine
- nicotinamide riboside catabolic process
- purine ribonucleoside salvage
- response to testosterone stimulus
- nucleobase-containing compound metabolic process
- methylation
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- phosphorylase activity
- S-methyl-5-thioadenosine phosphorylase activity
- protein binding