TYMP Gene Summary [Human]
This gene encodes an angiogenic factor which promotes angiogenesis in vivo and stimulates the in vitro growth of a variety of endothelial cells. It has a highly restricted target cell specificity acting only on endothelial cells. Mutations in this gene have been associated with mitochondrial neurogastrointestinal encephalomyopathy. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Apr 2012]
Details
| Type | Protein Coding |
| Official Symbol | TYMP |
| Official Name | thymidine phosphorylase [Source:HGNC Symbol;Acc:HGNC:3148] |
| Ensembl ID | ENSG00000025708 |
| Bio databases IDs | |
| Aliases | thymidine phosphorylase, gliostatin |
| Synonyms | 2900072D10Rik, ECGF, ECGF1, GLIOSTATIN, hPD-ECGF, MEDPS1, MNGIE, MTDPS1, PD-ECGF, Pdgfec, thymidine phosphorylase, TP |
| 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 TYMP often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Pyrimidine nucleoside phosphorylase C-terminal domain
- Glycosyl transferase family, helical bundle domain
- trpD
- pyrimidine-nucleoside phosphorylase
- Glycosyl transferase family, a/b domain
- protein homodimerization
- thymidine phosphorylase
- 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
- microsatellite instability high colon cancer
- advanced rectal cancer
- metastatic colon cancer
- advanced colon cancer
- metastatic rectal cancer
- colorectal cancer
- RAS mutation negative colorectal cancer
- BRAF mutation positive colorectal cancer
- metastatic colorectal cancer
- lung adenocarcinoma
role in cell
- cell viability
- apoptosis
- formation
- cell death
- stimulation
- abnormal morphology
- myelination
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Nucleus
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TYMP gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- chemotaxis
- pyrimidine base metabolic process
- dTMP catabolic process
- angiogenesis
- signal transduction
- cell differentiation
- regulation of transmission of nerve impulse
- regulation of myelination
- pyrimidine nucleoside metabolic process
- mitochondrial genome maintenance
Cellular Component
Where in the cell the gene product is active
- cytosol
Molecular Function
What the gene product does at the molecular level
- phosphorylase activity
- growth factor activity
- protein binding
- protein homodimerization activity
- thymidine phosphorylase activity