THPO Gene Summary [Human]
Megakaryocytopoiesis is the cellular development process that leads to platelet production. The main functional protein encoded by this gene is a humoral growth factor that is necessary for megakaryocyte proliferation and maturation, as well as for thrombopoiesis. This protein is the ligand for MLP/C_MPL, the product of myeloproliferative leukemia virus oncogene. Mutations in this gene are the cause of thrombocythemia 1. Alternative promoter usage and differential splicing result in multiple transcript variants differing in the 5' UTR and/or coding region. Multiple AUG codons upstream of the main open reading frame (ORF) have been identified, and these upstream AUGs inhibit translation of the main ORF at different extent. [provided by RefSeq, Feb 2014]
Details
| Type | Protein Coding |
| Official Symbol | THPO |
| Official Name | thrombopoietin [Source:HGNC Symbol;Acc:HGNC:11795] |
| Ensembl ID | ENSG00000090534 |
| Bio databases IDs | |
| Aliases | thrombopoietin, prepro-thrombopoietin, megakaryocyte stimulating factor, myeloproliferative leukemia virus oncogene ligand, megakaryocyte growth and development factor, MPL ligand, megakaryocyte colony-stimulating factor, c-mpl ligand, thrombopoietin nirs |
| Synonyms | CAMT2, LOC100910397, MGDF, MKCSF, ML, MPLLG, THC9, THCYT1, THCYTX, Thpol1, Thrombopoietin, thrombopoietin like 1, TPO |
| 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 THPO often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- secretory leader domain
- Erythropoietin-like domain
- Erythropoietin/thrombopoietin
- glycan domain
- cytokine
- growth factor
Pathways
Biological processes and signaling networks where the THPO gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cirrhosis
- Sjögren syndrome
- neoplasia
- hemorrhagic disease
- thrombocytosis
- congenital amegakaryocytic thrombocytopenia II
- thrombocytopenia type 9
- hereditary disorder
- thrombocythemia 1
- asthma
role in cell
- cell death
- activation in
- apoptosis
- survival
- generation
- proliferation
- quantity
- expression in
- activation
- formation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- membrane processes
- perikaryon
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human THPO gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell proliferation
- megakaryocyte differentiation
- positive regulation of ERK1 and ERK2 cascade
- positive regulation of protein phosphorylation
- positive regulation of cell proliferation
- megakaryocyte development
- positive regulation of megakaryocyte differentiation
- thrombopoietin-mediated signaling pathway
- positive regulation of MAPK cascade
- positive regulation of protein kinase B signaling cascade
Cellular Component
Where in the cell the gene product is active
- extracellular space
- extracellular region
Molecular Function
What the gene product does at the molecular level
- growth factor activity
- cytokine activity
- receptor binding
- hormone activity