P4HTM Gene Summary [Human]
The product of this gene belongs to the family of prolyl 4-hydroxylases. This protein is a prolyl hydroxylase that may be involved in the degradation of hypoxia-inducible transcription factors under normoxia. It plays a role in adaptation to hypoxia and may be related to cellular oxygen sensing. Alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | P4HTM |
| Official Name | prolyl 4-hydroxylase, transmembrane [Source:HGNC Symbol;Acc:HGNC:28858] |
| Ensembl ID | ENSG00000178467 |
| Bio databases IDs | |
| Aliases | prolyl 4-hydroxylase, transmembrane, Prolyl hydroxlase domain-containing 4, hypoxia inducible factor prolyl 4 hydroxylase |
| Synonyms | 4933406E20Rik, BB128974, EGLN4, HIDEA, HIF-PH4, HPH-4, ODD, PH-4, PHD4, prolyl 4-hydroxylase, transmembrane, prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum), RGD1311848 |
| 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 P4HTM often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- 2-oxoglutarate:oxygen oxidoreductase
- EF-hand domain pair
- EFh
- enzyme
- 2OG-Fe(II) oxygenase superfamily
- Prolyl 4-hydroxylase alpha subunit homologues
Pathways
Biological processes and signaling networks where the P4HTM 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
- hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy and eye abnormalities
- mental retardation
regulated by
- HIF1A
- cyclosporin A
- dexamethasone
role in cell
- expression in
- differentiation
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
- cellular membrane
- Endoplasmic Reticulum
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human P4HTM gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- peptidyl-proline hydroxylation to 4-hydroxy-L-proline
- regulation of erythrocyte differentiation
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- procollagen-proline 4-dioxygenase activity
- L-ascorbic acid binding
- iron ion binding
- calcium ion binding
- oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors