P4HA1 Gene Summary [Human]
This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | P4HA1 |
| Official Name | prolyl 4-hydroxylase subunit alpha 1 [Source:HGNC Symbol;Acc:HGNC:8546] |
| Ensembl ID | ENSG00000122884 |
| Bio databases IDs | |
| Aliases | prolyl 4-hydroxylase subunit alpha 1, collagen prolyl 4-hydroxylase alpha(I) |
| Synonyms | P4h, P4HA, P4Halpha(I), PHalphaI, procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha 1 polypeptide, procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), α 1 polypeptide, Prolyl 4 Hydroxylase Alpha 1 Subunit, prolyl 4-hydroxylase subunit alpha 1, prolyl 4-hydroxylase subunit α 1, Prolyl 4-Hydroxylase α, Prolyl 4 Hydroxylase α 1 Subunit, prolyl 4 hydroxylase α i, PROPYL 4-HYDROXYLASE alpha subunit, PROPYL 4-HYDROXYLASE α subunit |
| 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 P4HA1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- procollagen-proline dioxygenase
- enzyme
- protein binding
- Prolyl 4-Hydroxylase alpha-subunit, N-terminal region
- 2OG-Fe(II) oxygenase superfamily
- identical protein binding
- Prolyl 4-hydroxylase alpha subunit homologues
Pathways
Biological processes and signaling networks where the P4HA1 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
- colorectal cancer
- SERPINH1 R222S mutation positive severe osteogenesis imperfecta
- colorectal neoplasm
- colorectal neoplasia
- colon cancer
- organismal death
- endometriosis
- atrial fibrillation
- Waldenström macroglobulinemia
- Huntington disease
role in cell
- expression in
- proliferation
- morphology
- binding in
- softness
- angiogenesis by
- organization
- columnarization
- 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.
- Cytoplasm
- pH resistant lipid raft fraction
- intracellular membrane-bounded organelle
- perinuclear region
- Endoplasmic Reticulum
- Mitochondria
- endoplasmic reticulum lumen
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human P4HA1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- collagen fibril organization
- peptidyl-proline hydroxylation to 4-hydroxy-L-proline
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum lumen
- intracellular membrane-bounded organelle
- mitochondrion
- membrane
- endoplasmic reticulum
- procollagen-proline 4-dioxygenase complex
Molecular Function
What the gene product does at the molecular level
- procollagen-proline 4-dioxygenase activity
- L-ascorbic acid binding
- identical protein binding
- protein binding
- iron ion binding