P3H4 Gene Summary [Human]
This nucleolar protein was first characterized because it was an autoantigen in cases on interstitial cystitis. The protein, with a predicted molecular weight of 50 kDa, appears to be localized in the particulate compartment of the interphase nucleolus, with a distribution distinct from that of nucleolar protein B23. During mitosis it is associated with chromosomes. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | P3H4 |
| Official Name | prolyl 3-hydroxylase family member 4 (inactive) [Source:HGNC Symbol;Acc:HGNC:16946] |
| Ensembl ID | ENSG00000141696 |
| Bio databases IDs | |
| Aliases | prolyl 3-hydroxylase family member 4 (inactive), synaptonemal complex 65 |
| Synonyms | 1110036O03Rik, AI413214, LEPREL4, NO55, NOL55, NUCLEOLAR AUTOANTIGEN NO55, prolyl 3-hydroxylase family member 4, prolyl 3-hydroxylase family member 4 (inactive), prolyl 3-hydroxylase family member 4 (non-enzymatic), SC65 |
| 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 P3H4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- organismal death
- lung adenocarcinoma
- lung adenocarcinoma formation
- SERPINH1 R222S mutation positive severe osteogenesis imperfecta
regulates
- collagen
role in cell
- formation
- abnormal morphology
- organization
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
- intracellular membrane-bounded organelle
- Endoplasmic Reticulum
- chromosome
- nucleoli
- synaptonemal complexes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human P3H4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- bone remodeling
- peptidyl-lysine hydroxylation
- synaptonemal complex assembly
- collagen fibril organization
- collagen biosynthetic process
Cellular Component
Where in the cell the gene product is active
- intracellular membrane-bounded organelle
- endoplasmic reticulum
- nucleolus
- synaptonemal complex
- condensed nuclear chromosome
Molecular Function
What the gene product does at the molecular level
- collagen binding