EGLN3 Gene Summary [Human]
Enables peptidyl-proline 4-dioxygenase activity. Involved in several processes, including activation of cysteine-type endopeptidase activity involved in apoptotic process; peptidyl-proline hydroxylation to 4-hydroxy-L-proline; and response to hypoxia. Located in cytosol and nucleus. Implicated in renal cell carcinoma. Biomarker of clear cell renal cell carcinoma. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | EGLN3 |
| Official Name | egl-9 family hypoxia inducible factor 3 [Source:HGNC Symbol;Acc:HGNC:14661] |
| Ensembl ID | ENSG00000129521 |
| Bio databases IDs | |
| Aliases | egl-9 family hypoxia inducible factor 3, HIF prolyl hydroxylase 3 |
| Synonyms | 2610021G09Rik, egl-9 family hypoxia-inducible factor 3, HIFP4H3, HIFPH3, PHD-3, SM-20 |
| 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 EGLN3 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
- enzyme
- protein binding
- 2OG-Fe(II) oxygenase superfamily
- Prolyl 4-hydroxylase alpha subunit homologues
Pathways
Biological processes and signaling networks where the EGLN3 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
- colitis
- lung adenocarcinoma formation
- acute myeloid leukemia
- hyperglycemia
- renal clear cell adenocarcinoma
- renal clear cell cancer
- non-dialysis dependent chronic kidney disease
- open-angle glaucoma
- dialysis dependent chronic kidney disease
- dilated cardiomyopathy
role in cell
- expression in
- apoptosis
- growth
- production in
- phosphorylation in
- migration
- survival
- proliferation
- binding in
- activation 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
- cellular membrane
- Nucleus
- Mitochondria
- cytosol
- nucleoplasm
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EGLN3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to hypoxia
- apoptotic process
- cellular response to hypoxia
- activation of cysteine-type endopeptidase activity involved in apoptotic process
- regulation of neuron apoptotic process
- response to DNA damage stimulus
- protein hydroxylation
- peptidyl-proline hydroxylation to 4-hydroxy-L-proline
- regulation of cell proliferation
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- L-ascorbic acid binding
- protein binding
- ferrous iron 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
- peptidyl-proline 4-dioxygenase activity