EGLN1 Gene Summary [Human]
The protein encoded by this gene catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. HIF is a transcriptional complex that plays a central role in mammalian oxygen homeostasis. This protein functions as a cellular oxygen sensor, and under normal oxygen concentration, modification by prolyl hydroxylation is a key regulatory event that targets HIF subunits for proteasomal destruction via the von Hippel-Lindau ubiquitylation complex. Mutations in this gene are associated with erythrocytosis familial type 3 (ECYT3). [provided by RefSeq, Nov 2009]
Details
| Type | Protein Coding |
| Official Symbol | EGLN1 |
| Official Name | egl-9 family hypoxia inducible factor 1 [Source:HGNC Symbol;Acc:HGNC:1232] |
| Ensembl ID | ENSG00000135766 |
| Bio databases IDs | |
| Aliases | egl-9 family hypoxia inducible factor 1, HIF prolyl hydroxylase 2 |
| Synonyms | C1orf12, ECYT3, egl-9 family hypoxia-inducible factor 1, HALAH, Hif-p4h-2, HIF-PH2, HPH-2, ORF13, PHD-2, SM-20, ZMYND6 |
| 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 EGLN1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ferrous iron binding
- MYND finger
- 2-oxoglutarate:oxygen oxidoreductase
- enzyme inhibitor activity
- enzyme binding
- enzyme
- protein binding
- 2OG-Fe(II) oxygenase superfamily
- Prolyl 4-hydroxylase alpha subunit homologues
Pathways
Biological processes and signaling networks where the EGLN1 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
- neoplasia
- hypertension
- neurodegeneration
- hepatic steatosis
- erythrocytosis
- familial erythrocytosis 3
- dilated cardiomyopathy
- head and neck squamous cell carcinoma
- head and neck squamous cell cancer
- cutaneous mastocytosis
role in cell
- apoptosis
- expression in
- proliferation
- production in
- cell viability
- cellular infiltration by
- synthesis in
- phosphorylation in
- activation in
- ubiquitination 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
- glutaminergic synapse
- intracellular membrane-bounded organelle
- Nucleus
- Mitochondria
- cytosol
- postsynaptic density
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EGLN1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of angiogenesis
- negative regulation of sequence-specific DNA binding transcription factor activity
- positive regulation of transcription from RNA polymerase II promoter
- ventricular septum morphogenesis
- heart trabecula formation
- labyrinthine layer development
- cellular iron ion homeostasis
- response to hypoxia
- negative regulation of cyclic-nucleotide phosphodiesterase activity
- oxygen homeostasis
- cellular response to hypoxia
- response to nitric oxide
- peptidyl-proline hydroxylation to 4-hydroxy-L-proline
- cardiac muscle tissue morphogenesis
Cellular Component
Where in the cell the gene product is active
- nucleus
- postsynaptic density
- cytoplasm
- intracellular membrane-bounded organelle
- cytosol
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
- peptidyl-proline dioxygenase activity
- enzyme binding