ALOXE3 Gene Summary [Human]
This gene is a member of the lipoxygenase family, which are catabolized by arachidonic acid-derived compounds. The encoded enzyme is a hydroperoxide isomerase that synthesizes a unique type of epoxy alcohol (8R-hydroxy-11R,12R-epoxyeicosa-5Z,9E,14Z-trienoic acid) from 12R-hydroperoxyeicosatetraenoic acid (12R-HPETE). This epoxy alcohol can activate the the nuclear receptor peroxisome proliferator-activated receptor alpha (PPARalpha), which is implicated in epidermal differentiation. Loss of function of the enzyme encoded by this gene results in ichthyosis, implicating the function of this gene in the differentiation of human skin. This gene is part of a cluster of lipoxygenase genes on 17p13.1. Mutations in this gene result in nonbullous congenital ichthyosiform erythroderma (NCIE). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
Details
| Type | Protein Coding |
| Official Symbol | ALOXE3 |
| Official Name | arachidonate lipoxygenase 3 [Source:HGNC Symbol;Acc:HGNC:13743] |
| Ensembl ID | ENSG00000179148 |
| Bio databases IDs | |
| Aliases | arachidonate lipoxygenase 3, Epidermal lipoxygenase-3, hydroperoxide isomerase |
| Synonyms | arachidonate epidermal lipoxygenase 3, arachidonate lipoxygenase 3, ARCI3, E-LOX, e-LOX-3, LI5 |
| 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 ALOXE3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- intramolecular transferase activity, transferring hydroxy groups
- PLAT
- enzyme
- protein binding
- single donor 2 atom incorporation:oxygen oxidoreductase
- Lipoxygenase homology 2 (beta barrel) domain
Pathways
Biological processes and signaling networks where the ALOXE3 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
- autosomal recessive congenital ichthyosis type 3
- lamellar ichthyosis
- psoriasis
- colorectal cancer
- allodynia
- autosomal recessive ichthyosis
- desquamation
- autosomal recessive congenital ichthyosis type 2
- hyperkeratosis
- skin barrier defect
regulates
- luciferase reporter gene
- hepoxilin B3
- linoleic acid
- lipid
- omega-O-acylceramide
- omega-O-acylphytoceramide
- omega-O-acylglucosylceramide
- arachidonic acid
- hepoxilin
- sphingolipid
role in cell
- formation in
- differentiation
- transactivation in
- adipogenesis
- adipogenesis 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.
- Extracellular Space
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ALOXE3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- hepoxilin biosynthetic process
- lipoxygenase pathway
- lipid oxidation
- linoleic acid metabolic process
- sensory perception of pain
- ceramide biosynthetic process
- fat cell differentiation
- arachidonic acid metabolic process
- peroxisome proliferator activated receptor signaling pathway
- establishment of skin barrier
- sphingolipid metabolic process
Cellular Component
Where in the cell the gene product is active
- cytosol
Molecular Function
What the gene product does at the molecular level
- intramolecular transferase activity, transferring hydroxy groups
- oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen
- protein binding
- iron ion binding
- hepoxilin A3 synthase activity