Homo sapiens Protein: ALOXE3 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-367269.4 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | ALOXE3 | ||||||||||||||||||||||
Protein Name | arachidonate lipoxygenase 3 | ||||||||||||||||||||||
Synonyms | |||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000400581 | ||||||||||||||||||||||
InnateDB Gene | IDBG-27882 (ALOXE3) | ||||||||||||||||||||||
Protein Structure |
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UniProt Annotation | |||||||||||||||||||||||
Function | Non-heme iron-containing lipoxygenase which is atypical in that it displays a prominent hydroperoxide isomerase activity and a reduced dioxygenase activity compared to other lipoxygenases. The hydroperoxide isomerase activity catalyzes the isomerization of hydroperoxides, derived from arachidonic and linoleic acid by ALOX12B, into hepoxilin-type epoxyalcohols. The dioxygenase activity requires a step of activation of the enzyme by molecular oxygen. In presence of oxygen, oxygenates polyunsaturated fatty acids, including arachidonic acid, to produce fatty acid hydroperoxides. In the skin, acts downstream of ALOX12B on the linoleate moiety of esterified omega-hydroxyacyl- sphingosine (EOS) ceramides to produce an epoxy-ketone derivative, a crucial step in the conjugation of omega-hydroxyceramide to membrane proteins. Therefore plays a crucial role in the synthesis of corneocytes lipid envelope and the establishment of the skin barrier to water loss. In parallel, it may have a signaling function in barrier formation through the production of hepoxilins metabolites. Plays also a role in adipocyte differentiation through hepoxilin A3 and hepoxilin B3 production which in turn activate PPARG. Through the production of hepoxilins in the spinal cord, it may regulate inflammatory tactile allodynia. {ECO:0000269PubMed:12881489, ECO:0000269PubMed:17045234, ECO:0000269PubMed:20921226, ECO:0000269PubMed:20923767, ECO:0000269PubMed:21558561}. | ||||||||||||||||||||||
Subcellular Localization | Cytoplasm {ECO:0000255PROSITE- ProRule:PRU00726}. | ||||||||||||||||||||||
Disease Associations | Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545]: A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. {ECO:0000269PubMed:11773004, ECO:0000269PubMed:16116617, ECO:0000269PubMed:19131948, ECO:0000269PubMed:19890349}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | Predominantly expressed in skin. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR001024
PLAT/LH2 domain IPR001885 Lipoxygenase, mammalian IPR008976 Lipase/lipooxygenase, PLAT/LH2 IPR013819 Lipoxygenase, C-terminal |
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PFAM |
PF01477
PF00305 |
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PRINTS |
PR00467
PR00087 |
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PIRSF | |||||||||||||||||||||||
SMART |
SM00308
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q9BYJ1 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q9BYJ1 | ||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 59344 | ||||||||||||||||||||||
UniGene | Hs.232770 | ||||||||||||||||||||||
RefSeq | NP_067641 | ||||||||||||||||||||||
HUGO | HGNC:13743 | ||||||||||||||||||||||
OMIM | 607206 | ||||||||||||||||||||||
CCDS | CCDS11130 | ||||||||||||||||||||||
HPRD | 06231 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AF182218 AJ269499 AJ305020 AJ305021 AJ305023 AJ305025 AK296416 AK313677 BC101938 BC101939 BC103508 BC104724 CH471108 | ||||||||||||||||||||||
GenPept | AAG16899 AAI01939 AAI01940 AAI03509 AAI04725 BAG36428 BAH12346 CAC12843 CAC34518 EAW90094 | ||||||||||||||||||||||