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MGP000131

UniProt Annotations

Entry Information
Gene Namearachidonate 12-lipoxygenase, 12R type
Protein EntryLX12B_HUMAN
UniProt IDO75342
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityArachidonate + O(2) = (5Z,8Z,10E,14Z)-(12R)- 12-hydroperoxyicosa-5,8,10,14-tetraenoate. {ECO:0000269|PubMed:21558561}.
CofactorName=Fe cation; Xref=ChEBI:CHEBI:24875; Evidence={ECO:0000255|PROSITE-ProRule:PRU00726}; Note=Binds 1 Fe cation per subunit. {ECO:0000255|PROSITE- ProRule:PRU00726};
DiseaseIchthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]: 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:0000269|PubMed:11773004, ECO:0000269|PubMed:16116617, ECO:0000269|PubMed:19131948, ECO:0000269|PubMed:19890349}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionNon-heme iron-containing dioxygenase that catalyzes the stereo-specific peroxidation of free and esterified polyunsaturated fatty acids generating a spectrum of bioactive lipid mediators. Mainly converts arachidonic acid to (12R)- hydroperoxyeicosatetraenoic acid/(12R)-HPETE and minor stereoisomers. In the skin, acts upstream of ALOXE3 on the lineolate 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. May also play a role in the regulation of the expression of airway mucins. {ECO:0000269|PubMed:21558561, ECO:0000269|PubMed:22441738, ECO:0000269|PubMed:9618483}.
InteractionQ9BYJ1:ALOXE3; NbExp=2; IntAct=EBI-6925925, EBI-6925949;
PathwayLipid metabolism; hydroperoxy eicosatetraenoic acid biosynthesis. {ECO:0000269|PubMed:21558561}.
PathwayLipid metabolism; sphingolipid metabolism. {ECO:0000269|PubMed:21558561}.
SimilarityBelongs to the lipoxygenase family. {ECO:0000305}.
SimilarityContains 1 lipoxygenase domain. {ECO:0000255|PROSITE- ProRule:PRU00726}.
SimilarityContains 1 PLAT domain. {ECO:0000255|PROSITE- ProRule:PRU00152}.
Subcellular LocationCytoplasm {ECO:0000255|PROSITE- ProRule:PRU00726}.
Tissue SpecificityExpressed in B-cells, hair follicles, foreskin keratinocytes and adult skin. Also expressed in psoriatic tissue. {ECO:0000269|PubMed:9618483}.
Web ResourceName=Protein Spotlight; Note=about water - Issue 153 of September 2013; URL="http://web.expasy.org/spotlight/back_issues/153/";
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