InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ALOX12B

Summary

InnateDB Protein

IDBP-27815.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ALOX12B

Protein Name

arachidonate 12-lipoxygenase, 12R type

Synonyms

12R-LOX; ARCI2;

Species

Homo sapiens

Ensembl Protein

ENSP00000315167

InnateDB Gene

IDBG-27811 (ALOX12B)

Protein Structure

UniProt Annotation

Function

Non-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:0000269PubMed:21558561, ECO:0000269PubMed:22441738, ECO:0000269PubMed:9618483}.

Subcellular Localization

Cytoplasm {ECO:0000255PROSITE- ProRule:PRU00726}.

Disease Associations

Ichthyosis, 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: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

Expressed in B-cells, hair follicles, foreskin keratinocytes and adult skin. Also expressed in psoriatic tissue. {ECO:0000269PubMed:9618483}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0004052	arachidonate 12-lipoxygenase activity
GO:0005506	iron ion binding
GO:0005515	protein binding
GO:0016702	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen
GO:0046872	metal ion binding
GO:1990136	linoleate 9S-lipoxygenase activity

Biological Process

GO:0006497	protein lipidation
GO:0006665	sphingolipid metabolic process
GO:0010628	positive regulation of gene expression
GO:0019369	arachidonic acid metabolic process
GO:0019372	lipoxygenase pathway
GO:0043410	positive regulation of MAPK cascade
GO:0043651	linoleic acid metabolic process
GO:0044281	small molecule metabolic process
GO:0046513	ceramide biosynthetic process
GO:0051122	hepoxilin biosynthetic process
GO:0055114	oxidation-reduction process
GO:0061436	establishment of skin barrier
GO:0070257	positive regulation of mucus secretion