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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Enzymes Human disease related genes Metabolic proteins Potential drug targets
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
17
Cytoband
p13.1
Chromosome location (bp)
8095900 - 8119047
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Non-heme iron-containing lipoxygenase which is atypical in that it displays a prominent hydroperoxide isomerase activity and a reduced lipoxygenases activity 1,2,3,4. The hydroperoxide isomerase activity catalyzes the isomerization of hydroperoxides, derived from arachidonic and linoleic acid by ALOX12B, into hepoxilin-type epoxyalcohols and ketones 5,6,7. In presence of oxygen, oxygenates polyunsaturated fatty acids, including arachidonic acid, to produce fatty acid hydroperoxides 8. 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 9. Therefore plays a crucial role in the synthesis of corneocytes lipid envelope and the establishment of the skin barrier to water loss 10. In parallel, it may have a signaling function in barrier formation through the production of hepoxilins metabolites 11. Also plays a role in adipocyte differentiation through hepoxilin A3 and hepoxilin B3 production which in turn activate PPARG (By similarity). Through the production of hepoxilins in the spinal cord, it may regulate inflammatory tactile allodynia (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Dioxygenase, Isomerase, Lyase, Oxidoreductase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Fatty acid metabolism, Lipid metabolism
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Iron, Metal-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Enzymes ENZYME proteins Lyases Isomerase Metabolic proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital malformations Congenital malformations of skin Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0001676[long-chain fatty acid metabolic process] GO:0005506[iron ion binding] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006629[lipid metabolic process] GO:0006631[fatty acid metabolic process] GO:0006665[sphingolipid metabolic process] GO:0006690[icosanoid metabolic process] GO:0016491[oxidoreductase activity] GO:0016702[oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen] GO:0016829[lyase activity] GO:0016853[isomerase activity] GO:0019233[sensory perception of pain] GO:0019369[arachidonic acid metabolic process] GO:0019372[lipoxygenase pathway] GO:0034440[lipid oxidation] GO:0035357[peroxisome proliferator activated receptor signaling pathway] GO:0043651[linoleic acid metabolic process] GO:0045444[fat cell differentiation] GO:0046513[ceramide biosynthetic process] GO:0046872[metal ion binding] GO:0050486[intramolecular transferase activity, transferring hydroxy groups] GO:0051120[hepoxilin A3 synthase activity] GO:0051122[hepoxilin biosynthetic process] GO:0051213[dioxygenase activity] GO:0061436[establishment of skin barrier] GO:0106255[hydroperoxy icosatetraenoate isomerase activity] GO:0106256[hydroperoxy icosatetraenoate dehydratase activity]
Enzymes ENZYME proteins Lyases Isomerase Metabolic proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital malformations Congenital malformations of skin Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0001676[long-chain fatty acid metabolic process] GO:0005506[iron ion binding] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006629[lipid metabolic process] GO:0006631[fatty acid metabolic process] GO:0006665[sphingolipid metabolic process] GO:0006690[icosanoid metabolic process] GO:0016491[oxidoreductase activity] GO:0016702[oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen] GO:0016829[lyase activity] GO:0016853[isomerase activity] GO:0019233[sensory perception of pain] GO:0019369[arachidonic acid metabolic process] GO:0019372[lipoxygenase pathway] GO:0034440[lipid oxidation] GO:0035357[peroxisome proliferator activated receptor signaling pathway] GO:0043651[linoleic acid metabolic process] GO:0045444[fat cell differentiation] GO:0046513[ceramide biosynthetic process] GO:0046872[metal ion binding] GO:0050486[intramolecular transferase activity, transferring hydroxy groups] GO:0051120[hepoxilin A3 synthase activity] GO:0051122[hepoxilin biosynthetic process] GO:0051213[dioxygenase activity] GO:0061436[establishment of skin barrier] GO:0106255[hydroperoxy icosatetraenoate isomerase activity] GO:0106256[hydroperoxy icosatetraenoate dehydratase activity]
Enzymes ENZYME proteins Lyases Isomerase Metabolic proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Congenital malformations Congenital malformations of skin Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
Show all
GO:0001676[long-chain fatty acid metabolic process] GO:0005506[iron ion binding] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006629[lipid metabolic process] GO:0006631[fatty acid metabolic process] GO:0006665[sphingolipid metabolic process] GO:0006690[icosanoid metabolic process] GO:0016491[oxidoreductase activity] GO:0016702[oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen] GO:0016829[lyase activity] GO:0016853[isomerase activity] GO:0019233[sensory perception of pain] GO:0019369[arachidonic acid metabolic process] GO:0019372[lipoxygenase pathway] GO:0034440[lipid oxidation] GO:0035357[peroxisome proliferator activated receptor signaling pathway] GO:0043651[linoleic acid metabolic process] GO:0045444[fat cell differentiation] GO:0046513[ceramide biosynthetic process] GO:0046872[metal ion binding] GO:0050486[intramolecular transferase activity, transferring hydroxy groups] GO:0051120[hepoxilin A3 synthase activity] GO:0051122[hepoxilin biosynthetic process] GO:0051213[dioxygenase activity] GO:0061436[establishment of skin barrier] GO:0106255[hydroperoxy icosatetraenoate isomerase activity] GO:0106256[hydroperoxy icosatetraenoate dehydratase activity]
The Human Protein Atlas project is funded
