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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 Human disease related genes Metabolic proteins
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)
8072636 - 8087716
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Catalyzes the regio and stereo-specific incorporation of a single molecule of dioxygen into free and esterified polyunsaturated fatty acids generating lipid hydroperoxides that can be further reduced to the corresponding hydroxy species 1,2,3. 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 4. Therefore plays a crucial role in the synthesis of corneocytes lipid envelope and the establishment of the skin barrier to water loss 5. May also play a role in the regulation of the expression of airway mucins 6....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 encodes an enzyme involved in the conversion of arachidonic acid to 12R-hydroxyeicosatetraenoic acid. Mutations in this gene are associated with nonbullous congenital ichthyosiform erythroderma. [provided by RefSeq, Sep 2015]...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.
Metabolic proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Congenital malformations of skin Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0001676[long-chain fatty acid metabolic process] GO:0003824[catalytic activity] GO:0004052[arachidonate 12(S)-lipoxygenase activity] GO:0005506[iron ion binding] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006497[protein lipidation] GO:0006629[lipid metabolic process] GO:0006631[fatty acid metabolic process] GO:0006665[sphingolipid metabolic process] GO:0006690[icosanoid metabolic process] GO:0010628[positive regulation of gene expression] 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:0019369[arachidonic acid metabolic process] GO:0019372[lipoxygenase pathway] GO:0034440[lipid oxidation] GO:0043231[intracellular membrane-bounded organelle] GO:0043410[positive regulation of MAPK cascade] GO:0043651[linoleic acid metabolic process] GO:0046513[ceramide biosynthetic process] GO:0046872[metal ion binding] GO:0047677[arachidonate 8(R)-lipoxygenase activity] GO:0048471[perinuclear region of cytoplasm] GO:0051122[hepoxilin biosynthetic process] GO:0051213[dioxygenase activity] GO:0061436[establishment of skin barrier] GO:0070257[positive regulation of mucus secretion] GO:0106237[arachidonate 12(R)-lipoxygenase activity] GO:1990136[linoleate 9S-lipoxygenase activity]
Metabolic proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of skin Protein evidence (Ezkurdia et al 2014)
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GO:0005829[cytosol] GO:0006629[lipid 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:0032787[monocarboxylic acid metabolic process] GO:0034440[lipid oxidation] GO:0043231[intracellular membrane-bounded organelle] GO:0046872[metal ion binding] GO:0051213[dioxygenase activity]
The Human Protein Atlas project is funded
