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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 FDA approved drug targets 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
1
Cytoband
p31.3
Chromosome location (bp)
68428822 - 68449954
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Critical isomerohydrolase in the retinoid cycle involved in regeneration of 11-cis-retinal, the chromophore of rod and cone opsins. Catalyzes the cleavage and isomerization of all-trans-retinyl fatty acid esters to 11-cis-retinol which is further oxidized by 11-cis retinol dehydrogenase to 11-cis-retinal for use as visual chromophore 1. Essential for the production of 11-cis retinal for both rod and cone photoreceptors 2. Also capable of catalyzing the isomerization of lutein to meso-zeaxanthin an eye-specific carotenoid 3. The soluble form binds vitamin A (all-trans-retinol), making it available for LRAT processing to all-trans-retinyl ester. The membrane form, palmitoylated by LRAT, binds all-trans-retinyl esters, making them available for IMH (isomerohydrolase) processing to all-cis-retinol. The soluble form is regenerated by transferring its palmitoyl groups onto 11-cis-retinol, a reaction catalyzed by LRAT (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Hydrolase, Isomerase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Lipid metabolism, Sensory transduction, Vision
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
The protein encoded by this gene is a component of the vitamin A visual cycle of the retina which supplies the 11-cis retinal chromophore of the photoreceptors opsin visual pigments. It is a member of the carotenoid cleavage oxygenase superfamily. All members of this superfamily are non-heme iron oxygenases with a seven-bladed propeller fold and oxidatively cleave carotenoid carbon:carbon double bonds. However, the protein encoded by this gene has acquired a divergent function that involves the concerted O-alkyl ester cleavage of its all-trans retinyl ester substrate and all-trans to 11-cis double bond isomerization of the retinyl moiety. As such, it performs the essential enzymatic isomerization step in the synthesis of 11-cis retinal. Mutations in this gene are associated with early-onset severe blinding disorders such as Leber congenital. [provided by RefSeq, Oct 2017]...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 Hydrolases Isomerase Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes FDA approved drug targets Biotech drugs Human disease related genes Nervous system diseases Eye disease Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
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GO:0001523[retinoid metabolic process] GO:0001786[phosphatidylserine binding] GO:0001895[retina homeostasis] GO:0003407[neural retina development] GO:0003824[catalytic activity] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005886[plasma membrane] GO:0006629[lipid metabolic process] GO:0006720[isoprenoid metabolic process] GO:0006776[vitamin A metabolic process] GO:0007601[visual perception] GO:0007623[circadian rhythm] GO:0008286[insulin receptor signaling pathway] GO:0009416[response to light stimulus] GO:0010468[regulation of gene expression] GO:0016020[membrane] GO:0016702[oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen] GO:0016787[hydrolase activity] GO:0016853[isomerase activity] GO:0031210[phosphatidylcholine binding] GO:0042572[retinol metabolic process] GO:0042574[retinal metabolic process] GO:0043010[camera-type eye development] GO:0043231[intracellular membrane-bounded organelle] GO:0044297[cell body] GO:0046872[metal ion binding] GO:0050251[retinol isomerase activity] GO:0050896[response to stimulus] GO:0050908[detection of light stimulus involved in visual perception] GO:0052884[all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity] GO:0052885[all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity] GO:0060041[retina development in camera-type eye] GO:0060042[retina morphogenesis in camera-type eye] GO:0071257[cellular response to electrical stimulus] GO:1901612[cardiolipin binding] GO:1901827[zeaxanthin biosynthetic process]
The Human Protein Atlas project is funded
