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Showing Protein Retinoid isomerohydrolase (HMDBP13942)

IdentificationBiological propertiesGene propertiesProtein propertiesExternal linksReferencesXMLShow 0 metabolites
Identification
HMDB Protein ID HMDBP13942
Secondary Accession Numbers None
Name Retinoid isomerohydrolase
Synonyms
  1. All-trans-retinyl-palmitate hydrolase
  2. Lutein isomerase
  3. Meso-zeaxanthin isomerase
  4. Retinal pigment epithelium-specific 65 kDa protein
  5. Retinol isomerase
Gene Name RPE65
Protein Type Unknown
Biological Properties
General Function Not Available
Specific Function 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 (PubMed:15765048, PubMed:9843205, PubMed:23407971, PubMed:28500718). Essential for the production of 11-cis retinal for both rod and cone photoreceptors (PubMed:17251447). Also capable of catalyzing the isomerization of lutein to meso-zeaxanthin an eye-specific carotenoid. 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).
Pathways
  • Retinol metabolism
Reactions Not Available
GO Classification
Biological Process
retinol metabolic process
retina homeostasis
retinoid metabolic process
retina development in camera-type eye
insulin receptor signaling pathway
retinal metabolic process
neural retina development
visual perception
retina morphogenesis in camera-type eye
regulation of gene expression
detection of light stimulus involved in visual perception
circadian rhythm
zeaxanthin biosynthetic process
cellular response to electrical stimulus
Cellular Component
endoplasmic reticulum membrane
cytoplasm
plasma membrane
nucleus
cell body
membrane
Molecular Function
all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity
all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity
phosphatidylcholine binding
metal ion binding
oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen
phosphatidylserine binding
isomerase activity
cardiolipin binding
retinal isomerase activity
retinol isomerase activity
Cellular Location Not Available
Gene Properties
Chromosome Location Not Available
Locus Not Available
SNPs Not Available
Gene Sequence Not Available
Protein Properties
Number of Residues 533
Molecular Weight 61084.3
Theoretical pI 6.583
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence Not Available
GenBank ID Protein Not Available
UniProtKB/Swiss-Prot ID Q91ZQ5
UniProtKB/Swiss-Prot Entry Name RPE65_MOUSE
PDB IDs Not Available
GenBank Gene ID Not Available
GeneCard ID Not Available
GenAtlas ID Not Available
HGNC ID Not Available
References
General References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  2. Wenzel A, von Lintig J, Oberhauser V, Tanimoto N, Grimm C, Seeliger MW: RPE65 is essential for the function of cone photoreceptors in NRL-deficient mice. Invest Ophthalmol Vis Sci. 2007 Feb;48(2):534-42. [PubMed:17251447 ]
  3. Church DM, Goodstadt L, Hillier LW, Zody MC, Goldstein S, She X, Bult CJ, Agarwala R, Cherry JL, DiCuccio M, Hlavina W, Kapustin Y, Meric P, Maglott D, Birtle Z, Marques AC, Graves T, Zhou S, Teague B, Potamousis K, Churas C, Place M, Herschleb J, Runnheim R, Forrest D, Amos-Landgraf J, Schwartz DC, Cheng Z, Lindblad-Toh K, Eichler EE, Ponting CP: Lineage-specific biology revealed by a finished genome assembly of the mouse. PLoS Biol. 2009 May 5;7(5):e1000112. doi: 10.1371/journal.pbio.1000112. Epub 2009 May 26. [PubMed:19468303 ]
  4. Li Y, Furhang R, Ray A, Duncan T, Soucy J, Mahdi R, Chaitankar V, Gieser L, Poliakov E, Qian H, Liu P, Dong L, Rogozin IB, Redmond TM: Aberrant RNA splicing is the major pathogenic effect in a knock-in mouse model of the dominantly inherited c.1430A>G human RPE65 mutation. Hum Mutat. 2019 Apr;40(4):426-443. doi: 10.1002/humu.23706. Epub 2019 Jan 25. [PubMed:30628748 ]
  5. Pang JJ, Chang B, Hawes NL, Hurd RE, Davisson MT, Li J, Noorwez SM, Malhotra R, McDowell JH, Kaushal S, Hauswirth WW, Nusinowitz S, Thompson DA, Heckenlively JR: Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA). Mol Vis. 2005 Feb 28;11:152-62. [PubMed:15765048 ]
  6. Boulanger A, Liu S, Yu S, Redmond TM: Sequence and structure of the mouse gene for RPE65. Mol Vis. 2001 Dec 10;7:283-7. [PubMed:11740468 ]
  7. Redmond TM, Yu S, Lee E, Bok D, Hamasaki D, Chen N, Goletz P, Ma JX, Crouch RK, Pfeifer K: Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle. Nat Genet. 1998 Dec;20(4):344-51. doi: 10.1038/3813. [PubMed:9843205 ]
  8. Sheridan C, Boyer NP, Crouch RK, Koutalos Y: RPE65 and the Accumulation of Retinyl Esters in Mouse Retinal Pigment Epithelium. Photochem Photobiol. 2017 May;93(3):844-848. doi: 10.1111/php.12738. [PubMed:28500718 ]
  9. Li S, Lee J, Zhou Y, Gordon WC, Hill JM, Bazan NG, Miner JH, Jin M: Fatty acid transport protein 4 (FATP4) prevents light-induced degeneration of cone and rod photoreceptors by inhibiting RPE65 isomerase. J Neurosci. 2013 Feb 13;33(7):3178-89. doi: 10.1523/JNEUROSCI.2428-12.2013. [PubMed:23407971 ]
  10. Choi EH, Suh S, Sander CL, Hernandez CJO, Bulman ER, Khadka N, Dong Z, Shi W, Palczewski K, Kiser PD: Insights into the pathogenesis of dominant retinitis pigmentosa associated with a D477G mutation in RPE65. Hum Mol Genet. 2018 Jul 1;27(13):2225-2243. doi: 10.1093/hmg/ddy128. [PubMed:29659842 ]