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Index > Protein center > RPE65(Gene name) > Human
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  • RPE65 (Gene name),
  • Retinoid isomerohydrolase (Protein name ),  RPE65_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • 3D
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  • Predicted Eptitope
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  • Vaild Sequence
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  • Gene name:
    RPE65;
    Protein name:
    Retinoid isomerohydrolase;
    Alternative:
    Retinal pigment epithelium-specific 65 kDa protein;All-trans-retinyl-palmitate hydrolase;Retinol isomerase;
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    N/A
    Function:
    Plays important roles in the production of 11-cis retinal and in visual pigment regeneration. 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. The enzymatic activity is linearly dependent of the expression levels and membrane association.
    Subcellular Location:
    Cytoplasm Cell membrane Lipid-anchor Attached to the membrane by a lipid anchor when palmitoylated (membrane form), soluble when unpalmitoylated.
    Protein Attributes:
    Sequence length:
    533
    Sequence:
    50:
    MSIQVEHPAG | GYKKLFETVE | ELSSPLTAHV | TGRIPLWLTG | SLLRCGPGLF | 
    100:
    EVGSEPFYHL | FDGQALLHKF | DFKEGHVTYH | RRFIRTDAYV | RAMTEKRIVI | 
    150:
    TEFGTCAFPD | PCKNIFSRFF | SYFRGVEVTD | NALVNVYPVG | EDYYACTETN | 
    200:
    FITKINPETL | ETIKQVDLCN | YVSVNGATAH | PHIENDGTVY | NIGNCFGKNF | 
    250:
    SIAYNIVKIP | PLQADKEDPI | SKSEIVVQFP | CSDRFKPSYV | HSFGLTPNYI | 
    300:
    VFVETPVKIN | LFKFLSSWSL | WGANYMDCFE | SNETMGVWLH | IADKKRKKYL | 
    350:
    NNKYRTSPFN | LFHHINTYED | NGFLIVDLCC | WKGFEFVYNY | LYLANLRENW | 
    400:
    EEVKKNARKA | PQPEVRRYVL | PLNIDKADTG | KNLVTLPNTT | ATAILCSDET | 
    450:
    IWLEPEVLFS | GPRQAFEFPQ | INYQKYCGKP | YTYAYGLGLN | HFVPDRLCKL | 
    500:
    NVKTKETWVW | QEPDSYPSEP | IFVSHPDALE | EDDGVVLSVV | VSPGAGQKPA | 
    533:
    YLLILNAKDL | SEVARAEVEI | NIPVTFHGLF | KKS
    3D Structure:
    N/A
    Predicted Eptitope:
    Please Sign in.
    EIAab Sequence  Vaild Sequence:
    Please Sign in.
    Related Databases
    String:
    MIM:
    SMR:
    KEGG:
    UniGene:
    Pfam:
    Uniprot:
     
    FOR
    ELISA Kit for Human Retinoid isomerohydrolase
    Cat.:
    E9829h
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    ELISA Kit for Human Retinoid isomerohydrolase
    MSDS:
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    ELISA Kit for Human Retinoid isomerohydrolase
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    ELISA Kit for Human Retinoid isomerohydrolase
    Cat.:
    E9829m
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    ELISA Kit for Human Retinoid isomerohydrolase
    Cat.:
    E9829r
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    ELISA Kit for Human Retinoid isomerohydrolase
    Cat.:
    E9829b
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    Packing:
    96T
    CLIA Kit for Human Retinoid isomerohydrolase
    Cat.:
    U9829r
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    Packing:
    96T
    CLIA Kit for Human Retinoid isomerohydrolase
    Cat.:
    U9829m
    Price:
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    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human Retinoid isomerohydrolase
    MSDS:
    Please sign in first.
    CLIA Kit for Human Retinoid isomerohydrolase
    MSDS:
    Please sign in first.
    CLIA Kit for Human Retinoid isomerohydrolase
    Cat.:
    U9829h
    Price:
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    MSDS:
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    Packing:
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    CLIA Kit for Human Retinoid isomerohydrolase
    Cat.:
    U9829b
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    MSDS:
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    Packing:
    96T
    Polyclonal Antibody for Human Retinoid isomerohydrolase
    Polyclonal Antibody for Human Retinoid isomerohydrolase
    Polyclonal Antibody for Human Retinoid isomerohydrolase
    Polyclonal Antibody for Human Retinoid isomerohydrolase
    Cat.:
    P9829Rb-h
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    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Retinoid isomerohydrolase
    Polyclonal Antibody for Human Retinoid isomerohydrolase
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    P9829Rb-m
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    Packing:
    40ug/0.2ml
    Monoclonal Antibody for Human Retinoid isomerohydrolase
    Monoclonal Antibody for Human Retinoid isomerohydrolase
    Monoclonal Antibody for Human Retinoid isomerohydrolase
    Monoclonal Antibody for Human Retinoid isomerohydrolase
    Monoclonal Antibody for Human Retinoid isomerohydrolase
    Monoclonal Antibody for Human Retinoid isomerohydrolase
    Protein for Human Retinoid isomerohydrolase
    Protein for Human Retinoid isomerohydrolase
    Protein for Human Retinoid isomerohydrolase
    Protein for Human Retinoid isomerohydrolase
    Protein for Human Retinoid isomerohydrolase
    Protein for Human Retinoid isomerohydrolase

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    Linearity
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    References
    1. 1.
      "Molecular characterization of the human gene encoding an abundant 61 kDa protein specific to the retinal pigment epithelium."
      Nicoletti A. , Wong D.J. , Kawase K. , Gibson L.H. , Yang-Feng T.L. , Richards J.E. , Thompson D.A.
      Hum. Mol. Genet.4:641-649(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]
      tissue: Retinal pigment epithelium.
    2. 2.
      "Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis."
      Morimura H. , Fishman G.A. , Grover S.A. , Fulton A.B. , Berson E.L. , Dryja T.P.
      Proc. Natl. Acad. Sci. U.S.A.95:3088-3093(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA];VARIANTS RP20 TRP-91; LYS-102; THR-132; SER-341; GLY-452 AND ASP-473
    3. 3.
      "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , more...
      Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
      tissue: Hippocampus.
    4. 4.
      "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G. , Barlow K.F. , McLay K.E. , Kaul R. , Swarbreck D. , Dunham A. , Scott C.E. , Howe K.L. , Woodfine K. , Spencer C.C.A. , Jones M.C. , Gillson C. , Searle S. , Zhou Y. , Kokocinski F. , McDonald L. , Evans R. , Phillips K. , more...
      Nature441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    5. 5.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    6. 6.
      "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
      tissue: Fetal brain.
    7. 7.
      "Identification of a novel palmitylation site essential for membrane association and isomerohydrolase activity of RPE65."
      Takahashi Y. , Moiseyev G. , Ablonczy Z. , Chen Y. , Crouch R.K. , Ma J.X.
      J. Biol. Chem.284:3211-3218(2009) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 98-118;PHOSPHORYLATION AT THR-101; THR-105 AND SER-117;PALMITOYLATION AT CYS-112;MUTAGENESIS OF CYS-106 AND CYS-112;ACETYLATION AT LYS-113;IDENTIFICATION BY MASS SPECTROMETRY
    8. 8.
      "Identification of conserved histidines and glutamic acid as key residues for isomerohydrolase activity of RPE65, an enzyme of the visual cycle in the retinal pigment epithelium."
      Takahashi Y. , Moiseyev G. , Chen Y. , Ma J.X.
      FEBS Lett.579:5414-5418(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: MUTAGENESIS OF HIS-180; HIS-241; HIS-313; GLU-469 AND HIS-527
    9. 9.
      "RPE65 is the isomerohydrolase in the retinoid visual cycle."
      Moiseyev G. , Chen Y. , Takahashi Y. , Wu B.X. , Ma J.X.
      Proc. Natl. Acad. Sci. U.S.A.102:12413-12418(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION
    10. 10.
      "The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65."
      Lopes V.S. , Gibbs D. , Libby R.T. , Aleman T.S. , Welch D.L. , Lillo C. , Jacobson S.G. , Radu R.A. , Steel K.P. , Williams D.S.
      Hum. Mol. Genet.20:2560-2570(2011) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SUBCELLULAR LOCATION;TISSUE SPECIFICITY;INTERACTION WITH MYO7A
    11. 11.
      "Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy."
      Gu S.M. , Thompson D.A. , Srikumari C.R. , Lorenz B. , Finckh U. , Nicoletti A. , Murthy K.R. , Rathmann M. , Kumaramanickavel G. , Denton M.J. , Gal A.
      Nat. Genet.17:194-197(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LCA2 THR-363
    12. 12.
      "Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene."
      Marlhens F. , Griffoin J.-M. , Bareil C. , Arnaud B. , Claustres M. , Hamel C.P.
      Eur. J. Hum. Genet.6:527-531(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS LCA2 PRO-22 AND TYR-68
    13. 13.
      "Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis."
      Perrault I. , Rozet J.-M. , Ghazi I. , Leowski C. , Bonnemaison M. , Gerber S. , Ducroq D. , Cabot A. , Souied E. , Dufier J.-L. , Munnich A. , Kaplan J.
      Am. J. Hum. Genet.64:1225-1228(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS LCA2 TYR-330; THR-363 AND VAL-434
    14. 14.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS LCA2 PHE-287; LYS-321 AND GLY-393
    15. 15.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS RP20 HIS-79; HIS-85; TRP-91; GLN-95; THR-132; TYR-167; THR-294; VAL-436 AND VAL-528
    16. 16.
      "Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis."
      Simovich M.J. , Miller B. , Ezzeldin H. , Kirkland B.T. , McLeod G. , Fulmer C. , Nathans J. , Jacobson S.G. , Pittler S.J.
      Hum. Mutat.18:164-164(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS LCA2 SER-40; GLN-44; GLN-91; ASP-144; TYR-182; LYS-321 AND GLN-417
    17. 17.
      "A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population."
      Yzer S. , van den Born L.I. , Schuil J. , Kroes H.Y. , van Genderen M.M. , Boonstra F.N. , van den Helm B. , Brunner H.G. , Koenekoop R.K. , Cremers F.P.
      J. Med. Genet.40:709-713(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT RP20 HIS-368
    18. 18.
      "Analysis of three genes in Leber congenital amaurosis in Indonesian patients."
      Sitorus R.S. , Lorenz B. , Preising M.N.
      Vision Res.43:3087-3093(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS LCA2 36-LEU--LEU-38 DEL AND CYS-435
    19. 19.
      "Thirty-year follow-up of a patient with Leber congenital amaurosis and novel RPE65 mutations."
      Al-Khayer K. , Hagstrom S. , Pauer G. , Zegarra H. , Sears J. , Traboulsi E.I.
      Am. J. Ophthalmol.137:375-377(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LCA2 CYS-431
    20. 20.
      "Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis."
      Hanein S. , Perrault I. , Gerber S. , Tanguy G. , Barbet F. , Ducroq D. , Calvas P. , Dollfus H. , Hamel C. , Lopponen T. , Munier F. , Santos L. , Shalev S. , Zafeiriou D. , Dufier J.-L. , Munnich A. , Rozet J.-M. , Kaplan J.
      Hum. Mutat.23:306-317(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS LCA2 GLN-44; ASP-148; ASN-182; TYR-330; THR-363; VAL-434 AND ASP-473
    21. 21.
      "A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers."
      Kondo H. , Qin M. , Mizota A. , Kondo M. , Hayashi H. , Hayashi K. , Oshima K. , Tahira T. , Hayashi K.
      Invest. Ophthalmol. Vis. Sci.45:4433-4439(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT RP20 TRP-515
    22. 22.
      "Evaluation of genotype-phenotype associations in Leber congenital amaurosis."
      Galvin J.A. , Fishman G.A. , Stone E.M. , Koenekoop R.K.
      Retina25:919-929(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS LCA2 SER-40; TRP-91; TYR-182; ASP-239; GLU-393 AND ASP-473
    23. 23.
      "Gene symbol: RPE65. Disease: Leber's congenital amaurosis. Accession #Hm0548."
      Gandra M. , Sundaramurthy S. , Kumaramanickavel G.
      Hum. Genet.118:780-780(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LCA2 LEU-470
    24. 24.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS LCA2 PRO-22; VAL-70; PRO-91; LYS-102; ASP-144; TYR-167 AND ARG-313
    25. 25.
      "Molecular characterization of Leber congenital amaurosis in Koreans."
      Seong M.W. , Kim S.Y. , Yu Y.S. , Hwang J.M. , Kim J.Y. , Park S.S.
      Mol. Vis.14:1429-1436(2008) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LCA2 TRP-91
    26. 26.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GLY-477;ROLE IN AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA WITH CHOROIDAL INVOLVEMENT
    27. 27.
      "Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis."
      Li L. , Xiao X. , Li S. , Jia X. , Wang P. , Guo X. , Jiao X. , Zhang Q. , Hejtmancik J.F.
      PLoS ONE6:E19458-E19458(2011) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ILE-99 AND ARG-333
    28. 28.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS RP20 VAL-70; TRP-91; ASP-239 AND HIS-368
    29. 29.
      "Novel RPE65 mutations associated with Leber congenital amaurosis in Chinese patients."
      Xu F. , Dong Q. , Liu L. , Li H. , Liang X. , Jiang R. , Sui R. , Dong F.
      Mol. Vis.18:744-750(2012) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ARG-67 AND CYS-368
    30. 30.
      "Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy."
      Kabir F. , Naz S. , Riazuddin S.A. , Naeem M.A. , Khan S.N. , Husnain T. , Akram J. , Sieving P.A. , Hejtmancik J.F. , Riazuddin S.
      Mol. Vis.19:1554-1564(2013) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT RP20 PRO-60
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