KEGG   Homo sapiens (human): 6121
Entry
6121              CDS       T01001                                 

Gene name
RPE65, BCO3, LCA2, RP20, mRPE65, p63, rd12, sRPE65
Definition
(RefSeq) retinoid isomerohydrolase RPE65
  KO
K11158  retinoid isomerohydrolase / lutein isomerase [EC:3.1.1.64 5.3.3.22]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00830  Retinol metabolism
Disease
H00527  Retinitis pigmentosa
H00837  Leber congenital amaurosis
Drug target
Voretigene neparvovec: D11008
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09108 Metabolism of cofactors and vitamins
   00830 Retinol metabolism
    6121 (RPE65)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.1  Acting on ester bonds
   3.1.1  Carboxylic-ester hydrolases
    3.1.1.64  retinoid isomerohydrolase
     6121 (RPE65)
 5. Isomerases
  5.3  Intramolecular oxidoreductases
   5.3.3  Transposing C=C bonds
    5.3.3.22  lutein isomerase
     6121 (RPE65)
SSDB
Motif
Pfam: RPE65 Endonuc_Holl
Other DBs
NCBI-GeneID: 6121
NCBI-ProteinID: NP_000320
OMIM: 180069
HGNC: 10294
Ensembl: ENSG00000116745
Vega: OTTHUMG00000009208
Pharos: Q16518(Tbio)
UniProt: Q16518
LinkDB
Position
1p31.3
AA seq 533 aa
MSIQVEHPAGGYKKLFETVEELSSPLTAHVTGRIPLWLTGSLLRCGPGLFEVGSEPFYHL
FDGQALLHKFDFKEGHVTYHRRFIRTDAYVRAMTEKRIVITEFGTCAFPDPCKNIFSRFF
SYFRGVEVTDNALVNVYPVGEDYYACTETNFITKINPETLETIKQVDLCNYVSVNGATAH
PHIENDGTVYNIGNCFGKNFSIAYNIVKIPPLQADKEDPISKSEIVVQFPCSDRFKPSYV
HSFGLTPNYIVFVETPVKINLFKFLSSWSLWGANYMDCFESNETMGVWLHIADKKRKKYL
NNKYRTSPFNLFHHINTYEDNGFLIVDLCCWKGFEFVYNYLYLANLRENWEEVKKNARKA
PQPEVRRYVLPLNIDKADTGKNLVTLPNTTATAILCSDETIWLEPEVLFSGPRQAFEFPQ
INYQKYCGKPYTYAYGLGLNHFVPDRLCKLNVKTKETWVWQEPDSYPSEPIFVSHPDALE
EDDGVVLSVVVSPGAGQKPAYLLILNAKDLSEVARAEVEINIPVTFHGLFKKS
NT seq 1602 nt   +upstreamnt  +downstreamnt
atgtctatccaggttgagcatcctgctggtggttacaagaaactgtttgaaactgtggag
gaactgtcctcgccgctcacagctcatgtaacaggcaggatccccctctggctcaccggc
agtctccttcgatgtgggccaggactctttgaagttggatctgagccattttaccacctg
tttgatgggcaagccctcctgcacaagtttgactttaaagaaggacatgtcacataccac
agaaggttcatccgcactgatgcttacgtacgggcaatgactgagaaaaggatcgtcata
acagaatttggcacctgtgctttcccagatccctgcaagaatatattttccaggtttttt
tcttactttcgaggagtagaggttactgacaatgcccttgttaatgtctacccagtgggg
gaagattactacgcttgcacagagaccaactttattacaaagattaatccagagaccttg
gagacaattaagcaggttgatctttgcaactatgtctctgtcaatggggccactgctcac
ccccacattgaaaatgatggaaccgtttacaatattggtaattgctttggaaaaaatttt
tcaattgcctacaacattgtaaagatcccaccactgcaagcagacaaggaagatccaata
agcaagtcagagatcgttgtacaattcccctgcagtgaccgattcaagccatcttacgtt
catagttttggtctgactcccaactatatcgtttttgtggagacaccagtcaaaattaac
ctgttcaagttcctttcttcatggagtctttggggagccaactacatggattgttttgag
tccaatgaaaccatgggggtttggcttcatattgctgacaaaaaaaggaaaaagtacctc
aataataaatacagaacttctcctttcaacctcttccatcacatcaacacctatgaagac
aatgggtttctgattgtggatctctgctgctggaaaggatttgagtttgtttataattac
ttatatttagccaatttacgtgagaactgggaagaggtgaaaaaaaatgccagaaaggct
ccccaacctgaagttaggagatatgtacttcctttgaatattgacaaggctgacacaggc
aagaatttagtcacgctccccaatacaactgccactgcaattctgtgcagtgacgagact
atctggctggagcctgaagttctcttttcagggcctcgtcaagcatttgagtttcctcaa
atcaattaccagaagtattgtgggaaaccttacacatatgcgtatggacttggcttgaat
cactttgttccagataggctctgtaagctgaatgtcaaaactaaagaaacttgggtttgg
caagagcctgattcatacccatcagaacccatctttgtttctcacccagatgccttggaa
gaagatgatggtgtagttctgagtgtggtggtgagcccaggagcaggacaaaagcctgct
tatctcctgattctgaatgccaaggacttaagtgaagttgcccgggctgaagtggagatt
aacatccctgtcacctttcatggactgttcaaaaaatcttga

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