Homo sapiens (human): 6121
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Entry
6121 CDS
T01001
Symbol
RPE65, BCO3, LCA2, RP20, mRPE65, p63, rd12, sRPE65
Name
(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
hsa01100
Metabolic pathways
Disease
H00527
Retinitis pigmentosa
H00837
Leber congenital amaurosis
Drug target
Voretigene neparvovec:
D11008
<US>
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)
BRITE hierarchy
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
RPE65
Endonuc_Holl
Motif
Other DBs
NCBI-GeneID:
6121
NCBI-ProteinID:
NP_000320
OMIM:
180069
HGNC:
10294
Ensembl:
ENSG00000116745
Pharos:
Q16518
(Tbio)
UniProt:
Q16518
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All DBs
Position
1:complement(68428822..68449954)
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AA seq
533 aa
AA seq
DB search
MSIQVEHPAGGYKKLFETVEELSSPLTAHVTGRIPLWLTGSLLRCGPGLFEVGSEPFYHL
FDGQALLHKFDFKEGHVTYHRRFIRTDAYVRAMTEKRIVITEFGTCAFPDPCKNIFSRFF
SYFRGVEVTDNALVNVYPVGEDYYACTETNFITKINPETLETIKQVDLCNYVSVNGATAH
PHIENDGTVYNIGNCFGKNFSIAYNIVKIPPLQADKEDPISKSEIVVQFPCSDRFKPSYV
HSFGLTPNYIVFVETPVKINLFKFLSSWSLWGANYMDCFESNETMGVWLHIADKKRKKYL
NNKYRTSPFNLFHHINTYEDNGFLIVDLCCWKGFEFVYNYLYLANLRENWEEVKKNARKA
PQPEVRRYVLPLNIDKADTGKNLVTLPNTTATAILCSDETIWLEPEVLFSGPRQAFEFPQ
INYQKYCGKPYTYAYGLGLNHFVPDRLCKLNVKTKETWVWQEPDSYPSEPIFVSHPDALE
EDDGVVLSVVVSPGAGQKPAYLLILNAKDLSEVARAEVEINIPVTFHGLFKKS
NT seq
1602 nt
NT seq
+upstream
nt +downstream
nt
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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