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

Gene name
RPE65, LCA2, RP20, mRPE65, rd12, sRPE65
Definition
retinal pigment epithelium-specific protein 65kDa (EC:3.1.1.64)
Orthology
K11158  
retinoid isomerohydrolase [EC:3.1.1.64]
Organism
hsa  Homo sapiens (human)
Pathway
Retinol metabolism
Disease
H00527  
Retinitis pigmentosa (RP)
H00837  
Leber congenital amaurosis (LCR)
Class
Metabolism; Metabolism of cofactors and vitamins; Retinol metabolism [PATH:hsa00830]
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: 
Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
1p31
AA seq 533 aa AA seqDB search
MSIQVEHPAGGYKKLFETVEELSSPLTAHVTGRIPLWLTGSLLRCGPGLFEVGSEPFYHL
FDGQALLHKFDFKEGHVTYHRRFIRTDAYVRAMTEKRIVITEFGTCAFPDPCKNIFSRFF
SYFRGVEVTDNALVNVYPVGEDYYACTETNFITKINPETLETIKQVDLCNYVSVNGATAH
PHIENDGTVYNIGNCFGKNFSIAYNIVKIPPLQADKEDPISKSEIVVQFPCSDRFKPSYV
HSFGLTPNYIVFVETPVKINLFKFLSSWSLWGANYMDCFESNETMGVWLHIADKKRKKYL
NNKYRTSPFNLFHHINTYEDNGFLIVDLCCWKGFEFVYNYLYLANLRENWEEVKKNARKA
PQPEVRRYVLPLNIDKADTGKNLVTLPNTTATAILCSDETIWLEPEVLFSGPRQAFEFPQ
INYQKYCGKPYTYAYGLGLNHFVPDRLCKLNVKTKETWVWQEPDSYPSEPIFVSHPDALE
EDDGVVLSVVVSPGAGQKPAYLLILNAKDLSEVARAEVEINIPVTFHGLFKKS
NT seq 1602 nt NT seq  +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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