| Entry |
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| Gene name |
RPE65, LCA2, RP20, mRPE65, rd12, sRPE65
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| Definition |
retinal pigment epithelium-specific protein 65kDa (EC:3.1.1.64)
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| Orthology |
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| Organism |
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| Pathway |
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| Disease |
| Retinitis pigmentosa (RP) | | Leber congenital amaurosis (LCR) |
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| Class |
Metabolism; Metabolism of cofactors and vitamins; Retinol metabolism [PATH: hsa00830]
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| SSDB |
   |
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| Motif |
 |
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| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
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| Position |
1p31
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| AA seq |
533 aa  
MSIQVEHPAGGYKKLFETVEELSSPLTAHVTGRIPLWLTGSLLRCGPGLFEVGSEPFYHL
FDGQALLHKFDFKEGHVTYHRRFIRTDAYVRAMTEKRIVITEFGTCAFPDPCKNIFSRFF
SYFRGVEVTDNALVNVYPVGEDYYACTETNFITKINPETLETIKQVDLCNYVSVNGATAH
PHIENDGTVYNIGNCFGKNFSIAYNIVKIPPLQADKEDPISKSEIVVQFPCSDRFKPSYV
HSFGLTPNYIVFVETPVKINLFKFLSSWSLWGANYMDCFESNETMGVWLHIADKKRKKYL
NNKYRTSPFNLFHHINTYEDNGFLIVDLCCWKGFEFVYNYLYLANLRENWEEVKKNARKA
PQPEVRRYVLPLNIDKADTGKNLVTLPNTTATAILCSDETIWLEPEVLFSGPRQAFEFPQ
INYQKYCGKPYTYAYGLGLNHFVPDRLCKLNVKTKETWVWQEPDSYPSEPIFVSHPDALE
EDDGVVLSVVVSPGAGQKPAYLLILNAKDLSEVARAEVEINIPVTFHGLFKKS |
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| 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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