Homo sapiens (human): 50700
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Entry
50700 CDS
T01001
Symbol
RDH8, PRRDH, SDR28C2, STGD5
Name
(RefSeq) retinol dehydrogenase 8
KO
K11150
retinol dehydrogenase 8 [EC:1.1.1.-]
Organism
hsa
Homo sapiens (human)
Pathway
hsa00830
Retinol metabolism
hsa01100
Metabolic pathways
Disease
H00819
Stargardt disease
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09100 Metabolism
09108 Metabolism of cofactors and vitamins
00830 Retinol metabolism
50700 (RDH8)
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Gene cluster
GFIT
Motif
Pfam:
adh_short
adh_short_C2
KR
Eno-Rase_NADH_b
DUF1776
Motif
Other DBs
NCBI-GeneID:
50700
NCBI-ProteinID:
NP_056540
OMIM:
608575
HGNC:
14423
Ensembl:
ENSG00000080511
UniProt:
Q9NYR8
K7ELF7
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All DBs
Position
19:10013483..10022279
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AA seq
311 aa
AA seq
DB search
MAAAPRTVLISGCSSGIGLELAVQLAHDPKKRYQVVATMRDLGKKETLEAAAGEALGQTL
TVAQLDVCSDESVAQCLSCIQGEVDVLVNNAGMGLVGPLEGLSLAAMQNVFDTNFFGAVR
LVKAVLPGMKRRRQGHIVVISSVMGLQGVIFNDVYAASKFALEGFFESLAIQLLQFNIFI
SLVEPGPVVTEFEGKLLAQVSMAEFPGTDPETLHYFRDLYLPASRKLFCSVGQNPQDVVQ
AIVNVISSTRPPLRRQTNIRYSPLTTLKTVDSSGSLYVRTTHRLLFRCPRLLNLGLQCLS
CGCLPTRVRPR
NT seq
936 nt
NT seq
+upstream
nt +downstream
nt
atggccgctgcaccccggactgtgttgatctccggctgctcatcaggaattggtctggaa
cttgcagtgcaactggcccatgaccccaagaagcgctaccaggtcgtggccaccatgagg
gacctggggaagaaggagacactggaggcagctgctggggaggctctggggcagaccctc
accgtggcccagctggacgtgtgcagtgatgagtcggtggcccagtgtctcagctgtatc
cagggagaagtggacgtgctggtgaataatgctggaatgggcctggtggggcccctggag
gggctcagccttgctgccatgcagaatgtctttgacaccaactttttcggagctgtccgt
ctcgtcaaagctgtgcttccaggcatgaagaggaggcggcagggccacatcgtggtgatc
agcagtgtcatgggcctgcagggtgtcatcttcaacgatgtctatgcagcttccaagttc
gccctggagggattcttcgaaagcctcgctatccagctgctgcagttcaacatcttcatc
tccctggtggagccaggccccgtggtcaccgagtttgaggggaagcttctggcgcaggtt
tctatggctgagttcccaggcactgaccctgagaccctgcactacttccgggacctctat
ctcccagcctccaggaagctgttttgctccgtgggacagaacccacaggacgtggttcag
gccattgtcaacgtcatcagctcgactcgaccacccctgcgccgacagaccaacatccgc
tactcgccgctgaccacgctcaaaaccgtggattcctctggcagcctgtatgtgcgaacg
acccaccgcctcctcttccgctgtccacgcctcctcaaccttggccttcaatgtctgtcc
tgcggctgcctcccaacgcgggtgcggccaagatga
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