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LMP002197

Record overview

LMPD IDLMP002197
Gene ID5959
SpeciesHomo sapiens (Human)
Gene Nameretinol dehydrogenase 5 (11-cis/9-cis)
Gene SymbolRDH5
Synonyms9cRDH; HSD17B9; RDH1; SDR9C5
Alternate names11-cis retinol dehydrogenase; 11-cis RDH; 11-cis RoDH; retinol dehydrogenase 1; 9-cis retinol dehydrogenase; 9-cis-retinol specific dehydrogenase; retinol dehydrogenase 5 (11-cis and 9-cis); short chain dehydrogenase/reductase family 9C, member 5
Chromosome12
Map Location12q13-q14
EC Number1.1.1.315
SummaryThis gene encodes an enzyme belonging to the short-chain dehydrogenases/reductases (SDR) family. This retinol dehydrogenase functions to catalyze the final step in the biosynthesis of 11-cis retinaldehyde, which is the universal chromophore of visual pigments. Mutations in this gene cause autosomal recessive fundus albipunctatus, a rare form of night blindness that is characterized by a delay in the regeneration of cone and rod photopigments. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring upstream BLOC1S1 (biogenesis of lysosomal organelles complex-1, subunit 1) gene. [provided by RefSeq, Dec 2010]
OrthologsView orthologs and multiple alignments for RDH5

Proteins

11-cis retinol dehydrogenase precursor
Refseq ID:NP_001186700
Protein GI:315113906
UniProt ID:Q92781
mRNA ID:NM_001199771
Length:318
RefSeq Status:REVIEWED
MWLPLLLGALLWAVLWLLRDRQSLPASNAFVFITGCDSGFGRLLALQLDQRGFRVLASCLTPSGAEDLQRVASSRLHTTLLDITDPQSVQQAAKWVEMHV
KEAGLFGLVNNAGVAGIIGPTPWLTRDDFQRVLNVNTMGPIGVTLALLPLLQQARGRVINITSVLGRLAANGGGYCVSKFGLEAFSDSLRRDVAHFGIRV
SIVEPGFFRTPVTNLESLEKTLQACWARLPPATQAHYGGAFLTKYLKMQQRIMNLICDPDLTKVSRCLEHALTARHPRTRYSPGWDAKLLWLPASYLPAS
LVDAVLTWVLPKPAQAVY
 
11-cis retinol dehydrogenase precursor
Refseq ID:NP_002896
Protein GI:50726952
UniProt ID:Q92781
mRNA ID:NM_002905
Length:318
RefSeq Status:REVIEWED
Protein sequence is identical to GI:315113906 (mRNA isoform)
 
sig_peptide: 1..25
inference: COORDINATES: ab initio prediction:SignalP:4.0
calculated_mol_wt: 2975
peptide sequence: 
MWLPLLLGALLWAVLWLLRDRQSLP

sig_peptide: 1..25
inference: COORDINATES: ab initio prediction:SignalP:4.0
calculated_mol_wt: 2975
peptide sequence: 
MWLPLLLGALLWAVLWLLRDRQSLP