catalog number :
MBS1350349
products type :
Recombinant Protein
products full name :
Recombinant Human 11-cis retinol dehydrogenase (RDH5)
products short name :
11-cis retinol dehydrogenase (RDH5)
products name syn :
11-cis retinol dehydrogenase; 11-cis RDH; EC=1.1.1.315
other names :
11-cis retinol dehydrogenase; 11-cis retinol dehydrogenase; 11-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; retinol dehydrogenase 5 (11-cis/9-cis); 9-cis retinol dehydrogenase; 9cRDH
products gene name :
RDH5
products gene name syn :
RDH5; RDH1
other gene names :
RDH5; RDH5; RDH1; 9cRDH; SDR9C5; HSD17B9; RDH1; 11-cis RDH; 11-cis RoDH; 9cRDH
uniprot entry name :
RDH1_HUMAN
host :
E Coli or Yeast or Baculovirus or Mammalian Cell
sequence positions :
24-318
sequence :
LPASNAF VFITGCDSGF GRLLALQLDQ RGFRVLASCL TPSGAEDLQR VASSRLHTTL LDITDPQSVQ QAAKWVEMHV KEAGLFGLVN NAGVAGIIGP TPWLTRDDFQ RVLNVNTMGP IGVTLALLPL LQQARGRVIN ITSVLGRLAA NGGGYCVSKF GLEAFSDSLR RDVAHFGIRV SIVEPGFFRT PVTNLESLEK TLQACWARLP PATQAHYGGA FLTKYLKMQQ RIMNLICDPD LTKVSRCLEH ALTARHPRTR YSPGWDAKLL WLPASYLPAS LVDAVLTWVL PKPAQAVY
form :
Liquid containing glycerol; lyophilization may be available upon request.
storage stability :
Store at -20 degrees C. For long-term storage, store at -20 degrees C or -80 degrees C. Store working aliquots at 4 degrees C for up to one week. Repeated freezing and thawing is not recommended.
other info1 :
Species: Homo sapiens (Human)
ncbi acc num :
NP_001186700.1
ncbi gb acc num :
NM_001199771.1
ncbi mol weight :
34,979 Da
ncbi pathways :
Disease Pathway (530764); Diseases Associated With Visual Transduction Pathway (771581); Retinol Metabolism Pathway (83020); Retinol Metabolism Pathway (406); Signal Transduction Pathway (477114); The Canonical Retinoid Cycle In Rods (twilight Vision) Pathway (771585); Visual Phototransduction Pathway (771584); Visual Signal Transduction: Cones Pathway (137926); Visual Signal Transduction: Rods Pathway (138074); Vitamin A And Carotenoid Metabolism Pathway (198785)
ncbi summary :
This 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]
uniprot summary :
RDH5: Stereospecific 11-cis retinol dehydrogenase, which catalyzes the final step in the biosynthesis of 11-cis retinaldehyde, the universal chromophore of visual pigments. Also able to oxidize 9-cis-retinol and 13-cis-retinol, but not all- trans-retinol. Active in the presence of NAD as cofactor but not in the presence of NADP. Defects in RDH5 are a cause of retinitis punctata albescens (RPA); also known as fundus albipunctatus (FA). RPA is a rare form of stationary night blindness characterized by a delay in the regeneration of cone and rod photopigments. Belongs to the short-chain dehydrogenases/reductases (SDR) family. Protein type: Cofactor and Vitamin Metabolism - retinol; Endoplasmic reticulum; Oxidoreductase; EC 1.1.1.315. Chromosomal Location of Human Ortholog: 12q13-q14. Cellular Component: endoplasmic reticulum membrane; endoplasmic reticulum lumen. Molecular Function: retinol dehydrogenase activity. Biological Process: phototransduction, visible light; visual perception; retinol metabolic process; retinoid metabolic process. Disease: Fundus Albipunctatus
size2 :
0.05 mg (Baculovirus)
size4 :
0.05 mg (Mammalian-Cell)