Gene/Proteome Database (LMPD)

LMPD ID
LMP002197
Gene ID
5959
Species
Homo sapiens (Human)
Gene Name
retinol dehydrogenase 5 (11-cis/9-cis)
Gene Symbol
RDH5
Synonyms
9cRDH; HSD17B9; RDH1; SDR9C5
Alternate Names
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
Chromosome
12
Map Location
12q13-q14
EC Number
1.1.1.315
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]
Orthologs
View 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
MWLPLLLGALLWAVLWLLRDRQSLPASNAFVFITGCDSGFGRLLALQLDQRGFRVLASCLTPSGAEDLQRVASSRLHTTLLDITDPQSVQQAAKWVEMHVKEAGLFGLVNNAGVAGIIGPTPWLTRDDFQRVLNVNTMGPIGVTLALLPLLQQARGRVINITSVLGRLAANGGGYCVSKFGLEAFSDSLRRDVAHFGIRVSIVEPGFFRTPVTNLESLEKTLQACWARLPPATQAHYGGAFLTKYLKMQQRIMNLICDPDLTKVSRCLEHALTARHPRTRYSPGWDAKLLWLPASYLPASLVDAVLTWVLPKPAQAVY
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

Gene Information

Entrez Gene ID
5959
Gene Name
retinol dehydrogenase 5 (11-cis/9-cis)
Gene Symbol
RDH5
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0044297 IEA:Ensembl C cell body
GO:0005788 IEA:Ensembl C endoplasmic reticulum lumen
GO:0005789 TAS:Reactome C endoplasmic reticulum membrane
GO:0004745 TAS:ProtInc F retinol dehydrogenase activity
GO:0007603 TAS:Reactome P phototransduction, visible light
GO:0001523 TAS:Reactome P retinoid metabolic process
GO:0042572 IEA:UniProtKB-UniPathway P retinol metabolic process
GO:0007601 TAS:ProtInc P visual perception

KEGG Pathway Links

KEGG Pathway ID Description
hsa00830 Retinol metabolism

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_160156 The canonical retinoid cycle in rods (twilight vision)

Domain Information

InterPro Annotations

Accession Description
IPR002347 Glucose/ribitol dehydrogenase
IPR016040 NAD(P)-binding domain
IPR002198 Short-chain dehydrogenase/reductase SDR

UniProt Annotations

Entry Information

Gene Name
retinol dehydrogenase 5 (11-cis/9-cis)
Protein Entry
RDH1_HUMAN
UniProt ID
Q92781
Species
Human

Comments

Comment Type Description
Biophysicochemical Properties pH dependence: Optimum pH is 7.5-8.0 for 9-cis retinol dehydrogenase activity. ;
Catalytic Activity 11-cis-retinol-[retinal-binding-protein] + NAD(+) = 11-cis-retinal-[retinol-binding-protein] + NADH.
Disease Retinitis punctata albescens (RPA) [MIM
Enzyme Regulation Inhibited by 9-cis-, 13-cis- and all-trans- retinoic acids, with the most potent inhibitor being 13-cis- retinoic acid. Weakly inhibited by oleic acid.
Function 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. {ECO
Pathway Cofactor metabolism; retinol metabolism.
Similarity Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Subcellular Location Membrane ; Peripheral membrane protein . Endoplasmic reticulum lumen .
Subunit Homodimer.
Tissue Specificity Abundant in the retinal pigment epithelium. Expressed at high levels in mammary tissue, kidney and testis, and at lower levels in liver, heart, adrenal gland, lung, pancreas and skeletal muscle.
Web Resource Name=Mutations of the RDH5 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/rdh5mut.htm";

Identical and Related Proteins

Unique RefSeq proteins for LMP002197 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
315113906 RefSeq NP_001186700 318 11-cis retinol dehydrogenase precursor

Identical Sequences to LMP002197 proteins

Reference Database Accession Length Protein Name
GI:315113906 GenBank AAM57420.1 318 Sequence 1 from patent US 6372463
GI:315113906 GenBank AAM60351.1 318 Sequence 15 from patent US 6399344
GI:315113906 GenBank AAV21108.1 318 Sequence 1368 from patent US 6753314
GI:315113906 GenBank EAW96825.1 318 retinol dehydrogenase 5 (11-cis and 9-cis), isoform CRA_a [Homo sapiens]
GI:315113906 GenBank EAW96826.1 318 retinol dehydrogenase 5 (11-cis and 9-cis), isoform CRA_a [Homo sapiens]
GI:315113906 RefSeq NP_002896.2 318 11-cis retinol dehydrogenase precursor [Homo sapiens]

Related Sequences to LMP002197 proteins

Reference Database Accession Length Protein Name
GI:315113906 GenBank AAH28298.1 318 Retinol dehydrogenase 5 (11-cis/9-cis) [Homo sapiens]
GI:315113906 GenBank ADQ31868.1 318 retinol dehydrogenase 5 (11-cis/9-cis), partial [synthetic construct]
GI:315113906 GenBank JAA02066.1 318 retinol dehydrogenase 5 (11-cis/9-cis) [Pan troglodytes]
GI:315113906 GenBank JAA12533.1 318 retinol dehydrogenase 5 (11-cis/9-cis) [Pan troglodytes]
GI:315113906 GenBank JAA23524.1 318 retinol dehydrogenase 5 (11-cis/9-cis) [Pan troglodytes]
GI:315113906 GenBank AIC55028.1 318 RDH5, partial [synthetic construct]