UniProtKB - Q92781 (RDH1_HUMAN)
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Protein
11-cis retinol dehydrogenase
Gene
RDH5
Organism
Homo sapiens (Human)
Status
Functioni
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.2 Publications
Catalytic activityi
11-cis-retinol-[retinal-binding-protein] + NAD+ = 11-cis-retinal-[retinol-binding-protein] + NADH.2 Publications
Enzyme regulationi
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.1 Publication
pH dependencei
Optimum pH is 7.5-8.0 for 9-cis retinol dehydrogenase activity.1 Publication
: retinol metabolism Pathwayi
This protein is involved in the pathway retinol metabolism, which is part of Cofactor metabolism.1 PublicationView all proteins of this organism that are known to be involved in the pathway retinol metabolism and in Cofactor metabolism.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 163 | SubstrateBy similarity | 1 | |
Active sitei | 175 | Proton acceptorBy similarity | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 32 – 56 | NADPBy similarityAdd BLAST | 25 |
GO - Molecular functioni
- retinol dehydrogenase activity Source: Reactome
GO - Biological processi
- response to stimulus Source: UniProtKB-KW
- retinoid metabolic process Source: Reactome
- retinol metabolic process Source: UniProtKB-UniPathway
- visual perception Source: ProtInc
Keywordsi
Molecular function | Oxidoreductase |
Biological process | Sensory transduction, Vision |
Ligand | NAD |
Enzyme and pathway databases
BioCyci | MetaCyc:HS06003-MONOMER. |
BRENDAi | 1.1.1.300. 2681. 1.1.1.315. 2681. |
Reactomei | R-HSA-2453864. Retinoid cycle disease events. R-HSA-2453902. The canonical retinoid cycle in rods (twilight vision). R-HSA-5365859. RA biosynthesis pathway. |
UniPathwayi | UPA00912. |
Chemistry databases
SwissLipidsi | SLP:000000797. |
Names & Taxonomyi
Protein namesi | Recommended name: 11-cis retinol dehydrogenase (EC:1.1.1.315)Short name: 11-cis RDH Short name: 11-cis RoDH Alternative name(s): 9-cis retinol dehydrogenase Short name: 9cRDH Retinol dehydrogenase 5 Short chain dehydrogenase/reductase family 9C member 5 |
Gene namesi | Name:RDH5 Synonyms:HSD17B9, RDH1, SDR9C5 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000135437.9. |
HGNCi | HGNC:9940. RDH5. |
MIMi | 601617. gene. |
neXtProti | NX_Q92781. |
Pathology & Biotechi
Involvement in diseasei
Fundus albipunctatus (FALBI)10 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of fleck retina disease characterized by discrete uniform white dots over the entire fundus with greatest density in the mid-periphery and no macular involvement. Night blindness occurs. Inheritance can be autosomal dominant or autosomal recessive.
See also OMIM:136880Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_016814 | 35 | G → S in FALBI; decreased stability. 2 PublicationsCorresponds to variant dbSNP:rs759359491Ensembl. | 1 | |
Natural variantiVAR_009273 | 73 | S → F in FALBI; decreased stability; loss of enzymatic activity; accumulates in the perinuclear region. 2 PublicationsCorresponds to variant dbSNP:rs62638185Ensembl. | 1 | |
Natural variantiVAR_068716 | 105 | L → I in FALBI; decreased stability. 1 PublicationCorresponds to variant dbSNP:rs765993603Ensembl. | 1 | |
Natural variantiVAR_016815 | 107 | G → R in FALBI; associated with macular dystrophy. 2 Publications | 1 | |
Natural variantiVAR_068717 | 128 | D → N in FALBI; decreased stability. 1 PublicationCorresponds to variant dbSNP:rs377029071Ensembl. | 1 | |
Natural variantiVAR_016816 | 132 | V → M in FALBI. 1 PublicationCorresponds to variant dbSNP:rs62638187Ensembl. | 1 | |
Natural variantiVAR_068718 | 157 | R → W in FALBI; decreased stability. 1 PublicationCorresponds to variant dbSNP:rs104894374Ensembl. | 1 | |
Natural variantiVAR_016817 | 164 | V → F in FALBI. 1 Publication | 1 | |
Natural variantiVAR_075309 | 175 | Y → F in FALBI. 1 PublicationCorresponds to variant dbSNP:rs758411232Ensembl. | 1 | |
Natural variantiVAR_016818 | 177 | V → G in FALBI. 1 PublicationCorresponds to variant dbSNP:rs104894373Ensembl. | 1 | |
Natural variantiVAR_009274 | 238 | G → W in FALBI; decreased stability; loss of enzymatic activity; accumulates in the perinuclear region. 3 PublicationsCorresponds to variant dbSNP:rs62638191Ensembl. | 1 | |
Natural variantiVAR_068719 | 264 | V → G in FALBI; decreased stability. 2 Publications | 1 | |
Natural variantiVAR_016819 | 267 | C → W in FALBI. 1 Publication | 1 | |
Natural variantiVAR_016820 | 280 | R → H in FALBI; decreased stability; loss of enzymatic activity. 4 PublicationsCorresponds to variant dbSNP:rs62638193Ensembl. | 1 | |
Natural variantiVAR_016821 | 281 | Y → H in FALBI. 1 PublicationCorresponds to variant dbSNP:rs62638194Ensembl. | 1 | |
Natural variantiVAR_016822 | 294 | A → P in FALBI; no effect on enzymatic activity; accumulates in the perinuclear region. 2 PublicationsCorresponds to variant dbSNP:rs111033593Ensembl. | 1 | |
Natural variantiVAR_016823 | 310 | L → EV in FALBI; loss of enzymatic activity; accumulates in the perinuclear region. 2 Publications | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 5959. |
MalaCardsi | RDH5. |
MIMi | 136880. phenotype. |
OpenTargetsi | ENSG00000135437. |
Orphaneti | 227796. Fundus albipunctatus. 52427. Retinitis punctata albescens. |
PharmGKBi | PA34308. |
Chemistry databases
DrugBanki | DB00157. NADH. DB00162. Vitamin A. |
Polymorphism and mutation databases
BioMutai | RDH5. |
DMDMi | 2492753. |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 23 | Sequence analysisAdd BLAST | 23 | |
ChainiPRO_0000054758 | 24 – 318 | 11-cis retinol dehydrogenaseAdd BLAST | 295 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 160 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
GlycoproteinProteomic databases
PaxDbi | Q92781. |
PeptideAtlasi | Q92781. |
PRIDEi | Q92781. |
PTM databases
iPTMneti | Q92781. |
PhosphoSitePlusi | Q92781. |
Expressioni
Tissue specificityi
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.1 Publication
Gene expression databases
Bgeei | ENSG00000135437. |
CleanExi | HS_RDH5. |
ExpressionAtlasi | Q92781. baseline and differential. |
Genevisiblei | Q92781. HS. |
Organism-specific databases
HPAi | HPA063345. |
Interactioni
Subunit structurei
Homodimer.1 Publication
Protein-protein interaction databases
BioGridi | 111892. 8 interactors. |
IntActi | Q92781. 1 interactor. |
STRINGi | 9606.ENSP00000257895. |
Structurei
3D structure databases
ProteinModelPortali | Q92781. |
SMRi | Q92781. |
ModBasei | Search... |
MobiDBi | Search... |
Family & Domainsi
Sequence similaritiesi
Belongs to the short-chain dehydrogenases/reductases (SDR) family.Curated
Keywords - Domaini
SignalPhylogenomic databases
eggNOGi | KOG1610. Eukaryota. ENOG410Y7FK. LUCA. |
GeneTreei | ENSGT00910000144025. |
HOVERGENi | HBG005482. |
InParanoidi | Q92781. |
KOi | K00061. |
OMAi | IIGPTPW. |
OrthoDBi | EOG091G0LMI. |
PhylomeDBi | Q92781. |
TreeFami | TF325617. |
Family and domain databases
InterProi | View protein in InterPro IPR036291. NAD(P)-bd_dom_sf. IPR002347. SDR_fam. |
Pfami | View protein in Pfam PF00106. adh_short. 1 hit. |
PRINTSi | PR00081. GDHRDH. PR00080. SDRFAMILY. |
SUPFAMi | SSF51735. SSF51735. 1 hit. |
i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
Q92781-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MWLPLLLGAL LWAVLWLLRD RQSLPASNAF VFITGCDSGF GRLLALQLDQ
60 70 80 90 100
RGFRVLASCL TPSGAEDLQR VASSRLHTTL LDITDPQSVQ QAAKWVEMHV
110 120 130 140 150
KEAGLFGLVN NAGVAGIIGP TPWLTRDDFQ RVLNVNTMGP IGVTLALLPL
160 170 180 190 200
LQQARGRVIN ITSVLGRLAA NGGGYCVSKF GLEAFSDSLR RDVAHFGIRV
210 220 230 240 250
SIVEPGFFRT PVTNLESLEK TLQACWARLP PATQAHYGGA FLTKYLKMQQ
260 270 280 290 300
RIMNLICDPD LTKVSRCLEH ALTARHPRTR YSPGWDAKLL WLPASYLPAS
310
LVDAVLTWVL PKPAQAVY
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 30 | F → L in AAH28298 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 51 – 52 | RG → KS in AAB93668 (PubMed:9115228).Curated | 2 | |
Sequence conflicti | 75 – 77 | RLH → GFN in AAB93668 (PubMed:9115228).Curated | 3 | |
Sequence conflicti | 89 | V → F in AAB93668 (PubMed:9115228).Curated | 1 | |
Sequence conflicti | 200 | V → E in AAB93668 (PubMed:9115228).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_052321 | 21 | R → Q. Corresponds to variant dbSNP:rs3138143Ensembl. | 1 | |
Natural variantiVAR_009272 | 33 | I → V1 PublicationCorresponds to variant dbSNP:rs62638195Ensembl. | 1 | |
Natural variantiVAR_016814 | 35 | G → S in FALBI; decreased stability. 2 PublicationsCorresponds to variant dbSNP:rs759359491Ensembl. | 1 | |
Natural variantiVAR_052322 | 70 | R → G1 PublicationCorresponds to variant dbSNP:rs1058635Ensembl. | 1 | |
Natural variantiVAR_009273 | 73 | S → F in FALBI; decreased stability; loss of enzymatic activity; accumulates in the perinuclear region. 2 PublicationsCorresponds to variant dbSNP:rs62638185Ensembl. | 1 | |
Natural variantiVAR_068716 | 105 | L → I in FALBI; decreased stability. 1 PublicationCorresponds to variant dbSNP:rs765993603Ensembl. | 1 | |
Natural variantiVAR_016815 | 107 | G → R in FALBI; associated with macular dystrophy. 2 Publications | 1 | |
Natural variantiVAR_068717 | 128 | D → N in FALBI; decreased stability. 1 PublicationCorresponds to variant dbSNP:rs377029071Ensembl. | 1 | |
Natural variantiVAR_016816 | 132 | V → M in FALBI. 1 PublicationCorresponds to variant dbSNP:rs62638187Ensembl. | 1 | |
Natural variantiVAR_068718 | 157 | R → W in FALBI; decreased stability. 1 PublicationCorresponds to variant dbSNP:rs104894374Ensembl. | 1 | |
Natural variantiVAR_016817 | 164 | V → F in FALBI. 1 Publication | 1 | |
Natural variantiVAR_075309 | 175 | Y → F in FALBI. 1 PublicationCorresponds to variant dbSNP:rs758411232Ensembl. | 1 | |
Natural variantiVAR_016818 | 177 | V → G in FALBI. 1 PublicationCorresponds to variant dbSNP:rs104894373Ensembl. | 1 | |
Natural variantiVAR_009274 | 238 | G → W in FALBI; decreased stability; loss of enzymatic activity; accumulates in the perinuclear region. 3 PublicationsCorresponds to variant dbSNP:rs62638191Ensembl. | 1 | |
Natural variantiVAR_068719 | 264 | V → G in FALBI; decreased stability. 2 Publications | 1 | |
Natural variantiVAR_016819 | 267 | C → W in FALBI. 1 Publication | 1 | |
Natural variantiVAR_016820 | 280 | R → H in FALBI; decreased stability; loss of enzymatic activity. 4 PublicationsCorresponds to variant dbSNP:rs62638193Ensembl. | 1 | |
Natural variantiVAR_016821 | 281 | Y → H in FALBI. 1 PublicationCorresponds to variant dbSNP:rs62638194Ensembl. | 1 | |
Natural variantiVAR_016822 | 294 | A → P in FALBI; no effect on enzymatic activity; accumulates in the perinuclear region. 2 PublicationsCorresponds to variant dbSNP:rs111033593Ensembl. | 1 | |
Natural variantiVAR_016823 | 310 | L → EV in FALBI; loss of enzymatic activity; accumulates in the perinuclear region. 2 Publications | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U43559 mRNA. Translation: AAC50725.1. U89717 mRNA. Translation: AAB93668.1. AF037062 Genomic DNA. Translation: AAC09250.1. BC028298 mRNA. Translation: AAH28298.1. |
CCDSi | CCDS31829.1. |
RefSeqi | NP_001186700.1. NM_001199771.1. NP_002896.2. NM_002905.3. |
UniGenei | Hs.600940. |
Genome annotation databases
Ensembli | ENST00000257895; ENSP00000257895; ENSG00000135437. ENST00000548082; ENSP00000447128; ENSG00000135437. |
GeneIDi | 5959. |
KEGGi | hsa:5959. |
UCSCi | uc001shk.4. human. |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Entry informationi
Entry namei | RDH1_HUMAN | |
Accessioni | Q92781Primary (citable) accession number: Q92781 Secondary accession number(s): O00179, Q8TAI2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1997 |
Last sequence update: | February 1, 1997 | |
Last modified: | February 28, 2018 | |
This is version 165 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |