Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5959
Gene name	Retinol dehydrogenase 5
Gene symbol	RDH5
Synonyms (NCBI Gene)	9cRDHHSD17B9RDH1SDR9C5
Chromosome	12
Chromosome location	12q13.2
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 pigm

Show/Hide all (13)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018312	hsa-miR-335-5p	Microarray	18185580
MIRT1299116	hsa-miR-2355-3p	CLIP-seq
MIRT1299117	hsa-miR-3973	CLIP-seq
MIRT1299118	hsa-miR-520g	CLIP-seq
MIRT1299119	hsa-miR-520h	CLIP-seq
MIRT1299120	hsa-miR-676	CLIP-seq
MIRT2313890	hsa-miR-2682	CLIP-seq
MIRT2313891	hsa-miR-449c	CLIP-seq
MIRT2313892	hsa-miR-4514	CLIP-seq
MIRT2313893	hsa-miR-4645-5p	CLIP-seq
MIRT2313894	hsa-miR-4673	CLIP-seq
MIRT2313895	hsa-miR-4692	CLIP-seq
MIRT2313896	hsa-miR-4733-3p	CLIP-seq

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001523	Process	Retinoid metabolic process	IBA
GO:0001523	Process	Retinoid metabolic process	IDA	9931293
GO:0001523	Process	Retinoid metabolic process	IEA
GO:0001523	Process	Retinoid metabolic process	TAS
GO:0004745	Function	All-trans-retinol dehydrogenase (NAD+) activity	IBA
GO:0004745	Function	All-trans-retinol dehydrogenase (NAD+) activity	IDA	11675386
GO:0004745	Function	All-trans-retinol dehydrogenase (NAD+) activity	IEA
GO:0004745	Function	All-trans-retinol dehydrogenase (NAD+) activity	TAS	9115228
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IDA	11675386
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	11675386
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	10369264
GO:0008202	Process	Steroid metabolic process	IBA
GO:0008202	Process	Steroid metabolic process	IDA	9931293
GO:0008202	Process	Steroid metabolic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016616	Function	Oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA
GO:0042572	Process	Retinol metabolic process	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	11675386
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0044297	Component	Cell body	IEA
GO:0047023	Function	Androsterone dehydrogenase [NAD(P)+] activity	IDA	9931293
GO:0047023	Function	Androsterone dehydrogenase [NAD(P)+] activity	IEA
GO:0047044	Function	Androstan-3-alpha,17-beta-diol dehydrogenase (NAD+) activity	IDA	9931293
GO:0047044	Function	Androstan-3-alpha,17-beta-diol dehydrogenase (NAD+) activity	IEA
GO:0106429	Function	11-cis-retinol dehydrogenase (NAD+) activity	IEA

MIM	HGNC	e!Ensembl
601617	9940	ENSG00000135437

Q92781

Protein name

Retinol dehydrogenase 5 (EC 1.1.1.209) (EC 1.1.1.315) (EC 1.1.1.53) (11-cis retinol dehydrogenase) (11-cis RDH) (11-cis RoDH) (9-cis retinol dehydrogenase) (9cRDH) (Short chain dehydrogenase/reductase family 9C member 5)

Protein function

Catalyzes the oxidation of cis-isomers of retinol, including 11-cis-, 9-cis-, and 13-cis-retinol in an NAD-dependent manner (PubMed:10588954, PubMed:11675386, PubMed:9115228, PubMed:9931293). Has no activity towards all-trans retinal (By similar

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00106	adh_short	29 → 221	short chain dehydrogenase	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. In the eye, abundant in the retinal pigment epithelium. {ECO:0000269|PubMed:9115228, ECO:0000269|PubMed:9931293}.

Sequence

MWLPLLLGALLWAVLWLLRDRQSLPASNAFVFITGCDSGFGRLLALQLDQRGFRVLASCL
TPSGAEDLQRVASSRLHTTLLDITDPQSVQQAAKWVEMHVKEAGLFGLVNNAGVAGIIGP
TPWLTRDDFQRVLNVNTMGPIGVTLALLPLLQQARGRVINITSVLGRLAANGGGYCVSKF
GLEAFSDSLRRDVAHFGIRVSIVEPGFFRTPVTNLESLEKTLQACWARLPPATQAHYGGA
FLTKYLKMQQRIMNLICDPDLTKVSRCLEHALTARHPRTRYSPGWDAKLLWLPASYLPAS
LVDAVLTWVLPKPAQAVY

Sequence length

318

Interactions

View interactions

	KEGG		Reactome
	Retinol metabolism Metabolic pathways		Retinoid cycle disease events The canonical retinoid cycle in rods (twilight vision) RA biosynthesis pathway

105

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital stationary night blindness	Likely pathogenic; Pathogenic	rs62638191, rs62638193	RCV003324486 RCV003324487
Fundus albipunctatus, autosomal recessive	Likely pathogenic; Pathogenic	rs774122562, rs62638191, rs62638193, rs111033593, rs62638194, rs267607006, rs104894374	RCV000844920 RCV000008467 RCV000008469 RCV000008470 RCV000008472 RCV000008473 RCV000008474
Pigmentary retinal dystrophy	Pathogenic; Likely pathogenic	rs2136142116, rs769619405, rs774122562, rs62638191, rs62638193, rs111033593, rs267607006, rs104894374, rs781112960, rs769035379, rs199877211, rs1565653781, rs377029071, rs776634113, rs1592521438 View all (5 more)	RCV001784905 RCV005238169 RCV000190620 RCV000988861 RCV000779108 RCV001003165 RCV005411282 RCV002247275 RCV005008178 RCV001003160 RCV004701403 RCV000761555 RCV000786016 RCV001003159 RCV001003161 RCV001003162 RCV005012540 RCV001196268 RCV004699201 RCV005012660
RDH5-related disorder	Likely pathogenic; Pathogenic	rs62638191	RCV003390658
Retinal dystrophy	Pathogenic; Likely pathogenic	rs763855790, rs62638191, rs781112960, rs375135224	RCV004816820 RCV004814863 RCV000225623 RCV001074690
Retinitis punctata albescens	Likely pathogenic; Pathogenic	rs62638191, rs753378940	RCV005357098 RCV001003164
See cases	Likely pathogenic; Pathogenic	rs62638191	RCV002251890

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Optic atrophy	Conflicting classifications of pathogenicity	rs1058635	RCV004818023
Retinitis pigmentosa	Conflicting classifications of pathogenicity	rs1058635	RCV000787875

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	30535121
Astigmatism	Associate	30747064
Carcinogenesis	Associate	24376576
Carcinoma Hepatocellular	Associate	32788868
Colonic Neoplasms	Inhibit	15190067
Colorectal Neoplasms	Inhibit	24599561
Cone Rod Dystrophies	Associate	29555955
Diabetes Mellitus Type 2	Associate	30535121
Fleck Retina Familial Benign	Associate	16637847
Fundus Albipunctatus	Associate	10617778, 11153648, 16637847, 22736946, 22815624, 32232344, 34115091, 35148716
Genetic Diseases Inborn	Associate	35148716
Hereditary Breast and Ovarian Cancer Syndrome	Associate	30535121
Macular Degeneration	Associate	30747064, 31123710
Myopia	Associate	23468642, 30535121
Myopia	Inhibit	31123710
Myopia Degenerative	Associate	30747064
Neoplasm Metastasis	Inhibit	32788868
Neoplasms	Associate	30535121
Neurodegenerative Diseases	Associate	30535121
Night Blindness	Associate	10617778
Night blindness congenital stationary	Associate	10617778, 34781300
Parkinson Disease	Associate	30535121
Retinal Cone Dystrophy 1	Associate	32232344
Schizophrenia	Associate	30535121
Stomach Neoplasms	Associate	24376576
Thyroid Cancer Papillary	Associate	28469731
Triple Negative Breast Neoplasms	Associate	32471192

RDH5 (retinol dehydrogenase 5)