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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5959
Gene name Gene Name - the full gene name approved by the HGNC.	Retinol dehydrogenase 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	RDH5
Synonyms (NCBI Gene) Gene synonyms aliases	9cRDH, HSD17B9, RDH1, SDR9C5
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12q13.2
Summary Summary of gene provided in NCBI Entrez Gene.	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

Protein

UniProt ID

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

Show/Hide Causal Diseases (5)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Fundus Albipunctatus	Fundus albipunctatus, autosomal recessive	rs104894373, rs62638191, rs62638194, rs267607006, rs104894374, rs62638193, rs774122562, rs111033593	N/A
Retinal Dystrophy	Pigmentary retinal dystrophy	rs1565653781, rs377029071, rs62638191, rs776634113, rs1592521438, rs104894374, rs1592521712, rs774122562, rs62638193, rs375135224, rs781112960, rs769035379, rs111033593, rs199877211	N/A
retinal dystrophy	Retinal dystrophy	rs62638191, rs375135224, rs781112960	N/A
Congenital stationary night blindness	congenital stationary night blindness	rs62638191, rs62638193	N/A
Retinitis Punctata Albescens	retinitis punctata albescens	rs62638191, rs753378940	N/A

Show/Hide Unknown Diseases (6)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Atrial Fibrillation	Atrial fibrillation	N/A	N/A	GWAS
Hyperopia	Hyperopia	N/A	N/A	GWAS
Myopia	Myopia	N/A	N/A	GWAS
Optic Atrophy	optic atrophy	N/A	N/A	ClinVar
Retinal Detachment	Retinal detachment	N/A	N/A	GWAS
Retinitis Pigmentosa	retinitis pigmentosa	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)