• Gene id: 5959

Gene Summary

• Gene Symbol: RDH5   Gene   UCSC   Ensembl
• Aliases: 9cRDH, HSD17B9, RDH1, SDR9C5
• Gene name: retinol dehydrogenase 5
• Alternate names: retinol dehydrogenase 5, 11-cis RDH, 11-cis RoDH, 9-cis retinol dehydrogenase, 9-cis-retinol specific dehydrogenase, retinol dehydrogenase 1, retinol dehydrogenase 5 (11-cis and 9-cis), retinol dehydrogenase 5 (11-cis/9-cis), short chain dehydrogenase/reductase f,
• Gene location: 12q13.2 (55720392: 55724741)     Exons: 5     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 113710

Protein Summary

• Protein general information: Q92781  
  • 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)
  • Length: 318  
  • Mass: 34979
  • Tissue specificity: Widely expressed. In the eye, abundant in the retinal pigment epithelium. {ECO
• Sequence:

  MWLPLLLGALLWAVLWLLRDRQSLPASNAFVFITGCDSGFGRLLALQLDQRGFRVLASCLTPSGAEDLQRVASSR
  LHTTLLDITDPQSVQQAAKWVEMHVKEAGLFGLVNNAGVAGIIGPTPWLTRDDFQRVLNVNTMGPIGVTLALLPL
  LQQARGRVINITSVLGRLAANGGGYCVSKFGLEAFSDSLRRDVAHFGIRVSIVEPGFFRTPVTNLESLEKTLQAC
  WARLPPATQAHYGGAFLTKYLKMQQRIMNLICDPDLTKVSRCLEHALTARHPRTRYSPGWDAKLLWLPASYLPAS
  LVDAVLTWVLPKPAQAVY

• Structural information:
  • Interpro: IPR036291  IPR002347  
  • STRING: ENSP00000257895
• Other Databases: GeneCards:  RDH5  Malacards:  RDH5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0004745	retinol dehydrogenase activity	IDA	molecular function
GO:0005788	endoplasmic reticulum lumen	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0047044	androstan-3-alpha,17-beta-diol dehydrogenase activity	IDA	molecular function
GO:0001523	retinoid metabolic process	IDA	biological process
GO:0008202	steroid metabolic process	IDA	biological process
GO:0047023	androsterone dehydrogenase activity	IDA	molecular function
GO:0007601	visual perception	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0050896	response to stimulus	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0008202	steroid metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0004745	retinol dehydrogenase activity	TAS	molecular function
GO:0007601	visual perception	TAS	biological process
GO:0047044	androstan-3-alpha,17-beta-diol dehydrogenase activity	IEA	molecular function
GO:0047023	androsterone dehydrogenase activity	IEA	molecular function
GO:0001523	retinoid metabolic process	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	IEA	cellular component
GO:0004745	retinol dehydrogenase activity	IEA	molecular function
GO:0044297	cell body	IEA	cellular component
GO:0001523	retinoid metabolic process	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0042572	retinol metabolic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa00830	Retinol metabolism

Diseases

Associated diseases	References
Familial flecked retina syndrome	KEGG:H00825
Familial flecked retina syndrome	KEGG:H00825
Night blindness	PMID:10617778
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881