• Gene id: 112724

Gene Summary

• Gene Symbol: RDH13   Gene   UCSC   Ensembl
• Aliases: SDR7C3
• Gene name: retinol dehydrogenase 13
• Alternate names: retinol dehydrogenase 13, retinol dehydrogenase 13 (all-trans and 9-cis), retinol dehydrogenase 13 (all-trans/9-cis), short chain dehydrogenase/reductase family 7C member 3,
• Gene location: 19q13.42 (55069530: 55040374)     Exons: 12     NC_000019.10
• Gene summary(Entrez): This gene encodes a mitochondrial short-chain dehydrogenase/reductase, which catalyzes the reduction and oxidation of retinoids. The encoded enzyme may function in retinoic acid production and may also protect the mitochondria against oxidative stress. Al
• OMIM: 0

Protein Summary

• Protein general information: Q8NBN7  
  • Name: Retinol dehydrogenase 13 (EC 1.1.1.300) (Short chain dehydrogenase/reductase family 7C member 3)
  • Length: 331  
  • Mass: 35932
  • Tissue specificity: Widely expressed (PubMed
• Sequence:

  MSRYLLPLSALGTVAGAAVLLKDYVTGGACPSKATIPGKTVIVTGANTGIGKQTALELARRGGNIILACRDMEKC
  EAAAKDIRGETLNHHVNARHLDLASLKSIREFAAKIIEEEERVDILINNAGVMRCPHWTTEDGFEMQFGVNHLGH
  FLLTNLLLDKLKASAPSRIINLSSLAHVAGHIDFDDLNWQTRKYNTKAAYCQSKLAIVLFTKELSRRLQGSGVTV
  NALHPGVARTELGRHTGIHGSTFSSTTLGPIFWLLVKSPELAAQPSTYLAVAEELADVSGKYFDGLKQKAPAPEA
  EDEEVARRLWAESARLVGLEAPSVREQPLPR

• Structural information:
  • Interpro: IPR036291  IPR020904  IPR002347  
  • Prosite: PS00061
  • STRING: ENSP00000391121
• Other Databases: GeneCards:  RDH13  Malacards:  RDH13

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005743	mitochondrial inner membrane	IBA	cellular component
GO:0042574	retinal metabolic process	IBA	biological process
GO:0052650	NADP-retinol dehydrogenase activity	IBA	molecular function
GO:0042574	retinal metabolic process	IDA	biological process
GO:0052650	NADP-retinol dehydrogenase activity	IDA	molecular function
GO:0005743	mitochondrial inner membrane	IDA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0052650	NADP-retinol dehydrogenase activity	IEA	molecular function
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0052650	NADP-retinol dehydrogenase activity	TAS	molecular function
GO:0010842	retina layer formation	IEA	biological process
GO:0009644	response to high light intensity	IEA	biological process
GO:0042462	eye photoreceptor cell development	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0042572	retinol metabolic process	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq