• Gene id: 9249

Gene Summary

• Gene Symbol: DHRS3   Gene   UCSC   Ensembl
• Aliases: DD83.1, RDH17, Rsdr1, SDR1, SDR16C1, retSDR1
• Gene name: dehydrogenase/reductase 3
• Alternate names: short-chain dehydrogenase/reductase 3, dehydrogenase/reductase (SDR family) member 3, dehydrogenase/reductase member 3, retinal short-chain dehydrogenase/reductase 1, retinol dehydrogenase 17, short chain dehydrogenase/reductase family 16C member 1, short-chain,
• Gene location: 1p36.21 (12618209: 12567909)     Exons: 9     NC_000001.11
• Gene summary(Entrez): Short-chain dehydrogenases/reductases (SDRs), such as DHRS3, catalyze the oxidation/reduction of a wide range of substrates, including retinoids and steroids (Haeseleer and Palczewski, 2000 [PubMed 10800688]).[supplied by OMIM, Jun 2009]
• OMIM: 612830

Protein Summary

• Protein general information: O75911  
  • Name: Short chain dehydrogenase/reductase 3 (EC 1.1.1.300) (DD83.1) (Retinal short chain dehydrogenase/reductase 1) (retSDR1) (Retinol dehydrogenase 17) (Short chain dehydrogenase/reductase family 16C member 1)
  • Length: 302  
  • Mass: 33548
  • Tissue specificity: Widely expressed with highest levels found in heart, placenta, lung, liver, kidney, pancreas, thyroid, testis, stomach, trachea and spinal cord. Lower levels found in skeletal muscle, intestine and lymph node. No expression detected in
• Sequence:

  MVWKRLGALVMFPLQMIYLVVKAAVGLVLPAKLRDLSRENVLITGGGRGIGRQLAREFAERGARKIVLWGRTEKC
  LKETTEEIRQMGTECHYFICDVGNREEVYQTAKAVREKVGDITILVNNAAVVHGKSLMDSDDDALLKSQHINTLG
  QFWTTKAFLPRMLELQNGHIVCLNSVLALSAIPGAIDYCTSKASAFAFMESLTLGLLDCPGVSATTVLPFHTSTE
  MFQGMRVRFPNLFPPLKPETVARRTVEAVQLNQALLLLPWTMHALVILKSILPQAALEEIHKFSGTYTCMNTFKG
  RT

• Structural information:
  • Interpro: IPR032969  IPR036291  IPR002347  
  • STRING: ENSP00000480439
• Other Databases: GeneCards:  DHRS3  Malacards:  DHRS3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005811	lipid droplet	IBA	cellular component
GO:0004745	retinol dehydrogenase activity	IBA	molecular function
GO:0048385	regulation of retinoic acid receptor signaling pathway	IBA	biological process
GO:0016616	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IBA	molecular function
GO:0001523	retinoid metabolic process	IBA	biological process
GO:0004745	retinol dehydrogenase activity	IEA	molecular function
GO:0042572	retinol metabolic process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0000166	nucleotide binding	TAS	molecular function
GO:0007601	visual perception	TAS	biological process
GO:0052650	NADP-retinol dehydrogenase activity	IEA	molecular function
GO:0001523	retinoid metabolic process	TAS	biological process
GO:0042622	photoreceptor outer segment membrane	TAS	cellular component
GO:0052650	NADP-retinol dehydrogenase activity	TAS	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0060411	cardiac septum morphogenesis	IEA	biological process
GO:0060349	bone morphogenesis	IEA	biological process
GO:0060021	roof of mouth development	IEA	biological process
GO:0003151	outflow tract morphogenesis	IEA	biological process
GO:0001523	retinoid metabolic process	IEA	biological process
GO:0048387	negative regulation of retinoic acid receptor signaling pathway	IEA	biological process
GO:0030278	regulation of ossification	IEA	biological process
GO:0004745	retinol dehydrogenase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0022900	electron transport chain	IEA	biological process
GO:0042572	retinol metabolic process	TAS	biological process
GO:0009055	electron transfer activity	TAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00830	Retinol metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq