• Gene id: 1717

Gene Summary

• Gene Symbol: DHCR7   Gene   UCSC   Ensembl
• Aliases: SLOS
• Gene name: 7-dehydrocholesterol reductase
• Alternate names: 7-dehydrocholesterol reductase, 7-DHC reductase, delta-7-dehydrocholesterol reductase, delta7-sterol reductase, putative sterol reductase SR-2, sterol delta-7-reductase, sterol reductase SR-2,
• Gene location: 11q13.4 (71448392: 71434410)     Exons: 9     NC_000011.10
• Gene summary(Entrez): This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic re
• OMIM: 603768

Protein Summary

• Protein general information: Q9UBM7  
  • Name: 7 dehydrocholesterol reductase (7 DHC reductase) (EC 1.3.1.21) (Delta7 sterol reductase) (Sterol Delta(7) reductase) (Sterol reductase SR 2)
  • Length: 475  
  • Mass: 54489
  • Tissue specificity: Widely expressed. Most abundant in adrenal gland, liver, testis, and brain. {ECO
• Sequence:

  MAAKSQPNIPKAKSLDGVTNDRTASQGQWGRAWEVDWFSLASVIFLLLFAPFIVYYFIMACDQYSCALTGPVVDI
  VTGHARLSDIWAKTPPITRKAAQLYTLWVTFQVLLYTSLPDFCHKFLPGYVGGIQEGAVTPAGVVNKYQINGLQA
  WLLTHLLWFANAHLLSWFSPTIIFDNWIPLLWCANILGYAVSTFAMVKGYFFPTSARDCKFTGNFFYNYMMGIEF
  NPRIGKWFDFKLFFNGRPGIVAWTLINLSFAAKQRELHSHVTNAMVLVNVLQAIYVIDFFWNETWYLKTIDICHD
  HFGWYLGWGDCVWLPYLYTLQGLYLVYHPVQLSTPHAVGVLLLGLVGYYIFRVANHQKDLFRRTDGRCLIWGRKP
  KVIECSYTSADGQRHHSKLLVSGFWGVARHFNYVGDLMGSLAYCLACGGGHLLPYFYIIYMAILLTHRCLRDEHR
  CASKYGRDWERYTAAVPYRLLPGIF

• Structural information:
  • Interpro: IPR001171  IPR018083  
  • Prosite: PS01017 PS01018
  • STRING: ENSP00000347717
• Other Databases: GeneCards:  DHCR7  Malacards:  DHCR7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016126	sterol biosynthetic process	IBA	biological process
GO:0016627	oxidoreductase activity, acting on the CH-CH group of donors	IBA	molecular function
GO:0047598	7-dehydrocholesterol reductase activity	IBA	molecular function
GO:0006695	cholesterol biosynthetic process	IBA	biological process
GO:0009918	sterol delta7 reductase activity	IBA	molecular function
GO:0016132	brassinosteroid biosynthetic process	IBA	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0016628	oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016126	sterol biosynthetic process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0006695	cholesterol biosynthetic process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016126	sterol biosynthetic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0008202	steroid metabolic process	IEA	biological process
GO:0047598	7-dehydrocholesterol reductase activity	IEA	molecular function
GO:0047598	7-dehydrocholesterol reductase activity	EXP	molecular function
GO:0033489	cholesterol biosynthetic process via desmosterol	TAS	biological process
GO:0033490	cholesterol biosynthetic process via lathosterol	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0045540	regulation of cholesterol biosynthetic process	TAS	biological process
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0009791	post-embryonic development	IEA	biological process
GO:0045540	regulation of cholesterol biosynthetic process	IEA	biological process
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0006695	cholesterol biosynthetic process	IEA	biological process
GO:0047598	7-dehydrocholesterol reductase activity	IEA	molecular function
GO:0035264	multicellular organism growth	IEA	biological process
GO:0030324	lung development	IEA	biological process
GO:0016126	sterol biosynthetic process	IEA	biological process
GO:0001568	blood vessel development	IEA	biological process
GO:0047598	7-dehydrocholesterol reductase activity	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006695	cholesterol biosynthetic process	IEA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0047598	7-dehydrocholesterol reductase activity	IDA	molecular function
GO:0005640	nuclear outer membrane	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0006695	cholesterol biosynthetic process	IMP	biological process
GO:0050661	NADP binding	ISS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00100	Steroid biosynthesis

Diseases

Associated diseases	References
Smith-Lemli-Opitz syndrome	KEGG:H00161
Smith-Lemli-Opitz syndrome	KEGG:H00161
Smith-Lemli-Opitz syndrome	PMID:9683613
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray