Homo sapiens Gene: DHCR7
Summary
InnateDB Gene IDBG-62563.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DHCR7
Gene Name 7-dehydrocholesterol reductase
Synonyms SLOS;
Species Homo sapiens
Ensembl Gene ENSG00000172893
Encoded Proteins
7-dehydrocholesterol reductase
7-dehydrocholesterol reductase
7-dehydrocholesterol reductase
7-dehydrocholesterol reductase
7-dehydrocholesterol reductase
7-dehydrocholesterol reductase
7-dehydrocholesterol reductase
7-dehydrocholesterol reductase
7-dehydrocholesterol reductase
7-dehydrocholesterol reductase
7-dehydrocholesterol reductase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
InnateDB Annotation from Orthologs
Summary
[Mus musculus] Mir342 is involved in a novel post-transcriptional viral defence mechanism in IFN-activated macrophages by directly targeting Srebf2, Idi1, Dhcr7 and Sc4mol of the sterol pathway.
Entrez Gene
Summary 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 reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by mental retardation, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Aug 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:71428193-71452868
Strand Reverse strand
Band q13.4
Transcripts
ENST00000355527 ENSP00000347717
ENST00000407721 ENSP00000384739
ENST00000534795 ENSP00000432256
ENST00000533800 ENSP00000435011
ENST00000525137 ENSP00000435956
ENST00000527316 ENSP00000435047
ENST00000534701
ENST00000526780 ENSP00000435668
ENST00000525346 ENSP00000435707
ENST00000531364 ENSP00000432589
ENST00000529990 ENSP00000435058
ENST00000527452 ENSP00000436007
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
Experimentally validated
Total 13 [view]
Protein-Protein 13 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0016628 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor
GO:0047598 7-dehydrocholesterol reductase activity
Biological Process
GO:0001568 blood vessel development
GO:0006695 cholesterol biosynthetic process
GO:0009791 post-embryonic development
GO:0016126 sterol biosynthetic process
GO:0030154 cell differentiation
GO:0030324 lung development
GO:0035264 multicellular organism growth
GO:0042127 regulation of cell proliferation
GO:0044281 small molecule metabolic process
GO:0045540 regulation of cholesterol biosynthetic process
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005640 nuclear outer membrane
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0043231 intracellular membrane-bounded organelle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Activation of gene expression by SREBF (SREBP) pathway
Metabolism of lipids and lipoproteins pathway
Cholesterol biosynthesis pathway
Regulation of cholesterol biosynthesis by SREBP (SREBF) pathway
Metabolism pathway
KEGG
Steroid biosynthesis pathway
INOH
Steroids metabolism pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.503134 Hs.639004
RefSeq NM_001163817 NM_001360
HUGO
OMIM
CCDS CCDS8200
HPRD 04174
IMGT
EMBL
GenPept
RNA Seq Atlas