Homo sapiens Gene: DHCR7 | |||||||||||||||||||||||
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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
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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.
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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] |
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Gene Information | |||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||
Genomic Location | Chromosome 11:71428193-71452868 | ||||||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||||||
Band | q13.4 | ||||||||||||||||||||||
Transcripts | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||||||
NETPATH | |||||||||||||||||||||||
REACTOME |
Activation of gene expression by SREBF (SREBP) pathway
Regulation of cholesterol biosynthesis by SREBP (SREBF) pathway
Cholesterol biosynthesis pathway
Metabolism of lipids and lipoproteins pathway
Metabolism pathway
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KEGG |
Steroid biosynthesis pathway
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INOH |
Steroids metabolism pathway
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PID NCI | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | |||||||||||||||||||||||
TrEMBL | E9PIP9 E9PJ54 E9PQ71 E9PRL8 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 1717 | ||||||||||||||||||||||
UniGene | Hs.503134 Hs.639004 | ||||||||||||||||||||||
RefSeq | NM_001163817 NM_001360 | ||||||||||||||||||||||
HUGO | HGNC:2860 | ||||||||||||||||||||||
OMIM | 602858 | ||||||||||||||||||||||
CCDS | CCDS8200 | ||||||||||||||||||||||
HPRD | 04174 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AP002387 | ||||||||||||||||||||||
GenPept | |||||||||||||||||||||||
RNA Seq Atlas | 1717 | ||||||||||||||||||||||