InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: Dhcr7

Summary

InnateDB Gene

IDBG-212845.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Dhcr7

Gene Name

7-dehydrocholesterol reductase

Synonyms

AA409147

Species

Mus musculus

Ensembl Gene

ENSMUSG00000058454

Encoded Proteins

IDBP-212847

7-dehydrocholesterol reductase

IDBP-541050

7-dehydrocholesterol reductase

IDBP-537910

7-dehydrocholesterol reductase

IDBP-539894

7-dehydrocholesterol reductase

IDBP-540356

7-dehydrocholesterol reductase

IDBP-537150

7-dehydrocholesterol reductase

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

InnateDB Annotation

Summary

PMID 26938778

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 does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000172893:
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 7:143823145-143848410

Strand

Forward strand

Band

Transcripts

ENSMUST00000073878	ENSMUSP00000073541
ENSMUST00000139748
ENSMUST00000128454	ENSMUSP00000119855
ENSMUST00000124340	ENSMUSP00000117659
ENSMUST00000141916	ENSMUSP00000121782
ENSMUST00000144034	ENSMUSP00000118957
ENSMUST00000143338	ENSMUSP00000119984
ENSMUST00000125564
ENSMUST00000128610
ENSMUST00000145471

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.

Predicted by orthology
Total	8 [view]

Gene Ontology

Molecular Function

Accession	GO Term
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:0045087	innate immune response (InnateDB)
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