InnateDB: Systems Biology of the Innate Immune Response

Bos taurus Gene: NSDHL

Summary

InnateDB Gene

IDBG-631956.3

Last Modified

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

Gene Symbol

NSDHL

Gene Name

Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating

Synonyms

Species

Bos taurus

Ensembl Gene

ENSBTAG00000009231

Encoded Proteins

IDBP-683539

Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000147383:
The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. Alternatively spliced transcript variants with differing 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome X:35387262-35413263

Strand

Forward strand

Band

Transcripts

ENSBTAT00000012167

ENSBTAP00000012167

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0003854	3-beta-hydroxy-delta5-steroid dehydrogenase activity
GO:0016491	oxidoreductase activity
GO:0016616	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor
GO:0047012	sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity
GO:0050662	coenzyme binding

Biological Process

GO:0001942	hair follicle development
GO:0006629	lipid metabolic process
GO:0006694	steroid biosynthetic process
GO:0006695	cholesterol biosynthetic process
GO:0007224	smoothened signaling pathway
GO:0008202	steroid metabolic process
GO:0008203	cholesterol metabolic process
GO:0009058	biosynthetic process
GO:0016126	sterol biosynthetic process
GO:0055114	oxidation-reduction process
GO:0060716	labyrinthine layer blood vessel development

Cellular Component

GO:0005783	endoplasmic reticulum
GO:0005789	endoplasmic reticulum membrane
GO:0005811	lipid particle
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0043231	intracellular membrane-bounded organelle