InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DHCR24

Summary

InnateDB Protein

IDBP-99056.6

Last Modified

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

Gene Symbol

DHCR24

Protein Name

24-dehydrocholesterol reductase

Synonyms

DCE; Nbla03646; seladin-1; SELADIN1;

Species

Homo sapiens

Ensembl Protein

ENSP00000360316

InnateDB Gene

IDBG-99054 (DHCR24)

Protein Structure

UniProt Annotation

Function

Catalyzes the reduction of the delta-24 double bond of sterol intermediates. Protects cells from oxidative stress by reducing caspase 3 activity during apoptosis induced by oxidative stress. Also protects against amyloid-beta peptide-induced apoptosis. {ECO:0000269PubMed:11007892, ECO:0000269PubMed:11519011, ECO:0000269PubMed:22010141}.

Subcellular Localization

Endoplasmic reticulum membrane; Single-pass membrane protein. Golgi apparatus membrane; Single-pass membrane protein.

Disease Associations

Desmosterolosis (DESMOS) [MIM:602398]: Rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells. {ECO:0000269PubMed:11519011}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highly expressed in brain and adrenal gland with moderate expression in liver, lung, spleen, prostate and spinal cord. Low expression in heart, uterus and prostate. Undetectable in blood cells. In the brain, strongly expressed in cortical regions, substantia nigra, caudate nucleus, hippocampus, medulla oblongata and pons. In brains affected by Alzheimer disease, expression in the inferior temporal lobe is substantially lower than in the frontal cortex. {ECO:0000269PubMed:11007892, ECO:0000269PubMed:11519011}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	5 [view]
Protein-Protein	5 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0008762	UDP-N-acetylmuramate dehydrogenase activity
GO:0016491	oxidoreductase activity
GO:0016614	oxidoreductase activity, acting on CH-OH group of donors
GO:0016628	oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor
GO:0019899	enzyme binding
GO:0042605	peptide antigen binding
GO:0050614	delta24-sterol reductase activity
GO:0050660	flavin adenine dinucleotide binding

Biological Process

GO:0006695	cholesterol biosynthetic process
GO:0006915	apoptotic process
GO:0006979	response to oxidative stress
GO:0007050	cell cycle arrest
GO:0007265	Ras protein signal transduction
GO:0008104	protein localization
GO:0008202	steroid metabolic process
GO:0008203	cholesterol metabolic process
GO:0008285	negative regulation of cell proliferation
GO:0009725	response to hormone
GO:0009888	tissue development
GO:0016125	sterol metabolic process
GO:0030539	male genitalia development
GO:0031639	plasminogen activation
GO:0042987	amyloid precursor protein catabolic process
GO:0043066	negative regulation of apoptotic process
GO:0043154	negative regulation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0043588	skin development
GO:0044281	small molecule metabolic process
GO:0045087	innate immune response (InnateDB)
GO:0055114	oxidation-reduction process
GO:0061024	membrane organization
GO:1901214	regulation of neuron death

Cellular Component

GO:0000139	Golgi membrane
GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005783	endoplasmic reticulum
GO:0005789	endoplasmic reticulum membrane
GO:0005829	cytosol
GO:0005856	cytoskeleton
GO:0016020	membrane
GO:0016021	integral component of membrane