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
|
|
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 |
|
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]
|
|
|
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 |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR006094
FAD linked oxidase, N-terminal
IPR016166
FAD-binding, type 2
|
PFAM |
PF01565
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q15392
|
PhosphoSite |
PhosphoSite-Q15392
|
TrEMBL |
Q3LIE7
|
UniProt Splice Variant |
|
Entrez Gene |
1718
|
UniGene |
Hs.608811
|
RefSeq |
NP_055577
|
HUGO |
HGNC:2859
|
OMIM |
606418
|
CCDS |
CCDS600
|
HPRD |
05916
|
IMGT |
|
EMBL |
AB073391
AF261758
AF398336
AF398337
AF398338
AF398339
AF398340
AF398341
AF398342
AK298414
AK304437
AK316427
BC004375
BC011669
CH471059
D13643
|
GenPept |
AAG17288
AAH04375
AAH11669
AAL15644
BAA02806
BAE45721
BAH12782
BAH14186
BAH14798
EAX06663
EAX06664
|
|
|