Entity Details

Primary name DHC24_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ15392
EntryNameDHC24_HUMAN
FullNameDelta(24)-sterol reductase
TaxID9606
Evidenceevidence at protein level
Length516
SequenceStatuscomplete
DateCreated1998-07-15
DateModified2021-06-02

Ontological Relatives

GenesDHCR24

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0000246 delta24(24-1) sterol reductase activity
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0006695 cholesterol biosynthetic process
GO:0006915 apoptotic process
GO:0006979 response to oxidative stress
GO:0008202 steroid metabolic process
GO:0009888 tissue development
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016628 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor
GO:0019899 enzyme binding
GO:0033489 cholesterol biosynthetic process via desmosterol
GO:0033490 cholesterol biosynthetic process via lathosterol
GO:0042605 peptide antigen binding
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:0050614 delta24-sterol reductase activity
GO:0071949 FAD binding
GO:1901214 regulation of neuron death

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane
Golgi apparatus membrane

Domains

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DomainNameCategoryType
IPR006094 FAD linked oxidase, N-terminalDomainDomain
IPR016166 FAD-binding domain, PCMH-typeDomainDomain
IPR016169 FAD-binding, type PCMH, subdomain 2FamilyHomologous superfamily
IPR036318 FAD-binding, type PCMH-like superfamilyFamilyHomologous superfamily
IPR040165 Delta(24)-sterol reductaseFamilyFamily

Diseases

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Disease IDSourceNameDescription
602398 OMIMDesmosterolosis (DESMOS)Rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells. The disease is caused by variants affecting the gene represented in this entry.

Interactions

3 interactions

InteractorPartnerSourcesPublicationsLink
DHC24_HUMANCCR4_HUMANBioGRID, MINT28298427 details
DHC24_HUMANDISC1_HUMANIntAct31413325 details
DHC24_HUMANP53_HUMANBioGRID, HPRD15577914 32807901 details