DHCR24

Protein identityUniProt · HPA

UniProt accession

Q15392

Gene

DHCR24

Ensembl

ENSG00000116133

Chromosome

1

Canonical length

516 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins

OverviewNCBI Gene

This gene encodes a flavin adenine dinucleotide (FAD)-dependent oxidoreductase which catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis. The protein contains a leader sequence that directs it to the endoplasmic reticulum membrane. Missense mutations in this gene have been associated with desmosterolosis. Also, reduced expression of the gene occurs in the temporal cortex of Alzheimer disease patients and overexpression has been observed in adrenal gland cancer cells. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

516 residues, UniProt reviewed canonical sequence.

>Q15392|DHCR24
     1  MEPAVSLAVC ALLFLLWVRL KGLEFVLIHQ RWVFVCLFLL PLSLIFDIYY YVRAWVVFKL
    61  SSAPRLHEQR VRDIQKQVRE WKEQGSKTFM CTGRPGWLTV SLRVGKYKKT HKNIMINLMD
   121  ILEVDTKKQI VRVEPLVTMG QVTALLTSIG WTLPVLPELD DLTVGGLIMG TGIESSSHKY
   181  GLFQHICTAY ELVLADGSFV RCTPSENSDL FYAVPWSCGT LGFLVAAEIR IIPAKKYVKL
   241  RFEPVRGLEA ICAKFTHESQ RQENHFVEGL LYSLDEAVIM TGVMTDEAEP SKLNSIGNYY
   301  KPWFFKHVEN YLKTNREGLE YIPLRHYYHR HTRSIFWELQ DIIPFGNNPI FRYLFGWMVP
   361  PKISLLKLTQ GETLRKLYEQ HHVVQDMLVP MKCLQQALHT FQNDIHVYPI WLCPFILPSQ
   421  PGLVHPKGNE AELYIDIGAY GEPRVKHFEA RSCMRQLEKF VRSVHGFQML YADCYMNREE
   481  FWEMFDGSLY HKLREKLGCQ DAFPEVYDKI CKAARH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DHCR24 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.22

Highest tissue expression

1,055 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DHCR24.

Disease | AllUniProt

Conditions DHCR24 is implicated in, by any mechanism.

• Desmosterolosis (DESMOS) MIM:602398

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 379 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Desmosterolosis
• Non-immune hydrops fetalis

ReferencesPubMed · IEDB

Publications for DHCR24 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.52

gnomAD pLI

0.03

gnomAD missense Z

1.5

DepMap mean gene effect

-0.02

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• amyloid precursor protein catabolic process
• cholesterol biosynthetic process
• cholesterol biosynthetic process via desmosterol
• cholesterol biosynthetic process via lathosterol
• intracellular protein localization
• male genitalia development
• membrane organization
• negative regulation of cell population proliferation
• plasminogen activation
• Ras protein signal transduction
• response to hormone
• skin development
• steroid metabolic process
• tissue development

Molecular functions

• enzyme binding
• FAD binding
• oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor
• peptide antigen binding
• Delta24(24-1) sterol reductase activity
• Delta24-sterol reductase activity

Cellular components

• cytoplasm
• endoplasmic reticulum
• endoplasmic reticulum membrane
• Golgi membrane
• membrane
• nucleus

Protein domainsUniProt · Pfam · InterPro

• FAD linked oxidase, N-terminal
• FAD-binding domain, PCMH-type
• FAD-binding, type PCMH, subdomain 2
• FAD-binding, type PCMH-like superfamily
• FAD binding domain
• Delta(24)-sterol reductase

KeywordsUniProt

• Cholesterol biosynthesis
• Cholesterol metabolism
• Endoplasmic reticulum
• FAD
• Flavoprotein
• Golgi apparatus
• Lipid biosynthesis
• Lipid metabolism
• Membrane
• NADP
• Oxidoreductase
• Signal
• Steroid biosynthesis
• Steroid metabolism
• Sterol biosynthesis
• Sterol metabolism
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of DHCR24 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• DHCR7
• CAV2
• PGRMC1
• SLC30A7