Dhcr24 24-dehydrocholesterol reductase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dhcr24provided by MGI
Official Full Name: 24-dehydrocholesterol reductaseprovided by MGI
Primary source: MGI:MGI:1922004
See related: Ensembl:ENSMUSG00000034926 AllianceGenome:MGI:1922004
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: mKIAA0018; 2310076D10Rik; 5830417J06Rik
Summary: Predicted to enable enzyme binding activity; oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor; and peptide antigen binding activity. Involved in skin development. Acts upstream of or within several processes, including amyloid precursor protein catabolic process; cholesterol biosynthetic process; and plasminogen activation. Predicted to be located in several cellular components, including cytoskeleton; cytosol; and endoplasmic reticulum. Predicted to be active in cytoplasm and membrane. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; peripheral nervous system ganglion; and sensory organ. Human ortholog(s) of this gene implicated in lipid metabolism disorder. Orthologous to human DHCR24 (24-dehydrocholesterol reductase). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in liver adult (RPKM 318.3), adrenal adult (RPKM 181.1) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 C7; 4 49.67 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (106418279..106446310)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (106561038..106589113)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

3beta-hydroxysteroid-Delta24 reductase dampens anti-viral innate immune responses by targeting K27 ubiquitination of MAVS and STING.
Title: 3β-hydroxysteroid-Δ24 reductase dampens anti-viral innate immune responses by targeting K27 ubiquitination of MAVS and STING.
DHCR24 reverses Alzheimer's disease-related pathology and cognitive impairment via increasing hippocampal cholesterol levels in 5xFAD mice.
Title: DHCR24 reverses Alzheimer's disease-related pathology and cognitive impairment via increasing hippocampal cholesterol levels in 5xFAD mice.
"MiR-7 controls cholesterol biosynthesis through posttranscriptional regulation of DHCR24 expression".
Title: "MiR-7 controls cholesterol biosynthesis through posttranscriptional regulation of DHCR24 expression".
DHCR24 Knockdown Induces Tau Hyperphosphorylation at Thr181, Ser199, Ser262, and Ser396 Sites via Activation of the Lipid Raft-Dependent Ras/MEK/ERK Signaling Pathway in C8D1A Astrocytes.
Title: DHCR24 Knockdown Induces Tau Hyperphosphorylation at Thr181, Ser199, Ser262, and Ser396 Sites via Activation of the Lipid Raft-Dependent Ras/MEK/ERK Signaling Pathway in C8D1A Astrocytes.
3beta-Hydroxysteroid-Delta24 Reductase (DHCR24) Protects Pancreatic beta Cells from Endoplasmic Reticulum Stress-Induced Apoptosis by Scavenging Excessive Intracellular Reactive Oxygen Species.
Title: 3β-Hydroxysteroid-Δ24 Reductase (DHCR24) Protects Pancreatic β Cells from Endoplasmic Reticulum Stress-Induced Apoptosis by Scavenging Excessive Intracellular Reactive Oxygen Species.
DHCR24 overexpression modulates microglia polarization and inflammatory response via Akt/GSK3beta signaling in Abeta25-35 treated BV-2 cells.
Title: DHCR24 overexpression modulates microglia polarization and inflammatory response via Akt/GSK3β signaling in Aβ(25)(-)(35) treated BV-2 cells.
Desmosterolosis and desmosterol homeostasis in the developing mouse brain.
Title: Desmosterolosis and desmosterol homeostasis in the developing mouse brain.
ApoM displayed inhibitory effects against the inflammatory response in vivo and in vitro; these effects may be induced via the S1PR1 and DHCR24 pathways.
Title: Apolipoprotein M induces inhibition of inflammatory responses via the S1PR1 and DHCR24 pathways.
When DHCR24 is genetically deleted there is a decreased association of EAAT2 with lipid rafts after ischemia.
Title: Seladin-1/DHCR24 Is Neuroprotective by Associating EAAT2 Glutamate Transporter to Lipid Rafts in Experimental Stroke.
Data (including data from transgenic mice) suggest that expression of Dhcr24 is down-regulated in brain tissues of mice exhibiting symptoms modeling advanced Huntington's disease.
Title: Altered expression of 3-betahydroxysterol delta-24-reductase/selective Alzheimer's disease indicator-1 gene in Huntington's disease models.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3) 1 citation
Endonuclease-mediated (4)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Dhcr24 (e-PCR), detects polymorphism
- UniSTS:498292

Dhcr24 (e-PCR), detects polymorphism
- UniSTS:546736

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables FAD binding	IEA Inferred from Electronic Annotation more info
enables delta24(24-1) sterol reductase activity	IBA Inferred from Biological aspect of Ancestor more info
enables delta24(24-1) sterol reductase activity	ISO Inferred from Sequence Orthology more info
enables delta24-sterol reductase activity	ISO Inferred from Sequence Orthology more info
enables enzyme binding	ISO Inferred from Sequence Orthology more info
enables flavin adenine dinucleotide binding	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	ISO Inferred from Sequence Orthology more info	PubMed
enables peptide antigen binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in Ras protein signal transduction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within amyloid precursor protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cholesterol biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cholesterol biosynthetic process	ISO Inferred from Sequence Orthology more info	PubMed
involved_in cholesterol biosynthetic process via desmosterol	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cholesterol metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within male genitalia development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within membrane organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within plasminogen activation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skin development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within steroid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in steroid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in steroid metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within sterol biosynthetic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within sterol metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in tissue development	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: delta(24)-sterol reductase

Names: 3-beta-hydroxysterol delta-24-reductase; seladin-1

NP_444502.2

EC 1.3.1.72

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_053272.3 → NP_444502.2 delta(24)-sterol reductase precursor

See identical proteins and their annotated locations for NP_444502.2

Status: VALIDATED

Source sequence(s)

AL929585, BX511043

Consensus CDS

CCDS18420.1

UniProtKB/Swiss-Prot

Q6ZQK9, Q8VCH6, Q91ZD0, Q9CU63

Related

ENSMUSP00000038063.4, ENSMUST00000047973.4

Conserved Domains (2) summary

COG0277
Location:114 → 270

GlcD; FAD/FMN-containing dehydrogenase [Energy production and conversion]

pfam01565
Location:114 → 203

FAD_binding_4; FAD binding domain