DHCR24 24-dehydrocholesterol reductase [Homo sapiens (human)] - Gene

Summary

Official Symbol: DHCR24provided by HGNC
Official Full Name: 24-dehydrocholesterol reductaseprovided by HGNC
Primary source: HGNC:HGNC:2859
See related: Ensembl:ENSG00000116133 MIM:606418; AllianceGenome:HGNC:2859
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DCE; SELADIN1; Nbla03646; seladin-1
Summary: 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]
Expression: Biased expression in adrenal (RPKM 515.3), liver (RPKM 200.4) and 12 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 1p32.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (54849627..54887195, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (54729905..54767373, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (55315300..55352868, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DHCR24 Insufficiency Promotes Vascular Endothelial Cell Senescence and Endothelial Dysfunction via Inhibition of Caveolin-1/ERK Signaling.
Title: DHCR24 Insufficiency Promotes Vascular Endothelial Cell Senescence and Endothelial Dysfunction via Inhibition of Caveolin-1/ERK Signaling.
High fat diet induces brain injury and neuronal apoptosis via down-regulating 3-beta hydroxycholesterol 24 reductase (DHCR24).
Title: High fat diet induces brain injury and neuronal apoptosis via down-regulating 3-β hydroxycholesterol 24 reductase (DHCR24).
Cellular cholesterol loss by DHCR24 knockdown leads to Abeta production by changing APP intracellular localization.
Title: Cellular cholesterol loss by DHCR24 knockdown leads to Aβ production by changing APP intracellular localization.
LncRNA ENST00000370438 promotes cell proliferation by upregulating DHCR24 in breast cancer.
Title: LncRNA ENST00000370438 promotes cell proliferation by upregulating DHCR24 in breast cancer.
Anticancer peptide Q7 suppresses the growth and migration of human endometrial cancer by inhibiting DHCR24 expression and modulating the AKT-mediated pathway.
Title: Anticancer peptide Q7 suppresses the growth and migration of human endometrial cancer by inhibiting DHCR24 expression and modulating the AKT-mediated pathway.
Hsa_circ_0003221 facilitates the malignant development of bladder cancer cells via resulting in the upregulation of DHCR24 by targeting miR-892b.
Title: Hsa_circ_0003221 facilitates the malignant development of bladder cancer cells via resulting in the upregulation of DHCR24 by targeting miR-892b.
The role of DHCR24 in the pathogenesis of AD: re-cognition of the relationship between cholesterol and AD pathogenesis.
Title: The role of DHCR24 in the pathogenesis of AD: re-cognition of the relationship between cholesterol and AD pathogenesis.
24-Dehydrocholesterol Reductase alleviates oxidative damage-induced apoptosis in alveolar epithelial cells via regulating Phosphatidylinositol-3-Kinase/Protein Kinase B activation.
Title: 24-Dehydrocholesterol Reductase alleviates oxidative damage-induced apoptosis in alveolar epithelial cells via regulating Phosphatidylinositol-3-Kinase/Protein Kinase B activation.
Oncogenic role of the SOX9-DHCR24-cholesterol biosynthesis axis in IGH-BCL2+ diffuse large B-cell lymphomas.
Title: Oncogenic role of the SOX9-DHCR24-cholesterol biosynthesis axis in IGH-BCL2+ diffuse large B-cell lymphomas.
A variant near DHCR24 associates with microstructural properties of white matter and peripheral lipid metabolism in adolescents.
Title: A variant near DHCR24 associates with microstructural properties of white matter and peripheral lipid metabolism in adolescents.

Submit: New GeneRIF Correction See all GeneRIFs (59)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Desmosterolosis MedGen: C1865596 OMIM: 602398 GeneReviews: Not available	Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160 is identified to have a physical interaction with 24-dehydrocholesterol reductase (DHCR24) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

SHGC-74871 (e-PCR)
- UniSTS:80242

RH68204 (e-PCR)
- UniSTS:72823

DHCR24 (e-PCR)
- UniSTS:503206

Gene Ontology Provided by GOA

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	IMP Inferred from Mutant Phenotype more info	PubMed
enables delta24-sterol reductase activity	EXP Inferred from Experiment more info	PubMed
enables delta24-sterol reductase activity	TAS Traceable Author Statement more info
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	IDA Inferred from Direct Assay more info	PubMed
enables peptide antigen binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Ras protein signal transduction	IEA Inferred from Electronic Annotation more info
involved_in amyloid precursor protein catabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cholesterol biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cholesterol biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in cholesterol biosynthetic process	TAS Traceable Author Statement more info
involved_in cholesterol biosynthetic process via desmosterol	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cholesterol biosynthetic process via desmosterol	TAS Traceable Author Statement more info
involved_in cholesterol biosynthetic process via lathosterol	TAS Traceable Author Statement more info
involved_in male genitalia development	IEA Inferred from Electronic Annotation more info
involved_in membrane organization	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in plasminogen activation	IEA Inferred from Electronic Annotation more info
involved_in protein localization	IEA Inferred from Electronic Annotation more info
involved_in response to hormone	IEA Inferred from Electronic Annotation more info
involved_in skin development	ISS Inferred from Sequence or Structural Similarity more info
involved_in steroid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in tissue development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	NAS Non-traceable Author Statement more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: delta(24)-sterol reductase

Names: 3 beta-hydroxysterol delta 24-reductase; 3beta-hydroxysterol delta24 reductase; desmosterol-to-cholesterol enzyme; diminuto/dwarf1 homolog; seladin 1; selective AD indicator 1

NP_055577.1

EC 1.3.1.72

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.