Free for academic non-profit institutions. Other users need a Commercial license

Aliases for DHCR24 Gene

Aliases for DHCR24 Gene

  • 24-Dehydrocholesterol Reductase 2 3 4 5
  • 3-Beta-Hydroxysterol Delta-24-Reductase 3 4
  • Desmosterol-To-Cholesterol Enzyme 2 3
  • Diminuto/Dwarf1 Homolog 3 4
  • Seladin-1 3 4
  • 3 Beta-Hydroxysterol Delta 24-Reductase 3
  • Selective AD Indicator 1 3
  • EC 1.3.1.72 4
  • Seladin 1 3
  • Nbla03646 3
  • SELADIN1 3
  • KIAA0018 4
  • DCE 3

External Ids for DHCR24 Gene

Previous HGNC Symbols for DHCR24 Gene

  • DCE

Previous GeneCards Identifiers for DHCR24 Gene

  • GC01M055152
  • GC01M054217
  • GC01M054659
  • GC01M054685
  • GC01M055027
  • GC01M055315
  • GC01M053429

Summaries for DHCR24 Gene

Entrez Gene Summary for DHCR24 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]

GeneCards Summary for DHCR24 Gene

DHCR24 (24-Dehydrocholesterol Reductase) is a Protein Coding gene. Diseases associated with DHCR24 include desmosterolosis and ehlers-danlos syndrome, progeroid type, 2. Among its related pathways are Metabolism and Tryptophan metabolism. GO annotations related to this gene include enzyme binding and flavin adenine dinucleotide binding.

UniProtKB/Swiss-Prot for DHCR24 Gene

  • 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.

Gene Wiki entry for DHCR24 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DHCR24 Gene

Genomics for DHCR24 Gene

Regulatory Elements for DHCR24 Gene

Promoters for DHCR24 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around DHCR24 on UCSC Golden Path with GeneCards custom track

Genomic Location for DHCR24 Gene

Chromosome:
1
Start:
54,849,627 bp from pter
End:
54,887,248 bp from pter
Size:
37,622 bases
Orientation:
Minus strand

Genomic View for DHCR24 Gene

Genes around DHCR24 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DHCR24 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DHCR24 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DHCR24 Gene

Proteins for DHCR24 Gene

  • Protein details for DHCR24 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15392-DHC24_HUMAN
    Recommended name:
    Delta(24)-sterol reductase
    Protein Accession:
    Q15392
    Secondary Accessions:
    • B7Z817
    • D3DQ51
    • Q9HBA8

    Protein attributes for DHCR24 Gene

    Size:
    516 amino acids
    Molecular mass:
    60101 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA02806.3; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for DHCR24 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DHCR24 Gene

Proteomics data for DHCR24 Gene at MOPED

Post-translational modifications for DHCR24 Gene

  • Ubiquitination at Lys 254, Lys 301, Lys 313, Lys 367, Lys 376, Lys 492, Lys 496, and Lys 509
  • Modification sites at PhosphoSitePlus

Other Protein References for DHCR24 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for DHCR24 (Diminuto)

No data available for DME Specific Peptides for DHCR24 Gene

Domains & Families for DHCR24 Gene

Protein Domains for DHCR24 Gene

Graphical View of Domain Structure for InterPro Entry

Q15392

UniProtKB/Swiss-Prot:

DHC24_HUMAN :
  • Contains 1 FAD-binding PCMH-type domain.
  • Belongs to the FAD-binding oxidoreductase/transferase type 4 family.
Domain:
  • Contains 1 FAD-binding PCMH-type domain.
Family:
  • Belongs to the FAD-binding oxidoreductase/transferase type 4 family.
genes like me logo Genes that share domains with DHCR24: view

No data available for Gene Families for DHCR24 Gene

Function for DHCR24 Gene

Molecular function for DHCR24 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
5-alpha-cholest-7-en-3-beta-ol + NADP(+) = 5-alpha-cholesta-7,24-dien-3-beta-ol + NADPH.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for DHCR24 Gene

Gene Ontology (GO) - Molecular Function for DHCR24 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000246 delta24(24-1) sterol reductase activity IMP 11519011
GO:0050660 flavin adenine dinucleotide binding IEA --
genes like me logo Genes that share ontologies with DHCR24: view
genes like me logo Genes that share phenotypes with DHCR24: view

Human Phenotype Ontology for DHCR24 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DHCR24 Gene

MGI Knock Outs for DHCR24:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for DHCR24 Gene

Localization for DHCR24 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DHCR24 Gene

Endoplasmic reticulum membrane; Single-pass membrane protein. Golgi apparatus membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DHCR24 Gene COMPARTMENTS Subcellular localization image for DHCR24 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
nucleus 5
cytoskeleton 3
cytosol 2
peroxisome 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for DHCR24 Gene

Pathways & Interactions for DHCR24 Gene

genes like me logo Genes that share pathways with DHCR24: view

UniProtKB/Swiss-Prot Q15392-DHC24_HUMAN

  • Pathway: Steroid biosynthesis; cholesterol biosynthesis.

Gene Ontology (GO) - Biological Process for DHCR24 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006695 cholesterol biosynthetic process ISS,TAS --
GO:0006979 response to oxidative stress IEP 11007892
GO:0008104 protein localization IEA --
GO:0008202 steroid metabolic process IEA --
GO:0030539 male genitalia development IEA --
genes like me logo Genes that share ontologies with DHCR24: view

No data available for SIGNOR curated interactions for DHCR24 Gene

Drugs & Compounds for DHCR24 Gene

(4) Drugs for DHCR24 Gene - From: Novoseek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
cholesterol Experimental Pharma Agonist 0
Lanosterin Experimental Pharma 0

(22) Additional Compounds for DHCR24 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
desmosterol
  • 24-Dehydrocholesterol
  • 3beta-cholesta-5,24-dien-3-ol
  • Cholest-5,24-dien-3beta-ol
  • Cholesta-5,24-dien-3-ol
  • Cholesta-5,24-dien-3b-ol
313-04-2
24,25-dihydrolanosterol
79-62-9
24-Methylenecholesterol
  • (3b)-Ergosta-5,24(28)-dien-3-ol
  • 24-Methylencholesterol
  • 24-Methylene-Cholesterol
  • Chalinasterol
  • Ergosta-5, 24(28)-dien-3b-ol
474-63-5
4,4-Dimethyl-5a-cholesta-8,24-dien-3-b-ol
  • (3beta,5alpha)-4,4-dimethylcholesta-8,24-dien-3-ol
  • 14-Demethyllanosterol
  • 4,4-Dimethyl-5 alpha -cholesta-8,24-dien-3 beta -ol
  • 4,4-Dimethyl-5-alpha-cholesta-(8,24)-dien-3-beta-ol
  • 4,4-Dimethyl-5-alpha-cholesta-8,24-dien-3-beta-ol
7448-02-4
4,4-Dimethyl-5a-cholesta-8-en-3b-ol
  • 3beta-hydroxy-4,4-dimethyl-8(9)-cholestene
  • 3beta-hydroxy-4,4-dimethylcholest-8(9)-ene
  • 4,4-Dimethyl-3beta-hydroxy-8(9)-cholestene
  • 4,4-Dimethyl-3beta-hydroxycholest-8(9)-ene
  • 4,4-Dimethyl-5alpha-cholesta-8-en-3beta-ol
genes like me logo Genes that share compounds with DHCR24: view

Transcripts for DHCR24 Gene

mRNA/cDNA for DHCR24 Gene

Unigene Clusters for DHCR24 Gene

24-dehydrocholesterol reductase:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DHCR24 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
SP1: - - -
SP2:
SP3: -
SP4: -
SP5: - - -

Relevant External Links for DHCR24 Gene

GeneLoc Exon Structure for
DHCR24
ECgene alternative splicing isoforms for
DHCR24

Expression for DHCR24 Gene

mRNA expression in normal human tissues for DHCR24 Gene

mRNA differential expression in normal tissues according to GTEx for DHCR24 Gene

This gene is overexpressed in Adrenal Gland (x12.3), Liver (x5.5), and Brain - Spinal cord (cervical c-1) (x4.1).

Protein differential expression in normal tissues from HIPED for DHCR24 Gene

This gene is overexpressed in Fetal testis (45.1) and Adrenal (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for DHCR24 Gene



SOURCE GeneReport for Unigene cluster for DHCR24 Gene Hs.498727

mRNA Expression by UniProt/SwissProt for DHCR24 Gene

Q15392-DHC24_HUMAN
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.
genes like me logo Genes that share expression patterns with DHCR24: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for DHCR24 Gene

Orthologs for DHCR24 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DHCR24 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DHCR24 36
  • 100 (a)
OneToOne
DHCR24 35
  • 99.22 (n)
  • 99.81 (a)
cow
(Bos Taurus)
Mammalia DHCR24 36
  • 97 (a)
OneToOne
DHCR24 35
  • 91.86 (n)
  • 96.9 (a)
dog
(Canis familiaris)
Mammalia DHCR24 35
  • 92.89 (n)
  • 96.9 (a)
DHCR24 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dhcr24 36
  • 97 (a)
OneToOne
Dhcr24 16
Dhcr24 35
  • 91.34 (n)
  • 96.9 (a)
oppossum
(Monodelphis domestica)
Mammalia DHCR24 36
  • 46 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DHCR24 36
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dhcr24 35
  • 90.83 (n)
  • 96.71 (a)
chicken
(Gallus gallus)
Aves DHCR24 35
  • 76.16 (n)
  • 78.29 (a)
DHCR24 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DHCR24 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dhcr24 35
  • 70.54 (n)
  • 78.29 (a)
zebrafish
(Danio rerio)
Actinopterygii dhcr24 35
  • 73.64 (n)
  • 79.46 (a)
dhcr24 36
  • 79 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F52H2.6 36
  • 48 (a)
OneToOne
F52H2.6 37
  • 49 (a)
Y7A5A.1 37
  • 38 (a)
F52H2.6 35
  • 53.27 (n)
  • 50.51 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons DWF1 35
  • 52.84 (n)
  • 43.36 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.3024 35
corn
(Zea mays)
Liliopsida Zm.6146 35
rice
(Oryza sativa)
Liliopsida Os.7216 35
Os10g0397400 35
  • 55.51 (n)
  • 44.2 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.28334 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 61 (a)
OneToOne
Species with no ortholog for DHCR24:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for DHCR24 Gene

ENSEMBL:
Gene Tree for DHCR24 (if available)
TreeFam:
Gene Tree for DHCR24 (if available)

Paralogs for DHCR24 Gene

(1) SIMAP similar genes for DHCR24 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for DHCR24 Gene

genes like me logo Genes that share paralogs with DHCR24: view

No data available for Paralogs for DHCR24 Gene

Variants for DHCR24 Gene

Sequence variations from dbSNP and Humsavar for DHCR24 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_012732 Desmosterolosis (DESMOS)
VAR_012733 Desmosterolosis (DESMOS)
VAR_012734 Desmosterolosis (DESMOS)
rs28939092 Desmosterolosis (DESMOS) 54,852,372(-) GCTGT(A/C)TGCCG reference, missense
rs8990 -- 54,850,745(-) ACCCA(C/T)GGAAA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for DHCR24 Gene

Variant ID Type Subtype PubMed ID
nsv461561 CNV Gain 19166990
nsv817614 CNV Gain 22305530
dgv229n71 CNV Gain 21882294
nsv829915 CNV Gain 17160897
esv2078805 CNV Deletion 18987734
esv2748375 CNV Deletion 23290073
esv995636 CNV Deletion 20482838
esv2748386 CNV Deletion 23290073
esv1764339 CNV Deletion 17803354
esv2676460 CNV Deletion 23128226

Variation tolerance for DHCR24 Gene

Residual Variation Intolerance Score: 13.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.08; 38.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DHCR24 Gene

HapMap Linkage Disequilibrium report
DHCR24
Human Gene Mutation Database (HGMD)
DHCR24

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DHCR24 Gene

Disorders for DHCR24 Gene

MalaCards: The human disease database

(9) MalaCards diseases for DHCR24 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
desmosterolosis
  • deficiency of 3beta-hydroxysterol delta24-reductase
ehlers-danlos syndrome, progeroid type, 2
  • ehlers-danlos syndrome, progeroid type 2
epiphyseal chondrodysplasia, miura type
  • ecdm
hereditary persistence of alpha-fetoprotein
  • alpha-fetoprotein, hereditary persistence
mevalonic aciduria
  • mevalonate kinase deficiency
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DHC24_HUMAN
  • 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:0000269 PubMed:11519011}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DHCR24

Genetic Association Database (GAD)
DHCR24
Human Genome Epidemiology (HuGE) Navigator
DHCR24
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DHCR24
genes like me logo Genes that share disorders with DHCR24: view

No data available for Genatlas for DHCR24 Gene

Publications for DHCR24 Gene

  1. Mutations in the 3beta-hydroxysterol delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. (PMID: 11519011) Waterham H.R. … Wanders R.J.A. (Am. J. Hum. Genet. 2001) 2 3 4 23 67
  2. Seladin-1 expression is regulated by promoter methylation in adrenal cancer. (PMID: 20465827) Simi L. … Orlando C. (BMC Cancer 2010) 3 23
  3. Inhibition of DHCR24/seladin-1 impairs cellular homeostasis in prostate cancer. (PMID: 20166102) Battista M.C. … Gallo-Payet N. (Prostate 2010) 3 23
  4. Down-regulation of seladin-1 increases BACE1 levels and activity through enhanced GGA3 depletion during apoptosis. (PMID: 19815556) SarajAorvi T. … Hiltunen M. (J. Biol. Chem. 2009) 3 23
  5. 24-dehydrocholesterol reductase/seladin-1: a key protein differentially involved in adrenocorticotropin effects observed in human and rat adrenal cortex. (PMID: 19520779) Battista M.C. … Gallo-Payet N. (Endocrinology 2009) 3 23

Products for DHCR24 Gene

Sources for DHCR24 Gene

Back to Top

Content