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Aliases for DHCR24 Gene

Aliases for DHCR24 Gene

  • 24-Dehydrocholesterol Reductase 2 3 4
  • 3-Beta-Hydroxysterol Delta-24-Reductase 3 4
  • Diminuto/Dwarf1 Homolog 3 4
  • Seladin-1 3 4
  • KIAA0018 4 6
  • 3 Beta-Hydroxysterol Delta 24-Reductase 3
  • Desmosterol-To-Cholesterol Enzyme 3
  • Delta(24)-Sterol Reductase 3
  • Selective AD Indicator 1 3
  • EC 1.3.1.72 4
  • Seladin 1 3
  • Nbla03646 3
  • SELADIN1 3
  • DCE 3

External Ids for DHCR24 Gene

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 alzheimer disease. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include enzyme binding and peptide antigen 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

Genomic Location for DHCR24 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DHCR24 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DHCR24 Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys254, Lys301, Lys313, Lys367, Lys376, Lys492, Lys496, and Lys509

Other Protein References for DHCR24 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for DHCR24 Gene

Domains for DHCR24 Gene

Protein Domains for DHCR24 Gene

UniProtKB/Swiss-Prot:

DHC24_HUMAN
Domain:
  • Contains 1 FAD-binding PCMH-type domain.:
    • Q15392
Family:
  • Belongs to the FAD-binding oxidoreductase/transferase type 4 family.:
    • Q15392
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:0003824 catalytic activity --
GO:0008762 UDP-N-acetylmuramate dehydrogenase activity IEA --
GO:0016491 oxidoreductase activity --
GO:0016614 oxidoreductase activity, acting on CH-OH group of donors --
genes like me logo Genes that share ontologies with DHCR24: view
genes like me logo Genes that share phenotypes with DHCR24: view

No data available for Animal Models , Transcription Factor Targeting 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 2
cytosol 2
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for DHCR24 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005634 nucleus IDA 15577914
GO:0005737 cytoplasm --
GO:0005783 endoplasmic reticulum IDA 11007892
GO:0005789 endoplasmic reticulum membrane TAS --
genes like me logo Genes that share ontologies with DHCR24: view

Pathways 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 TAS --
GO:0006915 apoptotic process NAS 11007892
GO:0006979 response to oxidative stress IEP 11007892
GO:0007050 cell cycle arrest NAS 15577914
GO:0007265 Ras protein signal transduction IEA --
genes like me logo Genes that share ontologies with DHCR24: view

Compounds for DHCR24 Gene

(20) HMDB Compounds for DHCR24 Gene

Compound Synonyms Cas Number PubMed IDs
24,25-Dihydrolanosterol
79-62-9
24-Methylenecholesterol
  • (3b)-Ergosta-5,24(28)-dien-3-ol
474-63-5
4,4-Dimethyl-5a-cholesta-8,24-dien-3-b-ol
  • 14-demethyllanosterol
7448-02-4
4,4-Dimethyl-5a-cholesta-8-en-3b-ol
  • 4,4-Dimethyl-5alpha-cholesta-8-en-3beta-ol
Not Available
5a-Cholest-8-en-3b-ol
  • 5alpha-Cholest-8(9)-en-3beta-ol
566-97-2

(6) Novoseek inferred chemical compound relationships for DHCR24 Gene

Compound -log(P) Hits PubMed IDs
3beta-hydroxysterol 96.1 5
desmosterol 95.6 15
cholesterol 60.8 25
sterol 58.3 4
steroid 34.8 1
genes like me logo Genes that share compounds with DHCR24: view

Transcripts for DHCR24 Gene

Unigene Clusters for DHCR24 Gene

24-dehydrocholesterol reductase:
Representative Sequences:

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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Adrenal Gland (12.3), Liver (5.5), and Brain - Spinal cord (cervical c-1) (4.1).

Integrated Proteomics: protein expression 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 expressions with DHCR24: view

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
  • 99.22 (n)
  • 99.81 (a)
DHCR24 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DHCR24 36
  • 91.86 (n)
  • 96.9 (a)
DHCR24 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DHCR24 36
  • 92.89 (n)
  • 96.9 (a)
DHCR24 37
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dhcr24 36
  • 91.34 (n)
  • 96.9 (a)
Dhcr24 16
Dhcr24 37
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DHCR24 37
  • 46 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DHCR24 37
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dhcr24 36
  • 90.83 (n)
  • 96.71 (a)
chicken
(Gallus gallus)
Aves DHCR24 36
  • 76.16 (n)
  • 78.29 (a)
DHCR24 37
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DHCR24 37
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dhcr24 36
  • 70.54 (n)
  • 78.29 (a)
zebrafish
(Danio rerio)
Actinopterygii dhcr24 36
  • 73.64 (n)
  • 79.46 (a)
dhcr24 37
  • 79 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F52H2.6 36
  • 53.27 (n)
  • 50.51 (a)
F52H2.6 37
  • 48 (a)
OneToOne
Y7A5A.1 38
  • 38 (a)
F52H2.6 38
  • 49 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons DWF1 36
  • 52.84 (n)
  • 43.36 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.3024 36
corn
(Zea mays)
Liliopsida Zm.6146 36
rice
(Oryza sativa)
Liliopsida Os.7216 36
Os10g0397400 36
  • 55.51 (n)
  • 44.2 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.28334 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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

Selected 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 MAF
rs7373 -- 54,849,938(+) GAGAG(C/G)CTTAC utr-variant-3-prime
rs7374 -- 54,850,649(-) CAAGG(C/T)CAGCT utr-variant-3-prime
rs8990 -- 54,850,745(-) ACCCA(C/T)GGAAA utr-variant-3-prime
rs10299 -- 54,850,070(-) CAGTC(C/T)TCTTA utr-variant-3-prime
rs582222 -- 54,863,432(+) tctgg(C/T)gcctg intron-variant

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

Relevant External Links for DHCR24 Gene

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

Disorders for DHCR24 Gene

(1) OMIM Diseases for DHCR24 Gene (606418)

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.

(1) University of Copenhagen DISEASES for DHCR24 Gene

(4) Novoseek inferred disease relationships for DHCR24 Gene

Disease -log(P) Hits PubMed IDs
desmosterolosis 93.7 6
alzheimers disease 69 14
adenoma 10.7 1
cancer 0 1

Relevant External Links for DHCR24

Genetic Association Database (GAD)
DHCR24
Human Genome Epidemiology (HuGE) Navigator
DHCR24
genes like me logo Genes that share disorders with DHCR24: view

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
  2. The human DIMINUTO/DWARF1 homolog seladin-1 confers resistance to Alzheimer's disease-associated neurodegeneration and oxidative stress. (PMID: 11007892) Greeve I. … Nitsch R.M. (J. Neurosci. 2000) 3 4 23
  3. Maternal and fetal variation in genes of cholesterol metabolism is associated with preterm delivery. (PMID: 17855807) Steffen K.M. … Murray J.C. (J Perinatol 2007) 3 49
  4. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PMID: 18660489) Lu Y. … Boer J.M. (J. Lipid Res. 2008) 3 49
  5. Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay. (PMID: 12457401) Andersson H.C. … Kelley R. (Am. J. Med. Genet. 2002) 3 23

Products for DHCR24 Gene

Sources for DHCR24 Gene

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