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DHCR24 (24-dehydrocholesterol reductase)

Identity

Alias_namesDCE
desmosterol-to-cholesterol enzyme
Alias_symbol (synonym)KIAA0018
seladin-1
Other aliasNbla03646
SELADIN1
HGNC (Hugo) DHCR24
LocusID (NCBI) 1718
Atlas_Id 40302
Location 1p32.3  [Link to chromosome band 1p32]
Location_base_pair Starts at 54849627 and ends at 54887248 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CNPPD1 (2q35) / DHCR24 (1p32.3)DHCR24 (1p32.3) / B4GALT5 (20q13.13)DHCR24 (1p32.3) / DHCR24 (1p32.3)
DHCR24 (1p32.3) / ERCC6L2 (9q22.32)DHCR24 (1p32.3) / LRP11 (6q25.1)DHCR24 (1p32.3) / PCNX2 (1q42.2)
DHCR24 (1p32.3) / PRKCSH (19p13.2)DHCR24 (1p32.3) / QSOX2 (9q34.3)DHCR24 (1p32.3) / SIAE (11q24.2)
DHCR24 (1p32.3) / THBS1 (15q14)FAM105A (5p15.2) / DHCR24 (1p32.3)GAS5 (1q25.1) / DHCR24 (1p32.3)
LOC100507412 (-) / DHCR24 (1p32.3)USP22 (17p11.2) / DHCR24 (1p32.3)ZNF276 (16q24.3) / DHCR24 (1p32.3)
DHCR24 1p32.3 C9orf102DHCR24 1p32.3 / LRP11 6q25.1DHCR24 1p32.3 / PCNXL2 1q42.2
DHCR24 1p32.3 / PRKCSH 19p13.2DHCR24 1p32.3 / SIAE 11q24.2DHCR24 1p32.3 / THBS1 15q14

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)DHCR24   2859
Cards
Entrez_Gene (NCBI)DHCR24  1718  24-dehydrocholesterol reductase
AliasesDCE; Nbla03646; SELADIN1; seladin-1
GeneCards (Weizmann)DHCR24
Ensembl hg19 (Hinxton)ENSG00000116133 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000116133 [Gene_View]  chr1:54849627-54887248 [Contig_View]  DHCR24 [Vega]
ICGC DataPortalENSG00000116133
TCGA cBioPortalDHCR24
AceView (NCBI)DHCR24
Genatlas (Paris)DHCR24
WikiGenes1718
SOURCE (Princeton)DHCR24
Genetics Home Reference (NIH)DHCR24
Genomic and cartography
GoldenPath hg38 (UCSC)DHCR24  -     chr1:54849627-54887248 -  1p32.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DHCR24  -     1p32.3   [Description]    (hg19-Feb_2009)
EnsemblDHCR24 - 1p32.3 [CytoView hg19]  DHCR24 - 1p32.3 [CytoView hg38]
Mapping of homologs : NCBIDHCR24 [Mapview hg19]  DHCR24 [Mapview hg38]
OMIM602398   606418   
Gene and transcription
Genbank (Entrez)AB073391 AF261758 AI952034 AK298414 AK302774
RefSeq transcript (Entrez)NM_014762
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DHCR24
Cluster EST : UnigeneHs.498727 [ NCBI ]
CGAP (NCI)Hs.498727
Alternative Splicing GalleryENSG00000116133
Gene ExpressionDHCR24 [ NCBI-GEO ]   DHCR24 [ EBI - ARRAY_EXPRESS ]   DHCR24 [ SEEK ]   DHCR24 [ MEM ]
Gene Expression Viewer (FireBrowse)DHCR24 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1718
GTEX Portal (Tissue expression)DHCR24
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15392   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15392  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15392
Splice isoforms : SwissVarQ15392
Catalytic activity : Enzyme1.3.1.72 [ Enzyme-Expasy ]   1.3.1.721.3.1.72 [ IntEnz-EBI ]   1.3.1.72 [ BRENDA ]   1.3.1.72 [ KEGG ]   
PhosPhoSitePlusQ15392
Domaine pattern : Prosite (Expaxy)FAD_PCMH (PS51387)   
Domains : Interpro (EBI)CO_DH_flavot_FAD-bd_sub2    FAD-bd_2    Oxid_FAD_bind_N   
Domain families : Pfam (Sanger)FAD_binding_4 (PF01565)   
Domain families : Pfam (NCBI)pfam01565   
Conserved Domain (NCBI)DHCR24
DMDM Disease mutations1718
Blocks (Seattle)DHCR24
SuperfamilyQ15392
Human Protein AtlasENSG00000116133
Peptide AtlasQ15392
HPRD05916
IPIIPI00016703   IPI01008932   IPI00922718   IPI00922928   
Protein Interaction databases
DIP (DOE-UCLA)Q15392
IntAct (EBI)Q15392
FunCoupENSG00000116133
BioGRIDDHCR24
STRING (EMBL)DHCR24
ZODIACDHCR24
Ontologies - Pathways
QuickGOQ15392
Ontology : AmiGOGolgi membrane  delta24(24-1) sterol reductase activity  nucleus  endoplasmic reticulum  endoplasmic reticulum membrane  endoplasmic reticulum membrane  cytosol  cytoskeleton  cholesterol biosynthetic process  cholesterol biosynthetic process  apoptotic process  response to oxidative stress  cell cycle arrest  Ras protein signal transduction  protein localization  negative regulation of cell proliferation  response to hormone  tissue development  membrane  integral component of membrane  oxidoreductase activity, acting on CH-OH group of donors  oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor  enzyme binding  male genitalia development  plasminogen activation  cholesterol biosynthetic process via desmosterol  cholesterol biosynthetic process via lathosterol  peptide antigen binding  amyloid precursor protein catabolic process  negative regulation of apoptotic process  negative regulation of cysteine-type endopeptidase activity involved in apoptotic process  skin development  delta24-sterol reductase activity  flavin adenine dinucleotide binding  oxidation-reduction process  membrane organization  regulation of neuron death  
Ontology : EGO-EBIGolgi membrane  delta24(24-1) sterol reductase activity  nucleus  endoplasmic reticulum  endoplasmic reticulum membrane  endoplasmic reticulum membrane  cytosol  cytoskeleton  cholesterol biosynthetic process  cholesterol biosynthetic process  apoptotic process  response to oxidative stress  cell cycle arrest  Ras protein signal transduction  protein localization  negative regulation of cell proliferation  response to hormone  tissue development  membrane  integral component of membrane  oxidoreductase activity, acting on CH-OH group of donors  oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor  enzyme binding  male genitalia development  plasminogen activation  cholesterol biosynthetic process via desmosterol  cholesterol biosynthetic process via lathosterol  peptide antigen binding  amyloid precursor protein catabolic process  negative regulation of apoptotic process  negative regulation of cysteine-type endopeptidase activity involved in apoptotic process  skin development  delta24-sterol reductase activity  flavin adenine dinucleotide binding  oxidation-reduction process  membrane organization  regulation of neuron death  
Pathways : KEGGSteroid biosynthesis   
NDEx NetworkDHCR24
Atlas of Cancer Signalling NetworkDHCR24
Wikipedia pathwaysDHCR24
Orthology - Evolution
OrthoDB1718
GeneTree (enSembl)ENSG00000116133
Phylogenetic Trees/Animal Genes : TreeFamDHCR24
HOVERGENQ15392
HOGENOMQ15392
Homologs : HomoloGeneDHCR24
Homology/Alignments : Family Browser (UCSC)DHCR24
Gene fusions - Rearrangements
Fusion : MitelmanDHCR24/ERCC6L2 [1p32.3/9q22.32]  
Fusion : MitelmanDHCR24/LRP11 [1p32.3/6q25.1]  [t(1;6)(p32;q25)]  
Fusion : MitelmanDHCR24/PCNXL2 [1p32.3/1q42.2]  [t(1;1)(p32;q42)]  
Fusion : MitelmanDHCR24/PRKCSH [1p32.3/19p13.2]  [t(1;19)(p32;p13)]  
Fusion : MitelmanDHCR24/SIAE [1p32.3/11q24.2]  [t(1;11)(p32;q24)]  
Fusion : MitelmanDHCR24/THBS1 [1p32.3/15q14]  [t(1;15)(p32;q14)]  
Fusion: TCGADHCR24 1p32.3 C9orf102 PRAD
Fusion: TCGADHCR24 1p32.3 LRP11 6q25.1 PRAD
Fusion: TCGADHCR24 1p32.3 PCNXL2 1q42.2 HNSC
Fusion: TCGADHCR24 1p32.3 PRKCSH 19p13.2 PRAD
Fusion: TCGADHCR24 1p32.3 SIAE 11q24.2 LUAD
Fusion: TCGADHCR24 1p32.3 THBS1 15q14 HNSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDHCR24 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DHCR24
dbVarDHCR24
ClinVarDHCR24
1000_GenomesDHCR24 
Exome Variant ServerDHCR24
ExAC (Exome Aggregation Consortium)DHCR24 (select the gene name)
Genetic variants : HAPMAP1718
Genomic Variants (DGV)DHCR24 [DGVbeta]
DECIPHERDHCR24 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDHCR24 
Mutations
ICGC Data PortalDHCR24 
TCGA Data PortalDHCR24 
Broad Tumor PortalDHCR24
OASIS PortalDHCR24 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDHCR24  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDHCR24
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DHCR24
DgiDB (Drug Gene Interaction Database)DHCR24
DoCM (Curated mutations)DHCR24 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DHCR24 (select a term)
intoGenDHCR24
Cancer3DDHCR24(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602398    606418   
Orphanet10370   
MedgenDHCR24
Genetic Testing Registry DHCR24
NextProtQ15392 [Medical]
TSGene1718
GENETestsDHCR24
Huge Navigator DHCR24 [HugePedia]
snp3D : Map Gene to Disease1718
BioCentury BCIQDHCR24
ClinGenDHCR24
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1718
Chemical/Pharm GKB GenePA27320
Clinical trialDHCR24
Miscellaneous
canSAR (ICR)DHCR24 (select the gene name)
Probes
Litterature
PubMed60 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDHCR24
EVEXDHCR24
GoPubMedDHCR24
iHOPDHCR24
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:13:12 CEST 2017

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