Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 1718, updated on 28-Oct-2018

    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; Vega:OTTHUMG00000009989
    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

    Genomic context

    See DHCR24 in Genome Data Viewer
    Location:
    1p32.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (54849627..54887248, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (55315300..55352921, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene tetratricopeptide repeat domain 22 Neighboring gene lymphocyte expansion molecule Neighboring gene DHCR24 divergent transcript Neighboring gene transfer RNA lysine (anticodon CUU)

    Genomic regions, transcripts, and products

    Expression

    • 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    HIV-1 interactions

    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

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA0018

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    FAD binding IEA
    Inferred from Electronic Annotation
    more info
     
    delta24(24-1) sterol reductase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    delta24(24-1) sterol reductase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    delta24-sterol reductase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peptide antigen binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    apoptotic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cell cycle arrest NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cholesterol biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cholesterol biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cholesterol biosynthetic process via desmosterol TAS
    Traceable Author Statement
    more info
     
    cholesterol biosynthetic process via lathosterol TAS
    Traceable Author Statement
    more info
     
    negative regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    oxidation-reduction process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of neuron death NAS
    Non-traceable Author Statement
    more info
    PubMed 
    response to oxidative stress IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    skin development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    steroid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    tissue development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane HDA PubMed 
    membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    delta(24)-sterol reductase
    Names
    3 beta-hydroxysterol delta 24-reductase
    desmosterol-to-cholesterol enzyme
    diminuto/dwarf1 homolog
    seladin 1
    selective AD indicator 1
    NP_055577.1

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_008839.1 RefSeqGene

      Range
      5054..42622
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014762.4NP_055577.1  delta(24)-sterol reductase precursor

      See identical proteins and their annotated locations for NP_055577.1

      Status: REVIEWED

      Source sequence(s)
      AC096536, BC004375, BP200916
      Consensus CDS
      CCDS600.1
      UniProtKB/Swiss-Prot
      Q15392
      Related
      ENSP00000497151.1, OTTHUMP00000011685, ENST00000649007.1
      Conserved Domains (1) summary
      COG0277
      Location:114263
      GlcD; FAD/FMN-containing dehydrogenase [Energy production and conversion]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

      Range
      54849627..54887248 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center