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    DHCR7 7-dehydrocholesterol reductase [ Homo sapiens (human) ]

    Gene ID: 1717, updated on 4-Nov-2018

    Summary

    Official Symbol
    DHCR7provided by HGNC
    Official Full Name
    7-dehydrocholesterol reductaseprovided by HGNC
    Primary source
    HGNC:HGNC:2860
    See related
    Ensembl:ENSG00000172893 MIM:602858; Vega:OTTHUMG00000167346
    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
    SLOS
    Summary
    This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by cognitive disability, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Aug 2009]
    Expression
    Broad expression in liver (RPKM 39.9), adrenal (RPKM 35.8) and 24 other tissues See more
    Orthologs

    Genomic context

    See DHCR7 in Genome Data Viewer
    Location:
    11q13.4
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (71434411..71448431, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (71145457..71159477, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene SH3 and multiple ankyrin repeat domains 2 Neighboring gene microRNA 3664 Neighboring gene uncharacterized LOC399923 Neighboring gene NAD synthetase 1 Neighboring gene S100 calcium binding protein A11 pseudogene 3 Neighboring gene microRNA 6754

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Smith-Lemli-Opitz syndrome
    MedGen: C0175694 OMIM: 270400 GeneReviews: Smith-Lemli-Opitz Syndrome
    Compare labs

    NHGRI GWAS Catalog

    Description
    Common genetic determinants of vitamin D insufficiency: a genome-wide association study.
    NHGRI GWA Catalog
    Genome-wide association study of circulating vitamin D levels.
    NHGRI GWA Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify 7-dehydrocholesterol reductase (DHCR7), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify 7-dehydrocholesterol reductase (DHCR7), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Nef nef Tandem affinity purification and mass spectrometry analysis identify 7-dehydrocholesterol reductase (DHCR7), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify 7-dehydrocholesterol reductase (DHCR7), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Vif vif HIV-1 Vif upregulates the expression of 7-dehydrocholesterol reductase (DHCR7) in Vif-expression T cells 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    7-dehydrocholesterol reductase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    7-dehydrocholesterol reductase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    7-dehydrocholesterol reductase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NADP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sterol delta7 reductase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    blood vessel development IEA
    Inferred from Electronic Annotation
    more info
     
    brassinosteroid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    cholesterol biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cholesterol biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cholesterol biosynthetic process via desmosterol TAS
    Traceable Author Statement
    more info
     
    cholesterol biosynthetic process via lathosterol TAS
    Traceable Author Statement
    more info
     
    lung development IEA
    Inferred from Electronic Annotation
    more info
     
    multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cholesterol biosynthetic process TAS
    Traceable Author Statement
    more info
     
    sterol biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    integral component of endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    membrane HDA PubMed 
    nuclear outer membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    7-dehydrocholesterol reductase
    Names
    7-DHC reductase
    delta-7-dehydrocholesterol reductase
    putative sterol reductase SR-2
    sterol delta-7-reductase
    NP_001157289.1
    NP_001351.2
    XP_011543079.1

    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_012655.2 RefSeqGene

      Range
      5001..19021
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_340

    mRNA and Protein(s)

    1. NM_001163817.1NP_001157289.1  7-dehydrocholesterol reductase

      See identical proteins and their annotated locations for NP_001157289.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AI888720, AP002387, DA502590
      Consensus CDS
      CCDS8200.1
      UniProtKB/Swiss-Prot
      Q9UBM7
      UniProtKB/TrEMBL
      A0A024R5F7
      Related
      ENSP00000384739.2, OTTHUMP00000235751, ENST00000407721.6, OTTHUMT00000394242
      Conserved Domains (1) summary
      cl21511
      Location:93475
      PEMT; Phospholipid methyltransferase
    2. NM_001360.2NP_001351.2  7-dehydrocholesterol reductase

      See identical proteins and their annotated locations for NP_001351.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AF062481, AP002387, BU848891, DA502590
      Consensus CDS
      CCDS8200.1
      UniProtKB/Swiss-Prot
      Q9UBM7
      UniProtKB/TrEMBL
      A0A024R5F7
      Related
      ENSP00000347717.3, OTTHUMP00000235752, ENST00000355527.7, OTTHUMT00000394243
      Conserved Domains (1) summary
      cl21511
      Location:93475
      PEMT; Phospholipid methyltransferase

    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_000011.10 Reference GRCh38.p12 Primary Assembly

      Range
      71434411..71448431 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011544777.2XP_011543079.1  7-dehydrocholesterol reductase isoform X1

      Conserved Domains (1) summary
      cl21511
      Location:93323
      PEMT; Phospholipid methyltransferase
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