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

    Gene ID: 1717, updated on 25-Jan-2024

    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; AllianceGenome:HGNC:2860
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DHCR7 in Genome Data Viewer
    Location:
    11q13.4
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (71434411..71448393, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (71361366..71375349, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (71145457..71159439, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902706 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:71009949-71011148 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:71012233-71012890 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5165 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:71054609-71055108 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3706 Neighboring gene actin, aortic smooth muscle-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:71100061-71100562 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:71100563-71101062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:71107588-71108289 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:71110671-71111514 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:71113580-71114080 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3707 Neighboring gene actin epsilon 1, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:71159471-71159972 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5166 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5167 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3709 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:71164405-71164906 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:71164907-71165406 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:71169226-71169406 Neighboring gene DHCR7 divergent transcript Neighboring gene NAD synthetase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:71183373-71184280 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:71184281-71185187 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

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

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 7-dehydrocholesterol reductase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables 7-dehydrocholesterol reductase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables 7-dehydrocholesterol reductase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables NADP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in brassinosteroid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cholesterol biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cholesterol biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cholesterol biosynthetic process via desmosterol TAS
    Traceable Author Statement
    more info
     
    involved_in cholesterol biosynthetic process via lathosterol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    7-dehydrocholesterol reductase
    Names
    7-DHC reductase
    delta-7-dehydrocholesterol reductase
    delta7-sterol reductase
    putative sterol reductase SR-2
    sterol delta-7-reductase
    sterol reductase SR-2
    NP_001157289.1
    NP_001351.2
    XP_011543079.1
    XP_054223865.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001163817.2NP_001157289.1  7-dehydrocholesterol reductase isoform 1

      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
      B2R6Z2, O60492, O60717, Q9UBM7
      UniProtKB/TrEMBL
      A0A024R5F7, X5DNI9
      Related
      ENSP00000384739.2, ENST00000407721.6
      Conserved Domains (1) summary
      cl21511
      Location:93475
      PEMT; Phospholipid methyltransferase
    2. NM_001360.3NP_001351.2  7-dehydrocholesterol reductase isoform 1

      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
      B2R6Z2, O60492, O60717, Q9UBM7
      UniProtKB/TrEMBL
      A0A024R5F7, X5DNI9
      Related
      ENSP00000347717.4, ENST00000355527.8
      Conserved Domains (1) summary
      cl21511
      Location:93475
      PEMT; Phospholipid methyltransferase
    3. NM_001425107.1NP_001412036.1  7-dehydrocholesterol reductase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AP002387
      UniProtKB/TrEMBL
      A0A804HI25, X5DNI9
    4. NM_001425108.1NP_001412037.1  7-dehydrocholesterol reductase isoform 3

      Status: REVIEWED

      Source sequence(s)
      AP002387
      UniProtKB/TrEMBL
      A0A804HJQ7, X5DNI9
    5. NM_001425109.1NP_001412038.1  7-dehydrocholesterol reductase isoform 1

      Status: REVIEWED

      Source sequence(s)
      AP002387
      UniProtKB/Swiss-Prot
      B2R6Z2, O60492, O60717, Q9UBM7
      UniProtKB/TrEMBL
      A0A024R5F7, X5DNI9
    6. NM_001425110.1NP_001412039.1  7-dehydrocholesterol reductase isoform 1

      Status: REVIEWED

      Source sequence(s)
      AP002387
      UniProtKB/Swiss-Prot
      B2R6Z2, O60492, O60717, Q9UBM7
      UniProtKB/TrEMBL
      A0A024R5F7, X5DNI9
    7. NM_001425111.1NP_001412040.1  7-dehydrocholesterol reductase isoform 4

      Status: REVIEWED

      Source sequence(s)
      AP002387
      UniProtKB/TrEMBL
      X5DNI9
    8. NM_001425112.1NP_001412041.1  7-dehydrocholesterol reductase isoform 5

      Status: REVIEWED

      Source sequence(s)
      AP002387
      UniProtKB/TrEMBL
      A0A804HL56
    9. NM_001425113.1NP_001412042.1  7-dehydrocholesterol reductase isoform 6

      Status: REVIEWED

      Source sequence(s)
      AP002387
      UniProtKB/TrEMBL
      A8K0D2, X5DNI9
    10. NM_001425114.1NP_001412043.1  7-dehydrocholesterol reductase isoform 7

      Status: REVIEWED

      Source sequence(s)
      AP002387
      UniProtKB/TrEMBL
      A0A8I5KRR9, A8K0D2, X5DNI9
    11. NM_001425116.1NP_001412045.1  7-dehydrocholesterol reductase isoform 8

      Status: REVIEWED

      Source sequence(s)
      AP002387
      UniProtKB/TrEMBL
      A0A804HL56
    12. NM_001425117.1NP_001412046.1  7-dehydrocholesterol reductase isoform 9

      Status: REVIEWED

      Source sequence(s)
      AP002387
      UniProtKB/TrEMBL
      A8K0D2, E9PM00, X5DNI9
    13. NM_001425118.1NP_001412047.1  7-dehydrocholesterol reductase isoform 10

      Status: REVIEWED

      Source sequence(s)
      AP002387
      UniProtKB/TrEMBL
      X5DRD7
    14. NM_001425119.1NP_001412048.1  7-dehydrocholesterol reductase isoform 11

      Status: REVIEWED

      Source sequence(s)
      AP002387
      UniProtKB/TrEMBL
      X5DRD7
    15. NM_001425120.1NP_001412049.1  7-dehydrocholesterol reductase isoform 12

      Status: REVIEWED

      Source sequence(s)
      AP002387
      UniProtKB/TrEMBL
      X5DRD7
    16. NM_001425121.1NP_001412050.1  7-dehydrocholesterol reductase isoform 13

      Status: REVIEWED

      Source sequence(s)
      AP002387
      UniProtKB/TrEMBL
      X5DRD7

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      71434411..71448393 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011544777.3XP_011543079.1  7-dehydrocholesterol reductase isoform X1

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      71361366..71375349 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367890.1XP_054223865.1  7-dehydrocholesterol reductase isoform X1