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

    Gene ID: 1717, updated on 21-Mar-2023

    Summary

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    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
    mouse all
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    Genomic context

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    See DHCR7 in Genome Data Viewer
    Location:
    11q13.4
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (71434411..71448393, complement)
    RS_2023_03 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 actin, aortic smooth muscle-like Neighboring gene actin epsilon 1, pseudogene Neighboring gene NAD synthetase 1 Neighboring gene microRNA 6754 Neighboring gene S100A11 pseudogene 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Integrated multi-dimensional analysis highlights DHCR7 mutations involving in cholesterol biosynthesis and contributing therapy of gastric cancer. Chen Y, et al. J Exp Clin Cancer Res, 2023 Jan 30. PMID 36710342, Free PMC Article
    2. High DHCR7 Expression Predicts Poor Prognosis for Cervical Cancer. Zou J, et al. Comput Math Methods Med, 2022. PMID 36164611, Free PMC Article
    3. [Clinical and genetic analysis of a Chinese pedigree affected with Smith-Lemli-Opitz syndrome]. Gao C, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2020 Nov 10. PMID 33179238
    4. Occurrence of c.976 G>T (p.Val326Leu) and c.452 G>A (p.Trp151Ter) variants in DHCR7 gene in population of polish women with recurrent miscarriage. Chrzanowska-Steglińska M, et al. Eur J Obstet Gynecol Reprod Biol, 2020 Sep. PMID 32629226
    5. Smith-Lemli-Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant? Daum H, et al. Eur J Hum Genet, 2020 Jul. PMID 32055014, Free PMC Article

    See all (191) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Zika virus non-structural protein 4B interacts with DHCR7 to facilitate viral infection.
      Title: Zika virus non-structural protein 4B interacts with DHCR7 to facilitate viral infection.
    2. Integrated multi-dimensional analysis highlights DHCR7 mutations involving in cholesterol biosynthesis and contributing therapy of gastric cancer.
      Title: Integrated multi-dimensional analysis highlights DHCR7 mutations involving in cholesterol biosynthesis and contributing therapy of gastric cancer.
    3. High DHCR7 Expression Predicts Poor Prognosis for Cervical Cancer.
      Title: High DHCR7 Expression Predicts Poor Prognosis for Cervical Cancer.
    4. Genetic variants of vitamin D metabolism-related DHCR7/NADSYN1 locus and CYP2R1 gene are associated with clinical features of Parkinson's disease.
      Title: Genetic variants of vitamin D metabolism-related DHCR7/NADSYN1 locus and CYP2R1 gene are associated with clinical features of Parkinson's disease.
    5. Association of Polymorphisms in Vitamin D-Metabolizing Enzymes DHCR7 and CYP2R1 with Cancer Susceptibility: A Systematic Review and Meta-Analysis.
      Title: Association of Polymorphisms in Vitamin D-Metabolizing Enzymes DHCR7 and CYP2R1 with Cancer Susceptibility: A Systematic Review and Meta-Analysis.
    6. Vitamin D pathway gene polymorphisms, vitamin D level, and cytokines in children with type 1 diabetes.
      Title: Vitamin D pathway gene polymorphisms, vitamin D level, and cytokines in children with type 1 diabetes.
    7. Occurrence of c.976 G>T (p.Val326Leu) and c.452 G>A (p.Trp151Ter) variants in DHCR7 gene in population of polish women with recurrent miscarriage.
      Title: Occurrence of c.976 G>T (p.Val326Leu) and c.452 G>A (p.Trp151Ter) variants in DHCR7 gene in population of polish women with recurrent miscarriage.
    8. Smith-Lemli-Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant?
      Title: Smith-Lemli-Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant?
    9. Vitamin D Pathway Genetic Variation and Type 1 Diabetes: A Case-Control Association Study.
      Title: Vitamin D Pathway Genetic Variation and Type 1 Diabetes: A Case-Control Association Study.
    10. Genetic Variation in Cytochrome P450 2R1 and Vitamin D Binding Protein Genes are associated with Vitamin D Deficiency in Adolescents.
      Title: Genetic Variation in Cytochrome P450 2R1 and Vitamin D Binding Protein Genes are associated with Vitamin D Deficiency in Adolescents.
    Submit: New GeneRIF Correction See all GeneRIFs (73)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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
    		 PubMed 
    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 
    enables sterol delta7 reductase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in brassinosteroid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		 PubMed 
    involved_in cholesterol biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		 PubMed 
    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
    		  
    involved_in regulation of cholesterol biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane HDA PubMed 
    located_in nuclear outer membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    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)

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    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_001163817.2 → NP_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
      O60717, Q9UBM7
      UniProtKB/TrEMBL
      A0A024R5F7
      Related
      ENSP00000384739.2, ENST00000407721.6
      Conserved Domains (1) summary
      cl21511
      Location:93 → 475
      PEMT; Phospholipid methyltransferase

    2. NM_001360.3 → NP_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
      O60717, Q9UBM7
      UniProtKB/TrEMBL
      A0A024R5F7
      Related
      ENSP00000347717.4, ENST00000355527.8
      Conserved Domains (1) summary
      cl21511
      Location:93 → 475
      PEMT; Phospholipid methyltransferase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

    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_011544777.3 → XP_011543079.1  7-dehydrocholesterol reductase isoform X1

      Conserved Domains (1) summary
      cl21511
      Location:93 → 323
      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_054367890.1 → XP_054223865.1  7-dehydrocholesterol reductase isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UBM7.1 GenPept UniProtKB/Swiss-Prot:Q9UBM7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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