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

Gene ID: 1717, updated on 10-Dec-2024

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
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Genomic context

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See DHCR7 in Genome Data Viewer
Location:
11q13.4
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (71427287..71449043, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (71354234..71375999, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (71138333..71160089, 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 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 5167 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5166 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 H3K4me1 hESC enhancer GRCh37_chr11:71187723-71188302 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:71188303-71188882 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:71188883-71189462 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:71191463-71191988 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:71196200-71196700 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:71198988-71199758 Neighboring gene microRNA 6754 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:71211789-71212476 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:71216417-71217007 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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

  1. Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome. Nowaczyk MJ, et al. Am J Med Genet A, 2004 Mar 1. PMID 14981719
  2. A serum 25-hydroxyvitamin D concentration-associated genetic variant in DHCR7 interacts with type 2 diabetes status to influence subclinical atherosclerosis (measured by carotid intima-media thickness). Strawbridge RJ, et al. Diabetologia, 2014 Jun. PMID 24663808
  3. Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7. Cardoso ML, et al. Mol Genet Metab, 2005 Jul. PMID 15979035
  4. Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum. Moosa S, et al. Clin Genet, 2017 Sep. PMID 28369852
  5. Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS). Waye JS, et al. Hum Mutat, 2005 Jul. PMID 15954111

See all (217) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Inhibition of 7-dehydrocholesterol reductase prevents hepatic ferroptosis under an active state of sterol synthesis.
    Title: Inhibition of 7-dehydrocholesterol reductase prevents hepatic ferroptosis under an active state of sterol synthesis.
  2. DHCR7 promotes lymph node metastasis in cervical cancer through cholesterol reprogramming-mediated activation of the KANK4/PI3K/AKT axis and VEGF-C secretion.
    Title: DHCR7 promotes lymph node metastasis in cervical cancer through cholesterol reprogramming-mediated activation of the KANK4/PI3K/AKT axis and VEGF-C secretion.
  3. 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.
  4. 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.
  5. High DHCR7 Expression Predicts Poor Prognosis for Cervical Cancer.
    Title: High DHCR7 Expression Predicts Poor Prognosis for Cervical Cancer.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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?
Submit: New GeneRIF Correction See all GeneRIFs (75)

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)

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
  
enables 7-dehydrocholesterol reductase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables 7-dehydrocholesterol reductase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables NADP binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables cholesterol-5,6-oxide hydrolase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
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 IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cholesterol biosynthetic process via lathosterol TAS
Traceable Author Statement
more info
  
involved_in positive regulation of ferroptosis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
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
NP_001412036.1
NP_001412037.1
NP_001412038.1
NP_001412039.1
NP_001412040.1
NP_001412041.1
NP_001412042.1
NP_001412043.1
NP_001412045.1
NP_001412046.1
NP_001412047.1
NP_001412048.1
NP_001412049.1
NP_001412050.1

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 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:93 → 475
    PEMT; Phospholipid methyltransferase

  2. NM_001360.3 → NP_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:93 → 475
    PEMT; Phospholipid methyltransferase

  3. NM_001425107.1 → NP_001412036.1  7-dehydrocholesterol reductase isoform 2

    Status: REVIEWED

    Source sequence(s)
    AP002387
    UniProtKB/TrEMBL
    A0A804HI25, X5DNI9
    Related
    ENSP00000506866.1, ENST00000682708.1

  4. NM_001425108.1 → NP_001412037.1  7-dehydrocholesterol reductase isoform 3

    Status: REVIEWED

    Source sequence(s)
    AP002387
    UniProtKB/TrEMBL
    A0A804HJQ7, X5DNI9
    Related
    ENSP00000507607.1, ENST00000683287.1

  5. NM_001425109.1 → NP_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_001425110.1 → NP_001412039.1  7-dehydrocholesterol reductase isoform 1

    Status: REVIEWED

    Source sequence(s)
    AP002387
    UniProtKB/Swiss-Prot
    B2R6Z2, O60492, O60717, Q9UBM7
    UniProtKB/TrEMBL
    A0A024R5F7, X5DNI9
    Related
    ENSP00000435707.3, ENST00000525346.6

  7. NM_001425111.1 → NP_001412040.1  7-dehydrocholesterol reductase isoform 4

    Status: REVIEWED

    Source sequence(s)
    AP002387
    UniProtKB/TrEMBL
    X5DNI9

  8. NM_001425112.1 → NP_001412041.1  7-dehydrocholesterol reductase isoform 5

    Status: REVIEWED

    Source sequence(s)
    AP002387
    UniProtKB/TrEMBL
    A0A804HL56

  9. NM_001425113.1 → NP_001412042.1  7-dehydrocholesterol reductase isoform 6

    Status: REVIEWED

    Source sequence(s)
    AP002387
    UniProtKB/TrEMBL
    A8K0D2, X5DNI9

  10. NM_001425114.1 → NP_001412043.1  7-dehydrocholesterol reductase isoform 7

    Status: REVIEWED

    Source sequence(s)
    AP002387
    UniProtKB/TrEMBL
    A0A8I5KRR9, A8K0D2, X5DNI9
    Related
    ENSP00000510750.1, ENST00000690257.1

  11. NM_001425116.1 → NP_001412045.1  7-dehydrocholesterol reductase isoform 8

    Status: REVIEWED

    Source sequence(s)
    AP002387
    UniProtKB/TrEMBL
    A0A804HL56

  12. NM_001425117.1 → NP_001412046.1  7-dehydrocholesterol reductase isoform 9

    Status: REVIEWED

    Source sequence(s)
    AP002387
    UniProtKB/TrEMBL
    A8K0D2, E9PM00, X5DNI9
    Related
    ENSP00000435047.2, ENST00000527316.6

  13. NM_001425118.1 → NP_001412047.1  7-dehydrocholesterol reductase isoform 10

    Status: REVIEWED

    Source sequence(s)
    AP002387
    UniProtKB/TrEMBL
    X5DRD7
    Related
    ENSP00000507520.1, ENST00000682880.1

  14. NM_001425119.1 → NP_001412048.1  7-dehydrocholesterol reductase isoform 11

    Status: REVIEWED

    Source sequence(s)
    AP002387
    UniProtKB/TrEMBL
    X5DRD7

  15. NM_001425120.1 → NP_001412049.1  7-dehydrocholesterol reductase isoform 12

    Status: REVIEWED

    Source sequence(s)
    AP002387
    UniProtKB/TrEMBL
    X5DRD7

  16. NM_001425121.1 → NP_001412050.1  7-dehydrocholesterol reductase isoform 13

    Status: REVIEWED

    Source sequence(s)
    AP002387
    UniProtKB/TrEMBL
    X5DRD7

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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
    71427287..71449043 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    71354234..71375999 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UBM7.1 GenPept UniProtKB/Swiss-Prot:Q9UBM7

Gene LinkOut

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