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

Gene ID: 1717, updated on 3-Mar-2019

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
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 Apr 4 07:08:55 2018

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, ENST00000407721.6
    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, ENST00000355527.7
    Conserved Domains (1) summary
    cl21511
    Location:93475
    PEMT; Phospholipid methyltransferase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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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