U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Dhcr7 7-dehydrocholesterol reductase [ Mus musculus (house mouse) ]

Gene ID: 13360, updated on 21-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
Dhcr7provided by MGI
Official Full Name
7-dehydrocholesterol reductaseprovided by MGI
Primary source
MGI:MGI:1298378
See related
Ensembl:ENSMUSG00000058454 AllianceGenome:MGI:1298378
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary
Enables 7-dehydrocholesterol reductase activity. Acts upstream of or within several processes, including blood vessel development; lung development; and sterol biosynthetic process. Predicted to be located in endoplasmic reticulum and nuclear outer membrane. Predicted to be integral component of endoplasmic reticulum membrane. Is expressed in adrenal gland; genitourinary system; and neural retina. Used to study Smith-Lemli-Opitz syndrome. Human ortholog(s) of this gene implicated in Smith-Lemli-Opitz syndrome. Orthologous to human DHCR7 (7-dehydrocholesterol reductase). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in adrenal adult (RPKM 302.7), liver adult (RPKM 72.3) and 18 other tissues See more
Orthologs
human all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
7 88.33 cM; 7 F5
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (143376827..143402147)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (143823167..143848410)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene MAS-related GPR, member E Neighboring gene NAD synthetase 1 Neighboring gene STARR-positive B cell enhancer ABC_E1750 Neighboring gene STARR-positive B cell enhancer ABC_E2257 Neighboring gene STARR-positive B cell enhancer ABC_E3763 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:151023918-151024190 Neighboring gene STARR-seq mESC enhancer starr_20537 Neighboring gene actin, epsilon 1 Neighboring gene microRNA 6404

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Sterol and oxysterol synthases near the ciliary base activate the Hedgehog pathway. Findakly S, et al. J Cell Biol, 2021 Jan 4. PMID 33284321, Free PMC Article
  2. Oxidative stress, serotonergic changes and decreased ultrasonic vocalizations in a mouse model of Smith-Lemli-Opitz syndrome. Sharif NF, et al. Genes Brain Behav, 2017 Jul. PMID 28220990, Free PMC Article
  3. A highly sensitive method for analysis of 7-dehydrocholesterol for the study of Smith-Lemli-Opitz syndrome. Liu W, et al. J Lipid Res, 2014 Feb. PMID 24259532, Free PMC Article
  4. Behavioral and serotonergic response changes in the Dhcr7-HET mouse model of Smith-Lemli-Opitz syndrome. Korade Z, et al. Pharmacol Biochem Behav, 2013 May. PMID 23541496
  5. Metabolism of oxysterols derived from nonenzymatic oxidation of 7-dehydrocholesterol in cells. Xu L, et al. J Lipid Res, 2013 Apr. PMID 23381570, Free PMC Article

See all (64) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Sterol and oxysterol synthases near the ciliary base activate the Hedgehog pathway.
    Title: Sterol and oxysterol synthases near the ciliary base activate the Hedgehog pathway.
  2. Dhcr7 heterozygous mice made fewer ultrasonic vocalizations. Increases of 7-DHC and expression of the serotonin transporter were observed in the compound mutant mice.
    Title: Oxidative stress, serotonergic changes and decreased ultrasonic vocalizations in a mouse model of Smith-Lemli-Opitz syndrome.
  3. Studied the effect of 7-dehydrocholesterol reductase (Dhcr7) and identified signal pathways involved in regulation of embryonic palatogenesis. Expression changes of Dhcr7, Sonic Hedgehog (Shh), and bone morphogenetic protein-2 (Bmp2) were measured by RT-PCR and WB after Dhcr7 gene silencing and the addition of exogenous cholesterol.
    Title: Dhcr7 Regulates Palatal Shelf Fusion through Regulation of Shh and Bmp2 Expression.
  4. significant increases in Col1a1, serine/threonine-protein kinase 1, Ctnnb1, CSRNP1, Ddit4, Cyp2e1, and Krit1 expressions and great decreases inreceptor D2, Neu1, and Dhcr7 expressions following long-term exposure to TiO2 NPs
    Title: Neurotoxicity and gene-expressed profile in brain-injured mice caused by exposure to titanium dioxide nanoparticles.
  5. data indicate an underlying dysfunction of the 5-HT2A receptors in Dhcr7-HET mice that warrants further investigation to establish how this may relate to behavioral disturbances in human patients carrying Dhcr7 mutations
    Title: Behavioral and serotonergic response changes in the Dhcr7-HET mouse model of Smith-Lemli-Opitz syndrome.
  6. conclude that cytochrome P450 reductase is not involved in 7-dehydrocholesterol reductase activity
    Title: 7-Dehydrocholesterol reductase activity is independent of cytochrome P450 reductase.
  7. Data suggest that although cholesterol synthesis is impaired in both Dhcr7 mutant and Sc5d(-/-) embryonic brain, synthesis of nonsterol isoprenoids may be increased and thus contribute to Smith-Lemli-Opitz syndrome and lathosterolosis pathology.
    Title: Quantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiency.
  8. Steroid production and excretion by the pregnant mouse, particularly in relation to pregnancies with fetuses deficient in Delta7-sterol reductase (Dhcr7), the enzyme associated with Smith-Lemli-Opitz syndrome
    Title: Steroid production and excretion by the pregnant mouse, particularly in relation to pregnancies with fetuses deficient in Delta7-sterol reductase (Dhcr7), the enzyme associated with Smith-Lemli-Opitz syndrome.
  9. Data show that in vitro down regulation of NRIF expression decreased the mRNA for two main cholesterogenic enzymes, 3-hydroxy-3-methylglutaryl-coenzyme A reductase and 7-dehydrocholesterol reductase.
    Title: NRIF is a regulator of neuronal cholesterol biosynthesis genes.
  10. down-regulation of Dhcr7 altered expression of multiple molecules that play critical roles in intracellular signaling or vesicular transport or are inserted into membrane rafts, and down-regulated several critical genes involved in lipid biosynthesis
    Title: Molecular consequences of altered neuronal cholesterol biosynthesis.
Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

Go to the top of the page Help

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (5)  1 citation
  • Endonuclease-mediated (2) 

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
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 ISO
Inferred from Sequence Orthology
more info
  
enables oxidoreductase activity IEA
Inferred from Electronic Annotation
more info
  
enables oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within blood vessel development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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 ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within cholesterol metabolic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within lipid metabolic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within lung development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within lung epithelial cell differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within multicellular organism growth IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within post-embryonic development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within regulation of cell population proliferation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of cholesterol biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within steroid biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within steroid metabolic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within sterol biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
  
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in nuclear outer membrane ISO
Inferred from Sequence Orthology
more info
  

General protein information

Go to the top of the page Help
Preferred Names
7-dehydrocholesterol reductase
Names
7-DHC reductase
sterol Delta(7)-reductase
NP_001369427.1
NP_001369428.1
NP_001369429.1
NP_001369430.1
NP_001369432.1
NP_001399246.1
NP_001399247.1
NP_001399248.1
NP_001399249.1
NP_001399250.1
NP_001399251.1
NP_031882.1
XP_006508539.2
XP_030097936.1
XP_036008526.1
XP_036008529.1
XP_036008530.1
XP_036008531.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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.

mRNA and Protein(s)

  1. NM_001382498.2 → NP_001369427.1  7-dehydrocholesterol reductase isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC133502
    UniProtKB/Swiss-Prot
    O88455
    UniProtKB/TrEMBL
    Q3UIQ5, Q4FJX5
    Conserved Domains (1) summary
    cl21511
    Location:89 → 471
    PEMT; Phospholipid methyltransferase

  2. NM_001382499.1 → NP_001369428.1  7-dehydrocholesterol reductase isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC133502
    Conserved Domains (1) summary
    cl21511
    Location:73 → 336
    PEMT; Phospholipid methyltransferase

  3. NM_001382500.1 → NP_001369429.1  7-dehydrocholesterol reductase isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC133502
    Conserved Domains (1) summary
    cl21511
    Location:17 → 280
    PEMT; Phospholipid methyltransferase

  4. NM_001382501.2 → NP_001369430.1  7-dehydrocholesterol reductase isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC133502
    Conserved Domains (1) summary
    cl21511
    Location:17 → 373
    PEMT; Phospholipid methyltransferase

  5. NM_001382503.1 → NP_001369432.1  7-dehydrocholesterol reductase isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC133502
    UniProtKB/Swiss-Prot
    O88455
    UniProtKB/TrEMBL
    Q3UIQ5, Q4FJX5
    Related
    ENSMUSP00000121782.2, ENSMUST00000141916.8
    Conserved Domains (1) summary
    cl21511
    Location:89 → 471
    PEMT; Phospholipid methyltransferase

  6. NM_001412317.1 → NP_001399246.1  7-dehydrocholesterol reductase isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC133502
    UniProtKB/Swiss-Prot
    O88455

  7. NM_001412318.1 → NP_001399247.1  7-dehydrocholesterol reductase isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC133502
    UniProtKB/Swiss-Prot
    O88455

  8. NM_001412319.1 → NP_001399248.1  7-dehydrocholesterol reductase isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC133502
    UniProtKB/Swiss-Prot
    O88455
    Related
    ENSMUSP00000117659.2, ENSMUST00000124340.8

  9. NM_001412320.1 → NP_001399249.1  7-dehydrocholesterol reductase isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC133502

  10. NM_001412321.1 → NP_001399250.1  7-dehydrocholesterol reductase isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC133502

  11. NM_001412322.1 → NP_001399251.1  7-dehydrocholesterol reductase isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC133502

  12. NM_007856.2 → NP_031882.1  7-dehydrocholesterol reductase isoform 1

    See identical proteins and their annotated locations for NP_031882.1

    Status: VALIDATED

    Source sequence(s)
    AC133502, AF057368
    Consensus CDS
    CCDS22048.1
    UniProtKB/Swiss-Prot
    O88455
    UniProtKB/TrEMBL
    Q3UIQ5, Q4FJX5
    Related
    ENSMUSP00000073541.6, ENSMUST00000073878.12
    Conserved Domains (1) summary
    cl21511
    Location:89 → 471
    PEMT; Phospholipid methyltransferase

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    143376827..143402147
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036152633.1 → XP_036008526.1  7-dehydrocholesterol reductase isoform X3

    UniProtKB/Swiss-Prot
    O88455
    UniProtKB/TrEMBL
    Q3UIQ5, Q4FJX5
    Conserved Domains (1) summary
    cl21511
    Location:89 → 471
    PEMT; Phospholipid methyltransferase

  2. XM_036152637.1 → XP_036008530.1  7-dehydrocholesterol reductase isoform X4

    Conserved Domains (1) summary
    cl21511
    Location:17 → 373
    PEMT; Phospholipid methyltransferase

  3. XM_036152638.1 → XP_036008531.1  7-dehydrocholesterol reductase isoform X4

    Conserved Domains (1) summary
    cl21511
    Location:17 → 373
    PEMT; Phospholipid methyltransferase

  4. XM_006508476.5 → XP_006508539.2  7-dehydrocholesterol reductase isoform X1

    UniProtKB/TrEMBL
    A0A140LIT2, Q3UIQ5, Q4FJX5
    Related
    ENSMUSP00000146947.2, ENSMUST00000207143.2
    Conserved Domains (1) summary
    cl21511
    Location:92 → 474
    PEMT; Phospholipid methyltransferase

  5. XM_030242076.2 → XP_030097936.1  7-dehydrocholesterol reductase isoform X4

    Conserved Domains (1) summary
    cl21511
    Location:17 → 373
    PEMT; Phospholipid methyltransferase

  6. XM_036152636.1 → XP_036008529.1  7-dehydrocholesterol reductase isoform X3

    UniProtKB/Swiss-Prot
    O88455
    UniProtKB/TrEMBL
    Q3UIQ5, Q4FJX5
    Conserved Domains (1) summary
    cl21511
    Location:89 → 471
    PEMT; Phospholipid methyltransferase

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001382502.1: Suppressed sequence

    Description
    NM_001382502.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O88455.1 GenPept UniProtKB/Swiss-Prot:O88455

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous