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

    Gene ID: 13360, updated on 2-Nov-2024

    Summary

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    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 epithelial cell differentiation; and sterol biosynthetic process. Predicted to be located in endoplasmic reticulum and nuclear outer membrane. Predicted to be active in 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 Behcet's disease and Smith-Lemli-Opitz syndrome. Orthologous to human DHCR7 (7-dehydrocholesterol reductase). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in adrenal adult (RPKM 302.7), liver adult (RPKM 72.3) and 18 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Dhcr7 in Genome Data Viewer
    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data 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

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    Related articles in PubMed

    1. 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
    2. 7-Dehydrocholesterol reductase activity is independent of cytochrome P450 reductase. Zou L, et al. J Steroid Biochem Mol Biol, 2011 Nov. PMID 21762780, Free PMC Article
    3. Hair and skin sterols in normal mice and those with deficient dehydrosterol reductase (DHCR7), the enzyme associated with Smith-Lemli-Opitz syndrome. Serra M, et al. J Steroid Biochem Mol Biol, 2010 Nov. PMID 20804844, Free PMC Article
    4. Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transfer. Matabosch X, et al. J Steroid Biochem Mol Biol, 2010 Nov. PMID 20800683, Free PMC Article
    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 (65) 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

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    Alleles

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

    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 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 NADP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within blood vessel development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cholesterol biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cholesterol biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cholesterol biosynthetic process ISO
    Inferred from Sequence Orthology
    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 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 endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nuclear outer membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    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)

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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.

    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.

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