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    Dhcr7 7-dehydrocholesterol reductase [ Rattus norvegicus (Norway rat) ]

    Gene ID: 64191, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Dhcr7provided by RGD
    Official Full Name
    7-dehydrocholesterol reductaseprovided by RGD
    Primary source
    RGD:621769
    See related
    Ensembl:ENSRNOG00000020776 AllianceGenome:RGD:621769
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Enables 7-dehydrocholesterol reductase activity. Involved in cholesterol biosynthetic process and regulation of cholesterol biosynthetic process. Located in intracellular membrane-bounded organelle. 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
    Biased expression in Adrenal (RPKM 460.5), Liver (RPKM 232.8) and 5 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Dhcr7 in Genome Data Viewer
    Location:
    1q42
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 1 NC_086019.1 (208444434..208460408)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 1 NC_051336.1 (199015081..199031055)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 1 NC_005100.4 (217018916..217034890)

    Chromosome 1 - NC_086019.1Genomic Context describing neighboring genes Neighboring gene MAS related GPR family member E Neighboring gene NAD synthetase 1 Neighboring gene actin-like Neighboring gene 60S ribosomal protein L21-like Neighboring gene SH3 and multiple ankyrin repeat domains 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Structure and alternative splicing of the rat 7-dehydrocholesterol reductase gene. Lee JN, et al. Biochim Biophys Acta, 2002 Jun 7. PMID 12031495
    2. Evidence for requirement of NADPH-cytochrome P450 oxidoreductase in the microsomal NADPH-sterol Delta7-reductase system. Nishino H, et al. Arch Biochem Biophys, 2000 Feb 15. PMID 10666310
    3. Cholesterol biosynthesis from lanosterol. Molecular cloning, tissue distribution, expression, chromosomal localization, and regulation of rat 7-dehydrocholesterol reductase, a Smith-Lemli-Opitz syndrome-related protein. Bae SH, et al. J Biol Chem, 1999 May 21. PMID 10329655
    4. Regulation of rat hepatic 3beta-hydroxysterol delta7-reductase: substrate specificity, competitive and non-competitive inhibition, and phosphorylation/dephosphorylation. Shefer S, et al. J Lipid Res, 1998 Dec. PMID 9831636
    5. Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome. Wassif CA, et al. Hum Mol Genet, 2001 Mar 15. PMID 11230174

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Effect of DHCR7 for the co-occurrence of hypercholesterolemia and vitamin D deficiency in type 2 diabetes: Perspective of health prevention.
      Title: Effect of DHCR7 for the co-occurrence of hypercholesterolemia and vitamin D deficiency in type 2 diabetes: Perspective of health prevention.
    2. gene structure and alternative splicing
      Title: Structure and alternative splicing of the rat 7-dehydrocholesterol reductase gene.
    Submit: New GeneRIF Correction

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Clone Names

    • MGC93039

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables 7-dehydrocholesterol reductase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 7-dehydrocholesterol reductase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables 7-dehydrocholesterol reductase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables 7-dehydrocholesterol reductase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables 7-dehydrocholesterol reductase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables NADP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within blood vessel development ISO
    Inferred from Sequence Orthology
    more info
    		  
    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 IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in cholesterol biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cholesterol biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cholesterol biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cholesterol biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cholesterol biosynthetic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    acts_upstream_of_or_within lung development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within lung epithelial cell differentiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within multicellular organism growth ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within post-embryonic development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within regulation of cell population proliferation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of cholesterol biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within sterol biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    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 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_071784.1
    XP_006230955.1
    XP_006230956.1
    XP_038945428.1
    XP_063128807.1
    XP_063128808.1
    XP_063128809.1

    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_022389.3 → NP_071784.1  7-dehydrocholesterol reductase

      See identical proteins and their annotated locations for NP_071784.1

      Status: PROVISIONAL

      Source sequence(s)
      JAXUCZ010000001
      UniProtKB/Swiss-Prot
      Q9Z2Z8
      UniProtKB/TrEMBL
      A0A8L2R4U0, A6HYE0
      Related
      ENSRNOP00000028194.2, ENSRNOT00000028195.6
      Conserved Domains (1) summary
      cl21511
      Location:89 → 471
      PEMT; Phospholipid methyltransferase

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086019.1 Reference GRCr8

      Range
      208444434..208460408
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_063272737.1 → XP_063128807.1  7-dehydrocholesterol reductase isoform X1

      UniProtKB/Swiss-Prot
      Q9Z2Z8
      UniProtKB/TrEMBL
      A6HYE0

    2. XM_006230893.5 → XP_006230955.1  7-dehydrocholesterol reductase isoform X1

      See identical proteins and their annotated locations for XP_006230955.1

      UniProtKB/Swiss-Prot
      Q9Z2Z8
      UniProtKB/TrEMBL
      A0A8L2R4U0, A6HYE0
      Related
      ENSRNOP00000071939.2
      Conserved Domains (1) summary
      cl21511
      Location:89 → 471
      PEMT; Phospholipid methyltransferase

    3. XM_039089500.2 → XP_038945428.1  7-dehydrocholesterol reductase isoform X1

      UniProtKB/Swiss-Prot
      Q9Z2Z8
      UniProtKB/TrEMBL
      A0A8L2R4U0, A6HYE0
      Conserved Domains (1) summary
      cl21511
      Location:89 → 471
      PEMT; Phospholipid methyltransferase

    4. XM_006230894.5 → XP_006230956.1  7-dehydrocholesterol reductase isoform X1

      See identical proteins and their annotated locations for XP_006230956.1

      UniProtKB/Swiss-Prot
      Q9Z2Z8
      UniProtKB/TrEMBL
      A0A8L2R4U0, A6HYE0
      Conserved Domains (1) summary
      cl21511
      Location:89 → 471
      PEMT; Phospholipid methyltransferase

    5. XM_063272739.1 → XP_063128809.1  7-dehydrocholesterol reductase isoform X1

      UniProtKB/Swiss-Prot
      Q9Z2Z8
      UniProtKB/TrEMBL
      A6HYE0

    6. XM_063272738.1 → XP_063128808.1  7-dehydrocholesterol reductase isoform X1

      UniProtKB/Swiss-Prot
      Q9Z2Z8
      UniProtKB/TrEMBL
      A6HYE0
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Z2Z8.1 GenPept UniProtKB/Swiss-Prot:Q9Z2Z8

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