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    Sc5d sterol-C5-desaturase [ Rattus norvegicus (Norway rat) ]

    Gene ID: 114100, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Sc5dprovided by RGD
    Official Full Name
    sterol-C5-desaturaseprovided by RGD
    Primary source
    RGD:620775
    See related
    Ensembl:ENSRNOG00000065944 AllianceGenome:RGD:620775
    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
    Also known as
    Sc5dl
    Summary
    Enables C-5 sterol desaturase activity. Involved in cholesterol biosynthetic process via lathosterol. Located in intracellular membrane-bounded organelle. Orthologous to human SC5D (sterol-C5-desaturase). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in Liver (RPKM 1112.9), Brain (RPKM 325.5) and 7 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Sc5d in Genome Data Viewer
    Location:
    8q22
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 8 NC_086026.1 (51526669..51538277, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 8 NC_051343.1 (42629649..42641257, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 8 NC_005107.4 (46525406..46537014, complement)

    Chromosome 8 - NC_086026.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC120094128 Neighboring gene uncharacterized LOC108351685 Neighboring gene small nucleolar RNA SNORA17 Neighboring gene tectorin alpha

    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. Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase. Brunetti-Pierri N, et al. Am J Hum Genet, 2002 Oct. PMID 12189593, Free PMC Article
    2. Molecular cloning and structural analysis of human sterol C5 desaturase. Sugawara T, et al. Biochim Biophys Acta, 2001 Oct 31. PMID 11731337
    3. Properties and kinetics of membrane-bound enzymes when both the enzyme and substrate are components of the same microsomal membrane. Studies on lathosterol 5-desaturase. Takakuwa Y, et al. J Biol Chem, 1994 Nov 11. PMID 7961720
    4. Adding a purple corn extract in rats supplemented with chia oil decreases gene expression of SREBP-1c and retains Δ5 and Δ6 hepatic desaturase activity, unmodified the hepatic lipid profile. Reyna Gallegos S, et al. Prostaglandins Leukot Essent Fatty Acids, 2018 May. PMID 29735017
    5. Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency. Krakowiak PA, et al. Hum Mol Genet, 2003 Jul 1. PMID 12812989

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The effect of dietary plant extracts and vegetable oils on hepatic SREBP-1c, Delta5 and Delta6 desaturases has been reported.
      Title: Adding a purple corn extract in rats supplemented with chia oil decreases gene expression of SREBP-1c and retains Δ5 and Δ6 hepatic desaturase activity, unmodified the hepatic lipid profile.
    2. testicular distribution of Delta5- and Delta6-desaturase and stearoyl-CoA desaturase 1 and 2 shows that all four desaturases seem to be localized in the Sertoli cells, with far lower expression in germ cells
      Title: Expression and regulation of delta5-desaturase, delta6-desaturase, stearoyl-coenzyme A (CoA) desaturase 1, and stearoyl-CoA desaturase 2 in rat testis.
    Submit: New GeneRIF Correction

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Clone Names

    • MGC93101

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables C-5 sterol desaturase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables C-5 sterol desaturase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables C-5 sterol desaturase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables delta7-sterol 5(6)-desaturase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables iron ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cholesterol biosynthetic process via lathosterol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cholesterol biosynthetic process via lathosterol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in fatty acid metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    lathosterol oxidase
    Names
    C-5 sterol desaturase
    delta(7)-sterol 5-desaturase
    delta(7)-sterol C5(6)-desaturase
    lathosterol 5-desaturase
    sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like
    sterol-C5-desaturase (fungal ERG3, delta-5-desaturase) homolog
    sterol-C5-desaturase (fungal ERG3, delta-5-desaturase)-like
    NP_446094.1
    XP_017450895.1

    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_053642.2 → NP_446094.1  lathosterol oxidase

      See identical proteins and their annotated locations for NP_446094.1

      Status: PROVISIONAL

      Source sequence(s)
      BC081704
      UniProtKB/Swiss-Prot
      Q9EQS5
      UniProtKB/TrEMBL
      A6J3S8
      Related
      ENSRNOP00000092291.1, ENSRNOT00000106582.1
      Conserved Domains (1) summary
      COG3000
      Location:40 → 257
      ERG3; Sterol desaturase/sphingolipid hydroxylase, fatty acid hydroxylase superfamily [Lipid transport and metabolism]

    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_086026.1 Reference GRCr8

      Range
      51526669..51538277 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017595406.3 → XP_017450895.1  lathosterol oxidase isoform X1

      UniProtKB/Swiss-Prot
      Q9EQS5
      UniProtKB/TrEMBL
      A6J3S8
      Conserved Domains (1) summary
      COG3000
      Location:40 → 257
      ERG3; Sterol desaturase/sphingolipid hydroxylase, fatty acid hydroxylase superfamily [Lipid transport and metabolism]
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9EQS5.1 GenPept UniProtKB/Swiss-Prot:Q9EQS5

    Gene LinkOut

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

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