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Sc5d sterol-C5-desaturase [ Mus musculus (house mouse) ]

Gene ID: 235293, updated on 2-Nov-2024

Summary

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Official Symbol
Sc5dprovided by MGI
Official Full Name
sterol-C5-desaturaseprovided by MGI
Primary source
MGI:MGI:1353611
See related
Ensembl:ENSMUSG00000032018 AllianceGenome:MGI:1353611
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
Also known as
Sc5dl; A830037K02; A830073K23Rik
Summary
Predicted to enable C-5 sterol desaturase activity and delta7-sterol 5(6)-desaturase activity. Predicted to be involved in cholesterol biosynthetic process via lathosterol and negative regulation of ferroptosis. Predicted to be active in endoplasmic reticulum membrane. Is expressed in central nervous system; ganglia; gut; and liver lobe. Orthologous to human SC5D (sterol-C5-desaturase). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in liver adult (RPKM 158.9), liver E18 (RPKM 37.8) and 25 other tissues See more
Orthologs
human all
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Genomic context

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See Sc5d in Genome Data Viewer
Location:
9 A5.1; 9 23.57 cM
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (42162888..42175607, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (42251592..42264300, complement)

Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 4930546K05 gene Neighboring gene STARR-seq mESC enhancer starr_23898 Neighboring gene predicted gene, 36390 Neighboring gene predicted gene, 40515 Neighboring gene STARR-positive B cell enhancer ABC_E3825 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:42072586-42072769 Neighboring gene predicted gene 10690 Neighboring gene predicted gene, 36435

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. Loss of Sc5d results in micrognathia due to a failure in osteoblast differentiation. Iwaya C, et al. J Adv Res, 2024 Nov. PMID 38086515, Free PMC Article
  2. Attenuation of UVR-induced vitamin D(3) synthesis in a mouse model deleted for keratinocyte lathosterol 5-desaturase. Makarova AM, et al. J Steroid Biochem Mol Biol, 2017 Jul. PMID 28330720
  3. Abnormal sterols in cholesterol-deficiency diseases cause secretory granule malformation and decreased membrane curvature. Gondré-Lewis MC, et al. J Cell Sci, 2006 May 1. PMID 16636072
  4. Quantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiency. Jiang XS, et al. Mol Cell Proteomics, 2010 Jul. PMID 20305089, Free PMC Article
  5. cDNA cloning of the mammalian sterol C5-desaturase and the expression in yeast mutant. Nishi S, et al. Biochim Biophys Acta, 2000 Jan 31. PMID 10786622

See all (35) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Loss of Sc5d results in micrognathia due to a failure in osteoblast differentiation.
    Title: Loss of Sc5d results in micrognathia due to a failure in osteoblast differentiation.
  2. Data, including data from studies in heterozygotic transgenic/knockout mice, suggest that Sc5d plays essential role in ultraviolet radiation-induced vitamin D3 synthesis in keratinocytes/skin. Homozygotic deletion of Sc5d is lethal in utero.
    Title: Attenuation of UVR-induced vitamin D(3) synthesis in a mouse model deleted for keratinocyte lathosterol 5-desaturase.
  3. 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.
  4. There were reduced nuclear levels of the lipogenic transcription factor sterol regulatory element binding protein-1 in MCD-fed mice, but no consistent reduction in fatty acid synthesis genes (acetyl-CoA carboxylase and fatty acid synthase).
    Title: Hepatic free fatty acids accumulate in experimental steatohepatitis: role of adaptive pathways.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Chemically induced (ENU) (1) 
  • Endonuclease-mediated (1) 
  • Spontaneous (1) 
  • Targeted (3)  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 C-5 sterol desaturase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables C-5 sterol desaturase activity IEA
Inferred from Electronic Annotation
more info
  
enables C-5 sterol desaturase activity ISO
Inferred from Sequence Orthology
more info
  
enables delta7-sterol 5(6)-desaturase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
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 ISO
Inferred from Sequence Orthology
more info
  
involved_in cholesterol biosynthetic process via lathosterol ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of ferroptosis ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
is_active_in endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
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 (fungal ERG3, delta-5-desaturase) homolog
NP_766357.1
XP_006510316.1

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_172769.2 → NP_766357.1  lathosterol oxidase

    See identical proteins and their annotated locations for NP_766357.1

    Status: VALIDATED

    Source sequence(s)
    AK077670, BY144795
    Consensus CDS
    CCDS23086.1
    UniProtKB/Swiss-Prot
    O88822, Q8BGI0
    UniProtKB/TrEMBL
    Q8R1S3
    Related
    ENSMUSP00000057354.8, ENSMUST00000052725.15
    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_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_000075.7 Reference GRCm39 C57BL/6J

    Range
    42162888..42175607 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006510253.3 → XP_006510316.1  lathosterol oxidase isoform X1

    See identical proteins and their annotated locations for XP_006510316.1

    UniProtKB/Swiss-Prot
    O88822, Q8BGI0
    UniProtKB/TrEMBL
    Q8R1S3
    Related
    ENSMUSP00000130438.2, ENSMUST00000169609.2
    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
O88822.2 GenPept UniProtKB/Swiss-Prot:O88822

Gene LinkOut

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