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    Lss lanosterol synthase [ Mus musculus (house mouse) ]

    Gene ID: 16987, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Lssprovided by MGI
    Official Full Name
    lanosterol synthaseprovided by MGI
    Primary source
    MGI:MGI:1336155
    See related
    Ensembl:ENSMUSG00000033105 AllianceGenome:MGI:1336155
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Osc; D10Ertd116e; 2810025N20Rik
    Summary
    This gene encodes an enzyme that catalyzes the conversion of (S)-2,3 oxidosqualene to lanosterol. The encoded protein is a member of the terpene cyclase/mutase family and catalyzes the first step in the biosynthesis of cholesterol, steroid hormones, and vitamin D. [provided by RefSeq, Feb 2015]
    Expression
    Ubiquitous expression in liver E18 (RPKM 29.4), liver E14.5 (RPKM 13.5) and 27 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Lss in Genome Data Viewer
    Location:
    10 C1; 10 39.1 cM
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (76367303..76392973)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (76531565..76557139)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 2610028H24 gene Neighboring gene STARR-seq mESC enhancer starr_27181 Neighboring gene ybeY metallopeptidase Neighboring gene STARR-seq mESC enhancer starr_27182 Neighboring gene minichromosome maintenance complex component 3 associated protein Neighboring gene STARR-positive B cell enhancer ABC_E6874 Neighboring gene RIKEN cDNA 4930483K19 gene Neighboring gene spermatogenesis and centriole associated 1 like Neighboring gene predicted gene 15343 Neighboring gene formiminotransferase cyclodeaminase

    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. Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice. Wada Y, et al. PLoS Genet, 2020 Feb. PMID 32101538, Free PMC Article
    2. Plasma cholesterol-lowering and transient liver dysfunction in mice lacking squalene synthase in the liver. Nagashima S, et al. J Lipid Res, 2015 May. PMID 25755092, Free PMC Article
    3. Defect of LSS Disrupts Lens Development in Cataractogenesis. Zhao M, et al. Front Cell Dev Biol, 2021. PMID 34926465, Free PMC Article
    4. Suppression of 2,3-oxidosqualene cyclase by high fat diet contributes to liver X receptor-alpha-mediated improvement of hepatic lipid profile. Dang H, et al. J Biol Chem, 2009 Mar 6. PMID 19119143, Free PMC Article
    5. Normalization of Hepatic Homeostasis in the Npc1(nmf164) Mouse Model of Niemann-Pick Type C Disease Treated with the Histone Deacetylase Inhibitor Vorinostat. Munkacsi AB, et al. J Biol Chem, 2017 Mar 17. PMID 28031458, Free PMC Article

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Study identified two patients with novel biallelic LSS mutations who exhibited congenital hypotrichosis and midline anomalies but did not have cataracts. Epidermis-specific Lss knockout mice showed neonatal lethality due to dehydration, indicating that LSS could be involved in skin barrier integrity. Knockout of Lss in the epidermis caused hypotrichosis in adult mice. Lens-specific Lss knockout mice had cataracts.
      Title: Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice.
    2. liver-specific ablation of squalene synthase inhibits hepatic cholesterol biosynthesis and induces hypolipidemia without increasing significant mortality.
      Title: Plasma cholesterol-lowering and transient liver dysfunction in mice lacking squalene synthase in the liver.
    3. Suppression of 2,3-oxidosqualene cyclase by high fat diet contributes to liver X receptor-alpha-mediated improvement of hepatic lipid profile.
      Title: Suppression of 2,3-oxidosqualene cyclase by high fat diet contributes to liver X receptor-alpha-mediated improvement of hepatic lipid profile.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    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

    Clone Names

    • MGC27893

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables lanosterol synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables lanosterol synthase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables lanosterol synthase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    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
    		  
    involved_in regulation of protein stability IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of protein stability ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in steroid biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in steroid biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in sterol metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in triterpenoid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in lipid droplet IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lipid droplet IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in lipid droplet ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    lanosterol synthase
    Names
    2,3-epoxysqualene--lanosterol cyclase
    oxidosqualene--lanosterol cyclase
    NP_666118.1
    XP_006513347.1
    XP_030100782.1
    XP_036011544.1
    XP_036011545.1

    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_001428574.1 → NP_001415503.1  lanosterol synthase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC158618

    2. NM_146006.2 → NP_666118.1  lanosterol synthase isoform 1

      See identical proteins and their annotated locations for NP_666118.1

      Status: REVIEWED

      Source sequence(s)
      AK014742, AK031271, AK078023, AK141216, AK147680, BY474863, CJ128932
      Consensus CDS
      CCDS23948.1
      UniProtKB/Swiss-Prot
      Q8BLN5, Q8BVJ4, Q8K307
      Related
      ENSMUSP00000046856.7, ENSMUST00000048678.7
      Conserved Domains (2) summary
      cd02892
      Location:78 → 720
      SQCY_1; Squalene cyclase (SQCY) domain subgroup 1; found in class II terpene cyclases that have an alpha 6 - alpha 6 barrel fold. Squalene cyclase (SQCY) and 2,3-oxidosqualene cyclase (OSQCY) are integral membrane proteins that catalyze a cationic cyclization ...
      TIGR01787
      Location:77 → 722
      squalene_cyclas; squalene/oxidosqualene cyclases

    RNA

    1. NR_190410.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC158618

    2. NR_190411.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC158618

    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_000076.7 Reference GRCm39 C57BL/6J

      Range
      76367303..76392973
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036155651.1 → XP_036011544.1  lanosterol synthase isoform X1

      Conserved Domains (1) summary
      TIGR01787
      Location:1 → 595
      squalene_cyclas; squalene/oxidosqualene cyclases

    2. XM_006513284.4 → XP_006513347.1  lanosterol synthase isoform X2

      Conserved Domains (1) summary
      TIGR01787
      Location:77 → 523
      squalene_cyclas; squalene/oxidosqualene cyclases

    3. XM_036155652.1 → XP_036011545.1  lanosterol synthase isoform X3

      Conserved Domains (1) summary
      TIGR01787
      Location:1 → 507
      squalene_cyclas; squalene/oxidosqualene cyclases

    4. XM_030244922.2 → XP_030100782.1  lanosterol synthase isoform X3

      Related
      ENSMUST00000160671.8
      Conserved Domains (1) summary
      TIGR01787
      Location:1 → 507
      squalene_cyclas; squalene/oxidosqualene cyclases

    RNA

    1. XR_004936110.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BLN5.2 GenPept UniProtKB/Swiss-Prot:Q8BLN5

    Gene LinkOut

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