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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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