Lss lanosterol synthase [Mus musculus (house mouse)] - Gene

Summary

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

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_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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)

Endonuclease-mediated (4) 1 citation
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Lss (e-PCR), detects polymorphism
- UniSTS:259104

Lss (e-PCR), detects polymorphism
- UniSTS:259632

D10Ertd116e (e-PCR), detects polymorphism
- UniSTS:167006

NoName (e-PCR)
- UniSTS:236391

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

EC 5.4.99.7

XP_006513347.1

EC 5.4.99.7

XP_030100782.1

EC 5.4.99.7

XP_036011544.1

EC 5.4.99.7

XP_036011545.1

EC 5.4.99.7

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)

NM_001428574.1 → NP_001415503.1 lanosterol synthase isoform 2

Status: REVIEWED

Source sequence(s)

AC158618
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

NR_190410.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC158618
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

NC_000076.7 Reference GRCm39 C57BL/6J

Range

76367303..76392973

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036155651.1 → XP_036011544.1 lanosterol synthase isoform X1

Conserved Domains (1) summary

TIGR01787
Location:1 → 595

squalene_cyclas; squalene/oxidosqualene cyclases
XM_006513284.4 → XP_006513347.1 lanosterol synthase isoform X2

Conserved Domains (1) summary

TIGR01787
Location:77 → 523

squalene_cyclas; squalene/oxidosqualene cyclases
XM_036155652.1 → XP_036011545.1 lanosterol synthase isoform X3

Conserved Domains (1) summary

TIGR01787
Location:1 → 507

squalene_cyclas; squalene/oxidosqualene cyclases
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