Lss lanosterol synthase [Rattus norvegicus (Norway rat)] - Gene

Summary

Symbol: Lssprovided by RGD
Full Name: lanosterol synthaseprovided by RGD
Primary source: RGD:620955
See related: Ensembl:ENSRNOG00000054549 AllianceGenome:RGD:620955
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
Summary: Enables lanosterol synthase activity. Involved in cholesterol biosynthetic process. Located in intracellular membrane-bounded organelle. Human ortholog(s) of this gene implicated in alopecia-mental retardation syndrome 4; cataract; cataract 44; and hypotrichosis 14. Orthologous to human LSS (lanosterol synthase). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in Liver (RPKM 129.6), Brain (RPKM 84.3) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 20p12

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	20	NC_086038.1 (12090641..12118230, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	20	NC_051355.1 (12091138..12118858, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	20	NC_005119.4 (12844522..12870474, complement)

Chromosome 20 - NC_086038.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Lanosterol Synthase Prevents EMT During Lens Epithelial Fibrosis Via Regulating SREBP1.
Title: Lanosterol Synthase Prevents EMT During Lens Epithelial Fibrosis Via Regulating SREBP1.
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.
These observations suggest an involvement of PCSK9 in hepatic LDL receptor protein degradation and perhaps, in increasing the rate of LDL receptor cycling resulting in lower serum cholesterol levels in response to cholesterol biosynthesis inhibitors.
Title: Inhibition of squalene synthase upregulates PCSK9 expression in rat liver.
Data suggest that cholesterol insufficiency due to mutation in lanosterol synthase may underlie the deficient proliferation of lens epithelial cells, which may eventually lead to cataractogenesis in Shumiya cataract rats.
Title: Lanosterol synthase mutations cause cholesterol deficiency-associated cataracts in the Shumiya cataract rat.
The hypomorphic Lss(S) and Fdft1(S) alleles are not specific to the SCR strain, but are widely prevalent in several other laboratory rat strains.
Title: Functional polymorphisms of the Lss and Fdft1 genes in laboratory rats.

Submit: New GeneRIF Correction

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables intramolecular transferase activity	IEA Inferred from Electronic Annotation more info
enables lanosterol synthase activity	IBA Inferred from Biological aspect of Ancestor more info
enables lanosterol synthase activity	IDA Inferred from Direct Assay more info	PubMed
enables lanosterol synthase activity	IEA Inferred from Electronic Annotation more info
enables lanosterol synthase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables lanosterol synthase activity	ISO Inferred from Sequence Orthology 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	IDA Inferred from Direct Assay more info	PubMed
involved_in cholesterol biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in cholesterol biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
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 sterol metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in triterpenoid biosynthetic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
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; 2,3-oxidosqualene: lanosterol cyclase; OSC; lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase); oxidosqualene--lanosterol cyclase

NP_112311.2

EC 5.4.99.7

XP_038955050.1

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_031049.2 → NP_112311.2 lanosterol synthase

Status: PROVISIONAL

Source sequence(s)

JAXUCZ010000020

UniProtKB/Swiss-Prot

P48450, Q62811

UniProtKB/TrEMBL

A0A0G2JVC8, A6JKC8

Related

ENSRNOP00000069432.1, ENSRNOT00000078412.2

Conserved Domains (1) summary

TIGR01787
Location:77 → 722

squalene_cyclas; squalene/oxidosqualene cyclases

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

NC_086038.1 Reference GRCr8

Range

12090641..12118230 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_039099122.2 → XP_038955050.1 lanosterol synthase isoform X1

Conserved Domains (1) summary

TIGR01787
Location:20 → 556

squalene_cyclas; squalene/oxidosqualene cyclases