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LSS lanosterol synthase [ Homo sapiens (human) ]

Gene ID: 4047, updated on 9-Jun-2020

Summary

Official Symbol
LSSprovided by HGNC
Official Full Name
lanosterol synthaseprovided by HGNC
Primary source
HGNC:HGNC:6708
See related
Ensembl:ENSG00000160285 MIM:600909
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
OSC; APMR4; HYPT14; CTRCT44
Summary
The protein encoded by this gene 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. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2009]
Expression
Ubiquitous expression in skin (RPKM 17.0), lung (RPKM 14.7) and 25 other tissues See more
Orthologs

Genomic context

See LSS in Genome Data Viewer
Location:
21q22.3
Exon count:
23
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (46188446..46228824, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (47608360..47648738, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene formimidoyltransferase cyclodeaminase Neighboring gene FTCD antisense RNA 1 Neighboring gene spermatogenesis and centriole associated 1 like Neighboring gene small nucleolar RNA, C/D box 159 Neighboring gene Sharpr-MPRA regulatory region 3947 Neighboring gene MCM3AP antisense RNA 1 Neighboring gene minichromosome maintenance complex component 3 associated protein Neighboring gene Sharpr-MPRA regulatory region 1466 Neighboring gene ybeY metalloendoribonuclease

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
ALOPECIA-MENTAL RETARDATION SYNDROME 4
MedGen: CN272916 OMIM: 618840 GeneReviews: Not available
not available
Cataract 44
MedGen: C4225300 OMIM: 616509 GeneReviews: Not available
Compare labs
HYPOTRICHOSIS 14
MedGen: C4748930 OMIM: 618275 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2012-09-06)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2012-09-06)

ClinGen Genome Curation Page

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ25486, FLJ35015, FLJ39450, FLJ46393

Gene Ontology Provided by GOA

Function Evidence Code Pubs
beta-amyrin synthase activity IEA
Inferred from Electronic Annotation
more info
 
lanosterol synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lanosterol synthase activity IGI
Inferred from Genetic Interaction
more info
PubMed 
lanosterol synthase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
lanosterol synthase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
cholesterol biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
cholesterol biosynthetic process TAS
Traceable Author Statement
more info
 
regulation of cholesterol biosynthetic process TAS
Traceable Author Statement
more info
 
regulation of protein stability IMP
Inferred from Mutant Phenotype
more info
PubMed 
steroid biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
triterpenoid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
lipid droplet IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipid droplet IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 

General protein information

Preferred Names
lanosterol synthase
Names
2,3-epoxysqualene-lanosterol cyclase
epididymis secretory sperm binding protein
hOSC
lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)
oxidosqualene--lanosterol cyclase
NP_001001438.1
NP_001138908.1
NP_001138909.1
NP_002331.3

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_011510.1 RefSeqGene

    Range
    5001..45379
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001001438.2NP_001001438.1  lanosterol synthase isoform 1

    See identical proteins and their annotated locations for NP_001001438.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the shortest transcript. Variants 1 and 2 encode the same protein (isoform 1).
    Source sequence(s)
    AK312489, D63807, DA333499
    Consensus CDS
    CCDS13733.1
    UniProtKB/Swiss-Prot
    P48449
    UniProtKB/TrEMBL
    B2R694
    Related
    ENSP00000348762.3, ENST00000356396.8
    Conserved Domains (2) summary
    cd02892
    Location:77719
    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:76721
    squalene_cyclas; squalene/oxidosqualene cyclases
  2. NM_001145436.2NP_001138908.1  lanosterol synthase isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region and has a different 3' UTR, compared to variant 2. These differences result in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AK296313, AP001468, D63807
    Consensus CDS
    CCDS46654.1
    UniProtKB/Swiss-Prot
    P48449
    Related
    ENSP00000429133.1, ENST00000522411.5
    Conserved Domains (2) summary
    cd02892
    Location:77708
    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:76710
    squalene_cyclas; squalene/oxidosqualene cyclases
  3. NM_001145437.1NP_001138909.1  lanosterol synthase isoform 3

    See identical proteins and their annotated locations for NP_001138909.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) retains an intron segment between exons 1 and 2, compared to variant 2. This difference introduces a premature stop codon and results in the use of a downstream, in-frame start codon. The encoded protein (isoform 3) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK226141, AP001468, D63807, DA333499
    Consensus CDS
    CCDS54489.1
    UniProtKB/Swiss-Prot
    P48449
    Related
    ENSP00000409191.2, ENST00000457828.6
    Conserved Domains (2) summary
    cd02892
    Location:1639
    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:1641
    squalene_cyclas; squalene/oxidosqualene cyclases
  4. NM_002340.6NP_002331.3  lanosterol synthase isoform 1

    See identical proteins and their annotated locations for NP_002331.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 3' UTR, compared to variant 2. Variants 1 and 2 encode the same protein (isoform 1).
    Source sequence(s)
    AK312489, AP001468, D63807
    Consensus CDS
    CCDS13733.1
    UniProtKB/Swiss-Prot
    P48449
    UniProtKB/TrEMBL
    B2R694
    Related
    ENSP00000380837.2, ENST00000397728.8
    Conserved Domains (2) summary
    cd02892
    Location:77719
    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:76721
    squalene_cyclas; squalene/oxidosqualene cyclases

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

    Range
    46188446..46228824 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187626.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    49816..80959 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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