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    LSS lanosterol synthase [ Homo sapiens (human) ]

    Gene ID: 4047, updated on 28-Oct-2024

    Summary

    Official Symbol
    LSSprovided by HGNC
    Official Full Name
    lanosterol synthaseprovided by HGNC
    Primary source
    HGNC:HGNC:6708
    See related
    Ensembl:ENSG00000160285 MIM:600909; AllianceGenome:HGNC:6708
    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
    NEW
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    Genomic context

    See LSS in Genome Data Viewer
    Location:
    21q22.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (46188446..46228774, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (44570708..44611332, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (47608360..47648688, complement)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47571745-47572448 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47572449-47573154 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47573155-47573858 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47573859-47574562 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47574563-47575266 Neighboring gene formimidoyltransferase cyclodeaminase Neighboring gene FTCD antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:47590104-47590604 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:47590605-47591105 Neighboring gene spermatogenesis and centriole associated 1 like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47600015-47600618 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47602435-47603038 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47603039-47603642 Neighboring gene uncharacterized LOC124905045 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47611464-47612078 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47612079-47612691 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47614165-47614666 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47614667-47615166 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:47621241-47621767 Neighboring gene small nucleolar RNA, C/D box 159 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47638552-47639452 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47640419-47640920 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18598 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13413 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13414 Neighboring gene Sharpr-MPRA regulatory region 3947 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13416 Neighboring gene MCM3AP antisense RNA 1 Neighboring gene minichromosome maintenance complex component 3 associated protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18599 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13417 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13418 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:47709143-47709725 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:47709726-47710307 Neighboring gene Sharpr-MPRA regulatory region 4411 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:47715289-47715862 Neighboring gene Sharpr-MPRA regulatory region 1466 Neighboring gene ybeY metalloendoribonuclease Neighboring gene chromosome 21 open reading frame 58

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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-intellectual disability syndrome 4
    MedGen: C5394241 OMIM: 618840 GeneReviews: Not available
    Compare labs
    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

    Clone Names

    • FLJ25486, FLJ35015, FLJ39450, FLJ46393

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables lanosterol synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables lanosterol synthase activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    enables lanosterol synthase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables lanosterol synthase activity TAS
    Traceable Author Statement
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cholesterol biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cholesterol biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cholesterol biosynthetic process TAS
    Traceable Author Statement
    more info
     
    involved_in regulation of protein stability IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in steroid biosynthetic 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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in lipid droplet IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in lipid droplet IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in 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)

    NEW Try the new Transcript table

    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
      5051..45379
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001001438.3NP_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
      Consensus CDS
      CCDS13733.1
      UniProtKB/Swiss-Prot
      B4DJZ9, D3DSN0, E9PEI9, G5E9Q9, P48449, Q8IYL6, Q9UEZ1
      UniProtKB/TrEMBL
      A0A384MTQ5
      Related
      ENSP00000348762.3, ENST00000356396.8
      Conserved Domains (1) summary
      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/TrEMBL
      A0A384MTQ5
      Related
      ENSP00000429133.1, ENST00000522411.5
      Conserved Domains (1) summary
      TIGR01787
      Location:76710
      squalene_cyclas; squalene/oxidosqualene cyclases
    3. NM_001145437.2NP_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/TrEMBL
      A0A384MTQ5
      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
      B4DJZ9, D3DSN0, E9PEI9, G5E9Q9, P48449, Q8IYL6, Q9UEZ1
      UniProtKB/TrEMBL
      A0A384MTQ5
      Related
      ENSP00000380837.2, ENST00000397728.8
      Conserved Domains (1) summary
      TIGR01787
      Location:76721
      squalene_cyclas; squalene/oxidosqualene cyclases

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      46188446..46228774 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187626.1 Reference GRCh38.p14 ALT_REF_LOCI_1

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      44570708..44611332 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)