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LSS Gene

protein-coding   GIFtS: 69
GCID: GC21M047608

Lanosterol Synthase (2,3-Oxidosqualene-Lanosterol Cyclase)

  See LSS-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, 15RNAdb, and/or 11Nature:405,311-319 and CroW21)
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Aliases
Lanosterol Synthase (2,3-Oxidosqualene-Lanosterol Cyclase)1 2     EC 5.4.99.73 8
Oxidosqualene--Lanosterol Cyclase2 3     Human Lanosterol Synthase, EC 5.4.99.711
2,3-Epoxysqualene--Lanosterol Cyclase2 3     2,3-Epoxysqualene-Lanosterol Cyclase2
OSC2 3     Lanosterol Synthase2
hOSC2 3     EC 5.4.998

External Ids:    HGNC: 67081   Entrez Gene: 40472   Ensembl: ENSG000001602857   OMIM: 6009095   UniProtKB: P484493   

Export aliases for LSS gene to outside databases

Previous GC identifers: GC21M044116 GC21M046464 GC21M046465 GC21M046432 GC21M032990


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for LSS Gene:
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)

GeneCards Summary for LSS Gene:
LSS (lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)) is a protein-coding gene. Diseases associated with LSS include dependent personality disorder, and candida glabrata. GO annotations related to this gene include lanosterol synthase activity.

UniProtKB/Swiss-Prot: ERG7_HUMAN, P48449
Function: Catalyzes the cyclization of (S)-2,3 oxidosqualene to lanosterol, a reaction that forms the sterol
nucleus

Gene Wiki entry for LSS (Lanosterol synthase) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
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RefSeq DNA sequence at NCBI GenBank:
NC_000021.8  NT_011512.12  NC_018932.2  NT_187626.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the LSS gene promoter:
         Pax-3   p53   Brachyury   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): LSS promoter sequence

   Search Chromatin IP Primers for LSS

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LSS


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q22.3   Ensembl cytogenetic band:  21q22.3   HGNC cytogenetic band: 21q22.3
Nature(405: 311-319) cytogenetic band:   21q22.3
LSS Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LSS gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21M047608:   GeneLoc Nature:405,311-319
Start:
47,608,055 bp from pter       33,114,827 bp from centromere
End:
47,648,738 bp from pter 33,155,144 bp from centromere
Size:
40,684 bases 40,318 bases
Orientation:
minus strand minus strand

Whole chromosome sequencing:
cDNA sequence: D63807
genomic clones: 21B35B20 R178H12


(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ERG7_HUMAN, P48449 (See protein sequence)
Recommended Name: Lanosterol synthase  
Size: 732 amino acids; 83309 Da
Subunit: Monomer
2 PDB 3D structures from and Proteopedia for LSS:
1W6J (3D)        1W6K (3D)    
Secondary accessions: B4DJZ9 D3DSN0 E9PEI9 G5E9Q9 Q8IYL6 Q9UEZ1
Alternative splicing: 3 isoforms:  P48449-1   P48449-2   P48449-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for LSS: NX_P48449

Explore proteomics data for LSS at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys61, Lys148, Lys318, Lys331, Lys340, Lys432, Lys439, Lys470, Lys506, Lys680,
                                 Lys698
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for LSS (P48449) (see all 14)
     GSQIWDT  VYLPMSY  LQAEDGHW  DCTAEALK 


    See LSS Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001001438.1  NP_001138908.1  NP_001138909.1  NP_002331.3  

    ENSEMBL proteins: 
     ENSP00000348762   ENSP00000380837   ENSP00000410678   ENSP00000429133   ENSP00000391368  
     ENSP00000409191  
    Reactome Protein details: P48449

    LSS Human Recombinant Protein Products:

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    Novus Biologicals LSS Protein
    Novus Biologicals LSS Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for LSS 

    LSS Antibody Products:

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    LSS Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for LSS 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR018333 Squalene_cyclase
     IPR002365 Terpene_synthase_CS
     IPR008930 Terpenoid_cyclase/PrenylTrfase
     IPR001330 Prenyltrans

    Graphical View of Domain Structure for InterPro Entry P48449

    ProtoNet protein and cluster: P48449

    2 Blocks protein domains:
    IPB001330 Prenyltransferase/squalene oxidase
    IPB002365 Terpene synthase


    UniProtKB/Swiss-Prot: ERG7_HUMAN, P48449
    Similarity: Belongs to the terpene cyclase/mutase family
    Similarity: Contains 4 PFTB repeats


    Find genes that share domains with LSS           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ERG7_HUMAN, P48449
    Function: Catalyzes the cyclization of (S)-2,3 oxidosqualene to lanosterol, a reaction that forms the sterol
    nucleus
    Catalytic activity: (3S)-2,3-epoxy-2,3-dihydrosqualene = lanosterol

         Genatlas biochemistry entry for LSS:
    lanosterol synthase catalyzing cyclization of squalene-2,3-epoxide to lanosterol (cholesterol biosynthesis),not
    involved in holoprosencephaly (HPE1)

         Enzyme Numbers (IUBMB): EC 5.4.99.71 2 EC 5.4.992

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000250lanosterol synthase activity IEA--
    GO:0003824catalytic activity ----
    GO:0016866intramolecular transferase activity ----
         
    Find genes that share ontologies with LSS           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for LSS:
     Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LSS
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for LSS

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LSS
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LSS

    miRNA
    Products:
        
    miRTarBase miRNAs that target LSS:
    hsa-mir-30a-5p (MIRT028552), hsa-mir-335-5p (MIRT018611), hsa-mir-10b-5p (MIRT047498), hsa-mir-10a-5p (MIRT047714), hsa-mir-125b-5p (MIRT045991)

    Block miRNA regulation of human, mouse, rat LSS using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate LSS:
    hsa-miR-642a
    SwitchGear 3'UTR luciferase reporter plasmidLSS 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for LSS
    Predesigned siRNA for gene silencing in human, mouse, rat LSS

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 4): LSS (NM_002340)
    Sino Biological Human cDNA Clone for LSS
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LSS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LSS

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LSS


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ERG7_HUMAN, P48449: Endoplasmic reticulum membrane; Peripheral membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    cytosol2
    nucleus2
    extracellular1
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0005811lipid particle IDA14741744

    Find genes that share ontologies with LSS           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for LSS About    
    See pathways by source

    SuperPathContained pathways About
    1superpathway of cholesterol biosynthesis
    superpathway of cholesterol biosynthesis0.85
    Steroid biosynthesis0.57
    Cholesterol biosynthesis0.85
    lanosterol biosynthesis0.00
    Cholesterol biosynthesis0.62
    cholesterol biosynthesis III (via desmosterol)0.00
    cholesterol biosynthesis II (via 24,25-dihydrolanosterol)0.59
    cholesterol biosynthesis I0.00
    2Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)0.75
    SREBP signalling0.31
    Activation of Gene Expression by SREBP (SREBF)0.75
    3Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38


    Find genes that share SuperPaths with LSS           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    Selected BioSystems Pathways for LSS (see all 7)
        Cholesterol biosynthesis
    SREBP signalling
    cholesterol biosynthesis I
    lanosterol biosynthesis
    superpathway of cholesterol biosynthesis


    2 Reactome Pathways for LSS
        Cholesterol biosynthesis
    Activation of gene expression by SREBF (SREBP)


    2 Kegg Pathways  (Kegg details for LSS):
        Steroid biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: ERG7_HUMAN, P48449
    Pathway: Terpene metabolism; lanosterol biosynthesis; lanosterol from farnesyl diphosphate: step 3/3

        Pathway & Disease-focused RT2 Profiler PCR Arrays including LSS: 

              Hepatotoxicity in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for LSS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for LSS (P484493 ENSP000003487624) via UniProtKB, MINT, STRING, and/or I2D (see all 110)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AGPAT1Q999433I2D: score=4 
    ENSG00000206324Q999433I2D: score=4 
    ENSG00000226467Q999433I2D: score=4 
    ENSG00000227642Q999433I2D: score=4 
    ENSG00000228892Q999433I2D: score=4 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006695cholesterol biosynthetic process TAS--
    GO:0008202steroid metabolic process TAS7639730
    GO:0044281small molecule metabolic process TAS--

    Find genes that share ontologies with LSS           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for LSS
      Browse compounds at ApexBio 

    Browse Tocris compounds for LSS (ERG7)

    2 HMDB Compounds for LSS    About this table
    CompoundSynonyms CAS #PubMed Ids
    (S)-2,3-Epoxysqualene(S)-2,3-Epoxysqualene (see all 4)9029-62-3--
    Lanosterin(3 beta)-Lanosta-8,24-dien-3-ol (see all 12)79-63-0--

    3 DrugBank Compounds for LSS    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Lanosterol-- 79-63-0target--17139284 17016423
    R048-8071-- 161582-11-2target--17139284 17016423
    Tetradecane-- --target--17139284 17016423

    9 Novoseek inferred chemical compound relationships for LSS gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lanosterol 96.2 66 17925399 (5), 7639730 (4), 16445886 (4), 8593458 (2) (see all 29)
    2,3-oxidosqualene 93.8 4 14766201 (1), 15525992 (1), 10783007 (1), 12666166 (1)
    24(s),25-epoxycholesterol 92.3 5 15951028 (2), 15763540 (1), 14512442 (1), 17186944 (1)
    cycloartenol 81.8 6 16218577 (2), 16445886 (2)
    squalene 80.1 11 19753490 (1), 7791529 (1), 9162756 (1), 19649469 (1) (see all 8)
    ergosterol 72 2 19753490 (1), 19649469 (1)
    sterol 65.6 9 8593458 (1), 14766201 (1), 7791529 (1), 15951028 (1) (see all 7)
    cholesterol 48.1 28 15951028 (4), 14512442 (3), 9162756 (3), 15525992 (2) (see all 12)
    steroid 32.3 4 18480904 (1), 15337753 (1), 15525992 (1)



    Find genes that share compounds with LSS           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for LSS gene (4 alternative transcripts): 
    NM_001001438.2  NM_001145436.1  NM_001145437.1  NM_002340.5  

    Unigene Cluster for LSS:

    Lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)
    Hs.596543  [show with all ESTs]
    Unigene Representative Sequence: NM_001145437
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000356396(uc002zij.3) ENST00000491729 ENST00000397728 ENST00000419093
    ENST00000474319 ENST00000522411 ENST00000484808 ENST00000464357 ENST00000450351
    ENST00000472272 ENST00000457828(uc002zil.2 uc011afv.1 uc002zik.2)

    miRNA
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    Block miRNA regulation of human, mouse, rat LSS using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate LSS:
    hsa-miR-642a
    SwitchGear 3'UTR luciferase reporter plasmidLSS 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 4): LSS (NM_002340)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LSS
    Primer
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    OriGene qPCR primer pairs and template standards for LSS
    OriGene qSTAR qPCR primer pairs in human, mouse for LSS
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat LSS
      QuantiTect SYBR Green Assays in human, mouse, rat LSS
      QuantiFast Probe-based Assays in human, mouse, rat LSS

    Additional mRNA sequence: 

    AK226141.1 AK296313.1 AK312489.1 AY927524.1 BC035638.1 D63807.1 S81221.1 X87809.1 

    24 DOTS entries:

    DT.97867743  DT.92440609  DT.87016843  DT.95224941  DT.100886300  DT.100029897  DT.91960419  DT.100886302 
    DT.121134433  DT.100886311  DT.101962318  DT.442515  DT.95256312  DT.121134338  DT.430891  DT.95370193 
    DT.121134469  DT.100016669  DT.121134345  DT.121134434  DT.121134471  DT.92440599  DT.97777135  DT.121643862 

    Selected AceView cDNA sequences (see all 311):

    BM564693 AU133253 BM928564 BQ959185 D63807 CD674488 NM_002340 BM794385 
    BE765258 AA437389 AA495836 NM_001001438 AI831305 AL079693 BQ646773 Z98506 
    BQ651541 BM836772 BX442827 BQ652543 CB152175 X87809 AA814300 BQ944522 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for LSS (see all 11)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^
    SP1:                                -           -                                         -                                                                     
    SP2:                                                                                                                                                  -         
    SP3:              -     -                       -                                                                                                               
    SP4:                                -           -           -                                                                                                   
    SP5:                                                                                                                                                            

    ExUns: 16 ^ 17a · 17b ^ 18a · 18b ^ 19a · 19b
    SP1:                                          
    SP2:                                          
    SP3:                                          
    SP4:                                          
    SP5:                                          


    ECgene alternative splicing isoforms for LSS

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    LSS expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTCAGACTGT
    LSS Expression
    About this image


    LSS expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Midbrain tegmentum
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Lung (Respiratory System)
             Trachea
    LSS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LSS Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.596543
        Pathway & Disease-focused RT2 Profiler PCR Arrays including LSS: 
              Hepatotoxicity in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for LSS gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lss1 , 5 lanosterol synthase1, 5 83.04(n)1
    85.77(a)1
      10 (39.10 cM)5
    169871  NM_146006.11  NP_666118.11 
     765315885 
    chicken
    (Gallus gallus)
    Aves LSS1 lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) 72.73(n)
    75.79(a)
      424037  NM_001006514.2  NP_001006514.2 
    lizard
    (Anolis carolinensis)
    Reptilia LSS6
    lanosterol synthase (2,3-oxidosqualene-lanosterol ...
    71(a)
    1 ↔ 1
    1(123059468-123092250)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.156982 Transcribed sequence with moderate similarity to protein more 74.72(n)    BX743629.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufj45h022 Transcribed sequence with weak similarity to protein more 76.76(n)    57058828 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ERG7(YHR072W)4
    ERG71
    Lanosterol synthase, an essential enzyme that catalyzes more4
    ERG71
    47.71(n)1
    43.99(a)1
      8(239098-241293)4
    8564701, 4  NP_011939.21  NP_011939.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CAS11 CAS1 51.92(n)
    49.76(a)
      815275  NM_126681.2  NP_178722.1 
    rice
    (Oryza sativa)
    Liliopsida Os.23422 Oryza sativa putative cycloartenol synthase (CAS1) more 76.33(n)    AF169966.1 


    ENSEMBL Gene Tree for LSS (if available)
    TreeFam Gene Tree for LSS (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for LSS (see all 929)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1421921371,2
    C--47607908(+) CCTTAA/GCACAT 1 -- ds50010--------
    rs1507699831,2
    --47607982(+) CGCTCA/GCTTGT 1 -- ds50010--------
    rs1392197171,2
    --47608038(+) CAGTTA/GCAAAG 1 -- ds50010--------
    rs1452852031,2
    --47608058(+) CACCCA/GTTAAA 1 -- ds50010--------
    rs1140333731,2
    C,F--47608207(+) GGTACC/TGTTCC 1 -- ds50012Minor allele frequency- T:0.04WA NA 238
    rs1476340181,2
    --47608208(+) GTACCA/GTTCCT 1 -- ds50010--------
    rs1152264951,2
    F--47608212(+) CGTTCC/TTTGTC 1 -- ds50011Minor allele frequency- T:0.03WA 118
    rs1157239711,2
    F--47608217(+) CTTGTC/TCTACC 1 -- ds50011Minor allele frequency- T:0.02WA 118
    rs1423512071,2
    --47608233(+) TGTTGA/GTATTA 1 -- ds50010--------
    rs72836281,2
    C,F--47608289(+) ACCTAA/GTATGA 1 -- ds50015Minor allele frequency- G:0.10NA WA 126

    HapMap Linkage Disequilibrium report for LSS (47608055 - 47648738 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for LSS (see all 19):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2668812CNV Deletion23128226
    esv1986816CNV Deletion18987734
    esv2723906CNV Deletion23290073
    esv2723907CNV Deletion23290073
    esv2338420CNV Deletion18987734
    esv2587417CNV Deletion19546169
    nsv3546CNV Insertion18451855
    nsv509804CNV Insertion20534489
    dgv4811n71CNV Loss21882294
    nsv519904CNV Loss19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing LSS
    DNA2.0 Custom Variant and Variant Library Synthesis for LSS

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600909    OMIM disorders: --

    4 diseases for LSS:    
    About MalaCards
    dependent personality disorder    candida glabrata    spondylolisthesis    spinal stenosis

    3 diseases from the University of Copenhagen DISEASES database for LSS:
    Spinal stenosis     Spondylolisthesis     Dependent personality disorder

    Find genes that share disorders with LSS           About GenesLikeMe

    1 Novoseek inferred disease relationship for LSS gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    atherosclerosis 0 2 15951028 (1)

    Genetic Association Database (GAD): LSS
    Human Genome Epidemiology (HuGE) Navigator: LSS (9 documents)

    Export disorders for LSS gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for LSS gene, integrated from 10 sources (see all 78):
    (articles sorted by number of sources associating them with LSS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of the human gene encoding lanosterol synthase from a liver cDNA library. (PubMed id 7639730)1, 2, 3, 9 Baker C.H.... Corey E.J. (Biochem. Biophys. Res. Commun. 1995)
    2. The human lanosterol synthase gene maps to chromosome 21q22.3. (PubMed id 8655142)1, 2, 3, 9 Young M.... Antonarakis S.E. (Hum. Genet. 1996)
    3. Insight into steroid scaffold formation from the structure of human oxidosqualene cyclase. (PubMed id 15525992)1, 2, 9 Thoma R.... Ruf A. (Nature 2004)
    4. The monotopic membrane protein human oxidosqualene cyclase is active as monomer. (PubMed id 14766201)1, 2, 9 Ruf A.... Thoma R. (Biochem. Biophys. Res. Commun. 2004)
    5. Molecular cloning of cDNA encoding human lanosterol synthase. (PubMed id 8593458)1, 2, 9 Sung C.K.... Ebizuka Y. (Biol. Pharm. Bull. 1995)
    6. Structure of the human lanosterol synthase gene and its analysis as a candidate for holoprosencephaly. (PubMed id 10598817)1, 2, 9 Roessler E.... Antonarakis S.E. (Hum. Genet. 1999)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    8. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    9. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)1, 4 Lu Y....Boer J.M. (J. Lipid Res. 2008)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4047 HGNC: 6708 AceView: LSS Ensembl:ENSG00000160285 euGenes: HUgn4047
    ECgene: LSS Kegg: 4047 H-InvDB: LSS

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for LSS Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for LSS gene:
    Search GeneIP for patents involving LSS

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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