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Aliases for LSS Gene

Aliases for LSS Gene

  • Lanosterol Synthase (2,3-Oxidosqualene-Lanosterol Cyclase) 2 3
  • 2,3-Epoxysqualene--Lanosterol Cyclase 3 4
  • Oxidosqualene--Lanosterol Cyclase 3 4
  • EC 5.4.99.7 4 63
  • HOSC 3 4
  • OSC 3 4
  • 2,3-Epoxysqualene-Lanosterol Cyclase 3
  • EC 5.4.99 63

External Ids for LSS Gene

Previous GeneCards Identifiers for LSS Gene

  • GC21M044116
  • GC21M046464
  • GC21M046465
  • GC21M046432
  • GC21M047608
  • GC21M032990

Summaries for LSS Gene

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 cataract 44 and acheiropody. Among its related pathways are Regulation of cholesterol biosynthesis by SREBP (SREBF) and Metabolism. GO annotations related to this gene include intramolecular transferase activity and lanosterol synthase activity.

UniProtKB/Swiss-Prot for LSS Gene

  • Catalyzes the cyclization of (S)-2,3 oxidosqualene to lanosterol, a reaction that forms the sterol nucleus.

Gene Wiki entry for LSS Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LSS Gene

Genomics for LSS Gene

Regulatory Elements for LSS Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for LSS Gene

Chromosome:
21
Start:
46,188,141 bp from pter
End:
46,228,824 bp from pter
Size:
40,684 bases
Orientation:
Minus strand

Genomic View for LSS Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LSS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LSS Gene

Proteins for LSS Gene

  • Protein details for LSS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48449-ERG7_HUMAN
    Recommended name:
    Lanosterol synthase
    Protein Accession:
    P48449
    Secondary Accessions:
    • B4DJZ9
    • D3DSN0
    • E9PEI9
    • G5E9Q9
    • Q8IYL6
    • Q9UEZ1

    Protein attributes for LSS Gene

    Size:
    732 amino acids
    Molecular mass:
    83309 Da
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for LSS Gene

    Alternative splice isoforms for LSS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LSS Gene

Proteomics data for LSS Gene at MOPED

Post-translational modifications for LSS Gene

  • Ubiquitination at Lys 61, Lys 148, Lys 318, Lys 331, Lys 340, Lys 432, Lys 439, Lys 470, Lys 506, Lys 680, and Lys 698
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for LSS Gene

Suggested Antigen Peptide Sequences for LSS Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P48449

UniProtKB/Swiss-Prot:

ERG7_HUMAN :
  • Belongs to the terpene cyclase/mutase family.
  • Contains 4 PFTB repeats.
Family:
  • Belongs to the terpene cyclase/mutase family.
Similarity:
  • Contains 4 PFTB repeats.
genes like me logo Genes that share domains with LSS: view

No data available for Gene Families for LSS Gene

Function for LSS Gene

Molecular function for LSS Gene

GENATLAS Biochemistry:
lanosterol synthase catalyzing cyclization of squalene-2,3-epoxide to lanosterol (cholesterol biosynthesis),not involved in holoprosencephaly (HPE1)
UniProtKB/Swiss-Prot CatalyticActivity:
(3S)-2,3-epoxy-2,3-dihydrosqualene = lanosterol.
UniProtKB/Swiss-Prot Function:
Catalyzes the cyclization of (S)-2,3 oxidosqualene to lanosterol, a reaction that forms the sterol nucleus.

Enzyme Numbers (IUBMB) for LSS Gene

Gene Ontology (GO) - Molecular Function for LSS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000250 lanosterol synthase activity IEA --
GO:0003824 catalytic activity --
GO:0016866 intramolecular transferase activity --
genes like me logo Genes that share ontologies with LSS: view
genes like me logo Genes that share phenotypes with LSS: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LSS

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for LSS Gene

Localization for LSS Gene

Subcellular locations from UniProtKB/Swiss-Prot for LSS Gene

Endoplasmic reticulum membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LSS Gene COMPARTMENTS Subcellular localization image for LSS gene
Compartment Confidence
endoplasmic reticulum 4
cytosol 2
extracellular 1
mitochondrion 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for LSS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005811 lipid particle IDA 14741744
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with LSS: view

Pathways & Interactions for LSS Gene

genes like me logo Genes that share pathways with LSS: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

UniProtKB/Swiss-Prot P48449-ERG7_HUMAN

  • Pathway: Terpene metabolism; lanosterol biosynthesis; lanosterol from farnesyl diphosphate: step 3/3

Gene Ontology (GO) - Biological Process for LSS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006695 cholesterol biosynthetic process TAS --
GO:0008202 steroid metabolic process TAS 7639730
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with LSS: view

No data available for SIGNOR curated interactions for LSS Gene

Drugs & Compounds for LSS Gene

(16) Drugs for LSS Gene - From: DrugBank, DGIdb, NovoSeek, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lanosterin Experimental Pharma Target 0
R048-8071 Experimental Pharma Target 0
Tetradecane Experimental Pharma Target 0
cholesterol Experimental Pharma Agonist 0
Ergosterol Experimental Pharma 0

(8) Additional Compounds for LSS Gene - From: NovoSeek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(3S)-2,3-epoxy-2,3-dihydrosqualene
(S)-2,3-Epoxysqualene
  • (S)-2,3-Epoxysqualene
  • (S)-Squalene-2,3-epoxide
  • Squalene 2,3-epoxide
  • Squalene 2,3-oxide
9029-62-3
2,3-Oxidosqualene
24(S),25-Epoxycholesterol
Cycloartenol
  • 9,19-Cyclo-9beta-lanost-24-en-3beta-ol
  • 9,19-Cycloart-24-ene, 3beta-ol
  • 9beta,19-Cyclo-24-lanosten-3beta-ol
  • 9beta,19-cyclolanost-24-en-3beta-ol
  • Artosenol
469-38-5
genes like me logo Genes that share compounds with LSS: view

Transcripts for LSS Gene

Unigene Clusters for LSS Gene

Lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase):
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LSS

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LSS Gene

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:
SP6: - - -
SP7: - - - - -
SP8:
SP9:
SP10:
SP11:

ExUns: 16 ^ 17a · 17b ^ 18a · 18b ^ 19a · 19b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: - -
SP9:
SP10:
SP11:

Relevant External Links for LSS Gene

GeneLoc Exon Structure for
LSS
ECgene alternative splicing isoforms for
LSS

Expression for LSS Gene

mRNA expression in normal human tissues for LSS Gene

Protein differential expression in normal tissues from HIPED for LSS Gene

This gene is overexpressed in Fetal Liver (9.6) and Milk (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for LSS Gene



SOURCE GeneReport for Unigene cluster for LSS Gene Hs.596543

genes like me logo Genes that share expression patterns with LSS: view

Protein tissue co-expression partners for LSS Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for LSS Gene

Orthologs for LSS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for LSS Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LSS 35
  • 85.15 (n)
  • 85.52 (a)
LSS 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LSS 35
  • 86.02 (n)
  • 86.61 (a)
LSS 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lss 35
  • 83.04 (n)
  • 85.77 (a)
Lss 16
Lss 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LSS 35
  • 99.32 (n)
  • 99.32 (a)
LSS 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lss 35
  • 82.49 (n)
  • 84.54 (a)
oppossum
(Monodelphis domestica)
Mammalia LSS 36
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LSS 36
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves LSS 35
  • 72.73 (n)
  • 75.79 (a)
LSS 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LSS 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lss 35
  • 69.19 (n)
  • 75.48 (a)
Str.15698 35
zebrafish
(Danio rerio)
Actinopterygii lss 35
  • 70.73 (n)
  • 75.75 (a)
wufj45h02 35
lss 36
  • 75 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR351W 35
  • 48.84 (n)
  • 40.71 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B10175g 35
  • 46.26 (n)
  • 38.77 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG7 35
  • 47.71 (n)
  • 43.99 (a)
ERG7 36
  • 41 (a)
OneToOne
ERG7 38
thale cress
(Arabidopsis thaliana)
eudicotyledons CAS1 35
  • 51.92 (n)
  • 49.76 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.1230 35
rice
(Oryza sativa)
Liliopsida Os.2342 35
Os02g0139700 35
  • 53.12 (n)
  • 48.41 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.9982 35
corn
(Zea mays)
Liliopsida Zm.5697 35
bread mold
(Neurospora crassa)
Ascomycetes NCU01119 35
  • 52.79 (n)
  • 43.04 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes erg7 35
  • 48.16 (n)
  • 43.33 (a)
Species with no ortholog for LSS:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • worm (Caenorhabditis elegans)

Evolution for LSS Gene

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

Paralogs for LSS Gene

No data available for Paralogs for LSS Gene

Variants for LSS Gene

Sequence variations from dbSNP and Humsavar for LSS Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type MAF
VAR_021522 -
VAR_024648 -
VAR_052057 -
VAR_052058 -
VAR_052059 -

Structural Variations from Database of Genomic Variants (DGV) for LSS Gene

Variant ID Type Subtype PubMed ID
nsv914079 CNV Loss 21882294
nsv509804 CNV Insertion 20534489
nsv470910 CNV Gain 18288195
dgv4809n71 CNV Loss 21882294
dgv4811n71 CNV Loss 21882294
nsv914116 CNV Loss 21882294
dgv4816n71 CNV Loss 21882294
nsv914132 CNV Loss 21882294
nsv914133 CNV Loss 21882294
nsv519904 CNV Loss 19592680
esv2587417 CNV Deletion 19546169
esv2338420 CNV Deletion 18987734
esv2668812 CNV Deletion 23128226
esv29868 CNV Loss 19812545
esv1986816 CNV Deletion 18987734
esv2723906 CNV Deletion 23290073
nsv3546 CNV Insertion 18451855
esv2723907 CNV Deletion 23290073
nsv914134 CNV Gain 21882294

Variation tolerance for LSS Gene

Residual Variation Intolerance Score: 19.32% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.92; 83.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LSS Gene

HapMap Linkage Disequilibrium report
LSS
Human Gene Mutation Database (HGMD)
LSS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LSS Gene

Disorders for LSS Gene

MalaCards: The human disease database

(15) MalaCards diseases for LSS Gene - From: OMIM, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cataract 44
  • ctrct44
acheiropody
  • horn-kolb syndrome
syndactyly, type iv
  • syndactyly type 4
polydactyly, preaxial type ii
  • triphalangeal thumb, type i
hypoplastic or aplastic tibia with polydactyly
  • hypoplasia or aplasia of tibia with polydactyly
- elite association
Search LSS in MalaCards View complete list of genes associated with diseases

Relevant External Links for LSS

Genetic Association Database (GAD)
LSS
Human Genome Epidemiology (HuGE) Navigator
LSS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LSS
genes like me logo Genes that share disorders with LSS: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LSS Gene

Publications for LSS Gene

  1. The human lanosterol synthase gene maps to chromosome 21q22.3. (PMID: 8655142) Young M. … Antonarakis S.E. (Hum. Genet. 1996) 2 23 67
  2. Molecular cloning of the human gene encoding lanosterol synthase from a liver cDNA library. (PMID: 7639730) Baker C.H. … Corey E.J. (Biochem. Biophys. Res. Commun. 1995) 2 23 67
  3. Protostadienol synthase from Aspergillus fumigatus: functional conversion into lanosterol synthase. (PMID: 19951700) Kimura M. … Abe I. (Biochem. Biophys. Res. Commun. 2010) 23 67
  4. Umbelliferone aminoalkyl derivatives as inhibitors of human oxidosqualene-lanosterol cyclase. (PMID: 18830877) Oliaro-Bosso S. … Balliano G. (J Enzyme Inhib Med Chem 2009) 23 67
  5. Oxidosqualene cyclase from Saccharomyces cerevisiae, Trypanosoma cruzi, Pneumocystis carinii and Arabidopsis thaliana expressed in yeast: a model for the development of novel antiparasitic agents. (PMID: 19119009) Balliano G. … Ackermann J. (Bioorg. Med. Chem. Lett. 2009) 23 67

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