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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
  • Lanosterol Synthase 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 laurin-sandrow syndrome and polydactyly, preaxial type ii. Among its related pathways are Regulation of Cholesterol Biosynthesis by SREBP (SREBF) and Metabolism. GO annotations related to this gene include 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

Genomic Location for LSS Gene

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 Lys61, Lys148, Lys318, Lys331, Lys340, Lys432, Lys439, Lys470, Lys506, Lys680, and Lys698
  • Modification sites at PhosphoSitePlus

Other Protein References for LSS Gene

Domains 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 :
  • P48449
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

Phenotypes for LSS Gene

GenomeRNAi human phenotypes for LSS:
genes like me logo Genes that share phenotypes with LSS: view

No data available for Animal Models , Transcription Factor Targeting 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 5
cytosol 2
nucleus 2
extracellular 1
mitochondrion 1
peroxisome 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 for LSS Gene

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

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:0008152 metabolic process --
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

Compounds for LSS Gene

(2) HMDB Compounds for LSS Gene

Compound Synonyms Cas Number PubMed IDs
(S)-2,3-Epoxysqualene
  • (S)-2,3-Epoxysqualene
9029-62-3
Lanosterin
  • (3 beta)-Lanosta-8,24-dien-3-ol
79-63-0

(3) Drugbank Compounds for LSS Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Lanosterol
79-63-0 target
R048-8071
161582-11-2 target
Tetradecane
target

(9) Novoseek inferred chemical compound relationships for LSS Gene

Compound -log(P) Hits PubMed IDs
lanosterol 96.2 49
2,3-oxidosqualene 93.8 4
24(s),25-epoxycholesterol 92.3 5
cycloartenol 81.8 4
squalene 80.1 8
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:

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with LSS: view

No data available for 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
chimpanzee
(Pan troglodytes)
Mammalia LSS 35
  • 99.32 (n)
  • 99.32 (a)
LSS 36
  • 99 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia LSS 36
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LSS 36
  • 57 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lss 35
  • 82.49 (n)
  • 84.54 (a)
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)
lss 36
  • 75 (a)
OneToOne
wufj45h02 35
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR351W 35
  • 48.84 (n)
  • 40.71 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG7 35
  • 47.71 (n)
  • 43.99 (a)
ERG7 36
  • 41 (a)
OneToOne
ERG7 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B10175g 35
  • 46.26 (n)
  • 38.77 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.1230 35
thale cress
(Arabidopsis thaliana)
eudicotyledons CAS1 35
  • 51.92 (n)
  • 49.76 (a)
corn
(Zea mays)
Liliopsida Zm.5697 35
rice
(Oryza sativa)
Liliopsida Os.2342 35
Os02g0139700 35
  • 53.12 (n)
  • 48.41 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.9982 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
rs885768 -- 46,207,664(-) TGTGG(C/T)GGGGA intron-variant
rs914248 -- 46,214,658(+) CCGGG(A/G)ATTGC intron-variant
rs999689 -- 46,226,869(+) GTCAG(C/T)GTAGT intron-variant
rs999690 -- 46,227,163(+) GCCCC(A/G)AGGAA intron-variant
rs2001809 -- 46,211,285(+) GCACA(C/T)CCAGC intron-variant

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

Relevant External Links for LSS Gene

HapMap Linkage Disequilibrium report
LSS

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

Disorders for LSS Gene

(3) University of Copenhagen DISEASES for LSS Gene

(1) Novoseek inferred disease relationships for LSS Gene

Disease -log(P) Hits PubMed IDs
atherosclerosis 0 1

Relevant External Links for LSS

Genetic Association Database (GAD)
LSS
Human Genome Epidemiology (HuGE) Navigator
LSS
genes like me logo Genes that share disorders with LSS: view

No data available for UniProtKB/Swiss-Prot 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 3 4 23
  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 3 4 23
  3. Structure of the human lanosterol synthase gene and its analysis as a candidate for holoprosencephaly. (PMID: 10598817) Roessler E. … Antonarakis S.E. (Hum. Genet. 1999) 3 4 23
  4. Insight into steroid scaffold formation from the structure of human oxidosqualene cyclase. (PMID: 15525992) Thoma R. … Ruf A. (Nature 2004) 3 4 23
  5. The monotopic membrane protein human oxidosqualene cyclase is active as monomer. (PMID: 14766201) Ruf A. … Thoma R. (Biochem. Biophys. Res. Commun. 2004) 3 4 23

Products for LSS Gene

Sources for LSS Gene

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