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Aliases for LSS Gene

Aliases for LSS Gene

  • Lanosterol Synthase 2 3 3 5
  • Lanosterol Synthase (2,3-Oxidosqualene-Lanosterol Cyclase) 2 3
  • Oxidosqualene--Lanosterol Cyclase 3 4
  • HOSC 3 4
  • OSC 3 4
  • 2,3-Epoxysqualene--Lanosterol Cyclase 4
  • 2,3-Epoxysqualene-Lanosterol Cyclase 3
  • Oxidosqualene-Lanosterol Cyclase 2
  • EC 5.4.99.7 4
  • CTRCT44 3

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) is a Protein Coding gene. Diseases associated with LSS include Cataract 44 and Holoprosencephaly 1. Among its related pathways are Regulation of cholesterol biosynthesis by SREBP (SREBF) and Terpenoid backbone biosynthesis. Gene Ontology (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. Through the production of lanosterol may regulate lens protein aggregation and increase transparency.

Tocris Summary for LSS Gene

Gene Wiki entry for LSS Gene

Additional gene information for LSS Gene

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

Genomics for LSS Gene

GeneHancer (GH) Regulatory Elements for LSS Gene

Promoters and enhancers for LSS Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH21J046226 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 656.5 +0.4 430 4.9 HDGF PKNOX1 CLOCK MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 MCM3AP-AS1 LSS MCM3AP YBEY SPATC1L ENSG00000228137 COL6A1 PIR60990
GH21J046319 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12.3 -94.5 -94505 6.7 CLOCK DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC ZNF610 PCNT C21orf58 ENSG00000228137 MCM3AP MCM3AP-AS1 ENSG00000227438 DIP2A SPATC1L YBEY COL6A1
GH21J046632 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 9.9 -406.4 -406392 4.5 HDGF PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B PRMT2 ENSG00000228137 MCM3AP-AS1 MCM3AP ENSG00000227438 DIP2A COL6A1 S100B COL6A2 ENSG00000228235
GH21J046317 Promoter/Enhancer 1.4 EPDnew ENCODE dbSUPER 12.3 -89.6 -89568 0.9 SIX4 USF1 SIN3A YBX1 BMI1 ZIC2 GLIS2 POLR2A RFX1 SP3 C21orf58 SPATC1L LSS MCM3AP-AS1 ENSG00000223901 ENSG00000228404 GC21P046294 GC21P046292
GH21J046182 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 6.7 +44.7 44742 4.1 HDGF PKNOX1 ATF1 ARNT ARID4B SIN3A ZBTB7B TCF12 POLR2B ZNF766 SPATC1L ENSG00000228404 MCM3AP YBEY MCM3AP-AS1 COL6A2 LOC105372842 ENSG00000228137 FTCD LSS
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LSS on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LSS gene promoter:
  • p53
  • Pax-3
  • Brachyury

Genomic Locations for LSS Gene

Genomic Locations for LSS Gene
chr21:46,188,141-46,228,824
(GRCh38/hg38)
Size:
40,684 bases
Orientation:
Minus strand
chr21:47,608,055-47,648,738
(GRCh37/hg19)
Size:
40,684 bases
Orientation:
Minus strand

Genomic View for LSS Gene

Genes around LSS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LSS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for LSS Gene

  • Ubiquitination at isoforms=2, 3698, isoforms=2, 3680, posLast=506506, posLast=470470, posLast=439439, isoforms=2, 3432, posLast=340340, isoforms=2, 3331, posLast=318318, isoforms=2, 3148, and posLast=6161
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for LSS Gene

Domains & Families for LSS Gene

Gene Families for LSS Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

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.
Family:
  • Belongs to the terpene cyclase/mutase family.
genes like me logo Genes that share domains with LSS: view

Function for LSS Gene

Molecular function for LSS Gene

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

Enzyme Numbers (IUBMB) for LSS Gene

Phenotypes From GWAS Catalog for LSS Gene

Gene Ontology (GO) - Molecular Function for LSS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000250 lanosterol synthase activity TAS --
GO:0016853 isomerase activity IEA --
GO:0016866 intramolecular transferase activity IEA --
genes like me logo Genes that share ontologies with LSS: view
genes like me logo Genes that share phenotypes with LSS: view

Human Phenotype Ontology for LSS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LSS Gene

MGI Knock Outs for LSS:
  • Lss Lss<tm1b(KOMP)Wtsi>

Animal Model Products

Clone Products

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LSS gene
Compartment Confidence
endoplasmic reticulum 4
cytosol 3
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for LSS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005811 lipid droplet IDA 14741744
GO:0016020 membrane HDA,IEA 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

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:0006629 lipid metabolic process IEA --
GO:0006694 steroid biosynthetic process IMP 26200341
GO:0006695 cholesterol biosynthetic process TAS,IMP --
GO:0031647 regulation of protein stability IMP 26200341
GO:0045540 regulation of cholesterol biosynthetic 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, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Lanosterin Experimental Pharma Target 0
R048-8071 Experimental Pharma Target 0
COMPOUND 1 [CID 44270471] Pharma 0
COMPOUND 1 [PMID: 22533316] Pharma 0
COMPOUND 10 [PMID: 22533316] Pharma 0

(7) Additional Compounds for LSS Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(3S)-2,3-epoxy-2,3-dihydrosqualene
  • (S)-Squalene-2,3-epoxide
  • Squalene 2,3-epoxide
  • Squalene 2,3-oxide
(S)-2,3-Epoxysqualene
  • (S)-Squalene-2,3-epoxide
  • Squalene 2,3-epoxide
  • Squalene 2,3-oxide
9029-62-3
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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for LSS Gene



Protein tissue co-expression partners for LSS Gene

NURSA nuclear receptor signaling pathways regulating expression of LSS Gene:

LSS

SOURCE GeneReport for Unigene cluster for LSS Gene:

Hs.596543

Evidence on tissue expression from TISSUES for LSS Gene

  • Nervous system(5)
  • Eye(4.4)
  • Liver(4.4)
  • Lung(3.1)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LSS Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with LSS: view

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
chimpanzee
(Pan troglodytes)
Mammalia LSS 34 33
  • 99.32 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LSS 34 33
  • 86.02 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LSS 34 33
  • 85.15 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Lss 16 34 33
  • 83.04 (n)
rat
(Rattus norvegicus)
Mammalia Lss 33
  • 82.49 (n)
oppossum
(Monodelphis domestica)
Mammalia LSS 34
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LSS 34
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves LSS 34 33
  • 72.73 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LSS 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lss 33
  • 69.19 (n)
Str.15698 33
zebrafish
(Danio rerio)
Actinopterygii lss 34 33
  • 70.73 (n)
OneToOne
wufj45h02 33
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR351W 33
  • 48.84 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG7 36 34 33
  • 47.71 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B10175g 33
  • 46.26 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons CAS1 33
  • 51.92 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.1230 33
rice
(Oryza sativa)
Liliopsida Os02g0139700 33
  • 53.12 (n)
Os.2342 33
corn
(Zea mays)
Liliopsida Zm.5697 33
wheat
(Triticum aestivum)
Liliopsida Ta.9982 33
bread mold
(Neurospora crassa)
Ascomycetes NCU01119 33
  • 52.79 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes erg7 33
  • 48.16 (n)
Species where no ortholog for LSS was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for LSS: view image

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 Variation AA Info Type
rs561449819 pathogenic, Cataract 44, Cataract 44 (CTRCT44) [MIM:616509] 46,195,731(-) C/G/T coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant
rs864622780 pathogenic, Cataract 44, Cataract 44 (CTRCT44) [MIM:616509] 46,195,752(-) A/G/T coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant
rs1000034682 -- 46,208,642(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000067711 -- 46,212,885(-) G/A intron_variant
rs1000139810 -- 46,213,941(-) G/A intron_variant

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

Variant ID Type Subtype PubMed ID
esv1986816 CNV deletion 18987734
esv2338420 CNV deletion 18987734
esv2587417 CNV deletion 19546169
esv2668812 CNV deletion 23128226
esv2723906 CNV deletion 23290073
esv2723907 CNV deletion 23290073
esv29868 CNV loss 19812545
esv3647164 CNV loss 21293372
nsv1060978 CNV gain 25217958
nsv1061087 CNV loss 25217958
nsv1062031 CNV gain 25217958
nsv1072611 CNV deletion 25765185
nsv1148428 CNV duplication 26484159
nsv3546 CNV insertion 18451855
nsv470910 CNV gain 18288195
nsv509804 CNV insertion 20534489
nsv519904 CNV loss 19592680

Variation tolerance for LSS Gene

Residual Variation Intolerance Score: 19.3% 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)

Additional Variant Information for LSS Gene

Human Gene Mutation Database (HGMD)
LSS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LSS

SNP Genotyping and Copy Number Assay Products

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

Disorders for LSS Gene

MalaCards: The human disease database

(5) MalaCards diseases for LSS Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cataract 44
  • ctrct44
holoprosencephaly 1
  • hpe1
holoprosencephaly
  • holoprosencephaly sequence
candida glabrata
cataract
  • cataracts
- elite association - COSMIC cancer census association via MalaCards
Search LSS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ERG7_HUMAN
  • Cataract 44 (CTRCT44) [MIM:616509]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. {ECO:0000269 PubMed:26200341}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for LSS

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

No data available for Genatlas for LSS Gene

Publications for LSS Gene

  1. The human lanosterol synthase gene maps to chromosome 21q22.3. (PMID: 8655142) Young M … Antonarakis SE (Human genetics 1996) 2 3 4 22 58
  2. Molecular cloning of the human gene encoding lanosterol synthase from a liver cDNA library. (PMID: 7639730) Baker CH … Corey EJ (Biochemical and biophysical research communications 1995) 2 3 4 22 58
  3. The monotopic membrane protein human oxidosqualene cyclase is active as monomer. (PMID: 14766201) Ruf A … Thoma R (Biochemical and biophysical research communications 2004) 3 4 22 58
  4. Insight into steroid scaffold formation from the structure of human oxidosqualene cyclase. (PMID: 15525992) Thoma R … Ruf A (Nature 2004) 3 4 22 58
  5. Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1). (PMID: 10598817) Roessler E … Antonarakis SE (Human genetics 1999) 3 4 22 58

Products for LSS Gene

Sources for LSS Gene

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