ENSG00000160285


Homo sapiens

Features
Gene ID: ENSG00000160285
  
Biological name :LSS
  
Synonyms : lanosterol synthase / LSS / P48449
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 21
Strand: -1
Band: q22.3
Gene start: 46188141
Gene end: 46228824
  
Corresponding Affymetrix probe sets: 202245_at (Human Genome U133 Plus 2.0 Array)   211018_at (Human Genome U133 Plus 2.0 Array)   211019_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000410678
Ensembl peptide - ENSP00000409191
Ensembl peptide - ENSP00000429133
Ensembl peptide - ENSP00000348762
Ensembl peptide - ENSP00000380837
Ensembl peptide - ENSP00000391368
NCBI entrez gene - 4047     See in Manteia.
OMIM - 600909
RefSeq - XM_017028348
RefSeq - NM_002340
RefSeq - XM_011529564
RefSeq - XM_011529565
RefSeq - XM_011529566
RefSeq - XM_011529567
RefSeq - XM_017028346
RefSeq - XM_017028347
RefSeq - NM_001001438
RefSeq - NM_001145436
RefSeq - NM_001145437
RefSeq Peptide - NP_002331
RefSeq Peptide - NP_001001438
RefSeq Peptide - NP_001138908
RefSeq Peptide - NP_001138909
swissprot - P48449
swissprot - H7C3A5
swissprot - C9J315
Ensembl - ENSG00000160285
  
Related genetic diseases (OMIM): 616509 - Cataract 44, 616509
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 lssENSDARG00000061274Danio rerio
 LSSENSGALG00000006198Gallus gallus
 LssENSMUSG00000033105Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR002365  Terpene synthase, conserved site
 IPR008930  Terpenoid cyclases/protein prenyltransferase alpha-alpha toroid
 IPR018333  Squalene cyclase
 IPR032696  Squalene cyclase, C-terminal
 IPR032697  Squalene cyclase, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006694 steroid biosynthetic process IMP
 biological_processGO:0006695 cholesterol biosynthetic process IMP
 biological_processGO:0031647 regulation of protein stability IMP
 biological_processGO:0045540 regulation of cholesterol biosynthetic process TAS
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0005811 lipid droplet IDA
 cellular_componentGO:0016020 membrane IEA
 molecular_functionGO:0000250 lanosterol synthase activity TAS
 molecular_functionGO:0016853 isomerase activity IEA
 molecular_functionGO:0016866 intramolecular transferase activity IEA


Pathways (from Reactome)
Pathway description
Cholesterol biosynthesis
Activation of gene expression by SREBF (SREBP)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000519 Congenital cataract "A congenital `cataract` (HP:0000518)." [HPO:probinson]
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 HP:0000572 Visual loss 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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