Details for: LSS

Gene ID: 4047

Symbol: LSS

Ensembl ID: ENSG00000160285

Description: lanosterol synthase

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 2.49
    Marker Score: 8164
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 2.47
    Marker Score: 1446
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 2.28
    Marker Score: 955
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 2
    Marker Score: 35529
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.95
    Marker Score: 2355
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.88
    Marker Score: 7858.5
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.76
    Marker Score: 480
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 1.55
    Marker Score: 2090
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 1.55
    Marker Score: 3718
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.51
    Marker Score: 32315
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.38
    Marker Score: 14256
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.36
    Marker Score: 12812
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.33
    Marker Score: 2049
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 1.31
    Marker Score: 764
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.26
    Marker Score: 5148
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 1.26
    Marker Score: 750
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.18
    Marker Score: 44859
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.16
    Marker Score: 4473
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.14
    Marker Score: 1225
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.09
    Marker Score: 10351
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.08
    Marker Score: 317
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.07
    Marker Score: 16041
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 1.07
    Marker Score: 36284
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71764
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47989
  • Cell Name: fat cell (CL0000136)
    Fold Change: 1
    Marker Score: 557
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.99
    Marker Score: 60769
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.98
    Marker Score: 7530
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.98
    Marker Score: 8425
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30400
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.98
    Marker Score: 1705
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.95
    Marker Score: 1098
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.95
    Marker Score: 488
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2406
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.94
    Marker Score: 443
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 0.94
    Marker Score: 6104
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.93
    Marker Score: 18515
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.91
    Marker Score: 3783
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.91
    Marker Score: 729
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2721
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.9
    Marker Score: 989
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.88
    Marker Score: 299
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.88
    Marker Score: 5011
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 0.88
    Marker Score: 1409
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5295
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.87
    Marker Score: 3757
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.87
    Marker Score: 312
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.86
    Marker Score: 271
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 0.84
    Marker Score: 368
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.82
    Marker Score: 756
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.78
    Marker Score: 599.5
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.78
    Marker Score: 12537
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1266
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.78
    Marker Score: 377
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.77
    Marker Score: 242
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.75
    Marker Score: 304
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.75
    Marker Score: 301
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.75
    Marker Score: 4023
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.75
    Marker Score: 4799
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.74
    Marker Score: 27460
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.74
    Marker Score: 638
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.73
    Marker Score: 379
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.72
    Marker Score: 473
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.72
    Marker Score: 3001
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 0.71
    Marker Score: 261
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.71
    Marker Score: 807
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.71
    Marker Score: 226
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.7
    Marker Score: 1641
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.69
    Marker Score: 629
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.69
    Marker Score: 987
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.68
    Marker Score: 216
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.68
    Marker Score: 2505
  • Cell Name: fibroblast of connective tissue of prostate (CL1000299)
    Fold Change: 0.67
    Marker Score: 168
  • Cell Name: prostate stromal cell (CL0002622)
    Fold Change: 0.67
    Marker Score: 168
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.66
    Marker Score: 170
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.65
    Marker Score: 150
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 0.65
    Marker Score: 3404
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.63
    Marker Score: 775
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 0.62
    Marker Score: 515.5
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.61
    Marker Score: 3645
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.6
    Marker Score: 13312
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 0.6
    Marker Score: 742
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.58
    Marker Score: 339
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 0.56
    Marker Score: 793
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 0.56
    Marker Score: 148
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.56
    Marker Score: 1995
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.56
    Marker Score: 1231.5
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 0.55
    Marker Score: 308
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 0.55
    Marker Score: 2718
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.54
    Marker Score: 431
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: 0.53
    Marker Score: 220
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.52
    Marker Score: 196
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.52
    Marker Score: 2415
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.52
    Marker Score: 168
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.52
    Marker Score: 518.5
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.51
    Marker Score: 495
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.5
    Marker Score: 343
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.5
    Marker Score: 4317
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.5
    Marker Score: 143
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.49
    Marker Score: 329

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Other Information

**Key characteristics:** * The LSS gene is located on chromosome 15q21.1. * It encodes a protein that is encoded by the LSS_HUMAN gene. * The protein is a transmembrane protein that is found in the endoplasmic reticulum. * It is a key enzyme in the cholesterol biosynthetic process, and its activity is regulated by the srebp signaling pathway. **Pathways and functions:** * The LSS gene is involved in the regulation of cholesterol biosynthesis. * It is a key enzyme in the cholesterol biosynthetic process, and its activity is regulated by the srebp signaling pathway. * The protein is also involved in the regulation of cholesterol efflux from cells. **Clinical significance:** * Mutations in the LSS gene have been linked to several human diseases, including hypercholesterolemia and atherosclerosis. * These diseases are characterized by high levels of cholesterol in the blood, which can lead to heart disease and stroke. * The development of drugs that target the LSS gene is an area of active research, as such drugs could be used to treat these diseases.

Genular Protein ID: 1753128708

Symbol: LSS_HUMAN

Name: Lanosterol synthase

UniProtKB Accession Codes:

P48449 B4DJZ9 D3DSN0 E9PEI9 G5E9Q9 Q8IYL6 Q9UEZ1

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 1 ChEBI 2 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 EC 1 EMBL 24 EPD 1 Ensembl 4 EvolutionaryTrace 1 ExpressionAtlas 1 GO 8 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 MANE-Select 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 2 PIR 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 2 RefSeq 6 Rhea 2 SFLD 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7639730

Title: Molecular cloning of the human gene encoding lanosterol synthase from a liver cDNA library.

PubMed ID: 7639730

DOI: 10.1006/bbrc.1995.2110

PubMed ID: 8593458

Title: Molecular cloning of cDNA encoding human lanosterol synthase.

PubMed ID: 8593458

DOI: 10.1248/bpb.18.1459

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 10598817

Title: Structure of the human lanosterol synthase gene and its analysis as a candidate for holoprosencephaly.

PubMed ID: 10598817

DOI: 10.1007/s004390051135

PubMed ID: 10830953

Title: The DNA sequence of human chromosome 21.

PubMed ID: 10830953

DOI: 10.1038/35012518

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 14766201

Title: The monotopic membrane protein human oxidosqualene cyclase is active as monomer.

PubMed ID: 14766201

DOI: 10.1016/j.bbrc.2004.01.052

PubMed ID: 8655142

Title: The human lanosterol synthase gene maps to chromosome 21q22.3.

PubMed ID: 8655142

DOI: 10.1007/bf02281872

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 26200341

Title: Lanosterol reverses protein aggregation in cataracts.

PubMed ID: 26200341

DOI: 10.1038/nature14650

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 29016354

Title: Congenital cataract with LSS gene mutations: a new case report.

PubMed ID: 29016354

DOI: 10.1515/jpem-2017-0101

PubMed ID: 30401459

Title: Bi-allelic mutations in LSS, encoding lanosterol synthase, cause autosomal-recessive hypotrichosis simplex.

PubMed ID: 30401459

DOI: 10.1016/j.ajhg.2018.09.011

PubMed ID: 30723320

Title: Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.

PubMed ID: 30723320

DOI: 10.1038/s41436-019-0445-x

PubMed ID: 15525992

Title: Insight into steroid scaffold formation from the structure of human oxidosqualene cyclase.

PubMed ID: 15525992

DOI: 10.1038/nature02993

Sequence Information:

  • Length: 732
  • Mass: 83309
  • Checksum: E4708A5AE53585ED
  • Sequence:
    • MTEGTCLRRR GGPYKTEPAT DLGRWRLNCE RGRQTWTYLQ DERAGREQTG LEAYALGLDT 
KNYFKDLPKA HTAFEGALNG MTFYVGLQAE DGHWTGDYGG PLFLLPGLLI TCHVARIPLP 
AGYREEIVRY LRSVQLPDGG WGLHIEDKST VFGTALNYVS LRILGVGPDD PDLVRARNIL 
HKKGGAVAIP SWGKFWLAVL NVYSWEGLNT LFPEMWLFPD WAPAHPSTLW CHCRQVYLPM 
SYCYAVRLSA AEDPLVQSLR QELYVEDFAS IDWLAQRNNV APDELYTPHS WLLRVVYALL 
NLYEHHHSAH LRQRAVQKLY EHIVADDRFT KSISIGPISK TINMLVRWYV DGPASTAFQE 
HVSRIPDYLW MGLDGMKMQG TNGSQIWDTA FAIQALLEAG GHHRPEFSSC LQKAHEFLRL 
SQVPDNPPDY QKYYRQMRKG GFSFSTLDCG WIVSDCTAEA LKAVLLLQEK CPHVTEHIPR 
ERLCDAVAVL LNMRNPDGGF ATYETKRGGH LLELLNPSEV FGDIMIDYTY VECTSAVMQA 
LKYFHKRFPE HRAAEIRETL TQGLEFCRRQ QRADGSWEGS WGVCFTYGTW FGLEAFACMG 
QTYRDGTACA EVSRACDFLL SRQMADGGWG EDFESCEERR YLQSAQSQIH NTCWAMMGLM 
AVRHPDIEAQ ERGVRCLLEK QLPNGDWPQE NIAGVFNKSC AISYTSYRNI FPIWALGRFS 
QLYPERALAG HP

Genular Protein ID: 3474049963

Symbol: B2R694_HUMAN

Name: N/A

UniProtKB Accession Codes:

B2R694

Database IDs:

ARBA 2 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 DNASU 1 EMBL 2 GO 3 Gene3D 2 Genevisible 1 GenomeRNAi 1 InterPro 5 NCBI Taxonomy 1 NCBIfam 1 OrthoDB 1 PANTHER 2 PROSITE 1 PeptideAtlas 1 Pfam 4 PharmGKB 1 RefSeq 2 RuleBase 1 SFLD 1 SUPFAM 1

Sequence Information:

  • Length: 732
  • Mass: 83424
  • Checksum: 19279807FC7334F6
  • Sequence:
    • MTEGTCLRRR GGPYKTEPAT DLGRWRLNCE RGRQTWTYLQ DERAGREQTG LEAYALGLDT 
KNYFKDLPKA HTAFEGALNG MTFYVGLQAE DGHWTGDYGG PLFLLPGLLI TCHVARIPLP 
AGYREEIVRY LRSVQLPDGG WGLHIEDKST VFGTALNYVS LRILGVGPDD PDLVRARNIL 
HKKGGAVAIP SWGKFWLAVL NVYSWEGLNT LFPEMWLFPD WAPAHPSTLW CHCRQVYLPM 
SYCYAVRLSA AEDPLVQSLR QELYVEDFAS IDWLAQRNNV APDELYTPHS WLLRVVYALL 
NLYEHHHSAH LRQRAVQKLY EHIVADDRFT KSISIGPISK TINMLVRWYV DWPASTAFQE 
HVSRIPDYLW MGLDGMKMQG TNGSQIWDTA FAIQALLEAG GHHRPEFSSC LQKAHEFLRL 
SQVPDNPPDY QKYYRQMRKG GFSFSTLDCG WIVSDCTAEA LKAVLLLQEK CPHVTEHIPR 
ERLCDAVAVL LNMRNPDGGF ATYETKRGGH LLELLNPSEV FGDIMIDYTY VECTSAVMQA 
LKYFHKRFPE HRAAEIRETL TQGLEFCRRQ QRADGSWEGS WGVCFTYGTW FGLEAFACMG 
QTYRDGTACA EVSRACDFLL SRQMADGGWG EDFESCEERR YVQSAQSQIH NTCWAMMGLM 
AVRHPDIEAQ ERGVRCLLEK QLPNGDWPQE NIAGVFNKSC AISYTSYRNI FPIWALGRFS 
QLYPERALAG HP

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.