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Protein

Lanosterol synthase

Gene

LSS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.2 Publications

Catalytic activityi

(3S)-2,3-epoxy-2,3-dihydrosqualene = lanosterol.2 Publications

Pathwayi: lanosterol biosynthesis

This protein is involved in step 3 of the subpathway that synthesizes lanosterol from farnesyl diphosphate.
Proteins known to be involved in the 3 steps of the subpathway in this organism are:
  1. Squalene synthase (FDFT1)
  2. Squalene monooxygenase (SQLE)
  3. Lanosterol synthase (LSS)
This subpathway is part of the pathway lanosterol biosynthesis, which is itself part of Terpene metabolism.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes lanosterol from farnesyl diphosphate, the pathway lanosterol biosynthesis and in Terpene metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei387SubstrateCombined sources1 Publication1
Binding sitei444Substrate; via tele nitrogenCombined sources1 Publication1
Active sitei455Proton donor1 Publication1
Binding sitei581SubstrateCombined sources1 Publication1

GO - Molecular functioni

  • lanosterol synthase activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionIsomerase
Biological processLipid biosynthesis, Lipid metabolism, Steroid biosynthesis

Enzyme and pathway databases

BioCyciMetaCyc:HS08480-MONOMER
BRENDAi5.4.99.7 2681
ReactomeiR-HSA-191273 Cholesterol biosynthesis
R-HSA-2426168 Activation of gene expression by SREBF (SREBP)
UniPathwayi
UPA00767;UER00753

Chemistry databases

SwissLipidsiSLP:000000646
SLP:000001308 [P48449-1]

Names & Taxonomyi

Protein namesi
Recommended name:
Lanosterol synthase (EC:5.4.99.7)
Alternative name(s):
2,3-epoxysqualene--lanosterol cyclase
Oxidosqualene--lanosterol cyclase
Short name:
OSC
Short name:
hOSC
Gene namesi
Name:LSS
Synonyms:OSC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

EuPathDBiHostDB:ENSG00000160285.14
HGNCiHGNC:6708 LSS
MIMi600909 gene
neXtProtiNX_P48449

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Cataract 44 (CTRCT44)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:616509
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075664581W → R in CTRCT44; loss of lanosterol synthase activity. 1 PublicationCorresponds to variant dbSNP:rs864622780EnsemblClinVar.1
Natural variantiVAR_075665588G → S in CTRCT44; loss of lanosterol synthase activity. 1 PublicationCorresponds to variant dbSNP:rs561449819EnsemblClinVar.1

Keywords - Diseasei

Cataract, Disease mutation

Organism-specific databases

DisGeNETi4047
MalaCardsiLSS
MIMi616509 phenotype
OpenTargetsiENSG00000160285
Orphaneti98994 Total early-onset cataract
PharmGKBiPA30473

Chemistry databases

ChEMBLiCHEMBL3593
DrugBankiDB03696 Lanosterol
DB02016 R048-8071
GuidetoPHARMACOLOGYi2434

Polymorphism and mutation databases

BioMutaiLSS
DMDMi1352387

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources1 Publication
ChainiPRO_00000726592 – 732Lanosterol synthaseAdd BLAST731

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylthreonineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiP48449
MaxQBiP48449
PaxDbiP48449
PeptideAtlasiP48449
PRIDEiP48449
ProteomicsDBi55893

PTM databases

iPTMnetiP48449
PhosphoSitePlusiP48449
SwissPalmiP48449

Expressioni

Gene expression databases

BgeeiENSG00000160285 Expressed in 236 organ(s), highest expression level in right ovary
CleanExiHS_LSS
ExpressionAtlasiP48449 baseline and differential
GenevisibleiP48449 HS

Organism-specific databases

HPAiCAB034116
HPA032060
HPA032062

Interactioni

Subunit structurei

Monomer.1 Publication

Protein-protein interaction databases

BioGridi110225, 15 interactors
IntActiP48449, 13 interactors
STRINGi9606.ENSP00000348762

Chemistry databases

BindingDBiP48449

Structurei

Secondary structure

1732
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP48449
SMRiP48449
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP48449

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati77 – 121PFTB 1Sequence analysisAdd BLAST45
Repeati124 – 165PFTB 2Sequence analysisAdd BLAST42
Repeati424 – 468PFTB 3Sequence analysisAdd BLAST45
Repeati483 – 528PFTB 4Sequence analysisAdd BLAST46
Repeati560 – 600PFTB 5Sequence analysisAdd BLAST41
Repeati612 – 653PFTB 6Sequence analysisAdd BLAST42
Repeati670 – 712PFTB 7Sequence analysisAdd BLAST43

Sequence similaritiesi

Belongs to the terpene cyclase/mutase family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0497 Eukaryota
COG1657 LUCA
GeneTreeiENSGT00390000011570
HOGENOMiHOG000234317
HOVERGENiHBG005604
InParanoidiP48449
KOiK01852
OMAiYVECTDS
OrthoDBiEOG091G02LL
PhylomeDBiP48449
TreeFamiTF300406

Family and domain databases

CDDicd02892 SQCY_1, 1 hit
InterProiView protein in InterPro
IPR032696 SQ_cyclase_C
IPR032697 SQ_cyclase_N
IPR018333 Squalene_cyclase
IPR002365 Terpene_synthase_CS
IPR008930 Terpenoid_cyclase/PrenylTrfase
PfamiView protein in Pfam
PF13243 SQHop_cyclase_C, 1 hit
PF13249 SQHop_cyclase_N, 1 hit
SUPFAMiSSF48239 SSF48239, 2 hits
TIGRFAMsiTIGR01787 squalene_cyclas, 1 hit
PROSITEiView protein in PROSITE
PS01074 TERPENE_SYNTHASES, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P48449-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MTEGTCLRRR GGPYKTEPAT DLGRWRLNCE RGRQTWTYLQ DERAGREQTG
60 70 80 90 100
LEAYALGLDT KNYFKDLPKA HTAFEGALNG MTFYVGLQAE DGHWTGDYGG
110 120 130 140 150
PLFLLPGLLI TCHVARIPLP AGYREEIVRY LRSVQLPDGG WGLHIEDKST
160 170 180 190 200
VFGTALNYVS LRILGVGPDD PDLVRARNIL HKKGGAVAIP SWGKFWLAVL
210 220 230 240 250
NVYSWEGLNT LFPEMWLFPD WAPAHPSTLW CHCRQVYLPM SYCYAVRLSA
260 270 280 290 300
AEDPLVQSLR QELYVEDFAS IDWLAQRNNV APDELYTPHS WLLRVVYALL
310 320 330 340 350
NLYEHHHSAH LRQRAVQKLY EHIVADDRFT KSISIGPISK TINMLVRWYV
360 370 380 390 400
DGPASTAFQE HVSRIPDYLW MGLDGMKMQG TNGSQIWDTA FAIQALLEAG
410 420 430 440 450
GHHRPEFSSC LQKAHEFLRL SQVPDNPPDY QKYYRQMRKG GFSFSTLDCG
460 470 480 490 500
WIVSDCTAEA LKAVLLLQEK CPHVTEHIPR ERLCDAVAVL LNMRNPDGGF
510 520 530 540 550
ATYETKRGGH LLELLNPSEV FGDIMIDYTY VECTSAVMQA LKYFHKRFPE
560 570 580 590 600
HRAAEIRETL TQGLEFCRRQ QRADGSWEGS WGVCFTYGTW FGLEAFACMG
610 620 630 640 650
QTYRDGTACA EVSRACDFLL SRQMADGGWG EDFESCEERR YLQSAQSQIH
660 670 680 690 700
NTCWAMMGLM AVRHPDIEAQ ERGVRCLLEK QLPNGDWPQE NIAGVFNKSC
710 720 730
AISYTSYRNI FPIWALGRFS QLYPERALAG HP
Length:732
Mass (Da):83,309
Last modified:February 1, 1996 - v1
Checksum:iE4708A5AE53585ED
GO
Isoform 2 (identifier: P48449-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-80: Missing.

Note: No experimental confirmation available.
Show »
Length:652
Mass (Da):74,218
Checksum:i89E4851E8F451100
GO
Isoform 3 (identifier: P48449-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     133-143: Missing.

Note: No experimental confirmation available.
Show »
Length:721
Mass (Da):82,199
Checksum:iEE5504BCAF3EEE27
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0G2JQD0A0A0G2JQD0_HUMAN
Lanosterol synthase
LSS
549Annotation score:
C9J315C9J315_HUMAN
Lanosterol synthase
LSS
262Annotation score:
H7C3A5H7C3A5_HUMAN
Lanosterol synthase
LSS
136Annotation score:
A0A0G2JS81A0A0G2JS81_HUMAN
Lanosterol synthase
LSS
78Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti348W → R in CAB42828 (PubMed:10598817).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_024648175R → Q. Corresponds to variant dbSNP:rs2839158Ensembl.1
Natural variantiVAR_052057310H → R. Corresponds to variant dbSNP:rs34115287Ensembl.1
Natural variantiVAR_075664581W → R in CTRCT44; loss of lanosterol synthase activity. 1 PublicationCorresponds to variant dbSNP:rs864622780EnsemblClinVar.1
Natural variantiVAR_075665588G → S in CTRCT44; loss of lanosterol synthase activity. 1 PublicationCorresponds to variant dbSNP:rs561449819EnsemblClinVar.1
Natural variantiVAR_052058614R → W. Corresponds to variant dbSNP:rs35785446Ensembl.1
Natural variantiVAR_021522642L → V3 PublicationsCorresponds to variant dbSNP:rs2254524Ensembl.1
Natural variantiVAR_052059688P → L. Corresponds to variant dbSNP:rs17293705Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0454071 – 80Missing in isoform 2. 1 PublicationAdd BLAST80
Alternative sequenceiVSP_046188133 – 143Missing in isoform 3. 1 PublicationAdd BLAST11

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U22526 mRNA Translation: AAC50184.1
D63807 mRNA Translation: BAA09875.1
S81221 mRNA Translation: AAB36220.1
AJ239031
, AJ239021, AJ239022, AJ239023, AJ239024, AJ239025, AJ239026, AJ239027, AJ239028, AJ239029, AJ239030 Genomic DNA Translation: CAB42828.1
AK296313 mRNA Translation: BAG59011.1
AK226141 mRNA No translation available.
AP001468 Genomic DNA No translation available.
AP001469 Genomic DNA No translation available.
CH471079 Genomic DNA Translation: EAX09299.1
CH471079 Genomic DNA Translation: EAX09301.1
CH471079 Genomic DNA Translation: EAX09302.1
CH471079 Genomic DNA Translation: EAX09303.1
BC035638 mRNA Translation: AAH35638.1
X87809 mRNA Translation: CAA61078.1
CCDSiCCDS13733.1 [P48449-1]
CCDS46654.1 [P48449-3]
CCDS54489.1 [P48449-2]
PIRiJC4194
RefSeqiNP_001001438.1, NM_001001438.2 [P48449-1]
NP_001138908.1, NM_001145436.1 [P48449-3]
NP_001138909.1, NM_001145437.1 [P48449-2]
NP_002331.3, NM_002340.5 [P48449-1]
XP_016883835.1, XM_017028346.1 [P48449-1]
XP_016883836.1, XM_017028347.1 [P48449-3]
UniGeneiHs.596543

Genome annotation databases

EnsembliENST00000356396; ENSP00000348762; ENSG00000160285 [P48449-1]
ENST00000397728; ENSP00000380837; ENSG00000160285 [P48449-1]
ENST00000457828; ENSP00000409191; ENSG00000160285 [P48449-2]
ENST00000522411; ENSP00000429133; ENSG00000160285 [P48449-3]
GeneIDi4047
KEGGihsa:4047
UCSCiuc002zij.4 human [P48449-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U22526 mRNA Translation: AAC50184.1
D63807 mRNA Translation: BAA09875.1
S81221 mRNA Translation: AAB36220.1
AJ239031
, AJ239021, AJ239022, AJ239023, AJ239024, AJ239025, AJ239026, AJ239027, AJ239028, AJ239029, AJ239030 Genomic DNA Translation: CAB42828.1
AK296313 mRNA Translation: BAG59011.1
AK226141 mRNA No translation available.
AP001468 Genomic DNA No translation available.
AP001469 Genomic DNA No translation available.
CH471079 Genomic DNA Translation: EAX09299.1
CH471079 Genomic DNA Translation: EAX09301.1
CH471079 Genomic DNA Translation: EAX09302.1
CH471079 Genomic DNA Translation: EAX09303.1
BC035638 mRNA Translation: AAH35638.1
X87809 mRNA Translation: CAA61078.1
CCDSiCCDS13733.1 [P48449-1]
CCDS46654.1 [P48449-3]
CCDS54489.1 [P48449-2]
PIRiJC4194
RefSeqiNP_001001438.1, NM_001001438.2 [P48449-1]
NP_001138908.1, NM_001145436.1 [P48449-3]
NP_001138909.1, NM_001145437.1 [P48449-2]
NP_002331.3, NM_002340.5 [P48449-1]
XP_016883835.1, XM_017028346.1 [P48449-1]
XP_016883836.1, XM_017028347.1 [P48449-3]
UniGeneiHs.596543

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1W6JX-ray2.20A1-732[»]
1W6KX-ray2.10A1-732[»]
ProteinModelPortaliP48449
SMRiP48449
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110225, 15 interactors
IntActiP48449, 13 interactors
STRINGi9606.ENSP00000348762

Chemistry databases

BindingDBiP48449
ChEMBLiCHEMBL3593
DrugBankiDB03696 Lanosterol
DB02016 R048-8071
GuidetoPHARMACOLOGYi2434
SwissLipidsiSLP:000000646
SLP:000001308 [P48449-1]

PTM databases

iPTMnetiP48449
PhosphoSitePlusiP48449
SwissPalmiP48449

Polymorphism and mutation databases

BioMutaiLSS
DMDMi1352387

Proteomic databases

EPDiP48449
MaxQBiP48449
PaxDbiP48449
PeptideAtlasiP48449
PRIDEiP48449
ProteomicsDBi55893

Protocols and materials databases

DNASUi4047
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000356396; ENSP00000348762; ENSG00000160285 [P48449-1]
ENST00000397728; ENSP00000380837; ENSG00000160285 [P48449-1]
ENST00000457828; ENSP00000409191; ENSG00000160285 [P48449-2]
ENST00000522411; ENSP00000429133; ENSG00000160285 [P48449-3]
GeneIDi4047
KEGGihsa:4047
UCSCiuc002zij.4 human [P48449-1]

Organism-specific databases

CTDi4047
DisGeNETi4047
EuPathDBiHostDB:ENSG00000160285.14
GeneCardsiLSS
HGNCiHGNC:6708 LSS
HPAiCAB034116
HPA032060
HPA032062
MalaCardsiLSS
MIMi600909 gene
616509 phenotype
neXtProtiNX_P48449
OpenTargetsiENSG00000160285
Orphaneti98994 Total early-onset cataract
PharmGKBiPA30473
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0497 Eukaryota
COG1657 LUCA
GeneTreeiENSGT00390000011570
HOGENOMiHOG000234317
HOVERGENiHBG005604
InParanoidiP48449
KOiK01852
OMAiYVECTDS
OrthoDBiEOG091G02LL
PhylomeDBiP48449
TreeFamiTF300406

Enzyme and pathway databases

UniPathwayi
UPA00767;UER00753

BioCyciMetaCyc:HS08480-MONOMER
BRENDAi5.4.99.7 2681
ReactomeiR-HSA-191273 Cholesterol biosynthesis
R-HSA-2426168 Activation of gene expression by SREBF (SREBP)

Miscellaneous databases

ChiTaRSiLSS human
EvolutionaryTraceiP48449
GeneWikiiLanosterol_synthase
GenomeRNAii4047
PROiPR:P48449
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000160285 Expressed in 236 organ(s), highest expression level in right ovary
CleanExiHS_LSS
ExpressionAtlasiP48449 baseline and differential
GenevisibleiP48449 HS

Family and domain databases

CDDicd02892 SQCY_1, 1 hit
InterProiView protein in InterPro
IPR032696 SQ_cyclase_C
IPR032697 SQ_cyclase_N
IPR018333 Squalene_cyclase
IPR002365 Terpene_synthase_CS
IPR008930 Terpenoid_cyclase/PrenylTrfase
PfamiView protein in Pfam
PF13243 SQHop_cyclase_C, 1 hit
PF13249 SQHop_cyclase_N, 1 hit
SUPFAMiSSF48239 SSF48239, 2 hits
TIGRFAMsiTIGR01787 squalene_cyclas, 1 hit
PROSITEiView protein in PROSITE
PS01074 TERPENE_SYNTHASES, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiERG7_HUMAN
AccessioniPrimary (citable) accession number: P48449
Secondary accession number(s): B4DJZ9
, D3DSN0, E9PEI9, G5E9Q9, Q8IYL6, Q9UEZ1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: February 1, 1996
Last modified: November 7, 2018
This is version 177 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. Human chromosome 21
    Human chromosome 21: entries, gene names and cross-references to MIM
  7. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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