Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Lanosterol synthase

Gene

LSS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>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
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei387SubstrateCombined sources1 Publication1
Binding sitei444Substrate; via tele nitrogenCombined sources1 Publication1
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei455Proton donor1 Publication1
Binding sitei581SubstrateCombined sources1 Publication1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • lanosterol synthase activity Source: UniProtKB

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionIsomerase
Biological processLipid biosynthesis, Lipid metabolism, Steroid biosynthesis

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS08480-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
5.4.99.7 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-191273 Cholesterol biosynthesis
R-HSA-2426168 Activation of gene expression by SREBF (SREBP)

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00767;UER00753

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000000646
SLP:000001308 [P48449-1]

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:LSS
Synonyms:OSC
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 21

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000160285.14

Human Gene Nomenclature Database

More...
HGNCi
HGNC:6708 LSS

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
600909 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P48449

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
4047

MalaCards human disease database

More...
MalaCardsi
LSS
MIMi616509 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000160285

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
98994 Total early-onset cataract

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30473

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3593

Drug and drug target database

More...
DrugBanki
DB03696 Lanosterol
DB02016 R048-8071

IUPHAR/BPS Guide to PHARMACOLOGY

More...
GuidetoPHARMACOLOGYi
2434

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
LSS

Domain mapping of disease mutations (DMDM)

More...
DMDMi
1352387

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources1 Publication
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000726592 – 732Lanosterol synthaseAdd BLAST731

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylthreonineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P48449

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
P48449

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P48449

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P48449

PeptideAtlas

More...
PeptideAtlasi
P48449

PRoteomics IDEntifications database

More...
PRIDEi
P48449

ProteomicsDB human proteome resource

More...
ProteomicsDBi
55893

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P48449

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P48449

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
P48449

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000160285 Expressed in 236 organ(s), highest expression level in right ovary

CleanEx database of gene expression profiles

More...
CleanExi
HS_LSS

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P48449 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P48449 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB034116
HPA032060
HPA032062

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer.1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
110225, 15 interactors

Protein interaction database and analysis system

More...
IntActi
P48449, 13 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000348762

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P48449

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

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

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1W6JX-ray2.20A1-732[»]
1W6KX-ray2.10A1-732[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
P48449

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
P48449

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P48449

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>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

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the terpene cyclase/mutase family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0497 Eukaryota
COG1657 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000011570

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000234317

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG005604

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P48449

KEGG Orthology (KO)

More...
KOi
K01852

Identification of Orthologs from Complete Genome Data

More...
OMAi
YVECTDS

Database of Orthologous Groups

More...
OrthoDBi
365003at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P48449

TreeFam database of animal gene trees

More...
TreeFami
TF300406

Family and domain databases

Conserved Domains Database

More...
CDDi
cd02892 SQCY_1, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR032696 SQ_cyclase_C
IPR032697 SQ_cyclase_N
IPR018333 Squalene_cyclase
IPR002365 Terpene_synthase_CS
IPR008930 Terpenoid_cyclase/PrenylTrfase

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF13243 SQHop_cyclase_C, 1 hit
PF13249 SQHop_cyclase_N, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48239 SSF48239, 2 hits

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR01787 squalene_cyclas, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS01074 TERPENE_SYNTHASES, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9J315C9J315_HUMAN
Lanosterol synthase
LSS
262Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C3A5H7C3A5_HUMAN
Lanosterol synthase
LSS
136Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0G2JS81A0A0G2JS81_HUMAN
Lanosterol synthase
LSS
78Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS13733.1 [P48449-1]
CCDS46654.1 [P48449-3]
CCDS54489.1 [P48449-2]

Protein sequence database of the Protein Information Resource

More...
PIRi
JC4194

NCBI Reference Sequences

More...
RefSeqi
NP_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]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.596543

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000356396; ENSP00000348762; ENSG00000160285 [P48449-1]
ENST00000397728; ENSP00000380837; ENSG00000160285 [P48449-1]
ENST00000457828; ENSP00000409191; ENSG00000160285 [P48449-2]
ENST00000522411; ENSP00000429133; ENSG00000160285 [P48449-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
4047

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:4047

UCSC genome browser

More...
UCSCi
uc002zij.4 human [P48449-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
jPOSTiP48449
MaxQBiP48449
PaxDbiP48449
PeptideAtlasiP48449
PRIDEiP48449
ProteomicsDBi55893

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
4047
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

Comparative Toxicogenomics Database

More...
CTDi
4047
DisGeNETi4047
EuPathDBiHostDB:ENSG00000160285.14

GeneCards: human genes, protein and diseases

More...
GeneCardsi
LSS
HGNCiHGNC:6708 LSS
HPAiCAB034116
HPA032060
HPA032062
MalaCardsiLSS
MIMi600909 gene
616509 phenotype
neXtProtiNX_P48449
OpenTargetsiENSG00000160285
Orphaneti98994 Total early-onset cataract
PharmGKBiPA30473

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0497 Eukaryota
COG1657 LUCA
GeneTreeiENSGT00390000011570
HOGENOMiHOG000234317
HOVERGENiHBG005604
InParanoidiP48449
KOiK01852
OMAiYVECTDS
OrthoDBi365003at2759
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

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
LSS human
EvolutionaryTraceiP48449

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Lanosterol_synthase

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
4047

Protein Ontology

More...
PROi
PR:P48449

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiERG7_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P48449
Secondary accession number(s): B4DJZ9
, D3DSN0, E9PEI9, G5E9Q9, Q8IYL6, Q9UEZ1
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: February 1, 1996
Last modified: January 16, 2019
This is version 179 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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 chromosome 21
    Human chromosome 21: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  7. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again