P48449 · LSS_HUMAN
- ProteinLanosterol synthase
- GeneLSS
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids732 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Key enzyme in the cholesterol biosynthesis pathway. Catalyzes the cyclization of (S)-2,3 oxidosqualene to lanosterol, a reaction that forms the sterol nucleus (PubMed:14766201, PubMed:26200341, PubMed:7639730).
Through the production of lanosterol may regulate lens protein aggregation and increase transparency (PubMed:26200341).
Through the production of lanosterol may regulate lens protein aggregation and increase transparency (PubMed:26200341).
Catalytic activity
- (S)-2,3-epoxysqualene = lanosterolThis reaction proceeds in the forward direction.
Pathway
Terpene metabolism; lanosterol biosynthesis; lanosterol from farnesyl diphosphate: step 3/3.
Features
Showing features for site, active site.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Site | 387 | Transition state stabilizer | ||||
Sequence: W | ||||||
Site | 444 | Transition state stabilizer | ||||
Sequence: F | ||||||
Active site | 455 | Proton donor | ||||
Sequence: D | ||||||
Site | 581 | Transition state stabilizer | ||||
Sequence: W |
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | endoplasmic reticulum membrane | |
Cellular Component | lipid droplet | |
Cellular Component | membrane | |
Molecular Function | lanosterol synthase activity | |
Biological Process | cholesterol biosynthetic process | |
Biological Process | regulation of protein stability | |
Biological Process | steroid biosynthetic process | |
Biological Process | triterpenoid biosynthetic process |
Keywords
- Molecular function
- Biological process
Enzyme and pathway databases
Chemistry
Names & Taxonomy
Protein names
- Recommended nameLanosterol synthase
- EC number
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionP48449
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Endoplasmic reticulum membrane ; Peripheral membrane protein
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Cataract 44 (CTRCT44)
- Note
- 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 alsoMIM:616509
Natural variants in CTRCT44
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_084023 | 342 | I>S | in CTRCT44; uncertain significance | |
VAR_075664 | 581 | W>R | in CTRCT44; loss of lanosterol synthase activity; dbSNP:rs864622780 | |
VAR_075665 | 588 | G>S | in CTRCT44; loss of lanosterol synthase activity; dbSNP:rs561449819 | |
VAR_084026 | 629 | W>C | in CTRCT44; uncertain significance |
Hypotrichosis 14 (HYPT14)
- Note
- DescriptionA form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT14 is an autosomal recessive form characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair.
- See alsoMIM:618275
Natural variants in HYPT14
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_081921 | 102 | L>V | in HYPT14; the protein is present in the ER but also mislocalized to the cytoplasm | |
VAR_081924 | 248 | L>P | in HYPT14; changed localization; the protein is present in the ER but is also mislocalized to the cytoplasm; dbSNP:rs1260995701 | |
VAR_081925 | 391 | F>S | in HYPT14; changed localization; the protein is present in the ER but is also mislocalized to the cytoplasm; dbSNP:rs1249530918 |
Alopecia-intellectual disability syndrome 4 (APMR4)
- Note
- DescriptionAn autosomal recessive disorder characterized by alopecia universalis, scaly skin, mild to severe intellectual disability, delayed or absent speech, and motor delay.
- See alsoMIM:618840
Natural variants in APMR4
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_084019 | 12 | G>D | in APMR4; uncertain significance | |
VAR_084020 | 14 | Y>C | in APMR4; uncertain significance | |
VAR_081922 | 141-732 | missing | in APMR4; loss of protein expression | |
VAR_081923 | 209 | N>Y | in APMR4; changed localization; the protein is present in the ER but is also mislocalized to the cytoplasm; dbSNP:rs754230211 | |
VAR_084021 | 260 | R>P | in APMR4; uncertain significance | |
VAR_084022 | 286 | Y>C | in APMR4; uncertain significance | |
VAR_084024 | 516 | N>S | in APMR4; uncertain significance | |
VAR_084025 | 604-732 | missing | in APMR4; uncertain significance | |
VAR_084027 | 652 | T>I | in APMR4; uncertain significance | |
VAR_084028 | 705 | T>K | in APMR4; uncertain significance |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_084019 | 12 | in APMR4; uncertain significance | |||
Sequence: G → D | ||||||
Natural variant | VAR_084020 | 14 | in APMR4; uncertain significance | |||
Sequence: Y → C | ||||||
Natural variant | VAR_081921 | 102 | in HYPT14; the protein is present in the ER but also mislocalized to the cytoplasm | |||
Sequence: L → V | ||||||
Natural variant | VAR_081922 | 141-732 | in APMR4; loss of protein expression | |||
Sequence: Missing | ||||||
Natural variant | VAR_024648 | 175 | in dbSNP:rs2839158 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_081923 | 209 | in APMR4; changed localization; the protein is present in the ER but is also mislocalized to the cytoplasm; dbSNP:rs754230211 | |||
Sequence: N → Y | ||||||
Natural variant | VAR_081924 | 248 | in HYPT14; changed localization; the protein is present in the ER but is also mislocalized to the cytoplasm; dbSNP:rs1260995701 | |||
Sequence: L → P | ||||||
Natural variant | VAR_084021 | 260 | in APMR4; uncertain significance | |||
Sequence: R → P | ||||||
Natural variant | VAR_084022 | 286 | in APMR4; uncertain significance | |||
Sequence: Y → C | ||||||
Natural variant | VAR_052057 | 310 | in dbSNP:rs34115287 | |||
Sequence: H → R | ||||||
Natural variant | VAR_084023 | 342 | in CTRCT44; uncertain significance | |||
Sequence: I → S | ||||||
Natural variant | VAR_081925 | 391 | in HYPT14; changed localization; the protein is present in the ER but is also mislocalized to the cytoplasm; dbSNP:rs1249530918 | |||
Sequence: F → S | ||||||
Natural variant | VAR_084024 | 516 | in APMR4; uncertain significance | |||
Sequence: N → S | ||||||
Natural variant | VAR_075664 | 581 | in CTRCT44; loss of lanosterol synthase activity; dbSNP:rs864622780 | |||
Sequence: W → R | ||||||
Natural variant | VAR_075665 | 588 | in CTRCT44; loss of lanosterol synthase activity; dbSNP:rs561449819 | |||
Sequence: G → S | ||||||
Natural variant | VAR_084025 | 604-732 | in APMR4; uncertain significance | |||
Sequence: Missing | ||||||
Natural variant | VAR_052058 | 614 | in dbSNP:rs35785446 | |||
Sequence: R → W | ||||||
Natural variant | VAR_084026 | 629 | in CTRCT44; uncertain significance | |||
Sequence: W → C | ||||||
Natural variant | VAR_021522 | 642 | in dbSNP:rs2254524 | |||
Sequence: L → V | ||||||
Natural variant | VAR_084027 | 652 | in APMR4; uncertain significance | |||
Sequence: T → I | ||||||
Natural variant | VAR_052059 | 688 | in dbSNP:rs17293705 | |||
Sequence: P → L | ||||||
Natural variant | VAR_084028 | 705 | in APMR4; uncertain significance | |||
Sequence: T → K |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 949 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for initiator methionine, modified residue, chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Initiator methionine | 1 | Removed | ||||
Sequence: M | ||||||
Modified residue | 2 | N-acetylthreonine | ||||
Sequence: T | ||||||
Chain | PRO_0000072659 | 2-732 | Lanosterol synthase | |||
Sequence: TEGTCLRRRGGPYKTEPATDLGRWRLNCERGRQTWTYLQDERAGREQTGLEAYALGLDTKNYFKDLPKAHTAFEGALNGMTFYVGLQAEDGHWTGDYGGPLFLLPGLLITCHVARIPLPAGYREEIVRYLRSVQLPDGGWGLHIEDKSTVFGTALNYVSLRILGVGPDDPDLVRARNILHKKGGAVAIPSWGKFWLAVLNVYSWEGLNTLFPEMWLFPDWAPAHPSTLWCHCRQVYLPMSYCYAVRLSAAEDPLVQSLRQELYVEDFASIDWLAQRNNVAPDELYTPHSWLLRVVYALLNLYEHHHSAHLRQRAVQKLYEHIVADDRFTKSISIGPISKTINMLVRWYVDGPASTAFQEHVSRIPDYLWMGLDGMKMQGTNGSQIWDTAFAIQALLEAGGHHRPEFSSCLQKAHEFLRLSQVPDNPPDYQKYYRQMRKGGFSFSTLDCGWIVSDCTAEALKAVLLLQEKCPHVTEHIPRERLCDAVAVLLNMRNPDGGFATYETKRGGHLLELLNPSEVFGDIMIDYTYVECTSAVMQALKYFHKRFPEHRAAEIRETLTQGLEFCRRQQRADGSWEGSWGVCFTYGTWFGLEAFACMGQTYRDGTACAEVSRACDFLLSRQMADGGWGEDFESCEERRYLQSAQSQIHNTCWAMMGLMAVRHPDIEAQERGVRCLLEKQLPNGDWPQENIAGVFNKSCAISYTSYRNIFPIWALGRFSQLYPERALAGHP |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Widely expressed. Expressed in the hair bulb, the outer root sheath and hair matrix of the hair follicle epithelium. Also detected in dermal papilla, epidermis, sweat glands, sebaceous glands, and blood vessels.
Gene expression databases
Organism-specific databases
Interaction
Subunit
Monomer.
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | P48449 | AQP6 Q13520 | 3 | EBI-3930711, EBI-13059134 | |
BINARY | P48449 | CIB1 Q99828 | 3 | EBI-3930711, EBI-372594 | |
BINARY | P48449 | SLC10A1 Q14973 | 3 | EBI-3930711, EBI-3923031 | |
BINARY | P48449 | SLC10A6 Q3KNW5 | 3 | EBI-3930711, EBI-18159983 | |
BINARY | P48449 | TMEM167B Q9NRX6 | 3 | EBI-3930711, EBI-17684533 | |
BINARY | P48449 | TMEM86B Q8N661 | 3 | EBI-3930711, EBI-2548832 | |
BINARY | P48449 | YIF1A O95070 | 3 | EBI-3930711, EBI-2799703 |
Protein-protein interaction databases
Chemistry
Miscellaneous
Structure
Family & Domains
Features
Showing features for repeat.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Repeat | 77-121 | PFTB 1 | ||||
Sequence: ALNGMTFYVGLQAEDGHWTGDYGGPLFLLPGLLITCHVARIPLPA | ||||||
Repeat | 124-165 | PFTB 2 | ||||
Sequence: REEIVRYLRSVQLPDGGWGLHIEDKSTVFGTALNYVSLRILG | ||||||
Repeat | 424-468 | PFTB 3 | ||||
Sequence: PDNPPDYQKYYRQMRKGGFSFSTLDCGWIVSDCTAEALKAVLLLQ | ||||||
Repeat | 483-528 | PFTB 4 | ||||
Sequence: LCDAVAVLLNMRNPDGGFATYETKRGGHLLELLNPSEVFGDIMIDY | ||||||
Repeat | 560-600 | PFTB 5 | ||||
Sequence: LTQGLEFCRRQQRADGSWEGSWGVCFTYGTWFGLEAFACMG | ||||||
Repeat | 612-653 | PFTB 6 | ||||
Sequence: VSRACDFLLSRQMADGGWGEDFESCEERRYLQSAQSQIHNTC | ||||||
Repeat | 670-712 | PFTB 7 | ||||
Sequence: QERGVRCLLEKQLPNGDWPQENIAGVFNKSCAISYTSYRNIFP |
Sequence similarities
Belongs to the terpene cyclase/mutase family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
This entry describes 3 isoforms produced by Alternative splicing.
P48449-1
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.
- Name1
- Length732
- Mass (Da)83,309
- Last updated1996-02-01 v1
- ChecksumE4708A5AE53585ED
P48449-2
- Name2
- Differences from canonical
- 1-80: Missing
P48449-3
- Name3
- Differences from canonical
- 133-143: Missing
Computationally mapped potential isoform sequences
There are 4 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
C9J315 | C9J315_HUMAN | LSS | 262 | ||
A0A0G2JQD0 | A0A0G2JQD0_HUMAN | LSS | 549 | ||
A0A0G2JS81 | A0A0G2JS81_HUMAN | LSS | 78 | ||
H7C3A5 | H7C3A5_HUMAN | LSS | 136 |
Features
Showing features for alternative sequence, sequence conflict.
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
U22526 EMBL· GenBank· DDBJ | AAC50184.1 EMBL· GenBank· DDBJ | mRNA | ||
D63807 EMBL· GenBank· DDBJ | BAA09875.1 EMBL· GenBank· DDBJ | mRNA | ||
S81221 EMBL· GenBank· DDBJ | AAB36220.1 EMBL· GenBank· DDBJ | mRNA | ||
AJ239031 EMBL· GenBank· DDBJ | CAB42828.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AJ239021 EMBL· GenBank· DDBJ | CAB42828.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AJ239022 EMBL· GenBank· DDBJ | CAB42828.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AJ239023 EMBL· GenBank· DDBJ | CAB42828.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AJ239024 EMBL· GenBank· DDBJ | CAB42828.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AJ239025 EMBL· GenBank· DDBJ | CAB42828.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AJ239026 EMBL· GenBank· DDBJ | CAB42828.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AJ239027 EMBL· GenBank· DDBJ | CAB42828.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AJ239028 EMBL· GenBank· DDBJ | CAB42828.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AJ239029 EMBL· GenBank· DDBJ | CAB42828.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AJ239030 EMBL· GenBank· DDBJ | CAB42828.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AK296313 EMBL· GenBank· DDBJ | BAG59011.1 EMBL· GenBank· DDBJ | mRNA | ||
AK226141 EMBL· GenBank· DDBJ | - | mRNA | No translation available. | |
AP001468 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AP001469 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471079 EMBL· GenBank· DDBJ | EAX09299.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
CH471079 EMBL· GenBank· DDBJ | EAX09301.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
CH471079 EMBL· GenBank· DDBJ | EAX09302.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
CH471079 EMBL· GenBank· DDBJ | EAX09303.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC035638 EMBL· GenBank· DDBJ | AAH35638.1 EMBL· GenBank· DDBJ | mRNA | ||
X87809 EMBL· GenBank· DDBJ | CAA61078.1 EMBL· GenBank· DDBJ | mRNA |