Gene/Proteome Database (LMPD)
LMPD ID
LMP001087
Gene ID
Species
Homo sapiens (Human)
Gene Name
lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)
Gene Symbol
Synonyms
OSC
Chromosome
21
Map Location
21q22.3
EC Number
5.4.99.7
Summary
The protein encoded by this gene catalyzes the conversion of (S)-2,3 oxidosqualene to lanosterol. The encoded protein is a member of the terpene cyclase/mutase family and catalyzes the first step in the biosynthesis of cholesterol, steroid hormones, and vitamin D. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2009]
Orthologs
Proteins
| lanosterol synthase isoform 1 | |
|---|---|
| Refseq ID | NP_002331 |
| Protein GI | 47933395 |
| UniProt ID | P48449 |
| mRNA ID | NM_002340 |
| Length | 732 |
| RefSeq Status | REVIEWED |
| MTEGTCLRRRGGPYKTEPATDLGRWRLNCERGRQTWTYLQDERAGREQTGLEAYALGLDTKNYFKDLPKAHTAFEGALNGMTFYVGLQAEDGHWTGDYGGPLFLLPGLLITCHVARIPLPAGYREEIVRYLRSVQLPDGGWGLHIEDKSTVFGTALNYVSLRILGVGPDDPDLVRARNILHKKGGAVAIPSWGKFWLAVLNVYSWEGLNTLFPEMWLFPDWAPAHPSTLWCHCRQVYLPMSYCYAVRLSAAEDPLVQSLRQELYVEDFASIDWLAQRNNVAPDELYTPHSWLLRVVYALLNLYEHHHSAHLRQRAVQKLYEHIVADDRFTKSISIGPISKTINMLVRWYVDGPASTAFQEHVSRIPDYLWMGLDGMKMQGTNGSQIWDTAFAIQALLEAGGHHRPEFSSCLQKAHEFLRLSQVPDNPPDYQKYYRQMRKGGFSFSTLDCGWIVSDCTAEALKAVLLLQEKCPHVTEHIPRERLCDAVAVLLNMRNPDGGFATYETKRGGHLLELLNPSEVFGDIMIDYTYVECTSAVMQALKYFHKRFPEHRAAEIRETLTQGLEFCRRQQRADGSWEGSWGVCFTYGTWFGLEAFACMGQTYRDGTACAEVSRACDFLLSRQMADGGWGEDFESCEERRYLQSAQSQIHNTCWAMMGLMAVRHPDIEAQERGVRCLLEKQLPNGDWPQENIAGVFNKSCAISYTSYRNIFPIWALGRFSQLYPERALAGHP | |
| lanosterol synthase isoform 1 | |
|---|---|
| Refseq ID | NP_001001438 |
| Protein GI | 47933397 |
| UniProt ID | P48449 |
| mRNA ID | NM_001001438 |
| Length | 732 |
| RefSeq Status | REVIEWED |
| Protein sequence is identical to GI:47933395 (mRNA isoform) | |
| lanosterol synthase isoform 2 | |
|---|---|
| Refseq ID | NP_001138908 |
| Protein GI | 47933397 |
| UniProt ID | P48449 |
| mRNA ID | NM_001145436 |
| Length | 732 |
| RefSeq Status | REVIEWED |
| Protein sequence is identical to GI:47933395 (mRNA isoform) | |
| lanosterol synthase isoform 3 | |
|---|---|
| Refseq ID | NP_001138909 |
| Protein GI | 224177558 |
| UniProt ID | P48449 |
| mRNA ID | NM_001145437 |
| Length | 652 |
| RefSeq Status | REVIEWED |
| MTFYVGLQAEDGHWTGDYGGPLFLLPGLLITCHVARIPLPAGYREEIVRYLRSVQLPDGGWGLHIEDKSTVFGTALNYVSLRILGVGPDDPDLVRARNILHKKGGAVAIPSWGKFWLAVLNVYSWEGLNTLFPEMWLFPDWAPAHPSTLWCHCRQVYLPMSYCYAVRLSAAEDPLVQSLRQELYVEDFASIDWLAQRNNVAPDELYTPHSWLLRVVYALLNLYEHHHSAHLRQRAVQKLYEHIVADDRFTKSISIGPISKTINMLVRWYVDGPASTAFQEHVSRIPDYLWMGLDGMKMQGTNGSQIWDTAFAIQALLEAGGHHRPEFSSCLQKAHEFLRLSQVPDNPPDYQKYYRQMRKGGFSFSTLDCGWIVSDCTAEALKAVLLLQEKCPHVTEHIPRERLCDAVAVLLNMRNPDGGFATYETKRGGHLLELLNPSEVFGDIMIDYTYVECTSAVMQALKYFHKRFPEHRAAEIRETLTQGLEFCRRQQRADGSWEGSWGVCFTYGTWFGLEAFACMGQTYRDGTACAEVSRACDFLLSRQMADGGWGEDFESCEERRYLQSAQSQIHNTCWAMMGLMAVRHPDIEAQERGVRCLLEKQLPNGDWPQENIAGVFNKSCAISYTSYRNIFPIWALGRFSQLYPERALAGHP | |
Gene Information
Entrez Gene ID
Gene Name
lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)
Gene Symbol
Species
Homo sapiens
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0005789 | TAS:Reactome | C | endoplasmic reticulum membrane |
| GO:0005811 | IDA:UniProtKB | C | lipid particle |
| GO:0016020 | IDA:UniProtKB | C | membrane |
| GO:0000250 | TAS:ProtInc | F | lanosterol synthase activity |
| GO:0006695 | IMP:BHF-UCL | P | cholesterol biosynthetic process |
| GO:0044281 | TAS:Reactome | P | small molecule metabolic process |
| GO:0008202 | TAS:ProtInc | P | steroid metabolic process |
REACTOME Pathway Links
| REACTOME Pathway ID | Description |
|---|---|
| REACT_147904 | Activation of gene expression by SREBF (SREBP) |
Domain Information
UniProt Annotations
Entry Information
Gene Name
lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)
Protein Entry
ERG7_HUMAN
UniProt ID
Species
Human
Comments
| Comment Type | Description |
|---|---|
| Alternative Products | Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P48449-1; Sequence=Displayed; Name=2; IsoId=P48449-2; Sequence=VSP_045407; Note=No experimental confirmation available.; Name=3; IsoId=P48449-3; Sequence=VSP_046188; Note=No experimental confirmation available.; |
| Catalytic Activity | (3S)-2,3-epoxy-2,3-dihydrosqualene = lanosterol. {ECO |
| Function | Catalyzes the cyclization of (S)-2,3 oxidosqualene to lanosterol, a reaction that forms the sterol nucleus. |
| Pathway | Terpene metabolism; lanosterol biosynthesis; lanosterol from farnesyl diphosphate: step 3/3. |
| Similarity | Belongs to the terpene cyclase/mutase family. |
| Similarity | Contains 4 PFTB repeats. |
| Subcellular Location | Endoplasmic reticulum membrane ; Peripheral membrane protein {ECO |
| Subunit | Monomer. |
Identical and Related Proteins
Unique RefSeq proteins for LMP001087 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 47933395 | RefSeq | NP_002331 | 732 | lanosterol synthase isoform 1 |
| 224177558 | RefSeq | NP_001138909 | 652 | lanosterol synthase isoform 3 |
Identical Sequences to LMP001087 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:224177558 | GenBank | EAX09303.1 | 652 | lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase), isoform CRA_c [Homo sapiens] |
| GI:47933395 | GenBank | AEH74443.1 | 732 | Sequence 58 from patent US 7955805 |
| GI:47933395 | GenBank | AGY09212.1 | 732 | Sequence 98546 from patent US 8541208 |
| GI:47933395 | GenBank | AGY09318.1 | 732 | Sequence 98749 from patent US 8541208 |
| GI:47933395 | GenBank | AHD73105.1 | 732 | Sequence 10173 from patent US 8586006 |
| GI:47933395 | GenBank | AHD73106.1 | 732 | Sequence 10174 from patent US 8586006 |
| GI:47933395 | RefSeq | XP_006724066.1 | 732 | PREDICTED: lanosterol synthase isoform X1 [Homo sapiens] |
Related Sequences to LMP001087 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:47933395 | DBBJ | BAG35391.1 | 732 | unnamed protein product [Homo sapiens] |
| GI:224177558 | EMBL | CBV30957.1 | 732 | unnamed protein product [Homo sapiens] |
| GI:224177558 | EMBL | CBV31050.1 | 732 | unnamed protein product [Homo sapiens] |
| GI:47933395 | GenBank | AAH35638.1 | 732 | Lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) [Homo sapiens] |
| GI:224177558 | GenBank | AAV00414.1 | 732 | Sequence 4 from patent US 6737261 |
| GI:224177558 | GenBank | EAX09301.1 | 732 | lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase), isoform CRA_a [Homo sapiens] |
| GI:224177558 | GenBank | EAX09302.1 | 732 | lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase), isoform CRA_a [Homo sapiens] |
| GI:47933395 | GenBank | ABM82160.1 | 732 | lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) [synthetic construct] |
| GI:47933395 | GenBank | ABM85344.1 | 732 | lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase), partial [synthetic construct] |
| GI:224177558 | GenBank | AEH74443.1 | 732 | Sequence 58 from patent US 7955805 |
| GI:47933395 | GenBank | AIC54715.1 | 732 | LSS, partial [synthetic construct] |
| GI:47933395 | PDB | 1W6K | 732 | Chain A, Structure Of Human Osc In Complex With Lanosterol |