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lanosterol synthase

Summary

Gene Symbol

Aliases

OSC
Oxidosqualene-lanosterol cyclase

Organism

Homo sapiens (human)

External Links

NCBI Gene

4047

HGNC

6708

KEGG Gene ID

hsa:4047

PubChem

4047

Alliance of Genome Resources

HGNC:6708

Annotation

Keyword

3D-structure
Acetylation
Alternative splicing
Cataract
Direct protein sequencing
Disease variant
Endoplasmic reticulum
Hypotrichosis
Intellectual disability
Isomerase
Membrane
Reference proteome
Repeat
Steroid biosynthesis

Proteins

Displaying **all 2** entries
UniProt	Protein Name
P48449	2,3-epoxysqualene--lanosterol cyclase Oxidosqualene--lanosterol cyclase
B2R694

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 4** entries
GO Term	Evidence Code	PMID
cholesterol biosynthetic process	IBA IMP TAS	17186944
steroid biosynthetic process	IMP	26200341
regulation of protein stability	IMP	26200341
triterpenoid biosynthetic process	IEA

GO Hierarchy

biological process

metabolic process [inference]

biosynthetic process [inference]

cellular biosynthetic process [inference]

isoprenoid biosynthetic process [inference]

terpenoid biosynthetic process [inference]

triterpenoid biosynthetic process

small molecule biosynthetic process [inference]

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process

sterol biosynthetic process [inference]

cholesterol biosynthetic process

isoprenoid biosynthetic process [inference]

terpenoid biosynthetic process [inference]

triterpenoid biosynthetic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process

sterol biosynthetic process [inference]

cholesterol biosynthetic process

organic hydroxy compound biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

cellular metabolic process [inference]

cellular biosynthetic process [inference]

isoprenoid biosynthetic process [inference]

terpenoid biosynthetic process [inference]

triterpenoid biosynthetic process

cellular lipid metabolic process [inference]

isoprenoid metabolic process [inference]

terpenoid metabolic process [inference]

triterpenoid metabolic process [inference]

triterpenoid biosynthetic process

terpenoid biosynthetic process [inference]

triterpenoid biosynthetic process

isoprenoid biosynthetic process [inference]

terpenoid biosynthetic process [inference]

triterpenoid biosynthetic process

primary metabolic process [inference]

lipid metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process

sterol biosynthetic process [inference]

cholesterol biosynthetic process

sterol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol biosynthetic process

sterol biosynthetic process [inference]

cholesterol biosynthetic process

lipid biosynthetic process [inference]

steroid biosynthetic process

sterol biosynthetic process [inference]

cholesterol biosynthetic process

isoprenoid biosynthetic process [inference]

terpenoid biosynthetic process [inference]

triterpenoid biosynthetic process

cellular lipid metabolic process [inference]

isoprenoid metabolic process [inference]

terpenoid metabolic process [inference]

triterpenoid metabolic process [inference]

triterpenoid biosynthetic process

terpenoid biosynthetic process [inference]

triterpenoid biosynthetic process

isoprenoid biosynthetic process [inference]

terpenoid biosynthetic process [inference]

triterpenoid biosynthetic process

small molecule metabolic process [inference]

alcohol metabolic process [inference]

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

secondary alcohol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol biosynthetic process

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

small molecule biosynthetic process [inference]

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

organic substance metabolic process [inference]

lipid metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process

sterol biosynthetic process [inference]

cholesterol biosynthetic process

sterol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol biosynthetic process

sterol biosynthetic process [inference]

cholesterol biosynthetic process

lipid biosynthetic process [inference]

steroid biosynthetic process

sterol biosynthetic process [inference]

cholesterol biosynthetic process

isoprenoid biosynthetic process [inference]

terpenoid biosynthetic process [inference]

triterpenoid biosynthetic process

cellular lipid metabolic process [inference]

isoprenoid metabolic process [inference]

terpenoid metabolic process [inference]

triterpenoid metabolic process [inference]

triterpenoid biosynthetic process

terpenoid biosynthetic process [inference]

triterpenoid biosynthetic process

isoprenoid biosynthetic process [inference]

terpenoid biosynthetic process [inference]

triterpenoid biosynthetic process

organic cyclic compound metabolic process [inference]

steroid metabolic process [inference]

steroid biosynthetic process

sterol biosynthetic process [inference]

cholesterol biosynthetic process

sterol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol biosynthetic process

sterol biosynthetic process [inference]

cholesterol biosynthetic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process

sterol biosynthetic process [inference]

cholesterol biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

steroid biosynthetic process

sterol biosynthetic process [inference]

cholesterol biosynthetic process

isoprenoid biosynthetic process [inference]

terpenoid biosynthetic process [inference]

triterpenoid biosynthetic process

organic cyclic compound biosynthetic process [inference]

steroid biosynthetic process

sterol biosynthetic process [inference]

cholesterol biosynthetic process

organic hydroxy compound biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

organic hydroxy compound metabolic process [inference]

alcohol metabolic process [inference]

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

secondary alcohol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol biosynthetic process

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

sterol metabolic process [inference]

cholesterol metabolic process [inference]

cholesterol biosynthetic process

sterol biosynthetic process [inference]

cholesterol biosynthetic process

organic hydroxy compound biosynthetic process [inference]

sterol biosynthetic process [inference]

cholesterol biosynthetic process

alcohol biosynthetic process [inference]

secondary alcohol biosynthetic process [inference]

cholesterol biosynthetic process

cellular process [inference]

cellular metabolic process [inference]

cellular biosynthetic process [inference]

isoprenoid biosynthetic process [inference]

terpenoid biosynthetic process [inference]

triterpenoid biosynthetic process

cellular lipid metabolic process [inference]

isoprenoid metabolic process [inference]

terpenoid metabolic process [inference]

triterpenoid metabolic process [inference]

triterpenoid biosynthetic process

terpenoid biosynthetic process [inference]

triterpenoid biosynthetic process

isoprenoid biosynthetic process [inference]

terpenoid biosynthetic process [inference]

triterpenoid biosynthetic process

biological regulation [inference]

regulation of biological quality [inference]

regulation of protein stability

Displaying **all 3** entries
GO Term	Evidence Code	PMID
lipid droplet	IBA IDA	14741744 21498505
endoplasmic reticulum membrane	IDA TAS	30401459
membrane	HDA	19946888

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane

organelle membrane [inference]

endoplasmic reticulum membrane

organelle [inference]

non-membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

lipid droplet

intracellular organelle [inference]

intracellular non-membrane-bounded organelle [inference]

lipid droplet

Displaying **all 2** entries
GO Term	Evidence Code	PMID
lanosterol synthase activity	IBA IGI IMP TAS	26200341 7639730
protein binding	IPI	32296183

GO Hierarchy

molecular function

catalytic activity [inference]

isomerase activity [inference]

intramolecular transferase activity [inference]

oxidosqualene cyclase activity [inference]

lanosterol synthase activity

binding [inference]

protein binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000160285

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K01852

Name

lanosterol synthase [EC:5.4.99.7]

References

Rhea

RHEA:14621

(S)-2,3-epoxysqualene

lanosterol

Enzyme

5.4.99.7

PMID

Disease

Disease Ontology

Displaying entries **41 - 50** of **119** in total

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DO ID	Disease Name	Source
DOID:0110254	cataract 25	DisGeNET
DOID:0110255	cataract 5 multiple types	DisGeNET
DOID:0110256	cataract 21 multiple types	DisGeNET
DOID:0110257	cataract 24	DisGeNET
DOID:0110258	cataract 10 multiple types	DisGeNET
DOID:0110259	cataract 43	DisGeNET
DOID:0110260	cataract 7	DisGeNET
DOID:0110261	cataract 35	DisGeNET
DOID:0110262	cataract 45	DisGeNET
DOID:0110263	cataract 19 multiple types	DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of 52 in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000047	Hypospadias
HP:0000054	Micropenis
HP:0000252	Microcephaly
HP:0000365	Hearing impairment
HP:0000400	Macrotia
HP:0000505	Visual impairment
HP:0000518	Cataract
HP:0000519	Developmental cataract
HP:0000572	Visual loss

Displaying **all 6** entries
Disease ID	Disease Name
OMIM:618840	alopecia-intellectual disability syndrome 4
OMIM:618275	hypotrichosis 14
OMIM:616509	cataract 44
ORPHA:2850	alopecia - intellectual disability syndrome
ORPHA:55654	hypotrichosis simplex
ORPHA:1366	autosomal recessive palmoplantar keratoderma and congenital alopecia

PubChem Disease

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP001087
Gene Name: lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)

Ortholog

Displaying entries **1 - 10** of 70 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Callorhinchus milii	103188931		CALMI40284
Latimeria chalumnae	102361349		LATCH12400
Danio rerio	795400	ZFIN:ZDB-GENE-050119-7	DANRE44509
Ictalurus punctatus	108266196		ICTPU30719
Electrophorus electricus	113567698		ELEEL48753
Salmo salar	106581851		SALSA79980
Salmo trutta	115156153		SALTR10297
Gadus morhua	115533383		GADMO29524
Oryzias latipes	101157258		ORYLA09683
Oryzias latipes	101157497		ORYLA09683

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements