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exostosin-1; glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; tumor suppressor protein EXT1; multiple exostoses protein 1 (EXT1)
Function:
- glycosyltransferase
- required for the biosynthesis of heparan-sulfate
- forms a homo/hetero-oligomeric complex with EXT2
- the EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone
- appears to be a tumor suppressor
- protein modification; protein glycosylation
Structure:
- belongs to the glycosyltransferase 47 family
Compartment:
- endoplasmic reticulum membrane
- single-pass type 2 membrane protein
- Golgi membrane
- the EXT1/EXT2 complex is localized in the Golgi
Expression: ubiquitous
Pathology:
- defects in EXT1 are a cause of hereditary multiple exostoses type 1
- defects in EXT1 are the cause of multiple exostoses observed in trichorhinophalangeal syndrome type 2
- defects in EXT1 may be a cause of chondrosarcoma
Related
exostosin-like protein
multiple hereditary exostosis
General
anti-oncoprotein (tumor suppressor protein)
glycoprotein
membrane protein
Properties
SIZE: entity length = 746 aa
MW = 86 kD
COMPARTMENT: golgi
endoplasmic reticulum
MOTIF: transmembrane domain {8-28}
N-glycosylation site {N89}
N-glycosylation site {N330}
Database Correlations
OMIM correlations
MORBIDMAP 608177
UniProt Q16394
PFAM correlations
Entrez Gene 2131
Kegg hsa:2131
ENZYME correlations
References
- UniProt :accession Q16394
- Atlas of Genetics & Cytogenetics in Oncology & Haematology
http://atlasgeneticsoncology.org/genes/EXT1ID212.html
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/EXT1
- GGDB; Note: glycogene database
http://riodb.ibase.aist.go.jp/rcmg/ggdb/