exostosin-1; glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; tumor suppressor protein EXT1; multiple exostoses protein 1 (EXT1)
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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
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
More general terms
Additional terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q16394.html
- ↑ 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/
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=2131
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:2131
- OMIM: https://mirror.omim.org/entry/133700
- OMIM: https://mirror.omim.org/entry/150230
- OMIM: https://mirror.omim.org/entry/215300
- OMIM: https://mirror.omim.org/entry/608177
- UniProt: http://www.uniprot.org/uniprot/Q16394.html