Gene Symbol | EXT1 |
---|---|
Entrez Gene | 2131 |
Alt Symbol | EXT, LGCR, LGS, TRPS2, TTV |
Species | Human |
Gene Type | protein-coding |
Description | exostosin glycosyltransferase 1 |
Other Description | Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase|Langer-Giedion syndrome chromosome region|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase|exostoses (multiple) 1|exostosin 1|exostosin-1|glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase|multiple exostoses protein 1|putative tumor suppressor protein EXT1 |
Swissprots | Q16394 B2R7V2 Q9BVI9 |
Accessions | AAC51154 ADI56520 AGT15863 AGV77097 AHB20150 EAW91972 Q16394 AK130054 AK313129 BAG35949 BC001174 AAH01174 DQ891868 ABM82794 DQ895056 ABM85982 S79639 AAB62283 NM_000127 NP_000118 |
Function | Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. {ECO:0000269|PubMed:11518722}. |
Subcellular Location | Endoplasmic reticulum membrane {ECO:0000269|PubMed:10679296}; Single-pass type II membrane protein {ECO:0000269|PubMed:10679296}. Golgi apparatus membrane {ECO:0000269|PubMed:10679296}; Single-pass type II membrane protein {ECO:0000269|PubMed:10679296}. Note=The EXT1/EXT2 complex is localized in the Golgi apparatus. |
Tissue Specificity | Ubiquitous. |
Top Pathways | Glycosaminoglycan biosynthesis - heparan sulfate / heparin |