| 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
|
![Western Blot: Exostosin 1 Overexpression Lysate (Adult Normal) [NBL1-10391] Left-Empty vector transfected control cell lysate (HEK293 cell lysate); Right -Over-expression Lysate for Exostosin 1.](http://www.bioprodhub.com/system/product_images/cel_products/5/sub_1/8185_Exostosin%25201%2520Overexpression%2520Lysate%2520%2528Adult%2520Normal%2529-Western%2520Blot-NBL1-10391-img0002.jpg)
![Western Blot: Exostosin 1 Overexpression Lysate (Adult Normal) [NBL1-10393] Left-Empty vector transfected control cell lysate (HEK293 cell lysate); Right -Over-expression Lysate for Exostosin 1.](http://www.bioprodhub.com/system/product_images/cel_products/5/sub_2/4554_Exostosin%25201%2520Overexpression%2520Lysate%2520(Adult%2520Normal)-Western%2520Blot-NBL1-10393-img0002.jpg)