Type |
Details |
Score |
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
746
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
746
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Mooij HL |
Year: |
2015 |
Journal: |
J Lipid Res |
Title: |
Ext1 heterozygosity causes a modest effect on postprandial lipid clearance in humans. |
Volume: |
56 |
Issue: |
3 |
Pages: |
665-73 |
|
•
•
•
•
•
|
Publication |
First Author: |
de Andrea CE |
Year: |
2015 |
Journal: |
J Pathol |
Title: |
Cell cycle deregulation and mosaic loss of Ext1 drive peripheral chondrosarcomagenesis in the mouse and reveal an intrinsic cilia deficiency. |
Volume: |
236 |
Issue: |
2 |
Pages: |
210-8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yamada S |
Year: |
2004 |
Journal: |
J Biol Chem |
Title: |
Embryonic fibroblasts with a gene trap mutation in Ext1 produce short heparan sulfate chains. |
Volume: |
279 |
Issue: |
31 |
Pages: |
32134-41 |
|
•
•
•
•
•
|
Publication |
First Author: |
Jones KB |
Year: |
2013 |
Journal: |
J Orthop Res |
Title: |
Toward an understanding of the short bone phenotype associated with multiple osteochondromas. |
Volume: |
31 |
Issue: |
4 |
Pages: |
651-7 |
|
•
•
•
•
•
|
Publication |
First Author: |
Deligny A |
Year: |
2016 |
Journal: |
J Biol Chem |
Title: |
NDST2 (N-Deacetylase/N-Sulfotransferase-2) Enzyme Regulates Heparan Sulfate Chain Length. |
Volume: |
291 |
Issue: |
36 |
Pages: |
18600-18607 |
|
•
•
•
•
•
|
Publication |
First Author: |
Hecht JT |
Year: |
1997 |
Journal: |
Am J Hum Genet |
Title: |
Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. |
Volume: |
60 |
Issue: |
1 |
Pages: |
80-6 |
|
•
•
•
•
•
|
Publication |
First Author: |
Jochmann K |
Year: |
2014 |
Journal: |
Matrix Biol |
Title: |
Heparan sulfate as a regulator of endochondral ossification and osteochondroma development. |
Volume: |
34 |
|
Pages: |
55-63 |
|
•
•
•
•
•
|
Publication |
First Author: |
Jochmann K |
Year: |
2014 |
Journal: |
Matrix Biol |
Title: |
Reprint of: Heparan sulfate as a regulator of endochondral ossification and osteochondroma development. |
Volume: |
35 |
|
Pages: |
239-47 |
|
•
•
•
•
•
|
Publication |
First Author: |
Saito T |
Year: |
1998 |
Journal: |
Biochem Biophys Res Commun |
Title: |
Structure, chromosomal location, and expression profile of EXTR1 and EXTR2, new members of the multiple exostoses gene family. |
Volume: |
243 |
Issue: |
1 |
Pages: |
61-6 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zhong R |
Year: |
2003 |
Journal: |
Trends Plant Sci |
Title: |
Unraveling the functions of glycosyltransferase family 47 in plants. |
Volume: |
8 |
Issue: |
12 |
Pages: |
565-8 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
There are five identified human EXT family proteins (EXT1, EXT2, EXTL1, EXTL2 and EXTL3), which are members of the hereditary multiple exostoses family of tumor suppressors []. They are glycosyltransferases required for the biosynthesis of heparan sulfate. Hereditary multiple exostoses (EXT) is an autosomal dominant disorder that is characterised by the appearance of multiple outgrowths of the long bones (exostoses) at their epiphyses []. Mutations in two homologous genes, EXT1 and EXT2, are responsible for the EXT syndrome. The human and mouse EXT genes have at least two homologues in the invertebrate Caenorhabditis elegans, indicating that they do not function exclusively as regulators of bone growth. EXT1 and EXT2 have both been shown to encode glycosyltransferases involved in the chain elongation step of heparan sulphate biosynthesis [].In addition to a b-glucuronyltransferase domain, exostosins contain anadditional alpha 1,4-N-acetylglucosaminyltransferase domain that belongs to family GT64 [, ]. Activities of both exostosin GT domains are required for synthesizing the backbone of glycosaminoglycan, heparan sulfate. In plants, many genes have been shown to encode proteins with significant sequence similarity to the exostosinb-glucuronyltransferase domain and therefore are grouped into family GT47 []. This entry represents the GT47 domain of exostosins. |
|
•
•
•
•
•
|
Publication |
First Author: |
Kawashima K |
Year: |
2020 |
Journal: |
Osteoarthritis Cartilage |
Title: |
Heparan sulfate deficiency leads to hypertrophic chondrocytes by increasing bone morphogenetic protein signaling. |
Volume: |
28 |
Issue: |
11 |
Pages: |
1459-1470 |
|
•
•
•
•
•
|
Publication |
First Author: |
Okada M |
Year: |
2010 |
Journal: |
Biochem J |
Title: |
Biosynthesis of heparan sulfate in EXT1-deficient cells. |
Volume: |
428 |
Issue: |
3 |
Pages: |
463-71 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
918
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
669
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
669
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
919
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
921
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
832
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
669
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
636
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
330
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
329
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
330
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
330
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
274
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
316
 |
Fragment?: |
false |
|
•
•
•
•
•
|