Sequence of EXT1_HUMAN

glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase

Q16394

746

86255

159738

Ahn J.,Luedecke H.-J.,Lindow S.,Horton W.A.,Lee B.,Wagner M.J.,Horsthemke B.,Wells D.E.

Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1).

Nat. Genet.

11

137-143

1995

159739

Ota T.,Suzuki Y.,Nishikawa T.,Otsuki T.,Sugiyama T.,Irie R.,Wakamatsu A.,Hayashi K.,Sato H.,Nagai K.,Kimura K.,Makita H.,Sekine M.,Obayashi M.,Nishi T.,Shibahara T.,Tanaka T.,Ishii S.,Yamamoto J.,Saito K.,Kawai Y.,Isono Y.,Nakamura Y.,Nagahari K.,Murakami K.,Yasuda T.,Iwayanagi T.,Wagatsuma M.,Shiratori A.,Sudo H.,Hosoiri T.,Kaku Y.,Kodaira H.,Kondo H.,Sugawara M.,Takahashi M.,Kanda K.,Yokoi T.,Furuya T.,Kikkawa E.,Omura Y.,Abe K.,Kamihara K.,Katsuta N.,Sato K.,Tanikawa M.,Yamazaki M.,Ninomiya K.,Ishibashi T.,Yamashita H.,Murakawa K.,Fujimori K.,Tanai H.,Kimata M.,Watanabe M.,Hiraoka S.,Chiba Y.,Ishida S.,Ono Y.,Takiguchi S.,Watanabe S.,Yosida M.,Hotuta T.,Kusano J.,Kanehori K.,Takahashi-Fujii A.,Hara H.,Tanase T.-O.,Nomura Y.,Togiya S.,Komai F.,Hara R.,Takeuchi K.,Arita M.,Imose N.,Musashino K.,Yuuki H.,Oshima A.,Sasaki N.,Aotsuka S.,Yoshikawa Y.,Matsunawa H.,Ichihara T.,Shiohata N.,Sano S.,Moriya S.,Momiyama H.,Satoh N.,Takami S.,Terashima Y.,Suzuki O.,Nakagawa S.,Senoh A.,Mizoguchi H.,Goto Y.,Shimizu F.,Wakebe H.,Hishigaki H.,Watanabe T.,Sugiyama A.,Takemoto M.,Kawakami B.,Yamazaki M.,Watanabe K.,Kumagai A.,Itakura S.,Fukuzumi Y.,Fujimori Y.,Komiyama M.,Tashiro H.,Tanigami A.,Fujiwara T.,Ono T.,Yamada K.,Fujii Y.,Ozaki K.,Hirao M.,Ohmori Y.,Kawabata A.,Hikiji T.,Kobatake N.,Inagaki H.,Ikema Y.,Okamoto S.,Okitani R.,Kawakami T.,Noguchi S.,Itoh T.,Shigeta K.,Senba T.,Matsumura K.,Nakajima Y.,Mizuno T.,Morinaga M.,Sasaki M.,Togashi T.,Oyama M.,Hata H.,Watanabe M.,Komatsu T.,Mizushima-Sugano J.,Satoh T.,Shirai Y.,Takahashi Y.,Nakagawa K.,Okumura K.,Nagase T.,Nomura N.,Kikuchi H.,Masuho Y.,Yamashita R.,Nakai K.,Yada T.,Nakamura Y.,Ohara O.,Isogai T.,Sugano S.

Complete sequencing and characterization of 21,243 full-length human cDNAs.

Nat. Genet.

36

40-45

2004

159741

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

Genome Res.

14

2121-2127

2004

159742

Luedecke H.-J.,Ahn J.,Lin X.,Hill A.,Wagner M.J.,Schomburg L.,Horsthemke B.,Wells D.E.

Genomic organization and promoter structure of the human EXT1 gene.

Genomics

40

351-354

1997

159743

Kobayashi S.,Morimoto K.,Shimizu T.,Takahashi M.,Kurosawa H.,Shirasawa T.

Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus.

Biochem. Biophys. Res. Commun.

268

860-867

2000

159744

Duncan G.,McCormick C.,Tufaro F.

The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins.

J. Clin. Invest.

108

511-516

2001

159745

Baietti M.F.,Zhang Z.,Mortier E.,Melchior A.,Degeest G.,Geeraerts A.,Ivarsson Y.,Depoortere F.,Coomans C.,Vermeiren E.,Zimmermann P.,David G.

Syndecan-syntenin-ALIX regulates the biogenesis of exosomes.

Nat. Cell Biol.

14

677-685

2012

159746

Missaghian P.,Dierker T.,Khosrowabadi E.,Axling F.,Eriksson I.,Ghanem A.,Kusche-Gullberg M.,Kellokumpu S.,Kjellen L.

A dominant negative splice variant of the heparan sulfate biosynthesis enzyme NDST1 reduces heparan sulfate sulfation.

Glycobiology

0

0-0

2022

159747

Wuyts W.,Van Hul W.

Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes.

Hum. Mutat.

15

220-227

2000

159749

Hecht J.T.,Hogue D.A.,Wang Y.,Blanton S.H.,Wagner M.J.,Strong L.C.,Raskind W.H.,Hansen M.F.,Wells D.E.

Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies.

Am. J. Hum. Genet.

60

80-86

1997

159750

Philippe C.,Porter D.E.,Emerton M.E.,Wells D.E.,Simpson A.H.R.W.,Monaco A.P.

Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses.

Am. J. Hum. Genet.

61

520-528

1997

159751

Wuyts W.,van Hul W.,de Boulle K.,Hendrickx J.,Bakker E.,Vanhoenacker F.,Mollica F.,Luedecke H.-J.,Sayli B.S.,Pazzaglia U.E.,Mortier G.,Hamel B.C.J.,Conrad E.U. III,Matsushita M.,Raskind W.H.,Willems P.J.

Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.

Am. J. Hum. Genet.

62

346-354

1998

159752

Raskind W.H.,Conrad E.U. III,Matsushita M.,Wijsman E.M.,Wells D.E.,Chapman N.,Sandell L.J.,Wagner M.J.,Houck J.

Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses.

Hum. Mutat.

11

231-239

1998

159753

Bovee J.V.M.G.,Cleton-Jansen A.-M.,Wuyts W.,Caethoven G.,Taminiau A.H.M.,Bakker E.,van Hul W.,Cornelisse C.J.,Hogendoorn P.C.W.

EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas.

Am. J. Hum. Genet.

65

689-698

1999

159754

Xu L.,Xia J.,Jiang H.,Zhou J.,Li H.,Wang D.,Pan Q.,Long Z.,Fan C.,Deng H.-X.

Mutation analysis of hereditary multiple exostoses in the Chinese.

Hum. Genet.

105

45-50

1999

159755

Bernard M.A.,Hall C.E.,Hogue D.A.,Cole W.G.,Scott A.,Snuggs M.B.,Clines G.A.,Luedecke H.-J.,Lovett M.,Van Winkle W.B.,Hecht J.T.

Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes.

Cell Motil. Cytoskeleton

48

149-162

2001

159756

Cheung P.K.,McCormick C.,Crawford B.E.,Esko J.D.,Tufaro F.,Duncan G.

Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity.

Am. J. Hum. Genet.

69

55-66

2001