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InterPro: IPR004263 Exostosin-like

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UniProtKB

Matches:

770 proteins

Overview:	sorted by AC,	sorted by name,	of known structure,	proteins with splice variants
Detailed:	sorted by AC,	sorted by name,	of known structure	proteins with splice variants
Table:	For all matching proteins,	of known structure
Architectures
Accession List
Matches in BioMart

Accession

IPR004263 Exostosin

Type

Family

Signatures Help

Database	ID	Name	Proteins
Pfam	PF03016	Exostosin	770
Signatures in BioMart

GO Term annotation Help

Component

GO:0016020 membrane

InterPro annotation

Entry Details in BioMart

Abstract

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 [1]. Mutations in two homologous genes, EXT1 and EXT2, are responsible for the EXT syndrome. The human and mouse EXT genes have at least two homologs 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 [2].

Database links Help

Enzyme: EC:2.4.1

PANDIT: PF03016

Blocks: IPB004263

Taxonomic coverage Help

Example proteins Help

O01704 Multiple exostoses homolog 1

O43909 Exostosin-like 3

P70428 Exostosin-2

Q7XJ98 Xyloglucan galactosyltransferase KATAMARI1

Q9V730 Exostosin-1

More proteins

Example Proteins Key

InterPro entry accession number/name and structure databases		Colour code
IPR015338	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase
IPR004263	Exostosin-like
	SWISS-MODEL
	ModBase

Publications Open in usermanual
1.	Saito T, Seki N, Yamauchi M, Tsuji S, Hayashi A, Kozuma S, Hori T. Structure, chromosomal location, and expression profile of EXTR1 and EXTR2, new members of the multiple exostoses gene family. Biochem. Biophys. Res. Commun. 243 61-6 1998 [PubMed: 9473480] http://dx.doi.org/10.1006/bbrc.1997.8062
2.	Lind T, Tufaro F, McCormick C, Lindahl U, Lidholt K. The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate. J. Biol. Chem. 273 26265-8 1998 [PubMed: 9756849] http://dx.doi.org/10.1074/jbc.273.41.26265

InterPro 23.1