Family

Exostosin-1 (IPR027670)

Short name: Exostosin-1

Family relationships

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 [PMID: 11518722]. Exostosin-1 (EXT1) is a glycosyltransferase required for the biosynthesis of heparan-sulfate [PMID: 9620772]. Hereditary multiple exostoses, a genetic disorder characterised by multiple cartilaginous tumors, is caused by mutations in members of the EXT gene family, EXT1 or EXT2. EXT1 and EXT2 form a hetero-oligomeric complex that leads to the accumulation of both proteins in the Golgi apparatus [PMID: 10639137].

GO terms

Biological Process

GO:0015012 heparan sulfate proteoglycan biosynthetic process

Molecular Function

GO:0015020 glucuronosyltransferase activity

Cellular Component

GO:0005783 endoplasmic reticulum
GO:0016021 integral component of membrane

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER