Family

Exostosin-1 (IPR027670)

Short name: Exostosin-1

Overlapping homologous superfamilies

None.

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