Description

IPR040911 is a Exostosin, GT47 domain.

<p>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 [[cite:PUB00066948]]. 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 [[cite:PUB00007458]]. 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 [[cite:PUB00007459]].</p> <p>In addition to a b-glucuronyltransferase domain, exostosins contain an additional alpha 1,4-N-acetylglucosaminyltransferase domain that belongs to family GT64 [[cite:PUB00007459], [cite:PUB00091344]]. 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 exostosin b-glucuronyltransferase domain and therefore are grouped into family GT47 [[cite:PUB00091345]]. This entry represents the GT47 domain of exostosins.</p>

This description is obtained from EB-eye REST.

Associated GO terms

Unable to find any GO terms for the transcript with the identifier.

Associated Lotus transcripts 72

Co-occuring domains 1

A list of co-occurring predicted domains within the L. japonicus gene space: