InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: EXT1

Summary

InnateDB Protein

IDBP-33536.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

EXT1

Protein Name

exostosin 1

Synonyms

EXT; LGCR; LGS; TRPS2; TTV;

Species

Homo sapiens

Ensembl Protein

ENSP00000367446

InnateDB Gene

IDBG-33534 (EXT1)

Protein Structure

UniProt Annotation

Function

Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. {ECO:0000269PubMed:11518722}.

Subcellular Localization

Endoplasmic reticulum membrane {ECO:0000269PubMed:10679296}; Single-pass type II membrane protein {ECO:0000269PubMed:10679296}. Golgi apparatus membrane {ECO:0000269PubMed:10679296}; Single-pass type II membrane protein {ECO:0000269PubMed:10679296}. Note=The EXT1/EXT2 complex is localized in the Golgi apparatus.

Disease Associations

Hereditary multiple exostoses 1 (EXT1) [MIM:133700]: EXT is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal disorder primarily affecting endochondral bone during growth. The disease is characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or osteochondromas) that are often accompanied by skeletal deformities and short stature. In a small percentage of cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma. Osteochondromas development can also occur as a sporadic event. {ECO:0000269PubMed:10441575, ECO:0000269PubMed:10480354, ECO:0000269PubMed:11169766, ECO:0000269PubMed:8981950, ECO:0000269PubMed:9326317, ECO:0000269PubMed:9463333, ECO:0000269PubMed:9521425, ECO:0000269Ref.9}. Note=The disease is caused by mutations affecting the gene represented in this entry.Tricho-rhino-phalangeal syndrome 2 (TRPS2) [MIM:150230]: A syndrome that combines the clinical features of tricho-rhino- phalangeal syndrome type 1 and multiple exostoses type 1. Affected individuals manifest multiple dysmorphic facial features including large, laterally protruding ears, a bulbous nose, an elongated upper lip, as well as sparse scalp hair, winged scapulae, multiple cartilaginous exostoses, redundant skin, and mental retardation. Note=The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration resulting in the loss of functional copies of TRPS1 and EXT1 has been found in TRPS2 patients.Chondrosarcoma (CHDSA) [MIM:215300]: A malignant neoplasm derived from cartilage cells. Chondrosarcomas range from slow- growing non-metastasizing lesions to highly aggressive metastasizing sarcomas. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.

Experimentally validated
Total	6 [view]
Protein-Protein	5 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0008375	acetylglucosaminyltransferase activity
GO:0015020	glucuronosyltransferase activity
GO:0016757	transferase activity, transferring glycosyl groups
GO:0016758	transferase activity, transferring hexosyl groups
GO:0042328	heparan sulfate N-acetylglucosaminyltransferase activity
GO:0042803	protein homodimerization activity
GO:0046982	protein heterodimerization activity
GO:0050508	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity
GO:0050509	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity

Biological Process

GO:0001501	skeletal system development
GO:0001503	ossification
GO:0005975	carbohydrate metabolic process
GO:0006024	glycosaminoglycan biosynthetic process
GO:0006486	protein glycosylation
GO:0007165	signal transduction
GO:0007369	gastrulation
GO:0007411	axon guidance
GO:0007420	brain development
GO:0007492	endoderm development
GO:0007498	mesoderm development
GO:0015012	heparan sulfate proteoglycan biosynthetic process
GO:0015014	heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process
GO:0021772	olfactory bulb development
GO:0030203	glycosaminoglycan metabolic process
GO:0033692	cellular polysaccharide biosynthetic process
GO:0044281	small molecule metabolic process
GO:0072498	embryonic skeletal joint development

Cellular Component

GO:0000139	Golgi membrane
GO:0005783	endoplasmic reticulum
GO:0005789	endoplasmic reticulum membrane
GO:0005794	Golgi apparatus
GO:0016021	integral component of membrane
GO:0030176	integral component of endoplasmic reticulum membrane
GO:0031227	intrinsic component of endoplasmic reticulum membrane