MGP Database

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MGP001000

UniProt Annotations

Entry Information
Gene Nameexostosin glycosyltransferase 1
Protein EntryEXT1_HUMAN
UniProt IDQ16394
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityUDP-alpha-D-glucuronate + N-acetyl-alpha-D- glucosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan = UDP + beta- D-glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-(1->4)-beta-D- glucuronosyl-proteoglycan.
Catalytic ActivityUDP-N-acetyl-D-glucosamine + beta-D- glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan = UDP + N-acetyl-alpha-D-glucosaminyl-(1->4)-beta-D-glucuronosyl- (1->4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan.
CofactorName=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence={ECO:0000250|UniProtKB:Q9ES89};
DiseaseChondrosarcoma (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.
DiseaseHereditary 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:0000269|PubMed:10441575, ECO:0000269|PubMed:10480354, ECO:0000269|PubMed:11169766, ECO:0000269|PubMed:8981950, ECO:0000269|PubMed:9326317, ECO:0000269|PubMed:9463333, ECO:0000269|PubMed:9521425, ECO:0000269|Ref.9}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseTricho-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.
FunctionGlycosyltransferase 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:0000269|PubMed:11518722}.
PathwayProtein modification; protein glycosylation.
SimilarityBelongs to the glycosyltransferase 47 family. {ECO:0000305}.
Subcellular LocationEndoplasmic reticulum membrane {ECO:0000269|PubMed:10679296}; Single-pass type II membrane protein {ECO:0000269|PubMed:10679296}. Golgi apparatus membrane {ECO:0000269|PubMed:10679296}; Single-pass type II membrane protein {ECO:0000269|PubMed:10679296}. Note=The EXT1/EXT2 complex is localized in the Golgi apparatus.
SubunitForms a homo/hetero-oligomeric complex with EXT2. {ECO:0000269|PubMed:10679296}.
Tissue SpecificityUbiquitous.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/EXT1ID212.html";
Web ResourceName=GGDB; Note=GlycoGene database; URL="http://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=EXT1";
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