ID:EXT1_HUMAN DESCRIPTION: RecName: Full=Exostosin-1; EC=2.4.1.224; EC=2.4.1.225; AltName: Full=Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; AltName: Full=Multiple exostoses protein 1; AltName: Full=Putative tumor suppressor protein EXT1; 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. CATALYTIC ACTIVITY: UDP-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. CATALYTIC ACTIVITY: UDP-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. PATHWAY: Protein modification; protein glycosylation. SUBUNIT: Forms a homo/hetero-oligomeric complex with EXT2. SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass type II membrane protein. Golgi apparatus membrane; Single-pass type II membrane protein. Note=The EXT1/EXT2 complex is localized in the Golgi apparatus. TISSUE SPECIFICITY: Ubiquitous. DISEASE: Defects in EXT1 are a cause of hereditary multiple exostoses type 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. DISEASE: Defects in EXT1 are a cause of tricho-rhino-phalangeal syndrome type 2 (TRPS2) [MIM:150230]. A syndrome that combines the clinical features of trichorhinophalangeal 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=A chromosomal aberration resulting in the loss of functional copies of TRPS1 and EXT1 has been found in TRPS2 patients. DISEASE: Defects in EXT1 are a cause of chondrosarcoma (CHDSA) [MIM:215300]. It is a malignant neoplasm derived from cartilage cells. Chondrosarcomas range from slow-growing non-metastasizing lesions to highly aggressive metastasizing sarcomas. SIMILARITY: Belongs to the glycosyltransferase 47 family. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/EXT1ID212.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EXT1"; WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q16394
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0008375 acetylglucosaminyltransferase activity GO:0015020 glucuronosyltransferase activity GO:0016740 transferase activity GO:0016757 transferase activity, transferring glycosyl groups GO:0042328 heparan sulfate N-acetylglucosaminyltransferase activity GO:0042803 protein homodimerization activity GO:0046872 metal ion binding 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: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:0033692 cellular polysaccharide biosynthetic process GO:0072498 embryonic skeletal joint development
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
