EXT1

This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq]

exostosin 1

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. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).

Antigen processing and presentation Source: Ensembl
Axon guidance Source: Ensembl
Basement membrane organization Source: Ensembl
Blood vessel remodeling Source: Ensembl
BMP signaling pathway Source: Ensembl
Bone resorption Source: Ensembl
Canonical Wnt signaling pathway Source: Ensembl
Cartilage development involved in endochondral bone morphogenesis Source: Ensembl
Cell adhesion mediated by integrin Source: Ensembl
Cell fate commitment Source: Ensembl
Cellular polysaccharide biosynthetic process Source: BHF-UCL
Cellular response to virus Source: Ensembl
Chondrocyte hypertrophy Source: Ensembl
Chondrocyte proliferation Source: Ensembl
Chondroitin sulfate metabolic process Source: Ensembl
Collagen fibril organization Source: Ensembl
Cranial skeletal system development Source: Ensembl
Dendrite self-avoidance Source: Ensembl
Dendritic cell migration Source: Ensembl
Developmental growth involved in morphogenesis Source: Ensembl
Embryonic skeletal joint development Source: Ensembl
Endochondral bone growth Source: Ensembl
Endochondral ossification Source: Ensembl
Endoderm development Source: Ensembl
Epithelial tube branching involved in lung morphogenesis Source: Ensembl
Fear response Source: Ensembl
Fibroblast growth factor receptor signaling pathway Source: Ensembl
Fluid transport Source: Ensembl
Gastrulation Source: Ensembl
Gene expression Source: Ensembl
Glandular epithelial cell differentiation Source: Ensembl
Glomerular basement membrane development Source: Ensembl
Glomerular visceral epithelial cell differentiation Source: Ensembl
Glycosaminoglycan biosynthetic process Source: BHF-UCL
Hair follicle morphogenesis Source: Ensembl
Heart contraction Source: Ensembl
Heart field specification Source: Ensembl
Hematopoietic stem cell differentiation Source: Ensembl
Hematopoietic stem cell homeostasis Source: Ensembl
Hematopoietic stem cell migration to bone marrow Source: Ensembl
Heparan sulfate proteoglycan biosynthetic process Source: BHF-UCL
Heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Source: BHF-UCL
Heparin biosynthetic process Source: Ensembl
Hypersensitivity Source: Ensembl
Leukocyte tethering or rolling Source: Ensembl
Limb joint morphogenesis Source: Ensembl
Lymphocyte adhesion to endothelial cell of high endothelial venule Source: Ensembl
Lymphocyte migration into lymphoid organs Source: Ensembl
Mesenchymal cell differentiation involved in bone development Source: Ensembl
Mesoderm development Source: Ensembl
Motor behavior Source: Ensembl
Multicellular organismal water homeostasis Source: Ensembl
Multicellular organism growth Source: Ensembl
Neural crest cell differentiation Source: Ensembl
Olfactory bulb development Source: Ensembl
Optic nerve development Source: Ensembl
Ossification Source: BHF-UCL
Ossification involved in bone maturation Source: Ensembl
Perichondral bone morphogenesis Source: Ensembl
Protein catabolic process Source: Ensembl
Protein-containing complex assembly Source: Ensembl
Protein glycosylation Source: UniProtKB-UniPathway
Regulation of blood pressure Source: Ensembl
Response to heparin Source: Ensembl
Response to leukemia inhibitory factor Source: Ensembl
Response to light intensity Source: Ensembl
Sebaceous gland development Source: Ensembl
Signal transduction Source: ProtInc
Skeletal system development Source: ProtInc
Smoothened signaling pathway involved in lung development Source: Ensembl
Social behavior Source: Ensembl
Sodium ion homeostasis Source: Ensembl
Stem cell division Source: Ensembl
Stomach development Source: Ensembl
Sulfation Source: Ensembl
Sweat gland development Source: Ensembl
Synaptic transmission, glutamatergic Source: Ensembl
Tight junction organization Source: Ensembl
TNFSF11-mediated signaling pathway Source: Ensembl
Vacuole organization Source: Ensembl
Vasodilation Source: Ensembl
Vocalization behavior Source: Ensembl
Wound healing Source: Ensembl

Golgi apparatus membrane; Endoplasmic reticulum membrane. The EXT1/EXT2 complex is localized in the Golgi apparatus.

Hereditary multiple exostoses 1 (EXT1):
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.
Tricho-rhino-phalangeal syndrome 2 (TRPS2):
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. 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.
Chondrosarcoma (CHDSA):
A malignant neoplasm derived from cartilage cells. Chondrosarcomas range from slow-growing non-metastasizing lesions to highly aggressive metastasizing sarcomas.

Cytoplasmic: 1-7
Helical: 8-28
Lumenal: 29-746