EXT1 Gene Summary [Human]
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, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | EXT1 |
| Official Name | exostosin glycosyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:3512] |
| Ensembl ID | ENSG00000182197 |
| Bio databases IDs | |
| Aliases | exostosin glycosyltransferase 1, Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase, N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase |
| Synonyms | AP003476.1, Exostoses (multiple) 1, exostosin glycosyltransferase 1, EXT, LGCR, LGS, TRPS2, TTV |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human EXT1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Exostosin family
- N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase
- glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
- ribitol-5-phosphate xylosyltransferase 1, and related proteins
- Glycosyl transferase family 64 domain
- protein homodimerization
- enzyme
- protein binding
- glucuronosyl-N-acetylglucosaminyl-proteoglycan
- glycosyltransferase
- protein heterodimerization
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- atrial fibrillation
- cancer
- ovarian cancer
- neoplasia
- multiple hereditary exostoses
- insulin resistance
- multiple exostoses type I
- insomnia
- metastasis
- impaired glucose tolerance
role in cell
- proliferation
- phosphorylation in
- migration
- activation
- expression in
- growth
- differentiation
- organization
- adhesion
- guidance
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Golgi Apparatus
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
- Golgi membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EXT1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- epithelial tube branching involved in lung morphogenesis
- heart contraction
- endoderm development
- developmental growth involved in morphogenesis
- mesoderm development
- protein glycosylation
- fibroblast growth factor receptor signaling pathway
- axon guidance
- optic nerve development
- wound healing
- heart field specification
- bone resorption
- ossification
- BMP signaling pathway
- antigen processing and presentation
- sulfation
- stem cell division
- sweat gland development
- macromolecular complex assembly
- neural crest cell differentiation
- cartilage development involved in endochondral bone morphogenesis
- response to light intensity
- lymphocyte migration into lymphoid organs
- glomerular basement membrane development
- hypersensitivity
- chondrocyte hypertrophy
- endochondral bone growth
- polysaccharide biosynthetic process
- embryonic skeletal joint development
- dendrite self-avoidance
- hair follicle morphogenesis
- chondrocyte proliferation
- gene expression
- endochondral ossification
- heparin biosynthetic process
- multicellular organism growth
- heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process
- heparan sulfate proteoglycan biosynthetic process
- vacuole organization
- sodium ion homeostasis
- glycosaminoglycan biosynthetic process
- fear response
- sebaceous gland development
- smoothened signaling pathway involved in lung development
- vasodilation
- glandular epithelial cell differentiation
- olfactory bulb development
- multicellular organismal water homeostasis
- canonical Wnt receptor signaling pathway
- basement membrane organization
- chondroitin sulfate metabolic process
- social behavior
- protein catabolic process
- limb joint morphogenesis
- fluid transport
- hemopoietic stem cell differentiation
- regulation of blood pressure
- hematopoietic stem cell migration to bone marrow
- ossification involved in bone maturation
- gastrulation
- cell adhesion mediated by integrin
- blood vessel remodeling
- glomerular visceral epithelial cell differentiation
- regulation of tumor necrosis factor-mediated signaling pathway
- cell fate commitment
- collagen fibril organization
- leukocyte tethering or rolling
- response to heparin
- synaptic transmission, glutamatergic
- vocalization behavior
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- Golgi apparatus
- Golgi membrane
- endoplasmic reticulum
- synapse
Molecular Function
What the gene product does at the molecular level
- heparan sulfate N-acetylglucosaminyltransferase activity
- protein homodimerization activity
- protein binding
- acetylglucosaminyltransferase activity
- metal ion binding
- protein heterodimerization activity
- glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity
- N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity
- glucuronosyltransferase activity