Entity Details

Primary name EXT1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ16394
EntryNameEXT1_HUMAN
FullNameExostosin-1
TaxID9606
Evidenceevidence at protein level
Length746
SequenceStatuscomplete
DateCreated1997-11-01
DateModified2021-06-02

Ontological Relatives

GenesEXT1

GO terms

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GOName
GO:0000139 Golgi membrane
GO:0001501 skeletal system development
GO:0001503 ossification
GO:0001958 endochondral ossification
GO:0001974 blood vessel remodeling
GO:0002062 chondrocyte differentiation
GO:0002067 glandular epithelial cell differentiation
GO:0002524 hypersensitivity
GO:0003128 heart field specification
GO:0003416 endochondral bone growth
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0006024 glycosaminoglycan biosynthetic process
GO:0006486 protein glycosylation
GO:0007033 vacuole organization
GO:0007165 signal transduction
GO:0007369 gastrulation
GO:0007411 axon guidance
GO:0007492 endoderm development
GO:0007498 mesoderm development
GO:0008217 regulation of blood pressure
GO:0008375 acetylglucosaminyltransferase activity
GO:0008543 fibroblast growth factor receptor signaling pathway
GO:0009615 response to virus
GO:0009642 response to light intensity
GO:0010467 gene expression
GO:0014033 neural crest cell differentiation
GO:0015012 heparan sulfate proteoglycan biosynthetic process
GO:0015014 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process
GO:0015020 glucuronosyltransferase activity
GO:0016021 integral component of membrane
GO:0016757 glycosyltransferase activity
GO:0017145 stem cell division
GO:0019882 antigen processing and presentation
GO:0021554 optic nerve development
GO:0021772 olfactory bulb development
GO:0030163 protein catabolic process
GO:0030176 integral component of endoplasmic reticulum membrane
GO:0030199 collagen fibril organization
GO:0030204 chondroitin sulfate metabolic process
GO:0030210 heparin biosynthetic process
GO:0030509 BMP signaling pathway
GO:0032836 glomerular basement membrane development
GO:0033627 cell adhesion mediated by integrin
GO:0033692 cellular polysaccharide biosynthetic process
GO:0035176 social behavior
GO:0035249 synaptic transmission, glutamatergic
GO:0035988 chondrocyte proliferation
GO:0036022 limb joint morphogenesis
GO:0036336 dendritic cell migration
GO:0036339 lymphocyte adhesion to endothelial cell of high endothelial venule
GO:0042044 fluid transport
GO:0042060 wound healing
GO:0042311 vasodilation
GO:0042328 heparan sulfate N-acetylglucosaminyltransferase activity
GO:0042596 fear response
GO:0042803 protein homodimerization activity
GO:0043931 ossification involved in bone maturation
GO:0045165 cell fate commitment
GO:0045202 synapse
GO:0045453 bone resorption
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
GO:0050891 multicellular organismal water homeostasis
GO:0050901 leukocyte tethering or rolling
GO:0051923 sulfation
GO:0055078 sodium ion homeostasis
GO:0060047 heart contraction
GO:0060070 canonical Wnt signaling pathway
GO:0060218 hematopoietic stem cell differentiation
GO:0060351 cartilage development involved in endochondral bone morphogenesis
GO:0060441 epithelial tube branching involved in lung morphogenesis
GO:0060506 smoothened signaling pathway involved in lung development
GO:0060560 developmental growth involved in morphogenesis
GO:0061484 hematopoietic stem cell homeostasis
GO:0061744 motor behavior
GO:0061974 perichondral bone morphogenesis
GO:0062094 stomach development
GO:0065003 protein-containing complex assembly
GO:0070593 dendrite self-avoidance
GO:0071503 response to heparin
GO:0071625 vocalization behavior
GO:0071711 basement membrane organization
GO:0071847 TNFSF11-mediated signaling pathway
GO:0072112 glomerular visceral epithelial cell differentiation
GO:0072498 embryonic skeletal joint development
GO:0097021 lymphocyte migration into lymphoid organs
GO:0097241 hematopoietic stem cell migration to bone marrow
GO:0120193 tight junction organization
GO:1901706 mesenchymal cell differentiation involved in bone development
GO:1904888 cranial skeletal system development
GO:1990823 response to leukemia inhibitory factor

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane
Golgi apparatus membrane

Domains

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DomainNameCategoryType
IPR004263 Exostosin-likeFamilyFamily
IPR015338 Glycosyl transferase 64 domainDomainDomain
IPR027670 Exostosin-1FamilyFamily
IPR029044 Nucleotide-diphospho-sugar transferasesFamilyHomologous superfamily
IPR040911 Exostosin, GT47 domainDomainDomain

Diseases

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Disease IDSourceNameDescription
215300 OMIMChondrosarcoma (CHDSA)A malignant neoplasm derived from cartilage cells. Chondrosarcomas range from slow-growing non-metastasizing lesions to highly aggressive metastasizing sarcomas. The disease is caused by variants affecting the gene represented in this entry.
133700 OMIMHereditary 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. The disease is caused by variants affecting the gene represented in this entry.
150230 OMIMTricho-rhino-phalangeal syndrome 2 (TRPS2)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. 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.