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exostosin glycosyltransferase 1

Summary

Gene Symbol

EXT1

Aliases

Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase
N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase
ttv

Organism

Homo sapiens (human)

External Links

NCBI Gene

2131

GGDB ID

gg158

HGNC

3512

mRNA

NM_000127

map

8q24.11-q24.13

Protein

NP_000118

OMIM

608177

KEGG Gene ID

hsa:2131

PubChem

2131

Alliance of Genome Resources

HGNC:3512

JoGo

EXT1

TogoVar

EXT1

Annotation

Keyword

3D-structure
Disease variant
Disulfide bond
Endoplasmic reticulum
Glycoprotein
Glycosyltransferase
Golgi apparatus
Hereditary multiple exostoses
Manganese
Metal-binding
Proteomics identification
Reference proteome
Signal-anchor
Transmembrane helix
Tumor suppressor

Proteins

Displaying 1 entry
UniProt	Protein Name
Q16394	Exostosin glycosyltransferase 1 Heparan sulfate co-polymerase subunit EXT1 Multiple exostoses protein 1 N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 86 in total

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GO Term	Evidence Code	PMID
polysaccharide biosynthetic process	IDA
ossification	IMP
ossification	IEA
endochondral ossification
blood vessel remodeling

GO Hierarchy

biological process

immune system process [inference]

immune response [inference]

inflammatory response to antigenic stimulus [inference]

acute inflammatory response to antigenic stimulus [inference]

hypersensitivity

antigen processing and presentation

leukocyte migration [inference]

mononuclear cell migration [inference]

dendritic cell migration

lymphocyte migration [inference]

lymphocyte migration into lymphoid organs

cellular process [inference]

cell communication [inference]

cell-cell signaling [inference]

synaptic signaling [inference]

trans-synaptic signaling [inference]

anterograde trans-synaptic signaling [inference]

chemical synaptic transmission [inference]

synaptic transmission, glutamatergic

cell adhesion [inference]

cell adhesion mediated by integrin

cell-cell adhesion [inference]

leukocyte cell-cell adhesion [inference]

leukocyte adhesion to vascular endothelial cell [inference]

signal transduction [inference]

cell surface receptor signaling pathway [inference]

enzyme-linked receptor protein signaling pathway [inference]

cell surface receptor protein tyrosine kinase signaling pathway [inference]

fibroblast growth factor receptor signaling pathway

cell surface receptor protein serine/threonine kinase signaling pathway [inference]

transforming growth factor beta receptor superfamily signaling pathway [inference]

BMP signaling pathway

smoothened signaling pathway [inference]

smoothened signaling pathway involved in lung development

Wnt signaling pathway [inference]

canonical Wnt signaling pathway

intracellular signal transduction [inference]

intracellular signaling cassette [inference]

MAPK cascade [inference]

ERK1 and ERK2 cascade

cell recognition [inference]

neuron recognition [inference]

dendrite self-avoidance

metabolic process [inference]

sulfur compound metabolic process [inference]

sulfation

catabolic process [inference]

macromolecule catabolic process [inference]

protein catabolic process

biosynthetic process [inference]

macromolecule biosynthetic process [inference]

polysaccharide biosynthetic process

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

glycoprotein biosynthetic process

protein O-linked glycosylation [inference]

protein O-linked glycosylation via xylose [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

gene expression

carbohydrate biosynthetic process [inference]

polysaccharide biosynthetic process

carbohydrate derivative biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

glycoprotein biosynthetic process

protein O-linked glycosylation [inference]

protein O-linked glycosylation via xylose [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

macromolecule metabolic process [inference]

polysaccharide metabolic process [inference]

polysaccharide biosynthetic process

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

glycosaminoglycan metabolic process [inference]

glycosaminoglycan biosynthetic process

macromolecule catabolic process [inference]

protein catabolic process

macromolecule biosynthetic process [inference]

polysaccharide biosynthetic process

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

glycoprotein biosynthetic process

protein O-linked glycosylation [inference]

protein O-linked glycosylation via xylose [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

gene expression

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

heparan sulfate proteoglycan metabolic process [inference]

heparan sulfate proteoglycan biosynthetic process

heparin proteoglycan metabolic process [inference]

heparin proteoglycan biosynthetic process

chondroitin sulfate proteoglycan metabolic process

glycoprotein biosynthetic process

protein O-linked glycosylation [inference]

protein O-linked glycosylation via xylose [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

protein catabolic process

primary metabolic process [inference]

carbohydrate metabolic process [inference]

polysaccharide metabolic process [inference]

polysaccharide biosynthetic process

carbohydrate biosynthetic process [inference]

polysaccharide biosynthetic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

heparan sulfate proteoglycan metabolic process [inference]

heparan sulfate proteoglycan biosynthetic process

heparin proteoglycan metabolic process [inference]

heparin proteoglycan biosynthetic process

chondroitin sulfate proteoglycan metabolic process

glycoprotein biosynthetic process

protein O-linked glycosylation [inference]

protein O-linked glycosylation via xylose [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

protein catabolic process

carbohydrate derivative metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

glycosaminoglycan metabolic process [inference]

glycosaminoglycan biosynthetic process

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

heparan sulfate proteoglycan metabolic process [inference]

heparan sulfate proteoglycan biosynthetic process

heparin proteoglycan metabolic process [inference]

heparin proteoglycan biosynthetic process

chondroitin sulfate proteoglycan metabolic process

glycoprotein biosynthetic process

protein O-linked glycosylation [inference]

protein O-linked glycosylation via xylose [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

carbohydrate derivative biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

glycoprotein biosynthetic process

protein O-linked glycosylation [inference]

protein O-linked glycosylation via xylose [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

cell population proliferation [inference]

chondrocyte proliferation

cell growth [inference]

developmental cell growth [inference]

chondrocyte hypertrophy

cellular developmental process [inference]

cell differentiation [inference]

chondrocyte differentiation [inference]

chondrocyte differentiation involved in endochondral bone morphogenesis

hematopoietic progenitor cell differentiation [inference]

hematopoietic stem cell differentiation

epithelial cell differentiation [inference]

columnar/cuboidal epithelial cell differentiation [inference]

glandular epithelial cell differentiation

epithelial cell differentiation involved in kidney development [inference]

glomerular epithelial cell differentiation [inference]

podocyte differentiation

mesodermal cell differentiation

mesenchymal cell differentiation [inference]

stem cell differentiation [inference]

cell differentiation involved in kidney development [inference]

epithelial cell differentiation involved in kidney development [inference]

glomerular epithelial cell differentiation [inference]

podocyte differentiation

renal filtration cell differentiation [inference]

podocyte differentiation

cell fate commitment

cell motility [inference]

cell migration [inference]

hematopoietic stem cell migration [inference]

hematopoietic stem cell migration to bone marrow

leukocyte migration [inference]

mononuclear cell migration [inference]

dendritic cell migration

lymphocyte migration [inference]

lymphocyte migration into lymphoid organs

cell division [inference]

stem cell division

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

vacuole organization

cellular component assembly [inference]

protein-containing complex assembly

cell projection organization [inference]

plasma membrane bounded cell projection organization [inference]

neuron projection development [inference]

neuron projection guidance [inference]

axon guidance

cell junction organization [inference]

cell-cell junction organization [inference]

tight junction organization

extracellular structure organization [inference]

extracellular matrix organization [inference]

protein-containing complex organization [inference]

protein-containing complex assembly

external encapsulating structure organization [inference]

extracellular matrix organization [inference]

multicellular organismal process [inference]

ossification

replacement ossification [inference]

endochondral ossification

ossification involved in bone maturation

morphogenesis of a branching structure [inference]

morphogenesis of a branching epithelium [inference]

branching morphogenesis of an epithelial tube [inference]

epithelial tube branching involved in lung morphogenesis

system process [inference]

circulatory system process [inference]

heart process [inference]

heart contraction

vascular process in circulatory system [inference]

blood vessel diameter maintenance [inference]

vasodilation

pattern specification process [inference]

regionalization [inference]

specification of animal organ identity [inference]

heart field specification

behavior [inference]

molting cycle process [inference]

hair cycle process [inference]

hair follicle morphogenesis

multicellular organismal response to stress [inference]

fear response

multicellular organism growth

organ growth [inference]

bone growth [inference]

endochondral bone growth

tissue remodeling [inference]

blood vessel remodeling

multicellular organismal-level homeostasis [inference]

homeostasis of number of cells [inference]

hematopoietic stem cell homeostasis

anatomical structure homeostasis [inference]

tissue homeostasis [inference]

bone resorption

multicellular organismal-level chemical homeostasis [inference]

multicellular organismal-level water homeostasis

developmental process [inference]

anatomical structure morphogenesis [inference]

morphogenesis of a branching structure [inference]

morphogenesis of a branching epithelium [inference]

branching morphogenesis of an epithelial tube [inference]

epithelial tube branching involved in lung morphogenesis

outflow tract morphogenesis

animal organ morphogenesis [inference]

embryonic organ morphogenesis [inference]

embryonic skeletal system morphogenesis [inference]

embryonic skeletal joint morphogenesis [inference]

embryonic skeletal limb joint morphogenesis

skeletal system morphogenesis [inference]

embryonic skeletal system morphogenesis [inference]

embryonic skeletal joint morphogenesis [inference]

embryonic skeletal limb joint morphogenesis

bone morphogenesis [inference]

membrane bone morphogenesis [inference]

perichondral bone morphogenesis

hair follicle morphogenesis

tube morphogenesis [inference]

branching morphogenesis of an epithelial tube [inference]

epithelial tube branching involved in lung morphogenesis

limb joint morphogenesis [inference]

embryonic skeletal limb joint morphogenesis

embryonic morphogenesis [inference]

embryonic organ morphogenesis [inference]

embryonic skeletal system morphogenesis [inference]

embryonic skeletal joint morphogenesis [inference]

embryonic skeletal limb joint morphogenesis

tissue morphogenesis [inference]

morphogenesis of an epithelium [inference]

morphogenesis of a branching epithelium [inference]

branching morphogenesis of an epithelial tube [inference]

epithelial tube branching involved in lung morphogenesis

trabecula morphogenesis [inference]

bone trabecula morphogenesis

anatomical structure formation involved in morphogenesis [inference]

limb bud formation

anatomical structure development [inference]

tissue development [inference]

endoderm development

nerve development [inference]

cranial nerve development [inference]

optic nerve development

animal organ development [inference]

gland development [inference]

cellular developmental process [inference]

cell differentiation [inference]

chondrocyte differentiation [inference]

chondrocyte differentiation involved in endochondral bone morphogenesis

hematopoietic progenitor cell differentiation [inference]

hematopoietic stem cell differentiation

epithelial cell differentiation [inference]

columnar/cuboidal epithelial cell differentiation [inference]

glandular epithelial cell differentiation

epithelial cell differentiation involved in kidney development [inference]

glomerular epithelial cell differentiation [inference]

podocyte differentiation

mesodermal cell differentiation

mesenchymal cell differentiation [inference]

stem cell differentiation [inference]

cell differentiation involved in kidney development [inference]

epithelial cell differentiation involved in kidney development [inference]

glomerular epithelial cell differentiation [inference]

podocyte differentiation

renal filtration cell differentiation [inference]

podocyte differentiation

cell fate commitment

growth [inference]

cell growth [inference]

developmental cell growth [inference]

chondrocyte hypertrophy

developmental growth [inference]

multicellular organism growth

organ growth [inference]

bone growth [inference]

endochondral bone growth

developmental cell growth [inference]

chondrocyte hypertrophy

developmental growth involved in morphogenesis

homeostatic process [inference]

multicellular organismal-level homeostasis [inference]

homeostasis of number of cells [inference]

hematopoietic stem cell homeostasis

anatomical structure homeostasis [inference]

tissue homeostasis [inference]

bone resorption

multicellular organismal-level chemical homeostasis [inference]

multicellular organismal-level water homeostasis

chemical homeostasis [inference]

monoatomic ion homeostasis [inference]

monoatomic cation homeostasis [inference]

sodium ion homeostasis

inorganic ion homeostasis [inference]

sodium ion homeostasis

multicellular organismal-level chemical homeostasis [inference]

multicellular organismal-level water homeostasis

biological process involved in interspecies interaction between organisms [inference]

response to other organism [inference]

response to virus [inference]

cellular response to virus

response to stimulus [inference]

response to stress [inference]

defense response [inference]

inflammatory response [inference]

inflammatory response to antigenic stimulus [inference]

acute inflammatory response to antigenic stimulus [inference]

hypersensitivity

acute inflammatory response [inference]

acute inflammatory response to antigenic stimulus [inference]

hypersensitivity

response to wounding [inference]

wound healing

multicellular organismal response to stress [inference]

fear response

immune response [inference]

inflammatory response to antigenic stimulus [inference]

acute inflammatory response to antigenic stimulus [inference]

hypersensitivity

response to external stimulus [inference]

response to external biotic stimulus [inference]

response to other organism [inference]

response to virus [inference]

cellular response to virus

response to biotic stimulus [inference]

response to external biotic stimulus [inference]

response to other organism [inference]

response to virus [inference]

cellular response to virus

response to abiotic stimulus [inference]

response to radiation [inference]

response to light stimulus [inference]

response to light intensity

response to chemical [inference]

response to peptide [inference]

response to cytokine [inference]

response to leukemia inhibitory factor

response to nitrogen compound [inference]

response to heparin

response to oxygen-containing compound [inference]

response to heparin

localization [inference]

establishment of localization [inference]

transport [inference]

fluid transport

biological process involved in intraspecies interaction between organisms [inference]

social behavior

biological regulation [inference]

regulation of biological process [inference]

regulation of signaling [inference]

regulation of signal transduction [inference]

regulation of cytokine-mediated signaling pathway [inference]

regulation of tumor necrosis factor-mediated signaling pathway

signaling [inference]

cell-cell signaling [inference]

synaptic signaling [inference]

trans-synaptic signaling [inference]

anterograde trans-synaptic signaling [inference]

chemical synaptic transmission [inference]

synaptic transmission, glutamatergic

regulation of response to stimulus [inference]

regulation of signal transduction [inference]

regulation of cytokine-mediated signaling pathway [inference]

regulation of tumor necrosis factor-mediated signaling pathway

regulation of response to cytokine stimulus [inference]

regulation of cytokine-mediated signaling pathway [inference]

regulation of tumor necrosis factor-mediated signaling pathway

regulation of cellular process [inference]

signal transduction [inference]

cell surface receptor signaling pathway [inference]

enzyme-linked receptor protein signaling pathway [inference]

cell surface receptor protein tyrosine kinase signaling pathway [inference]

fibroblast growth factor receptor signaling pathway

cell surface receptor protein serine/threonine kinase signaling pathway [inference]

transforming growth factor beta receptor superfamily signaling pathway [inference]

BMP signaling pathway

smoothened signaling pathway [inference]

smoothened signaling pathway involved in lung development

Wnt signaling pathway [inference]

canonical Wnt signaling pathway

intracellular signal transduction [inference]

intracellular signaling cassette [inference]

MAPK cascade [inference]

ERK1 and ERK2 cascade

regulation of cell communication [inference]

regulation of signal transduction [inference]

regulation of cytokine-mediated signaling pathway [inference]

regulation of tumor necrosis factor-mediated signaling pathway

regulation of biological quality [inference]

regulation of blood pressure

regulation of body fluid levels [inference]

multicellular organismal-level water homeostasis

regulation of anatomical structure size [inference]

regulation of tube size [inference]

regulation of tube diameter [inference]

blood vessel diameter maintenance [inference]

vasodilation

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GO Term	Evidence Code	PMID
Golgi apparatus	IBA
Golgi apparatus	IEA
membrane	IEA
synapse
catalytic complex	IDA

GO Hierarchy

cellular component

protein-containing complex [inference]

catalytic complex

cellular anatomical structure [inference]

membrane

organelle membrane [inference]

endoplasmic reticulum membrane

bounding membrane of organelle [inference]

Golgi membrane

cell junction [inference]

synapse

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

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GO Term	Evidence Code	PMID
protein binding	IPI
acetylglucosaminyltransferase activity	IBA
glucuronosyltransferase activity	IBA
glycosyltransferase activity	IEA
heparan sulfate N-acetylglucosaminyltransferase activity	NAS

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

glycosyltransferase activity

UDP-glycosyltransferase activity [inference]

acetylglucosaminyltransferase activity

glucuronosyltransferase activity

N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity

hexosyltransferase activity [inference]

acetylglucosaminyltransferase activity

glucuronosyltransferase activity

N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity

binding [inference]

protein binding

identical protein binding [inference]

protein homodimerization activity

protein dimerization activity [inference]

small molecule binding [inference]

ion binding [inference]

cation binding [inference]

metal ion binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000182197

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

GlycoGene Database (GGDB)

GGDB ID

gg158

Gene Symbol

EXT1

Reactions

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Donor	Acceptor	Reducing terminal(Acceptor)	Reference
UDP-GalNAc	G14371GV	O-(Gly)Ser-Glu coexpression of EXT1 and EXT2	12907685
UDP-GalNAc	G14371GV	O-Ser	12907685
UDP-GalNAc	G14371GV	O-Ser mixture of EXT1 and EXT2	12907685
UDP-GalNAc	G14371GV	O-Ser-Gly-Typ-Pro-Asp-Gly	12907685
UDP-GalNAc	G14371GV	O-Ser-Gly-Typ-Pro-Asp-Gly mixture of EXT1 and EXT2	12907685

Orthologous Gene

Displaying **all 4** entries
Species	Protein	mRNA
Caenorhabditis elegans	NP_502180	NM_069779
Mus musculus	NP_034292	NM_010162
Drosophila melanogaster	NP_477231	NM_057883
Rattus norvegicus	XP_216920	XM_216920

KEGG BRITE Database

Orthology

K02366

Name

glucuronyl/N-acetylglucosaminyl transferase EXT1 [EC:2.4.1.224 2.4.1.225]

References

9665133

Reactions

Displaying **all 2** entries
KEGG Reaction	Enzyme	Acceptor	Product
R05935	2.4.1.225	G13581JW	G74553IH
R10138	2.4.1.225	G18844FT	G70244WB

Rhea

RHEA:20908

UDP-α-D-glucuronate

H⁺ + UDP

Enzyme

2.4.1.225

PMID

Disease

Disease Ontology

Displaying **all 2** entries
DO ID	Disease Name	Source
DOID:3371	chondrosarcoma	Alliance of Genome Resources
DOID:206	hereditary multiple exostoses	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 92 in total

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HPO ID	HPO Term
HP:0000006	Autosomal dominant inheritance
HP:0000010	Recurrent urinary tract infections
HP:0000016	Urinary retention
HP:0000076	Vesicoureteral reflux
HP:0000164	Abnormality of the dentition
HP:0000174	Abnormal palate morphology
HP:0000219	Thin upper lip vermilion
HP:0000252	Microcephaly
HP:0000343	Long philtrum
HP:0000368	Low-set, posteriorly rotated ears

Displaying **all 4** entries
Disease ID	Disease Name
OMIM:215300	chondrosarcoma
ORPHA:321	hereditary multiple osteochondromas
ORPHA:502	trichorhinophalangeal syndrome type II
OMIM:133700	exostoses, multiple, type 1

PubChem Disease

GHR Health Conditions

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

Displaying **all 9** entries
Species	Gene ID	Alliance of Genome Resources
Mus musculus	14042	MGI:894663
Rattus norvegicus	299907	RGD:1587375
Caenorhabditis elegans	178080	WB:WBGene00004360
Drosophila melanogaster	36614	FB:FBgn0265974
Danio rerio	497280	ZFIN:ZDB-GENE-050211-4
Danio rerio	497279	ZFIN:ZDB-GENE-050211-3
Xenopus laevis	399115	Xenbase:XB-GENE-867536
Xenopus laevis	398214	Xenbase:XB-GENE-17332106
Xenopus tropicalis	448393	Xenbase:XB-GENE-867525

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Guidelines

Summary

External Links

Annotation

GlycoGene Database (GGDB)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements