Ext1 - exostosin glycosyltransferase 1 Gene

Mus musculus

Gene ID: 14042 | Gene type: protein coding

About Ext1

Summary

Enables N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity and glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity. Involved in heparan sulfate proteoglycan biosynthetic process. Acts upstream of or within with a positive effect on several processes, including glomerular visceral epithelial cell differentiation; heparin biosynthetic process; and nervous system development. Acts upstream of or within with a negative effect on sulfation. Acts upstream of or within several processes, including animal organ development; cell surface receptor signaling pathway; and leukocyte migration. Is integral component of endoplasmic reticulum membrane. Is expressed in several structures, including alimentary system; brain; extraembryonic component; genitourinary system; and limb. Used to study autism spectrum disorder and hereditary multiple exostoses. Human ortholog(s) of this gene implicated in chondrosarcoma; hereditary multiple exostoses; and trichorhinophalangeal syndrome type II. Orthologous to human EXT1 (exostosin Glycosyltransferase 1). [provided by Alliance of Genome Resources, Apr 2022]

Ext1 Products(1)

mRNA	Protein	Name
NM_010162.2	NP_034292.2	exostosin-1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity	IDA IDA: Inferred from direct assay	10639137	MGI
enables N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity	IGI IGI: Inferred from genetic interaction	10639137	MGI
enables glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	IDA IDA: Inferred from direct assay	10639137	MGI
enables glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	IGI IGI: Inferred from genetic interaction	10639137	MGI
enables glycosyltransferase activity	IMP IMP: Inferred from mutant phenotype	10926768	MGI

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within BMP signaling pathway	IDA IDA: Inferred from direct assay	22556407	MGI
acts upstream of or within BMP signaling pathway	IMP IMP: Inferred from mutant phenotype	21148566	MGI
acts upstream of or within antigen processing and presentation	IMP IMP: Inferred from mutant phenotype	23733868	MGI
acts upstream of or within axon guidance	IGI IGI: Inferred from genetic interaction	14605369	MGI
acts upstream of or within axon guidance	IMP IMP: Inferred from mutant phenotype	14605369	MGI
acts upstream of or within positive effect axon guidance	IMP IMP: Inferred from mutant phenotype	14605369	MGI
acts upstream of or within basement membrane organization	IMP IMP: Inferred from mutant phenotype	26024086	MGI
acts upstream of or within blood vessel remodeling	IMP IMP: Inferred from mutant phenotype	26295701	MGI
acts upstream of or within bone growth	IMP IMP: Inferred from mutant phenotype	21185280	MGI
acts upstream of or within bone morphogenesis	IMP IMP: Inferred from mutant phenotype	20080592	MGI
acts upstream of or within bone resorption	IMP IMP: Inferred from mutant phenotype	29415886	MGI
acts upstream of or within brain development	IMP IMP: Inferred from mutant phenotype	14605369	MGI
acts upstream of or within positive effect brain development	IMP IMP: Inferred from mutant phenotype	14605369	MGI
acts upstream of or within canonical Wnt signaling pathway	IMP IMP: Inferred from mutant phenotype	29545125	MGI
acts upstream of or within cartilage development involved in endochondral bone morphogenesis	IMP IMP: Inferred from mutant phenotype	21185280	MGI
acts upstream of or within cell adhesion	IMP IMP: Inferred from mutant phenotype	19850926	MGI
acts upstream of or within cell adhesion mediated by integrin	IMP IMP: Inferred from mutant phenotype	21093315	MGI
acts upstream of or within cell fate commitment	IMP IMP: Inferred from mutant phenotype	20022960	MGI
acts upstream of or within positive effect cell morphogenesis	IMP IMP: Inferred from mutant phenotype	18480751	MGI
acts upstream of or within cell population proliferation	IMP IMP: Inferred from mutant phenotype	21185280	MGI
acts upstream of or within positive effect cell surface receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	15177029	MGI
acts upstream of positive effect cell surface receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	10926768	MGI
acts upstream of or within cellular component organization	IMP IMP: Inferred from mutant phenotype	28445472	MGI
acts upstream of or within cellular response to BMP stimulus	IMP IMP: Inferred from mutant phenotype	20404326	MGI
acts upstream of or within cellular response to fibroblast growth factor stimulus	IMP IMP: Inferred from mutant phenotype	19850926	MGI
acts upstream of or within cellular response to virus	IMP IMP: Inferred from mutant phenotype	25741008	MGI
acts upstream of or within chemokine production	IMP IMP: Inferred from mutant phenotype	23733868	MGI
acts upstream of or within chondrocyte differentiation	IMP IMP: Inferred from mutant phenotype	20080592	MGI
acts upstream of or within chondrocyte hypertrophy	IMP IMP: Inferred from mutant phenotype	23958822	MGI
acts upstream of or within chondrocyte proliferation	IMP IMP: Inferred from mutant phenotype	20080592	MGI
acts upstream of or within chondroitin sulfate metabolic process	IMP IMP: Inferred from mutant phenotype	32201365	MGI
acts upstream of or within collagen fibril organization	IMP IMP: Inferred from mutant phenotype	19850926	MGI
acts upstream of or within cranial skeletal system development	IMP IMP: Inferred from mutant phenotype	28445472	MGI
acts upstream of or within dendrite self-avoidance	IMP IMP: Inferred from mutant phenotype	21743013	MGI
acts upstream of or within dendritic cell migration	IMP IMP: Inferred from mutant phenotype	21093315	MGI
acts upstream of or within developmental growth involved in morphogenesis	IMP IMP: Inferred from mutant phenotype	23192691	MGI
acts upstream of or within positive effect embryonic morphogenesis	IMP IMP: Inferred from mutant phenotype	10926768	MGI
acts upstream of or within embryonic skeletal joint development	IMP IMP: Inferred from mutant phenotype	21185280	MGI
acts upstream of or within endochondral bone growth	IMP IMP: Inferred from mutant phenotype	23192691	MGI
acts upstream of or within endochondral bone morphogenesis	IGI IGI: Inferred from genetic interaction	21310272	MGI
acts upstream of or within endochondral bone morphogenesis	IMP IMP: Inferred from mutant phenotype	21310272	MGI
acts upstream of or within endochondral ossification	IMP IMP: Inferred from mutant phenotype	21185280	MGI
acts upstream of or within endoderm development	IMP IMP: Inferred from mutant phenotype	10926768	MGI
acts upstream of or within positive effect endoderm development	IMP IMP: Inferred from mutant phenotype	10926768	MGI
acts upstream of or within epithelial tube branching involved in lung morphogenesis	IMP IMP: Inferred from mutant phenotype	28859094	MGI
acts upstream of or within epithelium development	IMP IMP: Inferred from mutant phenotype	26024086	MGI
acts upstream of or within fear response	IMP IMP: Inferred from mutant phenotype	22411800	MGI
acts upstream of or within fibroblast growth factor receptor signaling pathway	IDA IDA: Inferred from direct assay	22556407	MGI
acts upstream of or within fibroblast growth factor receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	20022960	MGI
acts upstream of or within positive effect fibroblast growth factor receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	26295701	MGI
acts upstream of or within fluid transport	IGI IGI: Inferred from genetic interaction	31365577	MGI
acts upstream of or within gastrulation	IMP IMP: Inferred from mutant phenotype	10926768	MGI
acts upstream of or within positive effect gastrulation	IMP IMP: Inferred from mutant phenotype	10926768	MGI
acts upstream of or within gene expression	IMP IMP: Inferred from mutant phenotype	20022960	MGI
acts upstream of or within glandular epithelial cell differentiation	IMP IMP: Inferred from mutant phenotype	29700203	MGI
acts upstream of or within glomerular basement membrane development	IMP IMP: Inferred from mutant phenotype	18480751	MGI
acts upstream of or within hair cycle process	IMP IMP: Inferred from mutant phenotype	25053416	MGI
acts upstream of or within hair follicle morphogenesis	IMP IMP: Inferred from mutant phenotype	25053416	MGI
acts upstream of or within heart contraction	IGI IGI: Inferred from genetic interaction	31365577	MGI
acts upstream of or within heart field specification	IMP IMP: Inferred from mutant phenotype	26295701	MGI
acts upstream of or within hematopoietic progenitor cell differentiation	IMP IMP: Inferred from mutant phenotype	25202142	MGI
acts upstream of or within hematopoietic stem cell differentiation	IMP IMP: Inferred from mutant phenotype	21148566	MGI
acts upstream of or within hematopoietic stem cell homeostasis	IMP IMP: Inferred from mutant phenotype	25202142	MGI
acts upstream of or within hematopoietic stem cell migration to bone marrow	IMP IMP: Inferred from mutant phenotype	25202142	MGI
involved in heparan sulfate proteoglycan biosynthetic process	IDA IDA: Inferred from direct assay	10639137	MGI
acts upstream of or within heparan sulfate proteoglycan biosynthetic process	IMP IMP: Inferred from mutant phenotype	20080592	MGI
involved in heparan sulfate proteoglycan biosynthetic process	IMP IMP: Inferred from mutant phenotype	10639137	MGI
acts upstream of or within heparin biosynthetic process	IGI IGI: Inferred from genetic interaction	21310272	MGI
acts upstream of or within heparin biosynthetic process	IMP IMP: Inferred from mutant phenotype	21148566	MGI
acts upstream of or within positive effect heparin biosynthetic process	IMP IMP: Inferred from mutant phenotype	10926768	MGI
acts upstream of or within heparin metabolic process	IMP IMP: Inferred from mutant phenotype	26491162	MGI
acts upstream of or within hypersensitivity	IMP IMP: Inferred from mutant phenotype	21093315	MGI
acts upstream of or within leukocyte tethering or rolling	IMP IMP: Inferred from mutant phenotype	21093315	MGI
acts upstream of or within limb joint morphogenesis	IMP IMP: Inferred from mutant phenotype	20404326	MGI
acts upstream of or within lymphocyte adhesion to endothelial cell of high endothelial venule	IMP IMP: Inferred from mutant phenotype	21093315	MGI
acts upstream of or within lymphocyte migration into lymphoid organs	IMP IMP: Inferred from mutant phenotype	21093315	MGI
acts upstream of or within mesenchymal cell differentiation involved in bone development	IMP IMP: Inferred from mutant phenotype	20404326	MGI
acts upstream of or within mesenchyme development	IMP IMP: Inferred from mutant phenotype	28859094	MGI
acts upstream of or within mesoderm development	IMP IMP: Inferred from mutant phenotype	10926768	MGI
acts upstream of or within positive effect mesoderm development	IMP IMP: Inferred from mutant phenotype	10926768	MGI
acts upstream of or within motor behavior	IMP IMP: Inferred from mutant phenotype	22411800	MGI
acts upstream of or within multicellular organism growth	IMP IMP: Inferred from mutant phenotype	23958822	MGI
acts upstream of or within multicellular organismal-level water homeostasis	IGI IGI: Inferred from genetic interaction	31365577	MGI
acts upstream of or within neural crest cell differentiation	IMP IMP: Inferred from mutant phenotype	26295701	MGI
acts upstream of or within neuron projection development	IMP IMP: Inferred from mutant phenotype	21743013	MGI
acts upstream of or within olfactory bulb development	IMP IMP: Inferred from mutant phenotype	14605369	MGI
acts upstream of or within optic nerve development	IMP IMP: Inferred from mutant phenotype	21743013	MGI
acts upstream of or within ossification involved in bone maturation	IMP IMP: Inferred from mutant phenotype	29415886	MGI
acts upstream of or within perichondral bone morphogenesis	IMP IMP: Inferred from mutant phenotype	28768899	MGI
acts upstream of or within positive effect podocyte differentiation	IMP IMP: Inferred from mutant phenotype	18480751	MGI
acts upstream of or within protein catabolic process	IMP IMP: Inferred from mutant phenotype	22556407	MGI
acts upstream of or within protein-containing complex assembly	IMP IMP: Inferred from mutant phenotype	29700203	MGI
acts upstream of or within proteoglycan biosynthetic process	IMP IMP: Inferred from mutant phenotype	21185280	MGI
acts upstream of or within regulation of blood pressure	IGI IGI: Inferred from genetic interaction	31365577	MGI
acts upstream of or within regulation of tumor necrosis factor-mediated signaling pathway	IMP IMP: Inferred from mutant phenotype	29415886	MGI
acts upstream of or within response to growth factor	IMP IMP: Inferred from mutant phenotype	25202142	MGI
acts upstream of or within response to heparin	IMP IMP: Inferred from mutant phenotype	21148566	MGI
acts upstream of or within response to leukemia inhibitory factor	IMP IMP: Inferred from mutant phenotype	20022960	MGI
acts upstream of or within response to light intensity	IMP IMP: Inferred from mutant phenotype	22411800	MGI
acts upstream of or within response to virus	IMP IMP: Inferred from mutant phenotype	26491162	MGI
acts upstream of or within sebaceous gland development	IMP IMP: Inferred from mutant phenotype	25053416	MGI
acts upstream of or within smoothened signaling pathway	IMP IMP: Inferred from mutant phenotype	25053416	MGI
acts upstream of or within smoothened signaling pathway involved in lung development	IMP IMP: Inferred from mutant phenotype	28859094	MGI
acts upstream of or within social behavior	IMP IMP: Inferred from mutant phenotype	22411800	MGI
acts upstream of or within sodium ion homeostasis	IGI IGI: Inferred from genetic interaction	31365577	MGI
acts upstream of or within stem cell division	IMP IMP: Inferred from mutant phenotype	20022960	MGI
acts upstream of or within stomach development	IMP IMP: Inferred from mutant phenotype	29700203	MGI
acts upstream of or within negative effect sulfation	IDA IDA: Inferred from direct assay	18337501	MGI
acts upstream of or within sulfation	IMP IMP: Inferred from mutant phenotype	32201365	MGI
acts upstream of or within sweat gland development	IMP IMP: Inferred from mutant phenotype	25053416	MGI
acts upstream of or within synaptic transmission, glutamatergic	IMP IMP: Inferred from mutant phenotype	22411800	MGI
acts upstream of or within tight junction organization	IMP IMP: Inferred from mutant phenotype	26024086	MGI
acts upstream of or within vacuole organization	IMP IMP: Inferred from mutant phenotype	18480751	MGI
acts upstream of or within vasodilation	IGI IGI: Inferred from genetic interaction	31365577	MGI
acts upstream of or within vocalization behavior	IMP IMP: Inferred from mutant phenotype	22411800	MGI
acts upstream of or within wound healing	IMP IMP: Inferred from mutant phenotype	26024086	MGI

Cellular Component GO Annotation	Evidence	Reference	Source
is active in Golgi apparatus	IDA IDA: Inferred from direct assay	10639137	MGI
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	9620772	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

exostosin-1

exostoses (multiple) 1	glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
multiple exostoses protein 1 homolog

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04607	EXT1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21339	Ext1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27858	Ext1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Ext1	NCBI	NCBI:2131

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