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Ext1 exostosin glycosyltransferase 1 [ Mus musculus (house mouse) ]

Gene ID: 14042, updated on 24-Dec-2024

Summary

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Official Symbol: Ext1provided by MGI
Official Full Name: exostosin glycosyltransferase 1provided by MGI
Primary source: MGI:MGI:894663
See related: Ensembl:ENSMUSG00000061731 AllianceGenome:MGI:894663
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
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 with a positive effect on cell surface receptor signaling pathway. Acts upstream of or within with a positive effect on several processes, including heparin biosynthetic process; nervous system development; and podocyte differentiation. Acts upstream of or within with a negative effect on sulfation. Acts upstream of or within several processes, including cell surface receptor signaling pathway; extracellular matrix organization; and skeletal system development. Located in endoplasmic reticulum membrane. Is active in Golgi apparatus. 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 and hereditary multiple exostoses. Orthologous to human EXT1 (exostosin glycosyltransferase 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in limb E14.5 (RPKM 15.9), CNS E11.5 (RPKM 14.4) and 28 other tissues See more
Orthologs: human all
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Genomic context

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See Ext1 in Genome Data Viewer

Location:: 15 C; 15 20.0 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (52931657..53209579, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (53068261..53346183, complement)

Chromosome 15 - NC_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Osteochondroma formation is independent of heparanase expression as revealed in a mouse model of hereditary multiple exostoses.
Title: Osteochondroma formation is independent of heparanase expression as revealed in a mouse model of hereditary multiple exostoses.
Obesity induced Ext1 reduction mediates the occurrence of NAFLD.
Title: Obesity induced Ext1 reduction mediates the occurrence of NAFLD.
Chondrocytes respond to an altered heparan sulfate composition with distinct changes of heparan sulfate structure and increased levels of chondroitin sulfate.
Title: Chondrocytes respond to an altered heparan sulfate composition with distinct changes of heparan sulfate structure and increased levels of chondroitin sulfate.
Using mouse embryonic stem cell-derived mosaic tissues with compartments that lack Exostosin1 and Exostosin2, or Glypican5, it has been shown that Shh accumulates around its source cells when they are surrounded by cells that have a mutated extracellular matrix.
Title: Loss of the Heparan Sulfate Proteoglycan Glypican5 Facilitates Long-Range Sonic Hedgehog Signaling.
reactivating SHH signaling in mutant lungs rescued the tip dilation phenotype and attenuated FGF signaling. Importantly, the reduced SHH signaling activity did not appear to be caused by decreased Shh expression or protein stability; instead, biologically active form of SHH proteins were reduced in both the Ext1 mutant epithelium and surrounding wild type mesenchymal cells.
Title: Epithelial heparan sulfate regulates Sonic Hedgehog signaling in lung development.
crucial for outflow tract formation in distinct progenitor cells and modulates FGF signaling during early heart development
Title: Heparan Sulfate Biosynthesis Enzyme, Ext1, Contributes to Outflow Tract Development of Mouse Heart via Modulation of FGF Signaling.
Normal heparin sulfate levels and Ext1 activity in the stromal microenvironment and hematopoietic stem cells are required for the transplant engraftment following non-myeloablative conditioning.
Title: Effect of systemic heparan sulfate haploinsufficiency on steady state hematopoiesis and engraftment of hematopoietic stem cells.
Heterozygous loss of function of EXT1 and EXT2 results in a decreased arteriolar endothelial glycocalyx but improved flow mediated vasodilation.
Title: Loss of function in heparan sulfate elongation genes EXT1 and EXT 2 results in improved nitric oxide bioavailability and endothelial function.
Ext genes and heparan sulfate are needed to establish and maintain perichondrium's phenotype and border function.
Title: Perichondrium phenotype and border function are regulated by Ext1 and heparan sulfate in developing long bones: a mechanism likely deranged in Hereditary Multiple Exostoses.
Levels of Ext1 and HPSE influence the motility of FBJ osteosarcoma cells.
Title: Involvement of Ext1 and heparanase in migration of mouse FBJ osteosarcoma cells.

Submit: New GeneRIF Correction See all GeneRIFs (24)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Gene trapped (1) 1 citation
Spontaneous (1)
Targeted (8) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

EXT1 (e-PCR)
- UniSTS:504374

RH124810 (e-PCR)
- UniSTS:161632

RH124561 (e-PCR)
- UniSTS:161383

D15Mit232 (e-PCR), detects polymorphism
- UniSTS:127604

D15Mit25 (e-PCR), detects polymorphism
- UniSTS:127621

ECD12225 (e-PCR)
- UniSTS:293258

RH138727 (e-PCR)
- UniSTS:220814

RH124390 (e-PCR)
- UniSTS:161212

Ext1 (e-PCR), detects polymorphism
- UniSTS:143046

RH125649 (e-PCR)
- UniSTS:142028

REN13326 (e-PCR)
- UniSTS:338126

REN13329 (e-PCR)
- UniSTS:338129

REN13331 (e-PCR)
- UniSTS:338131

REN13332 (e-PCR)
- UniSTS:338132

ECD12830 (e-PCR)
- UniSTS:293862

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity	IGI Inferred from Genetic Interaction more info	PubMed
enables N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity	ISO Inferred from Sequence Orthology more info
enables acetylglucosaminyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	IGI Inferred from Genetic Interaction more info	PubMed
contributes_to glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	ISO Inferred from Sequence Orthology more info
enables glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	ISO Inferred from Sequence Orthology more info
enables glucuronosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables glycosyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein heterodimerization activity	IEA Inferred from Electronic Annotation more info
enables protein heterodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	IEA Inferred from Electronic Annotation more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within BMP signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within BMP signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within antigen processing and presentation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within axon guidance	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within axon guidance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within_positive_effect axon guidance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within basement membrane organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within blood vessel remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within bone growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within bone morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within bone resorption	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within brain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within_positive_effect brain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cartilage development involved in endochondral bone morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell adhesion mediated by integrin	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell fate commitment	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within_positive_effect cell morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within_positive_effect cell surface receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_positive_effect cell surface receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cellular component organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cellular response to BMP stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cellular response to fibroblast growth factor stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cellular response to virus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within chemokine production	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within chondrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within chondrocyte hypertrophy	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within chondrocyte proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within chondroitin sulfate metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within collagen fibril organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cranial skeletal system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within dendrite self-avoidance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within dendritic cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within developmental growth involved in morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within_positive_effect embryonic morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic skeletal joint development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endochondral bone growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endochondral bone morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within endochondral bone morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endochondral ossification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endoderm development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within_positive_effect endoderm development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within epithelial tube branching involved in lung morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within epithelium development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within fear response	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within fibroblast growth factor receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within fibroblast growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within_positive_effect fibroblast growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within fluid transport	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within gastrulation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within_positive_effect gastrulation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glandular epithelial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glomerular basement membrane development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glycosaminoglycan biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within hair cycle process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hair follicle morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart contraction	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within heart field specification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hematopoietic progenitor cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hematopoietic stem cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hematopoietic stem cell homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hematopoietic stem cell migration to bone marrow	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heparan sulfate proteoglycan biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within heparan sulfate proteoglycan biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heparan sulfate proteoglycan biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heparan sulfate proteoglycan biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within heparin biosynthetic process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within heparin biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within_positive_effect heparin biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heparin metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hypersensitivity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within leukocyte tethering or rolling	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within limb joint morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lymphocyte adhesion to endothelial cell of high endothelial venule	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lymphocyte migration into lymphoid organs	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mesenchymal cell differentiation involved in bone development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mesenchyme development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mesoderm development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within_positive_effect mesoderm development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within motor behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organismal-level water homeostasis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within neural crest cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron projection development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within olfactory bulb development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within optic nerve development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ossification	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within ossification involved in bone maturation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within perichondral bone morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within_positive_effect podocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in polysaccharide biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein glycosylation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within protein-containing complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within proteoglycan biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of blood pressure	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of tumor necrosis factor-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to growth factor	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to heparin	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to leukemia inhibitory factor	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to light intensity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to virus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sebaceous gland development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within smoothened signaling pathway involved in lung development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within social behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sodium ion homeostasis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within stem cell division	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within stomach development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within_negative_effect sulfation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within sulfation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sweat gland development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within synaptic transmission, glutamatergic	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within tight junction organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within vacuole organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within vasodilation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within vocalization behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within wound healing	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
is_active_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
part_of catalytic complex	ISO Inferred from Sequence Orthology more info
part_of catalytic complex	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: exostosin-1

Names: N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase; exostoses (multiple) 1; glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; multiple exostoses protein 1 homolog

NP_034292.2

EC 2.4.1.225

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.