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

Gene ID: 14042, updated on 8-Feb-2024

Summary

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 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]
Expression
Ubiquitous expression in limb E14.5 (RPKM 15.9), CNS E11.5 (RPKM 14.4) and 28 other tissues See more
Orthologs
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Genomic context

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_000081.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E11589 Neighboring gene STARR-positive B cell enhancer mm9_chr15:52589740-52590041 Neighboring gene mediator complex subunit 30 Neighboring gene predicted gene, 34794 Neighboring gene STARR-seq mESC enhancer starr_38668 Neighboring gene STARR-seq mESC enhancer starr_38673 Neighboring gene STARR-seq mESC enhancer starr_38674 Neighboring gene STARR-seq mESC enhancer starr_38679 Neighboring gene STARR-seq mESC enhancer starr_38681 Neighboring gene STARR-positive B cell enhancer mm9_chr15:53231912-53232213 Neighboring gene STARR-seq mESC enhancer starr_38683 Neighboring gene STARR-positive B cell enhancer mm9_chr15:53246502-53246803 Neighboring gene predicted gene, 27926 Neighboring gene sterile alpha motif domain containing 12 Neighboring gene STARR-seq mESC enhancer starr_38684 Neighboring gene predicted gene, 23200

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 ISO
Inferred from Sequence Orthology
more info
 
enables protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
 
enables transferase activity IEA
Inferred from Electronic Annotation
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
 
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
 
part_of catalytic complex ISO
Inferred from Sequence Orthology
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 membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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.

mRNA and Protein(s)

  1. NM_010162.2NP_034292.2  exostosin-1

    See identical proteins and their annotated locations for NP_034292.2

    Status: VALIDATED

    Source sequence(s)
    AK132327, BI133786, CJ045320
    Consensus CDS
    CCDS27466.1
    UniProtKB/Swiss-Prot
    P97464, Q61546
    UniProtKB/TrEMBL
    Q3V1P4
    Related
    ENSMUSP00000076505.3, ENSMUST00000077273.9
    Conserved Domains (2) summary
    pfam03016
    Location:110396
    Exostosin; Exostosin family
    pfam09258
    Location:480725
    Glyco_transf_64; Glycosyl transferase family 64 domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000081.7 Reference GRCm39 C57BL/6J

    Range
    52931657..53209579 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)