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

    Gene ID: 14042, updated on 9-Dec-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 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
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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

    General gene information

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity PubMed 
    enables N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity PubMed 
    enables N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity  
    enables acetylglucosaminyltransferase activity  
    enables glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity PubMed 
    enables glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity PubMed 
    contributes_to glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity  
    enables glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity  
    enables glucuronosyltransferase activity  
    enables glycosyltransferase activity PubMed 
    enables metal ion binding  
    enables protein heterodimerization activity  
    enables protein heterodimerization activity  
    enables protein homodimerization activity  
    enables protein homodimerization activity  
    Items 1 - 25 of 123
    Process Evidence Code Pubs
    acts_upstream_of_or_within BMP signaling pathway PubMed 
    acts_upstream_of_or_within BMP signaling pathway PubMed 
    acts_upstream_of_or_within antigen processing and presentation PubMed 
    acts_upstream_of_or_within axon guidance PubMed 
    acts_upstream_of_or_within axon guidance PubMed 
    acts_upstream_of_or_within_positive_effect axon guidance PubMed 
    acts_upstream_of_or_within basement membrane organization PubMed 
    acts_upstream_of_or_within blood vessel remodeling PubMed 
    acts_upstream_of_or_within bone growth PubMed 
    acts_upstream_of_or_within bone morphogenesis PubMed 
    acts_upstream_of_or_within bone resorption PubMed 
    acts_upstream_of_or_within brain development PubMed 
    acts_upstream_of_or_within_positive_effect brain development PubMed 
    acts_upstream_of_or_within canonical Wnt signaling pathway PubMed 
    acts_upstream_of_or_within cartilage development involved in endochondral bone morphogenesis PubMed 
    acts_upstream_of_or_within cell adhesion PubMed 
    acts_upstream_of_or_within cell adhesion mediated by integrin PubMed 
    acts_upstream_of_or_within cell fate commitment PubMed 
    acts_upstream_of_or_within_positive_effect cell morphogenesis PubMed 
    acts_upstream_of_or_within cell population proliferation PubMed 
    acts_upstream_of_or_within_positive_effect cell surface receptor signaling pathway PubMed 
    acts_upstream_of_positive_effect cell surface receptor signaling pathway PubMed 
    acts_upstream_of_or_within cellular component organization PubMed 
    acts_upstream_of_or_within cellular response to BMP stimulus PubMed 
    acts_upstream_of_or_within cellular response to fibroblast growth factor stimulus PubMed 
    acts_upstream_of_or_within cellular response to virus PubMed 
    acts_upstream_of_or_within chemokine production PubMed 
    acts_upstream_of_or_within chondrocyte differentiation PubMed 
    acts_upstream_of_or_within chondrocyte hypertrophy PubMed 
    acts_upstream_of_or_within chondrocyte proliferation PubMed 
    acts_upstream_of_or_within chondroitin sulfate metabolic process PubMed 
    acts_upstream_of_or_within collagen fibril organization PubMed 
    acts_upstream_of_or_within cranial skeletal system development PubMed 
    acts_upstream_of_or_within dendrite self-avoidance PubMed 
    acts_upstream_of_or_within dendritic cell migration PubMed 
    acts_upstream_of_or_within developmental growth involved in morphogenesis PubMed 
    acts_upstream_of_or_within_positive_effect embryonic morphogenesis PubMed 
    acts_upstream_of_or_within embryonic skeletal joint development PubMed 
    acts_upstream_of_or_within endochondral bone growth PubMed 
    acts_upstream_of_or_within endochondral bone morphogenesis PubMed 
    acts_upstream_of_or_within endochondral bone morphogenesis PubMed 
    acts_upstream_of_or_within endochondral ossification PubMed 
    acts_upstream_of_or_within endoderm development PubMed 
    acts_upstream_of_or_within_positive_effect endoderm development PubMed 
    acts_upstream_of_or_within epithelial tube branching involved in lung morphogenesis PubMed 
    acts_upstream_of_or_within epithelium development PubMed 
    acts_upstream_of_or_within fear response PubMed 
    acts_upstream_of_or_within fibroblast growth factor receptor signaling pathway PubMed 
    acts_upstream_of_or_within fibroblast growth factor receptor signaling pathway PubMed 
    acts_upstream_of_or_within_positive_effect fibroblast growth factor receptor signaling pathway PubMed 
    acts_upstream_of_or_within fluid transport PubMed 
    acts_upstream_of_or_within gastrulation PubMed 
    acts_upstream_of_or_within_positive_effect gastrulation PubMed 
    acts_upstream_of_or_within gene expression PubMed 
    acts_upstream_of_or_within glandular epithelial cell differentiation PubMed 
    acts_upstream_of_or_within glomerular basement membrane development PubMed 
    involved_in glycosaminoglycan biosynthetic process  
    acts_upstream_of_or_within hair cycle process PubMed 
    acts_upstream_of_or_within hair follicle morphogenesis PubMed 
    acts_upstream_of_or_within heart contraction PubMed 
    acts_upstream_of_or_within heart field specification PubMed 
    acts_upstream_of_or_within hematopoietic progenitor cell differentiation PubMed 
    acts_upstream_of_or_within hematopoietic stem cell differentiation PubMed 
    acts_upstream_of_or_within hematopoietic stem cell homeostasis PubMed 
    acts_upstream_of_or_within hematopoietic stem cell migration to bone marrow PubMed 
    involved_in heparan sulfate proteoglycan biosynthetic process PubMed 
    acts_upstream_of_or_within heparan sulfate proteoglycan biosynthetic process PubMed 
    involved_in heparan sulfate proteoglycan biosynthetic process PubMed 
    involved_in heparan sulfate proteoglycan biosynthetic process  
    involved_in heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process  
    involved_in heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process  
    acts_upstream_of_or_within heparin biosynthetic process PubMed 
    acts_upstream_of_or_within heparin biosynthetic process PubMed 
    acts_upstream_of_or_within_positive_effect heparin biosynthetic process PubMed 
    acts_upstream_of_or_within heparin metabolic process PubMed 
    acts_upstream_of_or_within hypersensitivity PubMed 
    acts_upstream_of_or_within leukocyte tethering or rolling PubMed 
    acts_upstream_of_or_within limb joint morphogenesis PubMed 
    acts_upstream_of_or_within lymphocyte adhesion to endothelial cell of high endothelial venule PubMed 
    acts_upstream_of_or_within lymphocyte migration into lymphoid organs PubMed 
    acts_upstream_of_or_within mesenchymal cell differentiation involved in bone development PubMed 
    acts_upstream_of_or_within mesenchyme development PubMed 
    acts_upstream_of_or_within mesoderm development PubMed 
    acts_upstream_of_or_within_positive_effect mesoderm development PubMed 
    acts_upstream_of_or_within motor behavior PubMed 
    acts_upstream_of_or_within multicellular organism growth PubMed 
    acts_upstream_of_or_within multicellular organismal-level water homeostasis PubMed 
    acts_upstream_of_or_within neural crest cell differentiation PubMed 
    acts_upstream_of_or_within neuron projection development PubMed 
    acts_upstream_of_or_within olfactory bulb development PubMed 
    acts_upstream_of_or_within optic nerve development PubMed 
    involved_in ossification  
    acts_upstream_of_or_within ossification involved in bone maturation PubMed 
    acts_upstream_of_or_within perichondral bone morphogenesis PubMed 
    acts_upstream_of_or_within_positive_effect podocyte differentiation PubMed 
    involved_in polysaccharide biosynthetic process  
    acts_upstream_of_or_within protein catabolic process PubMed 
    involved_in protein glycosylation  
    acts_upstream_of_or_within protein-containing complex assembly PubMed 
    acts_upstream_of_or_within proteoglycan biosynthetic process PubMed 
    acts_upstream_of_or_within regulation of blood pressure PubMed 
    acts_upstream_of_or_within regulation of tumor necrosis factor-mediated signaling pathway PubMed 
    acts_upstream_of_or_within response to growth factor PubMed 
    acts_upstream_of_or_within response to heparin PubMed 
    acts_upstream_of_or_within response to leukemia inhibitory factor PubMed 
    acts_upstream_of_or_within response to light intensity PubMed 
    acts_upstream_of_or_within response to virus PubMed 
    acts_upstream_of_or_within sebaceous gland development PubMed 
    acts_upstream_of_or_within smoothened signaling pathway PubMed 
    acts_upstream_of_or_within smoothened signaling pathway involved in lung development PubMed 
    acts_upstream_of_or_within social behavior PubMed 
    acts_upstream_of_or_within sodium ion homeostasis PubMed 
    acts_upstream_of_or_within stem cell division PubMed 
    acts_upstream_of_or_within stomach development PubMed 
    acts_upstream_of_or_within_negative_effect sulfation PubMed 
    acts_upstream_of_or_within sulfation PubMed 
    acts_upstream_of_or_within sweat gland development PubMed 
    acts_upstream_of_or_within synaptic transmission, glutamatergic PubMed 
    acts_upstream_of_or_within tight junction organization PubMed 
    acts_upstream_of_or_within vacuole organization PubMed 
    acts_upstream_of_or_within vasodilation PubMed 
    acts_upstream_of_or_within vocalization behavior PubMed 
    acts_upstream_of_or_within wound healing PubMed 
    Items 1 - 25 of 123
    Component Evidence Code Pubs
    is_active_in Golgi apparatus  
    is_active_in Golgi apparatus PubMed 
    is_active_in Golgi apparatus  
    located_in Golgi apparatus  
    located_in Golgi membrane  
    part_of catalytic complex  
    part_of catalytic complex  
    located_in endoplasmic reticulum  
    located_in endoplasmic reticulum membrane PubMed 
    located_in synapse  

    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)
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