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    Ext1 exostoses (multiple) 1 [ Mus musculus (house mouse) ]

    Gene ID: 14042, updated on 31-Jul-2018

    Summary

    Official Symbol
    Ext1provided by MGI
    Official Full Name
    exostoses (multiple) 1provided by MGI
    Primary source
    MGI:MGI:894663
    See related
    Ensembl:ENSMUSG00000061731 Vega:OTTMUSG00000019491
    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
    Also known as
    AA409028
    Expression
    Ubiquitous expression in limb E14.5 (RPKM 15.9), CNS E11.5 (RPKM 14.4) and 28 other tissues See more
    Orthologs

    Genomic context

    See Ext1 in Genome Data Viewer
    Location:
    15 C; 15 20.0 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 15 NC_000081.6 (53068261..53346183, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 15 NC_000081.5 (52899816..53177738, complement)

    Chromosome 15 - NC_000081.6Genomic Context describing neighboring genes Neighboring gene predicted gene, 41323 Neighboring gene mediator complex subunit 30 Neighboring gene predicted gene, 34794 Neighboring gene sterile alpha motif domain containing 12 Neighboring gene microRNA 28c Neighboring gene tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)

    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 FunctionsWhat's a GeneRIF?

    Variation

    Alleles

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

    Pathways from BioSystems

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acetylglucosaminyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
     
    glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glucuronosyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein heterodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    transferase activity, transferring glycosyl groups ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    axon guidance IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    axon guidance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    brain development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular polysaccharide biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    embryonic skeletal joint development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    endoderm development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    gastrulation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    glycosaminoglycan biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    heparan sulfate proteoglycan biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    heparan sulfate proteoglycan biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    mesoderm development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    olfactory bulb development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ossification ISO
    Inferred from Sequence Orthology
    more info
     
    protein glycosylation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
     
    endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
     
    integral component of endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    exostosin-1
    Names
    glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
    multiple exostoses protein 1 homolog
    NP_034292.2

    NCBI Reference Sequences (RefSeq)

    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
      UniProtKB/TrEMBL
      Q3V1P4
      Related
      ENSMUSP00000076505.2, OTTMUSP00000021013, ENSMUST00000077273.8, OTTMUST00000046534
      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: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000081.6 Reference GRCm38.p4 C57BL/6J

      Range
      53068261..53346183 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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