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    Extl1 exostosin-like glycosyltransferase 1 [ Mus musculus (house mouse) ]

    Gene ID: 56219, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Extl1provided by MGI
    Official Full Name
    exostosin-like glycosyltransferase 1provided by MGI
    Primary source
    MGI:MGI:1888742
    See related
    Ensembl:ENSMUSG00000028838 AllianceGenome:MGI:1888742
    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
    D430033M16Rik
    Summary
    Predicted to enable acetylglucosaminyltransferase activity and glucuronosyltransferase activity. Predicted to be involved in protein glycosylation. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be integral component of membrane. Predicted to be active in Golgi apparatus. Is expressed in several structures, including cranium; jaw; limb; nose; and sclerotome. Orthologous to human EXTL1 (exostosin like glycosyltransferase 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in cortex adult (RPKM 13.0), frontal lobe adult (RPKM 8.2) and 18 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    4 D2.3; 4 66.63 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (134083684..134099893, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (134356373..134372547, complement)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene tripartite motif-containing 63 Neighboring gene STARR-seq mESC enhancer starr_11671 Neighboring gene solute carrier family 30 (zinc transporter), member 2 Neighboring gene STARR-seq mESC enhancer starr_11675 Neighboring gene STARR-positive B cell enhancer ABC_E3526 Neighboring gene STARR-seq mESC enhancer starr_11677 Neighboring gene platelet-activating factor acetylhydrolase 2 Neighboring gene predicted gene, 30453

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Glycosyltransferase Extl1 promotes CCR7-mediated dendritic cell migration to restrain infection and autoimmunity. Liu J, et al. Cell Rep, 2023 Jan 31. PMID 36656709
    2. Assignment of the mouse Extl1 gene to the distal part of chromosome 4 by in situ hybridization and radiation hybrid mapping. Mathysen D, et al. Cytogenet Cell Genet, 2001. PMID 11306818
    3. EXT genes are differentially expressed in bone and cartilage during mouse embryogenesis. Stickens D, et al. Dev Dyn, 2000 Jul. PMID 10878610
    4. Dynamic Expression of Genes Involved in Proteoglycan/Glycosaminoglycan Metabolism during Skin Development. Uijtdewilligen PJE, et al. Biomed Res Int, 2018. PMID 30228991, Free PMC Article
    5. GenePaint.org: an atlas of gene expression patterns in the mouse embryo. Visel A, et al. Nucleic Acids Res, 2004 Jan 1. PMID 14681479, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables acetylglucosaminyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in heparan sulfate proteoglycan biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein glycosylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    exostosin-like 1
    Names
    Exostosin-like 1 (Exostosin-L) (Multiple exostosis-like protein)
    exostoses (multiple)-like 1
    exostoses-like 1
    exostosin-L
    glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
    multiple exostoses-like 1
    multiple exostosis-like protein
    NP_001342422.1
    NP_062524.2
    XP_006539121.1

    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.

    mRNA and Protein(s)

    1. NM_001355493.1 → NP_001342422.1  exostosin-like 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AK085075, AK161915, AL669982, BE943744
      Conserved Domains (2) summary
      pfam03016
      Location:15 → 59
      Exostosin; Exostosin family
      pfam09258
      Location:143 → 379
      Glyco_transf_64; Glycosyl transferase family 64 domain

    2. NM_019578.2 → NP_062524.2  exostosin-like 1 isoform 1

      See identical proteins and their annotated locations for NP_062524.2

      Status: VALIDATED

      Source sequence(s)
      AF224461, AK085075, AK161915
      Consensus CDS
      CCDS18770.1
      UniProtKB/Swiss-Prot
      E9QKA3, Q9JKV7
      UniProtKB/TrEMBL
      Q0VAW4
      Related
      ENSMUSP00000030643.3, ENSMUST00000030643.3
      Conserved Domains (2) summary
      pfam03016
      Location:89 → 328
      Exostosin; Exostosin family
      pfam09258
      Location:412 → 648
      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_000070.7 Reference GRCm39 C57BL/6J

      Range
      134083684..134099893 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006539058.2 → XP_006539121.1  exostosin-like 1 isoform X1

      Conserved Domains (1) summary
      pfam09258
      Location:85 → 321
      Glyco_transf_64; Glycosyl transferase family 64 domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9JKV7.2 GenPept UniProtKB/Swiss-Prot:Q9JKV7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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