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    Large1 LARGE xylosyl- and glucuronyltransferase 1 [ Mus musculus (house mouse) ]

    Gene ID: 16795, updated on 25-May-2017
    Official Symbol
    Large1provided by MGI
    Official Full Name
    LARGE xylosyl- and glucuronyltransferase 1provided by MGI
    Primary source
    MGI:MGI:1342270
    See related
    Ensembl:ENSMUSG00000004383 Vega:OTTMUSG00000030306
    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
    fg; enr; myd; Mbp1; Large; Mbp-1; froggy; BPFD#36; Gyltl1a
    Orthologs
    Location:
    8 B3.3; 8 35.08 cM
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 8 NC_000074.6 (72814598..73353577, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 8 NC_000074.5 (75338498..75876455, complement)

    Chromosome 8 - NC_000074.6Genomic Context describing neighboring genes Neighboring gene predicted gene, 39198 Neighboring gene coagulation factor II (thrombin) receptor-like 3 Neighboring gene microRNA 28b Neighboring gene keratin 18 pseudogene Neighboring gene complement receptor related protein, pseudogene

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    enervated
    GeneReviews: Not available

    Alleles

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

    Markers

    Homology

    Clone Names

    • mKIAA0609

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    glucuronosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glucuronosyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
     
    manganese ion binding ISO
    Inferred from Sequence Orthology
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    transferase activity, transferring glycosyl groups IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transferase activity, transferring glycosyl groups NAS
    Non-traceable Author Statement
    more info
    PubMed 
    xylosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    xylosyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    glycoprotein biosynthetic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    muscle cell cellular homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein O-linked mannosylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein O-linked mannosylation ISO
    Inferred from Sequence Orthology
    more info
     
    skeletal muscle organ development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    skeletal muscle tissue regeneration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    LARGE xylosyl- and glucuronyltransferase 1; glycosyltransferase-like protein LARGE1
    Names
    acetylglucosaminyltransferase-like 1A
    like-glycosyltransferase
    myodystrophy
    NP_001304320.1
    NP_034817.1
    XP_011246620.1

    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_001317391.1NP_001304320.1  LARGE xylosyl- and glucuronyltransferase 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC115798, AC157365, AC158562, AC171678, AC171917
      Consensus CDS
      CCDS22420.1
      UniProtKB/Swiss-Prot
      Q9Z1M7
      UniProtKB/TrEMBL
      Q059X9
      Related
      ENSMUSP00000148336.1, OTTMUSP00000078594, ENSMUST00000212459.1, OTTMUST00000151560
      Conserved Domains (3) summary
      cd06431
      Location:138417
      GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
      COG1442
      Location:136386
      RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]
      pfam13896
      Location:473742
      Glyco_transf_49; Glycosyl-transferase for dystroglycan
    2. NM_010687.2NP_034817.1  LARGE xylosyl- and glucuronyltransferase 1

      See identical proteins and their annotated locations for NP_034817.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC157365, AJ006278, AK133940, AW490661, BQ442282, CN699283
      Consensus CDS
      CCDS22420.1
      UniProtKB/Swiss-Prot
      Q9Z1M7
      UniProtKB/TrEMBL
      Q059X9
      Related
      ENSMUSP00000004497.9, ENSMUST00000004497.10
      Conserved Domains (3) summary
      cd06431
      Location:138417
      GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
      COG1442
      Location:136386
      RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]
      pfam13896
      Location:473742
      Glyco_transf_49; Glycosyl-transferase for dystroglycan

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106 details...Open this link in a new tab

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000074.6 Reference GRCm38.p4 C57BL/6J

      Range
      72814598..73353577 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011248318.2XP_011246620.1  glycosyltransferase-like protein LARGE1 isoform X1

      Conserved Domains (3) summary
      cd06431
      Location:138417
      GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
      COG1442
      Location:136386
      RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]
      pfam13896
      Location:473625
      Glyco_transf_49; Glycosyl-transferase for dystroglycan

    Reference GRCm38.p4 129S6/SvEvTac

    Genomic

    1. NT_039470.1 Reference GRCm38.p4 129S6/SvEvTac

      Range
      104568..244274
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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