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

    Gene ID: 16795, updated on 9-Dec-2024

    Summary

    Official Symbol
    Large1provided by MGI
    Official Full Name
    LARGE xylosyl- and glucuronyltransferase 1provided by MGI
    Primary source
    MGI:MGI:1342270
    See related
    Ensembl:ENSMUSG00000004383 AllianceGenome:MGI:1342270
    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
    Summary
    Enables glucuronosyltransferase activity and xylosyltransferase activity. Involved in several processes, including muscle cell cellular homeostasis; protein O-linked mannosylation; and skeletal muscle tissue regeneration. Acts upstream of or within several processes, including nervous system development; retina development in camera-type eye; and striated muscle cell differentiation. Located in Golgi membrane. Part of protein-containing complex. Is active in Golgi apparatus; neuromuscular junction; and plasma membrane. Is expressed in central nervous system; dorsal root ganglion; and retina. Used to study facioscapulohumeral muscular dystrophy; muscular dystrophy-dystroglycanopathy type B1; and muscular dystrophy-dystroglycanopathy type B6. Human ortholog(s) of this gene implicated in congenital muscular dystrophy-dystroglycanopathy type A6 and muscular dystrophy-dystroglycanopathy type B6. Orthologous to human LARGE1 (LARGE xylosyl- and glucuronyltransferase 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in cortex adult (RPKM 16.0), frontal lobe adult (RPKM 14.9) and 24 other tissues See more
    Orthologs
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    Genomic context

    See Large1 in Genome Data Viewer
    Location:
    8 B3.3; 8 35.08 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (73541227..74080164, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (72814598..73353721, complement)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_21884 Neighboring gene predicted gene, 39198 Neighboring gene STARR-seq mESC enhancer starr_21885 Neighboring gene F2R like thrombin or trypsin receptor 3 Neighboring gene STARR-seq mESC enhancer starr_21886 Neighboring gene STARR-seq mESC enhancer starr_21887 Neighboring gene STARR-seq mESC enhancer starr_21888 Neighboring gene microRNA 28b Neighboring gene STARR-seq mESC enhancer starr_21889 Neighboring gene STARR-seq mESC enhancer starr_21892 Neighboring gene predicted gene, 53439 Neighboring gene STARR-seq mESC enhancer starr_21896 Neighboring gene keratin 18 pseudogene Neighboring gene complement receptor related protein, pseudogene

    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?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (4 hits/76 screens)

    Associated conditions

    Description Tests
    enervated
    GeneReviews: Not available

    Variation

    Alleles

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

    Pathways from PubChem

    General gene information

    Clone Names

    • mKIAA0609

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables glucuronosyltransferase activity  
    enables glucuronosyltransferase activity PubMed 
    enables glucuronosyltransferase activity  
    enables glycosyltransferase activity PubMed 
    enables glycosyltransferase activity PubMed 
    enables hexosyltransferase activity PubMed 
    enables hexosyltransferase activity  
    enables manganese ion binding  
    enables manganese ion binding  
    enables protein binding PubMed 
    enables xylosyltransferase activity  
    enables xylosyltransferase activity PubMed 
    enables xylosyltransferase activity  
    Items 1 - 25 of 106
    Process Evidence Code Pubs
    acts_upstream_of_or_within acetylcholine receptor signaling pathway PubMed 
    acts_upstream_of_or_within astrocyte differentiation PubMed 
    acts_upstream_of_or_within basement membrane organization PubMed 
    acts_upstream_of_or_within behavioral fear response PubMed 
    acts_upstream_of_or_within blood vessel development PubMed 
    acts_upstream_of_or_within bone development PubMed 
    acts_upstream_of_or_within brain development PubMed 
    acts_upstream_of_or_within brain development PubMed 
    acts_upstream_of_or_within cardiac muscle cell development PubMed 
    acts_upstream_of_or_within cardiac muscle tissue development PubMed 
    acts_upstream_of_or_within cellular component organization PubMed 
    acts_upstream_of_or_within chemical synaptic transmission PubMed 
    acts_upstream_of_or_within chemical synaptic transmission PubMed 
    acts_upstream_of_or_within connective tissue development PubMed 
    acts_upstream_of_or_within connective tissue development PubMed 
    acts_upstream_of_or_within connective tissue development PubMed 
    acts_upstream_of_or_within cytoskeleton organization PubMed 
    acts_upstream_of_or_within dentate gyrus development PubMed 
    acts_upstream_of_or_within determination of adult lifespan PubMed 
    acts_upstream_of_or_within determination of adult lifespan PubMed 
    acts_upstream_of_or_within gene expression PubMed 
    acts_upstream_of_or_within gene expression PubMed 
    acts_upstream_of_or_within gene expression PubMed 
    acts_upstream_of_or_within glycoprotein biosynthetic process PubMed 
    acts_upstream_of_or_within glycoprotein biosynthetic process PubMed 
    involved_in glycoprotein biosynthetic process PubMed 
    acts_upstream_of_or_within glycoprotein metabolic process PubMed 
    acts_upstream_of_or_within heart development PubMed 
    acts_upstream_of_or_within intracellular protein transport PubMed 
    acts_upstream_of_or_within intracellular protein transport PubMed 
    acts_upstream_of_or_within limb development PubMed 
    acts_upstream_of_or_within localization of cell PubMed 
    acts_upstream_of_or_within long-term synaptic potentiation PubMed 
    acts_upstream_of_or_within macrophage differentiation PubMed 
    acts_upstream_of_or_within macrophage differentiation PubMed 
    acts_upstream_of_or_within memory PubMed 
    acts_upstream_of_or_within multicellular organism growth PubMed 
    acts_upstream_of_or_within multicellular organism growth PubMed 
    acts_upstream_of_or_within multicellular organism growth PubMed 
    acts_upstream_of_or_within multicellular organismal reproductive process PubMed 
    involved_in muscle cell cellular homeostasis PubMed 
    acts_upstream_of_or_within muscle organ development PubMed 
    acts_upstream_of_or_within myelination PubMed 
    acts_upstream_of_or_within myotube differentiation PubMed 
    acts_upstream_of_or_within nerve development PubMed 
    acts_upstream_of_or_within neuromuscular junction development PubMed 
    acts_upstream_of_or_within neuromuscular junction development PubMed 
    acts_upstream_of_or_within neuromuscular process PubMed 
    acts_upstream_of_or_within neuromuscular process controlling posture PubMed 
    acts_upstream_of_or_within neuromuscular synaptic transmission PubMed 
    acts_upstream_of_or_within neuromuscular synaptic transmission PubMed 
    acts_upstream_of_or_within neuron migration PubMed 
    acts_upstream_of_or_within plasma membrane organization PubMed 
    acts_upstream_of_or_within post-embryonic hindlimb morphogenesis PubMed 
    acts_upstream_of_or_within post-translational protein modification PubMed 
    acts_upstream_of_or_within potassium ion transmembrane transport PubMed 
    acts_upstream_of_or_within principal sensory nucleus of trigeminal nerve development PubMed 
    acts_upstream_of_or_within protein O-linked glycosylation PubMed 
    involved_in protein O-linked mannosylation  
    involved_in protein O-linked mannosylation PubMed 
    involved_in protein O-linked mannosylation  
    acts_upstream_of_or_within protein deglycosylation PubMed 
    acts_upstream_of_or_within protein glycosylation PubMed 
    acts_upstream_of_or_within protein glycosylation PubMed 
    acts_upstream_of_or_within protein glycosylation PubMed 
    involved_in protein glycosylation PubMed 
    involved_in protein glycosylation  
    acts_upstream_of_or_within protein localization PubMed 
    acts_upstream_of_or_within protein localization to membrane PubMed 
    acts_upstream_of_or_within protein localization to plasma membrane PubMed 
    acts_upstream_of_or_within protein modification process PubMed 
    acts_upstream_of_or_within protein modification process PubMed 
    acts_upstream_of_or_within protein phosphorylation PubMed 
    acts_upstream_of_or_within protein targeting to membrane PubMed 
    acts_upstream_of_or_within protein targeting to membrane PubMed 
    acts_upstream_of_or_within protein-containing complex assembly PubMed 
    acts_upstream_of_or_within reactive gliosis PubMed 
    acts_upstream_of_or_within regulation of kinase activity PubMed 
    acts_upstream_of_or_within regulation of kinase activity PubMed 
    acts_upstream_of_or_within regulation of protein binding PubMed 
    acts_upstream_of_or_within regulation of protein binding PubMed 
    acts_upstream_of_or_within regulation of synaptic plasticity PubMed 
    acts_upstream_of_or_within response to light stimulus PubMed 
    acts_upstream_of_or_within response to mechanical stimulus PubMed 
    acts_upstream_of_or_within retina development in camera-type eye PubMed 
    acts_upstream_of_or_within retina layer formation PubMed 
    acts_upstream_of_or_within retina vasculature development in camera-type eye PubMed 
    acts_upstream_of_or_within sensory perception of sound PubMed 
    acts_upstream_of_or_within skeletal muscle fiber development PubMed 
    acts_upstream_of_or_within skeletal muscle fiber differentiation PubMed 
    acts_upstream_of_or_within skeletal muscle fiber differentiation PubMed 
    involved_in skeletal muscle organ development PubMed 
    acts_upstream_of_or_within skeletal muscle tissue regeneration PubMed 
    involved_in skeletal muscle tissue regeneration PubMed 
    acts_upstream_of_or_within skeletal muscle tissue regeneration PubMed 
    acts_upstream_of_or_within striated muscle cell development PubMed 
    acts_upstream_of_or_within striated muscle cell development PubMed 
    acts_upstream_of_or_within striated muscle cell development PubMed 
    acts_upstream_of_or_within striated muscle contraction PubMed 
    acts_upstream_of_or_within striated muscle contraction PubMed 
    acts_upstream_of_or_within striated muscle contraction PubMed 
    acts_upstream_of_or_within synapse organization PubMed 
    acts_upstream_of_or_within synaptic assembly at neuromuscular junction PubMed 
    acts_upstream_of_or_within transmembrane transport PubMed 
    acts_upstream_of_or_within walking behavior PubMed 
    acts_upstream_of_or_within water transport PubMed 
    Items 1 - 25 of 106
    Component Evidence Code Pubs
    is_active_in Golgi apparatus  
    is_active_in Golgi apparatus PubMed 
    is_active_in Golgi apparatus PubMed 
    located_in Golgi apparatus  
    located_in Golgi apparatus  
    located_in Golgi membrane PubMed 
    located_in intracellular membrane-bounded organelle PubMed 
    is_active_in neuromuscular junction PubMed 
    is_active_in plasma membrane PubMed 
    part_of protein-containing complex PubMed 

    General protein information

    Preferred Names
    xylosyl- and glucuronyltransferase LARGE1
    Names
    acetylglucosaminyltransferase-like 1A
    glycosyltransferase-like protein LARGE1
    like-glycosyltransferase
    myodystrophy
    NP_001304320.1
    NP_001400977.1
    NP_001400978.1
    NP_034817.1
    XP_030099172.1

    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_001317391.2NP_001304320.1  xylosyl- and glucuronyltransferase LARGE1 isoform 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
      Q497S9, Q6P7U2, Q80TW0, Q9Z1M7
      UniProtKB/TrEMBL
      D9IG22, Q059X9
      Related
      ENSMUSP00000148336.2, ENSMUST00000212459.2
      Conserved Domains (2) summary
      cd06431
      Location:138417
      GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
      pfam13896
      Location:473742
      Glyco_transf_49; Glycosyl-transferase for dystroglycan
    2. NM_001414048.1NP_001400977.1  xylosyl- and glucuronyltransferase LARGE1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC115798, AC157365, AC158562, AC171678, AC171917
    3. NM_001414049.1NP_001400978.1  xylosyl- and glucuronyltransferase LARGE1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC115798, AC157365, AC158562
    4. NM_010687.3NP_034817.1  xylosyl- and glucuronyltransferase LARGE1 isoform 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)
      AC115798, AC157365, AC158562, AC171678, AC171917
      Consensus CDS
      CCDS22420.1
      UniProtKB/Swiss-Prot
      Q497S9, Q6P7U2, Q80TW0, Q9Z1M7
      UniProtKB/TrEMBL
      D9IG22, Q059X9
      Related
      ENSMUSP00000004497.10, ENSMUST00000004497.11
      Conserved Domains (2) summary
      cd06431
      Location:138417
      GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
      pfam13896
      Location:473742
      Glyco_transf_49; Glycosyl-transferase for dystroglycan

    RNA

    1. NR_182234.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC115798, AC157365, AC158562, AC171678, AC171917

    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_000074.7 Reference GRCm39 C57BL/6J

      Range
      73541227..74080164 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030243312.2XP_030099172.1  xylosyl- and glucuronyltransferase LARGE1 isoform X1

      UniProtKB/TrEMBL
      D9IG22
      Conserved Domains (2) summary
      cd06431
      Location:35314
      GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
      pfam13896
      Location:370639
      Glyco_transf_49; Glycosyl-transferase for dystroglycan
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