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    Large2 LARGE xylosyl- and glucuronyltransferase 2 [ Mus musculus (house mouse) ]

    Gene ID: 228366, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Large2provided by MGI
    Official Full Name
    LARGE xylosyl- and glucuronyltransferase 2provided by MGI
    Primary source
    MGI:MGI:2443769
    See related
    Ensembl:ENSMUSG00000040434 AllianceGenome:MGI:2443769
    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
    Largel; Gyltl1b; mKIAA4105; 5730485C17Rik
    Summary
    Enables dystroglycan binding activity; glucuronosyltransferase activity; and xylosyltransferase activity. Involved in protein O-linked mannosylation. Located in intracellular membrane-bounded organelle. Is expressed in several structures, including alimentary system; lung; sensory organ; skin; and urinary system. Orthologous to human LARGE2 (LARGE xylosyl- and glucuronyltransferase 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in ovary adult (RPKM 27.2), kidney adult (RPKM 15.1) and 17 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Large2 in Genome Data Viewer
    Location:
    2 E1; 2 50.97 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (92195391..92201437, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (92365046..92371086, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E9520 Neighboring gene PHD finger protein 21A Neighboring gene STARR-seq mESC enhancer starr_05137 Neighboring gene microRNA 1955 Neighboring gene 60S ribosomal protein L34 pseudogene Neighboring gene STARR-seq mESC enhancer starr_05138 Neighboring gene STARR-positive B cell enhancer ABC_E1247 Neighboring gene STARR-positive B cell enhancer ABC_E4480 Neighboring gene peroxisomal biogenesis factor 16 Neighboring gene Frey regulator of sperm-oocyte fusion 1

    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. Mutation of Large, which encodes a putative glycosyltransferase, in an animal model of muscular dystrophy. Grewal PK, et al. Biochim Biophys Acta, 2002 Dec 19. PMID 12417403
    2. LARGE2-dependent glycosylation confers laminin-binding ability on proteoglycans. Inamori KI, et al. Glycobiology, 2016 Dec. PMID 27496765, Free PMC Article
    3. LARGE2 generates the same xylose- and glucuronic acid-containing glycan structures as LARGE. Ashikov A, et al. Glycobiology, 2013 Mar. PMID 23135544
    4. Xylosyl- and glucuronyltransferase functions of LARGE in α-dystroglycan modification are conserved in LARGE2. Inamori K, et al. Glycobiology, 2013 Mar. PMID 23125099, Free PMC Article
    5. Macrophage metalloelastase (MMP12) regulates adipose tissue expansion, insulin sensitivity, and expression of inducible nitric oxide synthase. Lee JT, et al. Endocrinology, 2014 Sep. PMID 24914938, Free PMC Article

    See all (26) 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 (1) 
    • Targeted (1) 

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA4105

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables dystroglycan binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables glucuronosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables glucuronosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables glycosyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables xylosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables xylosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein O-linked mannosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein O-linked mannosylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein O-linked mannosylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein O-linked mannosylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    xylosyl- and glucuronyltransferase LARGE2
    Names
    glycoslytransferase-like 1B
    glycosyltransferase-like 1B
    glycosyltransferase-like protein LARGE2

    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_001166633.2 → NP_001160105.1  xylosyl- and glucuronyltransferase LARGE2 isoform 2

      See identical proteins and their annotated locations for NP_001160105.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
      Source sequence(s)
      AI594129, AL731709, AY742915
      Consensus CDS
      CCDS50646.1
      UniProtKB/TrEMBL
      D9IG02
      Related
      ENSMUSP00000088070.5, ENSMUST00000090582.11
      Conserved Domains (2) summary
      pfam13896
      Location:367 → 600
      Glyco_transf_49; Glycosyl-transferase for dystroglycan
      cl11394
      Location:68 → 312
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

    2. NM_001290773.1 → NP_001277702.1  xylosyl- and glucuronyltransferase LARGE2 isoform 3

      See identical proteins and their annotated locations for NP_001277702.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in an isoform (3) that is 1 aa longer than isoform 1.
      Source sequence(s)
      AI594129, AL731709, AY742914
      Consensus CDS
      CCDS71104.1
      UniProtKB/TrEMBL
      D9IG02, Q14AT0
      Related
      ENSMUSP00000135400.2, ENSMUST00000176774.8
      Conserved Domains (3) summary
      cd06431
      Location:69 → 348
      GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
      COG1442
      Location:89 → 317
      RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]
      pfam13896
      Location:403 → 636
      Glyco_transf_49; Glycosyl-transferase for dystroglycan

    3. NM_001290774.1 → NP_001277703.1  xylosyl- and glucuronyltransferase LARGE2 isoform 4

      See identical proteins and their annotated locations for NP_001277703.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate exon in the 5' region, and it thus differs in its 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (4) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AI594129, AK077630, AL731709
      UniProtKB/TrEMBL
      D9IG02
      Conserved Domains (2) summary
      pfam13896
      Location:341 → 574
      Glyco_transf_49; Glycosyl-transferase for dystroglycan
      cl11394
      Location:33 → 286
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

    4. NM_001290775.1 → NP_001277704.1  xylosyl- and glucuronyltransferase LARGE2 isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site in the 5' region, and it thus differs in its 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (4) is shorter at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AI594129, AL731709, AY742914
      UniProtKB/TrEMBL
      D9IG02
      Conserved Domains (2) summary
      cd06431
      Location:2 → 281
      GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
      pfam13896
      Location:336 → 569
      Glyco_transf_49; Glycosyl-transferase for dystroglycan

    5. NM_172670.3 → NP_766258.2  xylosyl- and glucuronyltransferase LARGE2 isoform 1

      See identical proteins and their annotated locations for NP_766258.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AI594129, AL731709, AY742914
      Consensus CDS
      CCDS16443.2
      UniProtKB/Swiss-Prot
      A2AHG9, Q5XPT2, Q5XPT3, Q8BJZ8, Q8K253
      UniProtKB/TrEMBL
      D9IG02
      Related
      ENSMUSP00000064128.7, ENSMUST00000068586.13
      Conserved Domains (3) summary
      cd06431
      Location:68 → 347
      GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
      COG1442
      Location:88 → 316
      RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]
      pfam13896
      Location:402 → 635
      Glyco_transf_49; Glycosyl-transferase for dystroglycan

    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_000068.8 Reference GRCm39 C57BL/6J

      Range
      92195391..92201437 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011239459.4 → XP_011237761.1  xylosyl- and glucuronyltransferase LARGE2 isoform X3

      See identical proteins and their annotated locations for XP_011237761.1

      UniProtKB/TrEMBL
      D9IG02
      Conserved Domains (2) summary
      cd06431
      Location:68 → 366
      GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
      pfam13896
      Location:421 → 654
      Glyco_transf_49; Glycosyl-transferase for dystroglycan

    2. XM_006499256.5 → XP_006499319.1  xylosyl- and glucuronyltransferase LARGE2 isoform X5

      UniProtKB/TrEMBL
      D9IG02
      Conserved Domains (2) summary
      pfam13896
      Location:368 → 601
      Glyco_transf_49; Glycosyl-transferase for dystroglycan
      cl11394
      Location:69 → 313
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

    3. XM_011239461.4 → XP_011237763.1  xylosyl- and glucuronyltransferase LARGE2 isoform X4

      UniProtKB/TrEMBL
      D9IG02
      Conserved Domains (2) summary
      pfam13896
      Location:387 → 620
      Glyco_transf_49; Glycosyl-transferase for dystroglycan
      cl11394
      Location:69 → 332
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

    4. XM_011239458.4 → XP_011237760.1  xylosyl- and glucuronyltransferase LARGE2 isoform X2

      UniProtKB/TrEMBL
      D9IG02
      Conserved Domains (2) summary
      cd06431
      Location:69 → 367
      GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
      pfam13896
      Location:422 → 655
      Glyco_transf_49; Glycosyl-transferase for dystroglycan

    5. XM_006499254.5 → XP_006499317.1  xylosyl- and glucuronyltransferase LARGE2 isoform X1

      UniProtKB/TrEMBL
      A2AHG6, D9IG02
      Related
      ENSMUSP00000135024.2, ENSMUST00000176810.8
      Conserved Domains (2) summary
      cd06431
      Location:93 → 372
      GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
      pfam13896
      Location:427 → 660
      Glyco_transf_49; Glycosyl-transferase for dystroglycan

    6. XM_011239462.4 → XP_011237764.1  xylosyl- and glucuronyltransferase LARGE2 isoform X6

      UniProtKB/TrEMBL
      D9IG02
      Conserved Domains (2) summary
      pfam13896
      Location:360 → 593
      Glyco_transf_49; Glycosyl-transferase for dystroglycan
      cl11394
      Location:33 → 305
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

    RNA

    1. XR_866268.4 RNA Sequence

      Related
      ENSMUST00000148352.8
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5XPT3.1 GenPept UniProtKB/Swiss-Prot:Q5XPT3

    Gene LinkOut

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

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