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

    Gene ID: 228366, updated on 11-Apr-2024

    Summary

    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, Apr 2022]
    Expression
    Broad expression in ovary adult (RPKM 27.2), kidney adult (RPKM 15.1) and 17 other tissues See more
    Orthologs
    NEW
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    Genomic context

    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

    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

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (1) 
    • Endonuclease-mediated (1) 

    Pathways from PubChem

    General gene information

    Markers

    Clone Names

    • KIAA4105

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    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 transferase activity 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
    acts_upstream_of_or_within metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    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
     
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001166633.2NP_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:367600
      Glyco_transf_49; Glycosyl-transferase for dystroglycan
      cl11394
      Location:68312
      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_001290773.1NP_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:69348
      GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
      COG1442
      Location:89317
      RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]
      pfam13896
      Location:403636
      Glyco_transf_49; Glycosyl-transferase for dystroglycan
    3. NM_001290774.1NP_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:341574
      Glyco_transf_49; Glycosyl-transferase for dystroglycan
      cl11394
      Location:33286
      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_001290775.1NP_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:2281
      GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
      pfam13896
      Location:336569
      Glyco_transf_49; Glycosyl-transferase for dystroglycan
    5. NM_172670.3NP_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:68347
      GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
      COG1442
      Location:88316
      RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]
      pfam13896
      Location:402635
      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_011239459.4XP_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:68366
      GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
      pfam13896
      Location:421654
      Glyco_transf_49; Glycosyl-transferase for dystroglycan
    2. XM_006499256.5XP_006499319.1  xylosyl- and glucuronyltransferase LARGE2 isoform X5

      UniProtKB/TrEMBL
      D9IG02
      Conserved Domains (2) summary
      pfam13896
      Location:368601
      Glyco_transf_49; Glycosyl-transferase for dystroglycan
      cl11394
      Location:69313
      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_011239461.4XP_011237763.1  xylosyl- and glucuronyltransferase LARGE2 isoform X4

      UniProtKB/TrEMBL
      D9IG02
      Conserved Domains (2) summary
      pfam13896
      Location:387620
      Glyco_transf_49; Glycosyl-transferase for dystroglycan
      cl11394
      Location:69332
      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_011239458.4XP_011237760.1  xylosyl- and glucuronyltransferase LARGE2 isoform X2

      UniProtKB/TrEMBL
      D9IG02
      Conserved Domains (2) summary
      cd06431
      Location:69367
      GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
      pfam13896
      Location:422655
      Glyco_transf_49; Glycosyl-transferase for dystroglycan
    5. XM_006499254.5XP_006499317.1  xylosyl- and glucuronyltransferase LARGE2 isoform X1

      UniProtKB/TrEMBL
      A2AHG6, D9IG02
      Related
      ENSMUSP00000135024.2, ENSMUST00000176810.8
      Conserved Domains (2) summary
      cd06431
      Location:93372
      GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
      pfam13896
      Location:427660
      Glyco_transf_49; Glycosyl-transferase for dystroglycan
    6. XM_011239462.4XP_011237764.1  xylosyl- and glucuronyltransferase LARGE2 isoform X6

      UniProtKB/TrEMBL
      D9IG02
      Conserved Domains (2) summary
      pfam13896
      Location:360593
      Glyco_transf_49; Glycosyl-transferase for dystroglycan
      cl11394
      Location:33305
      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