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

Gene ID: 228366, updated on 11-Apr-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, Apr 2022]
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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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. LARGE2-dependent glycosylation confers laminin-binding ability on proteoglycans. Inamori KI, et al. Glycobiology, 2016 Dec. PMID 27496765, Free PMC Article
  2. 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
  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 (25) 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)
  • Targeted (1) 
  • Endonuclease-mediated (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 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

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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

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