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

Gene ID: 16795, updated on 25-May-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 organ development. Located in intracellular membrane-bounded organelle. Is expressed in nervous system and retina. Used to study facioscapulohumeral muscular dystrophy; muscular dystrophy-dystroglycanopathy; 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, Apr 2022]
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

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

Markers

Clone Names

  • mKIAA0609

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables catalytic activity IEA
Inferred from Electronic Annotation
more info
 
enables glucuronosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables glucuronosyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables glucuronosyltransferase activity ISO
Inferred from Sequence Orthology
more info
 
enables glycosyltransferase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables glycosyltransferase activity NAS
Non-traceable Author Statement
more info
PubMed 
enables hexosyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables hexosyltransferase activity ISO
Inferred from Sequence Orthology
more info
 
enables manganese ion binding ISO
Inferred from Sequence Orthology
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 
enables xylosyltransferase activity ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
acts_upstream_of_or_within acetylcholine receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within astrocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within basement membrane organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within behavioral fear response IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within blood vessel development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within bone development IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within brain development IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within brain development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cardiac muscle cell development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cardiac muscle tissue development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cellular component organization ISO
Inferred from Sequence Orthology
more info
PubMed 
acts_upstream_of_or_within chemical synaptic transmission IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within chemical synaptic transmission IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within connective tissue development IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within connective tissue development IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within connective tissue development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within dentate gyrus development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within determination of adult lifespan IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within determination of adult lifespan IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within gene expression IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within gene expression IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within glycoprotein biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within glycoprotein biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in glycoprotein biosynthetic process NAS
Non-traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within glycoprotein metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within heart development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within intracellular protein transport IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within intracellular protein transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within limb development IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within localization of cell IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within long-term synaptic potentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within macrophage differentiation IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within macrophage differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within memory IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within metabolic process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within multicellular organism growth IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within multicellular organism growth IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within multicellular organism growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within multicellular organismal reproductive process IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in muscle cell cellular homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within muscle organ development IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within myelination IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within myotube differentiation IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within nerve development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within neuromuscular junction development IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within neuromuscular junction development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within neuromuscular process IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within neuromuscular process controlling posture IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within neuromuscular synaptic transmission IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within neuromuscular synaptic transmission IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within neuron migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within plasma membrane organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within post-embryonic hindlimb morphogenesis IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within post-translational protein modification IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within potassium ion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within principal sensory nucleus of trigeminal nerve development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within protein O-linked glycosylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
 
acts_upstream_of_or_within protein deglycosylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within protein glycosylation IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within protein glycosylation IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within protein glycosylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein glycosylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein glycosylation ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within protein localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within protein localization to membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within protein localization to plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within protein modification process IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within protein modification process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within protein targeting to membrane IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within protein targeting to membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within protein-containing complex assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within reactive gliosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within regulation of kinase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of protein binding IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within regulation of protein binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of synaptic plasticity IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within response to light stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within response to mechanical stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within retina development in camera-type eye IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within retina layer formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within retina vasculature development in camera-type eye IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within skeletal muscle fiber development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within skeletal muscle fiber differentiation IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within skeletal muscle fiber differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in skeletal muscle organ development IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within skeletal muscle tissue regeneration IDA
Inferred from Direct Assay
more info
PubMed 
involved_in skeletal muscle tissue regeneration IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within skeletal muscle tissue regeneration IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within striated muscle cell development IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within striated muscle cell development IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within striated muscle cell development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within striated muscle contraction IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within striated muscle contraction IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within striated muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within synapse organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within synaptic assembly at neuromuscular junction IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within walking behavior IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within water transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
 
is_active_in Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in Golgi apparatus IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in Golgi apparatus ISO
Inferred from Sequence Orthology
more info
 
located_in Golgi membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in neuromuscular junction IMP
Inferred from Mutant Phenotype
more info
PubMed 
is_active_in plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
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)

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_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