Large1 - LARGE xylosyl- and glucuronyltransferase 1 Gene

Also Known as fg; enr; myd; Mbp1; Large; Mbp-1; froggy; BPFD#36; Gyltl1a

Species: Mus musculus

Gene Type: protein coding
Gene ID: 16795

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]

Large1 Products (4)

mRNA Protein Name
NM_001317391.2 NP_001304320.1 xylosyl- and glucuronyltransferase LARGE1 isoform 1
NM_001414048.1 NP_001400977.1 xylosyl- and glucuronyltransferase LARGE1 isoform 2
NM_001414049.1 NP_001400978.1 xylosyl- and glucuronyltransferase LARGE1 isoform 3
NM_010687.3 NP_034817.1 xylosyl- and glucuronyltransferase LARGE1 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables glucuronosyltransferase activity IDA
IDA: Inferred from direct assay
23125099 MGI
enables glycosyltransferase activity IMP
IMP: Inferred from mutant phenotype
25138275 MGI
enables hexosyltransferase activity IDA
IDA: Inferred from direct assay
32975514 MGI
enables protein binding IPI
IPI: Inferred from physical interaction
15210115 MGI
enables xylosyltransferase activity IDA
IDA: Inferred from direct assay
23125099 MGI
Biological Process GO Annotation Evidence References Source
acts upstream of or within acetylcholine receptor signaling pathway IMP
IMP: Inferred from mutant phenotype
19346129 MGI
acts upstream of or within astrocyte differentiation IMP
IMP: Inferred from mutant phenotype
16111892 MGI
acts upstream of or within basement membrane organization IMP
IMP: Inferred from mutant phenotype
12140558 MGI
acts upstream of or within behavioral fear response IMP
IMP: Inferred from mutant phenotype
29915039 MGI
acts upstream of or within blood vessel development IMP
IMP: Inferred from mutant phenotype
16111892 MGI
acts upstream of or within bone development IGI
IGI: Inferred from genetic interaction
23798567 MGI
acts upstream of or within brain development IDA
IDA: Inferred from direct assay
29360985 MGI
acts upstream of or within brain development IMP
IMP: Inferred from mutant phenotype
26306834 MGI
acts upstream of or within cardiac muscle cell development IMP
IMP: Inferred from mutant phenotype
16111892 MGI
acts upstream of or within cardiac muscle tissue development IMP
IMP: Inferred from mutant phenotype
21628317 MGI
acts upstream of or within chemical synaptic transmission IDA
IDA: Inferred from direct assay
23222475 MGI
acts upstream of or within chemical synaptic transmission IMP
IMP: Inferred from mutant phenotype
16111892 MGI
acts upstream of or within connective tissue development IDA
IDA: Inferred from direct assay
25661440 MGI
acts upstream of or within connective tissue development IGI
IGI: Inferred from genetic interaction
23798567 MGI
acts upstream of or within connective tissue development IMP
IMP: Inferred from mutant phenotype
25661440 MGI
acts upstream of or within cytoskeleton organization IMP
IMP: Inferred from mutant phenotype
15389724 MGI
acts upstream of or within dentate gyrus development IMP
IMP: Inferred from mutant phenotype
21970971 MGI
acts upstream of or within determination of adult lifespan IDA
IDA: Inferred from direct assay
24722207 MGI
acts upstream of or within determination of adult lifespan IGI
IGI: Inferred from genetic interaction
23798567 MGI
acts upstream of or within gene expression IDA
IDA: Inferred from direct assay
24722207 MGI
acts upstream of or within gene expression IGI
IGI: Inferred from genetic interaction
23798567 MGI
acts upstream of or within gene expression IMP
IMP: Inferred from mutant phenotype
15389724 MGI
acts upstream of or within glycoprotein biosynthetic process IDA
IDA: Inferred from direct assay
15184894 MGI
acts upstream of or within glycoprotein biosynthetic process IMP
IMP: Inferred from mutant phenotype
15184894 MGI
acts upstream of or within glycoprotein metabolic process IMP
IMP: Inferred from mutant phenotype
12140558 MGI
acts upstream of or within heart development IMP
IMP: Inferred from mutant phenotype
21628317 MGI
acts upstream of or within intracellular protein transport IDA
IDA: Inferred from direct assay
29915039 MGI
acts upstream of or within intracellular protein transport IMP
IMP: Inferred from mutant phenotype
29915039 MGI
acts upstream of or within limb development IGI
IGI: Inferred from genetic interaction
23798567 MGI
acts upstream of or within localization of cell IMP
IMP: Inferred from mutant phenotype
26306834 MGI
acts upstream of or within long-term synaptic potentiation IMP
IMP: Inferred from mutant phenotype
29915039 MGI
acts upstream of or within macrophage differentiation IDA
IDA: Inferred from direct assay
25661440 MGI
acts upstream of or within macrophage differentiation IMP
IMP: Inferred from mutant phenotype
25661440 MGI
acts upstream of or within memory IMP
IMP: Inferred from mutant phenotype
29915039 MGI
acts upstream of or within multicellular organism growth IDA
IDA: Inferred from direct assay
24722207 MGI
acts upstream of or within multicellular organism growth IGI
IGI: Inferred from genetic interaction
23798567 MGI
acts upstream of or within multicellular organism growth IMP
IMP: Inferred from mutant phenotype
25661440 MGI
acts upstream of or within multicellular organismal reproductive process IGI
IGI: Inferred from genetic interaction
23798567 MGI
involved in muscle cell cellular homeostasis IMP
IMP: Inferred from mutant phenotype
11381262 MGI
acts upstream of or within muscle organ development IDA
IDA: Inferred from direct assay
24722207 MGI
acts upstream of or within myelination IMP
IMP: Inferred from mutant phenotype
32453729 MGI
acts upstream of or within myotube differentiation IDA
IDA: Inferred from direct assay
24722207 MGI
acts upstream of or within nerve development IMP
IMP: Inferred from mutant phenotype
19346129 MGI
acts upstream of or within neuromuscular junction development IDA
IDA: Inferred from direct assay
23222475 MGI
acts upstream of or within neuromuscular junction development IMP
IMP: Inferred from mutant phenotype
19346129 MGI
acts upstream of or within neuromuscular process IGI
IGI: Inferred from genetic interaction
24635668 MGI
acts upstream of or within neuromuscular process controlling posture IDA
IDA: Inferred from direct assay
24722207 MGI
acts upstream of or within neuromuscular synaptic transmission IDA
IDA: Inferred from direct assay
23222475 MGI
acts upstream of or within neuromuscular synaptic transmission IMP
IMP: Inferred from mutant phenotype
23222475 MGI
acts upstream of or within neuron migration IMP
IMP: Inferred from mutant phenotype
12140558 MGI
acts upstream of or within plasma membrane organization IMP
IMP: Inferred from mutant phenotype
15389724 MGI
acts upstream of or within post-embryonic hindlimb morphogenesis IDA
IDA: Inferred from direct assay
24722207 MGI
acts upstream of or within post-translational protein modification IMP
IMP: Inferred from mutant phenotype
12140558 MGI
acts upstream of or within potassium ion transmembrane transport IMP
IMP: Inferred from mutant phenotype
17803675 MGI
acts upstream of or within principal sensory nucleus of trigeminal nerve development IMP
IMP: Inferred from mutant phenotype
16819976 MGI
acts upstream of or within protein O-linked glycosylation IMP
IMP: Inferred from mutant phenotype
19346129 MGI
involved in protein O-linked mannosylation IDA
IDA: Inferred from direct assay
23125099 MGI
acts upstream of or within protein deglycosylation IMP
IMP: Inferred from mutant phenotype
29360985 MGI
acts upstream of or within protein glycosylation IDA
IDA: Inferred from direct assay
15788414 MGI
acts upstream of or within protein glycosylation IGI
IGI: Inferred from genetic interaction
24635668 MGI
acts upstream of or within protein glycosylation IMP
IMP: Inferred from mutant phenotype
16111892 MGI
involved in protein glycosylation IMP
IMP: Inferred from mutant phenotype
32975514 MGI
acts upstream of or within protein localization IMP
IMP: Inferred from mutant phenotype
17803675 MGI
acts upstream of or within protein localization to membrane IMP
IMP: Inferred from mutant phenotype
17803675 MGI
acts upstream of or within protein localization to plasma membrane IMP
IMP: Inferred from mutant phenotype
29915039 MGI
acts upstream of or within protein modification process IDA
IDA: Inferred from direct assay
15788414 MGI
acts upstream of or within protein modification process IMP
IMP: Inferred from mutant phenotype
20044576 MGI
acts upstream of or within protein phosphorylation IMP
IMP: Inferred from mutant phenotype
20044576 MGI
acts upstream of or within protein targeting to membrane IDA
IDA: Inferred from direct assay
29915039 MGI
acts upstream of or within protein targeting to membrane IMP
IMP: Inferred from mutant phenotype
29915039 MGI
acts upstream of or within protein-containing complex assembly IMP
IMP: Inferred from mutant phenotype
15389724 MGI
acts upstream of or within reactive gliosis IMP
IMP: Inferred from mutant phenotype
21970971 MGI
acts upstream of or within regulation of kinase activity IDA
IDA: Inferred from direct assay
23222475 MGI
acts upstream of or within regulation of kinase activity IMP
IMP: Inferred from mutant phenotype
23222475 MGI
acts upstream of or within regulation of protein binding IDA
IDA: Inferred from direct assay
19017726 MGI
acts upstream of or within regulation of protein binding IMP
IMP: Inferred from mutant phenotype
12140558 MGI
acts upstream of or within regulation of synaptic plasticity IMP
IMP: Inferred from mutant phenotype
24753587 MGI
acts upstream of or within response to light stimulus IMP
IMP: Inferred from mutant phenotype
22865473 MGI
acts upstream of or within response to mechanical stimulus IMP
IMP: Inferred from mutant phenotype
21628317 MGI
acts upstream of or within retina development in camera-type eye IMP
IMP: Inferred from mutant phenotype
16111892 MGI
acts upstream of or within retina layer formation IMP
IMP: Inferred from mutant phenotype
16111892 MGI
acts upstream of or within retina vasculature development in camera-type eye IMP
IMP: Inferred from mutant phenotype
16111892 MGI
acts upstream of or within sensory perception of sound IMP
IMP: Inferred from mutant phenotype
32453729 MGI
acts upstream of or within skeletal muscle fiber development IMP
IMP: Inferred from mutant phenotype
16111892 MGI
acts upstream of or within skeletal muscle fiber differentiation IDA
IDA: Inferred from direct assay
25661440 MGI
acts upstream of or within skeletal muscle fiber differentiation IMP
IMP: Inferred from mutant phenotype
25661440 MGI
involved in skeletal muscle organ development IDA
IDA: Inferred from direct assay
24132234 MGI
acts upstream of or within skeletal muscle tissue regeneration IDA
IDA: Inferred from direct assay
24722207 MGI
involved in skeletal muscle tissue regeneration IDA
IDA: Inferred from direct assay
24132234 MGI
acts upstream of or within skeletal muscle tissue regeneration IMP
IMP: Inferred from mutant phenotype
25976249 MGI
acts upstream of or within striated muscle cell development IDA
IDA: Inferred from direct assay
23222475 MGI
acts upstream of or within striated muscle cell development IGI
IGI: Inferred from genetic interaction
23798567 MGI
acts upstream of or within striated muscle cell development IMP
IMP: Inferred from mutant phenotype
23222475 MGI
acts upstream of or within striated muscle contraction IDA
IDA: Inferred from direct assay
23222475 MGI
acts upstream of or within striated muscle contraction IGI
IGI: Inferred from genetic interaction
23798567 MGI
acts upstream of or within striated muscle contraction IMP
IMP: Inferred from mutant phenotype
23222475 MGI
acts upstream of or within synapse organization IMP
IMP: Inferred from mutant phenotype
16111892 MGI
acts upstream of or within synaptic assembly at neuromuscular junction IMP
IMP: Inferred from mutant phenotype
19346129 MGI
acts upstream of or within transmembrane transport IMP
IMP: Inferred from mutant phenotype
21628317 MGI
acts upstream of or within walking behavior IGI
IGI: Inferred from genetic interaction
23798567 MGI
acts upstream of or within water transport IMP
IMP: Inferred from mutant phenotype
17803675 MGI
Cellular Component GO Annotation Evidence References Source
is active in Golgi apparatus IDA
IDA: Inferred from direct assay
29915039 MGI
is active in Golgi apparatus IMP
IMP: Inferred from mutant phenotype
29915039 MGI
located in Golgi membrane IDA
IDA: Inferred from direct assay
23723439 MGI
located in intracellular membrane-bounded organelle IDA
IDA: Inferred from direct assay
25138275 MGI
is active in neuromuscular junction IMP
IMP: Inferred from mutant phenotype
19346129 MGI
is active in plasma membrane IMP
IMP: Inferred from mutant phenotype
15389724 MGI
part of protein-containing complex IDA
IDA: Inferred from direct assay
29915039 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

xylosyl- and glucuronyltransferase LARGE1

LARGE xylosyl- and glucuronyltransferase 1

  • acetylglucosaminyltransferase-like 1A

  • glycosyltransferase-like protein LARGE1

  • like-glycosyltransferase

  • myodystrophy

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS07524 LARGE1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Large1 NCBI NCBI:9215