Large1 - LARGE xylosyl- and glucuronyltransferase 1 Gene

Mus musculus

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

Gene ID: 16795 | Gene type: protein coding

About Large1

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	Reference	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	Reference	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	Reference	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

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

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