Large1 Gene Summary [Mouse]
Enables glucuronosyltransferase activity and xylosyltransferase activity. Involved in several processes, including muscle cell cellular homeostasis; protein O-linked mannosylation; and skeletal muscle tissue regeneration. Acts upstream of or within several processes, including nervous system development; protein modification process; and striated muscle cell differentiation. Located in Golgi membrane. Part of protein-containing complex. Is active in Golgi apparatus; neuromuscular junction; and plasma membrane. Is expressed in central nervous system; dorsal root ganglion; and retina. Used to study facioscapulohumeral muscular dystrophy; muscular dystrophy-dystroglycanopathy type B1; 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 2025]
Details
| Type | Protein Coding |
| Official Symbol | Large1 |
| Official Name | LARGE xylosyl- and glucuronyltransferase 1 [Source:MGI Symbol;Acc:MGI:1342270] |
| Ensembl ID | ENSMUSG00000004383 |
| Bio databases IDs | |
| Aliases | LARGE xylosyl- and glucuronyltransferase 1 |
| Synonyms | Acetylglucosaminyl Transferase, BPFD#36, ENR, fg, froggy, Gyltl1a, LARGE, LARGE xylosyl- and glucuronyltransferase 1, like-glycosyltransferase, LOC105373005, Mbp-1, MDC1D, MDDGA6, MDDGB6, myd |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Large1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Glycosyl-transferase for dystroglycan
- hexosyltransferase
- acetylglucosaminyltransferase
- enzyme
- protein binding
- xylosyltransferase
- UDP-glycosyltransferase
- manganese ion binding
- glycosyltransferase
- Glycosyl transferase family 8
- glycosyltransferase family A
- glucuronosyltransferase
Pathways
Biological processes and signaling networks where the Large1 gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- schizophrenia
- congenital muscular dystrophy 1D
- neuroticism
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A6
- type 2 lissencephaly
- major depression
- isolated dystonia
- alcoholism
- metabolic syndrome X
- depressive disorder
role in cell
- migration
- differentiation
- plasticity
- myelination
- organization
- development
- glycosylation in
- modification in
- homeostasis
- synaptic transmission
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Golgi-enriched fraction
- intracellular membrane-bounded organelle
- Plasma Membrane
- Golgi Apparatus
- Golgi membrane
- neuromuscular junctions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Large1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- retina vasculature development in camera-type eye
- cytoskeleton organization
- determination of adult lifespan
- protein glycosylation
- N-acetylglucosamine metabolic process
- glycosphingolipid biosynthetic process
- intracellular protein transport
- memory
- nerve development
- sensory perception of sound
- water transport
- plasma membrane organization
- synaptic growth at neuromuscular junction
- striated muscle cell development
- long-term synaptic potentiation
- macrophage differentiation
- potassium ion transmembrane transport
- macromolecular complex assembly
- protein O-linked glycosylation
- protein targeting to membrane
- principal sensory nucleus of trigeminal nerve development
- dentate gyrus development
- connective tissue development
- neuromuscular process controlling posture
- cardiac muscle cell development
- gene expression
- protein O-linked mannosylation
- protein localization in plasma membrane
- multicellular organism growth
- muscle cell homeostasis
- neuromuscular synaptic transmission
- myelination
- striated muscle contraction
- response to light stimulus
- post-translational protein modification
- skeletal muscle tissue regeneration
- bone development
- response to mechanical stimulus
- neuron migration
- blood vessel development
- skeletal muscle fiber development
- basement membrane organization
- astrocyte differentiation
- glycoprotein biosynthetic process
- skeletal muscle organ development
- behavioral fear response
- localization of cell
- post-embryonic hindlimb morphogenesis
- retina layer formation
Cellular Component
Where in the cell the gene product is active
- neuromuscular junction
- macromolecular complex
- Golgi apparatus
- Golgi membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- transferase activity, transferring glycosyl groups
- transferase activity, transferring hexosyl groups
- acetylglucosaminyltransferase activity
- UDP-xylosyltransferase activity
- glucuronosyltransferase activity
- xylosyltransferase activity
- manganese ion binding