Rapsn Gene Summary [Mouse]

Enables acetylcholine receptor binding activity and protein-macromolecule adaptor activity. A structural constituent of postsynaptic specialization. Involved in neurotransmitter receptor localization to postsynaptic specialization membrane and skeletal muscle acetylcholine-gated channel clustering. Acts upstream of or within positive regulation of motor neuron apoptotic process. Located in Golgi apparatus; plasma membrane; and synapse. Is active in neuromuscular junction and postsynaptic specialization membrane. Is expressed in several structures, including central nervous system; embryo mesenchyme; forelimb bud; limb; and skeletal musculature. Used to study congenital myasthenic syndrome 11. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 11 and fetal akinesia deformation sequence syndrome 2. Orthologous to human RAPSN (receptor associated protein of the synapse). [provided by Alliance of Genome Resources, Jul 2025]

Details

Type
Protein Coding
Official Symbol
Rapsn
Official Name
receptor-associated protein of the synapse [Source:MGI Symbol;Acc:MGI:99422]
Ensembl ID
ENSMUSG00000002104
Bio databases IDs NCBI: 19400 Ensembl: ENSMUSG00000002104
Aliases receptor-associated protein of the synapse
Synonyms CMS11, CMS4C, FADS, FADS2, Nraps, Postsynaptic 43 kDa, Raps, RAPSYN, receptor-associated protein of the synapse, RNF205
Species
Mouse, Mus musculus
OrthologiesHumanRat

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 Rapsn often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family
  • protein binding activity, bridging
  • coiled-coil domain
  • Ring finger domain
  • protein binding
  • receptor binding
  • ionotropic glutamate receptor binding
  • myristoylation sequence
  • RING finger (Really Interesting New Gene) domain and U-box domain superfamily
  • Rapsyn N-terminal myristoylation and linker region
  • zinc finger domain
  • structural molecule
  • tetratricopeptide repeat

Pathways

Biological processes and signaling networks where the Rapsn 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.
binds
disease
  • epithelial cancer
  • open-angle glaucoma
  • congenital myasthenic syndrome associated with acetylcholine receptor deficiency type 11
  • major depression
  • prostatic carcinoma
  • prostate cancer
  • fetal akinesia deformation sequence 2
  • hereditary disorder
  • muscle weakness
  • congenital myasthenic syndrome
regulated by
regulates
role in cell
  • activation in
  • synaptic transmission
  • morphology
  • apoptosis
  • quantity
  • survival
  • formation
  • development
  • fragmentation
  • abnormal morphology

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • Cytoplasm
  • cell surface
  • cellular membrane
  • focal adhesions
  • vesicles
  • centrosome
  • Golgi Apparatus
  • cytosol
  • postsynaptic membrane
  • synaptic membrane
  • neuromuscular junctions
  • synapse
  • perikaryon
  • detergent-soluble fraction

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Rapsn gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • synaptic transmission, cholinergic
  • skeletal muscle acetylcholine-gated channel clustering
  • motor neuron apoptotic process
  • positive regulation of neuromuscular synaptic transmission
  • synaptic transmission
  • positive regulation of motor neuron apoptotic process

Cellular Component

Where in the cell the gene product is active
  • centrosome
  • cytosol
  • neuromuscular junction
  • Golgi apparatus
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • ionotropic glutamate receptor binding
  • metal ion binding
  • protein anchor
  • acetylcholine receptor binding

Gene-Specific Assays for Results You Can Trust

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