Rapsn - receptor-associated protein of the synapse Gene
Also Known as Raps; 43kDa; Nraps; rapsyn
Species: Mus musculus
Summary
Enables acetylcholine receptor binding activity. Acts upstream of or within positive regulation of neuron apoptotic process. Located in Golgi apparatus; neuromuscular junction; and plasma membrane. Is active in 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, Apr 2022]
Rapsn Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_009023.3 | NP_033049.2 | 43 kDa receptor-associated protein of the synapse |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables acetylcholine receptor binding |
IPI
IPI: Inferred from physical interaction
|
18420419 | MGI |
| enables protein-macromolecule adaptor activity |
IDA
IDA: Inferred from direct assay
|
18420419 | MGI |
| enables structural constituent of postsynaptic specialization |
IDA
IDA: Inferred from direct assay
|
27839998 | MGI |
| enables structural constituent of postsynaptic specialization |
IMP
IMP: Inferred from mutant phenotype
|
27839998 | MGI |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of motor neuron apoptotic process |
IMP
IMP: Inferred from mutant phenotype
|
11312299 | MGI |
| involved in neuromuscular junction development |
IMP
IMP: Inferred from mutant phenotype
|
8653787 | MGI |
| involved in neurotransmitter receptor localization to postsynaptic specialization membrane |
IDA
IDA: Inferred from direct assay
|
27839998 | MGI |
| involved in neurotransmitter receptor localization to postsynaptic specialization membrane |
IMP
IMP: Inferred from mutant phenotype
|
8653787 | MGI |
| acts upstream of or within positive regulation of motor neuron apoptotic process |
IMP
IMP: Inferred from mutant phenotype
|
11312299 | MGI |
| involved in skeletal muscle acetylcholine-gated channel clustering |
IDA
IDA: Inferred from direct assay
|
18420419 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in Golgi apparatus |
IDA
IDA: Inferred from direct assay
|
12388596 | MGI |
| located in membrane |
IDA
IDA: Inferred from direct assay
|
20053883 | MGI |
| is active in neuromuscular junction |
IDA
IDA: Inferred from direct assay
|
9136771 | MGI |
| located in neuromuscular junction |
IDA
IDA: Inferred from direct assay
|
8416841 | MGI |
| is active in neuromuscular junction |
IMP
IMP: Inferred from mutant phenotype
|
27225759 | MGI |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
12388596 | MGI |
| is active in postsynaptic membrane |
IDA
IDA: Inferred from direct assay
|
14622576 | MGI |
| is active in postsynaptic specialization membrane |
IDA
IDA: Inferred from direct assay
|
9136771 | MGI |
| is active in postsynaptic specialization membrane |
IMP
IMP: Inferred from mutant phenotype
|
27225759 | MGI |
| located in synapse |
IDA
IDA: Inferred from direct assay
|
20053883 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
43 kDa receptor-associated protein of the synapse |
|
|