Rapsn - receptor-associated protein of the synapse Gene

Mus musculus

Also known as Raps; 43kDa; Nraps; rapsyn

Gene ID: 19400 | Gene type: protein coding

About Rapsn

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	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	Reference	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	Reference	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

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

43 kDa receptor-associated protein of the synapse

43 kDa postsynaptic protein	43kDa acetylcholine receptor-associated protein
acetylcholine receptor-associated 43 kDa protein	receptor-associated protein of the synapse, 43 kDa

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11668	RAPSN Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Rapsn	NCBI	NCBI:5913

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