Rapsn receptor-associated protein of the synapse [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Rapsnprovided by MGI
Official Full Name: receptor-associated protein of the synapseprovided by MGI
Primary source: MGI:MGI:99422
See related: Ensembl:ENSMUSG00000002104 AllianceGenome:MGI:99422
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Raps; 43kDa; Nraps; rapsyn
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]
Expression: Biased expression in limb E14.5 (RPKM 7.2), heart adult (RPKM 6.1) and 11 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 E1; 2 50.44 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (90865810..90876074)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (91035472..91045729)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Membraneless condensates by Rapsn phase separation as a platform for neuromuscular junction formation.
Title: Membraneless condensates by Rapsn phase separation as a platform for neuromuscular junction formation.
The RING domain of rapsyn contains E3 ligase activity. Mutation of the RING domain that abolishes the enzyme activity inhibits rapsyn- as well as agrin-induced AChR clustering in heterologous and muscle cells. Further biological and genetic studies support a working model where rapsyn, a classic scaffold protein, serves as an E3 ligase to induce AChR clustering and NMJ formation, possibly by regulation of AChR neddylation
Title: Enzymatic Activity of the Scaffold Protein Rapsyn for Synapse Formation.
Protein kinase CK2 interacts at the neuromuscular synapse with Rapsyn, Rac1, 14-3-3gamma, and Dok-7 proteins and phosphorylates the latter two.
Title: Protein kinase CK2 interacts at the neuromuscular synapse with Rapsyn, Rac1, 14-3-3γ, and Dok-7 proteins and phosphorylates the latter two.
Plectin bridges acetylcholine receptors and intermediate filaments via direct interaction with the AChR-scaffolding protein rapsyn in an isoform-specific manner.
Title: Neuromuscular synapse integrity requires linkage of acetylcholine receptors to postsynaptic intermediate filament networks via rapsyn-plectin 1f complexes.
Molecular modelling, immunoprecipitation and bimolecular fluorescence complementation approaches identify an alpha-helical stretch of rapsyn to be crucial for binding to the dimerisation and docking domain of PKA type I.
Title: Rapsyn mediates subsynaptic anchoring of PKA type I and stabilisation of acetylcholine receptor in vivo.
typical anchoring proteins of central excitatory synapses coimmunoprecipitate and colocalize with rapsyn
Title: Glutamatergic neurons induce expression of functional glutamatergic synapses in primary myotubes.
alpha-Actinin, rapsyn, and surface AChR form a ternary complex.
Title: alpha-Actinin interacts with rapsyn in agrin-stimulated AChR clustering.
nAChR mobility in plasma membranes of myoblast cells during their differentiation to myotubes in the presence and absence of rapsyn
Title: Acetylcholine receptor organization in membrane domains in muscle cells: evidence for rapsyn-independent and rapsyn-dependent mechanisms.
Rapsyn interacts with the acetylcholine receptor via an alpha-helical structural motif. Binding at this site likely mediates the critical rapsyn interaction involved in localizing the acetylcholine receptor at the neuromuscular junction.
Title: Rapsyn interacts with the muscle acetylcholine receptor via alpha-helical domains in the alpha, beta, and epsilon subunit intracellular loops.
At the postnatal neuromuscular synapse agrin signaling elevates the expression and targeting of rapsyn to the postsynaptic membrane, thereby packing more AChRs into stable, functionally-important AChR aggregates.
Title: Neural agrin increases postsynaptic ACh receptor packing by elevating rapsyn protein at the mouse neuromuscular synapse.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3) 1 citation
Endonuclease-mediated (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:489098

J03962 (e-PCR)
- UniSTS:124853

Homology

Homologs of the Rapsn gene: The Rapsn gene is conserved in human, chimpanzee, dog, cow, rat, chicken, zebrafish, fruit fly, C.elegans, and frog.
Orthologs from Annotation Pipeline: 503 organisms have orthologs with human gene Rapsn
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables acetylcholine receptor binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables acetylcholine receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables acetylcholine receptor binding	ISO Inferred from Sequence Orthology more info
enables ionotropic glutamate receptor binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein-membrane adaptor activity	IEA Inferred from Electronic Annotation more info
enables structural constituent of postsynaptic specialization	IDA Inferred from Direct Assay more info	PubMed
enables structural constituent of postsynaptic specialization	IMP Inferred from Mutant Phenotype more info	PubMed
enables structural constituent of postsynaptic specialization	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in establishment of protein localization to postsynaptic membrane	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within maintenance of postsynaptic specialization structure	IPI Inferred from Physical Interaction more info	PubMed
acts_upstream_of motor neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neurotransmitter receptor localization to postsynaptic specialization membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in neurotransmitter receptor localization to postsynaptic specialization membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neurotransmitter receptor localization to postsynaptic specialization membrane	IPI Inferred from Physical Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of motor neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of neuromuscular synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in positive regulation of neuromuscular synaptic transmission	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within postsynapse organization	IPI Inferred from Physical Interaction more info	PubMed
involved_in regulation of postsynaptic membrane organization	ISO Inferred from Sequence Orthology more info
involved_in synaptic transmission, cholinergic	IBA Inferred from Biological aspect of Ancestor more info	PubMed
acts_upstream_of_or_within synaptic transmission, cholinergic	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in centrosome	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in neuromuscular junction	IBA Inferred from Biological aspect of Ancestor more info	PubMed
is_active_in neuromuscular junction	IDA Inferred from Direct Assay more info	PubMed
located_in neuromuscular junction	IDA Inferred from Direct Assay more info	PubMed
is_active_in neuromuscular junction	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in neuromuscular junction	IPI Inferred from Physical Interaction more info	PubMed
located_in neuromuscular junction	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info
is_active_in postsynaptic specialization membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynaptic specialization membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in synapse	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: 43 kDa receptor-associated protein of the synapse

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

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_009023.3 → NP_033049.2 43 kDa receptor-associated protein of the synapse

See identical proteins and their annotated locations for NP_033049.2

Status: VALIDATED

Source sequence(s)

BY709325, J03962

Consensus CDS

CCDS16422.1

UniProtKB/Swiss-Prot

P12672, Q2M2N6

UniProtKB/TrEMBL

A0A6P5PDQ5

Related

ENSMUSP00000054150.6, ENSMUST00000050323.6

Conserved Domains (5) summary

COG0457
Location:9 → 239

TPR; Tetratricopeptide (TPR) repeat [General function prediction only]

sd00006
Location:127 → 151

TPR; TPR repeat [structural motif]

pfam13424
Location:204 → 278

TPR_12; Tetratricopeptide repeat

cd16478
Location:360 → 404

RING-H2_Rapsyn; RING finger, H2 subclass, found in 43 kDa receptor-associated protein of the synapse (Rapsyn) and similar proteins

cl24038
Location:1 → 80

SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

90865810..90876074

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006499017.5 → XP_006499080.1 43 kDa receptor-associated protein of the synapse isoform X1

Related

ENSMUSP00000107072.4, ENSMUST00000111445.10

Conserved Domains (5) summary

COG0457
Location:9 → 239

TPR; Tetratricopeptide (TPR) repeat [General function prediction only]

sd00006
Location:127 → 151

TPR; TPR repeat [structural motif]

pfam10579
Location:1 → 80

Rapsyn_N; Rapsyn N-terminal myristoylation and linker region

pfam13424
Location:204 → 278

TPR_12; Tetratricopeptide repeat

cd16478
Location:342 → 386

RING-H2_Rapsyn; RING finger, H2 subclass, found in 43 kDa receptor-associated protein of the synapse (Rapsyn) and similar proteins
XM_036159733.1 → XP_036015626.1 43 kDa receptor-associated protein of the synapse isoform X2

UniProtKB/TrEMBL

A2AFX6

Related

ENSMUSP00000107073.4, ENSMUST00000111446.10

Conserved Domains (4) summary

COG0457
Location:4 → 185

TPR; Tetratricopeptide (TPR) repeat [General function prediction only]

sd00006
Location:127 → 151

TPR; TPR repeat [structural motif]

cd16478
Location:307 → 351

RING-H2_Rapsyn; RING finger, H2 subclass, found in 43 kDa receptor-associated protein of the synapse (Rapsyn) and similar proteins

cl24038
Location:1 → 80

SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family