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Rapsn receptor-associated protein of the synapse [ Rattus norvegicus (Norway rat) ]

Gene ID: 362161, updated on 2-Nov-2024

Summary

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Official Symbol
Rapsnprovided by RGD
Official Full Name
receptor-associated protein of the synapseprovided by RGD
Primary source
RGD:1311592
See related
EnsemblRapid:ENSRNOG00000011208 AllianceGenome:RGD:1311592
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Rattus norvegicus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as
rapsyn
Summary
Enables ionotropic glutamate receptor binding activity. Involved in establishment of protein localization to postsynaptic membrane; positive regulation of neuromuscular synaptic transmission; and regulation of postsynaptic membrane organization. Located in neuromuscular junction. 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, Nov 2024]
Expression
Biased expression in Muscle (RPKM 71.8), Heart (RPKM 36.9) and 5 other tissues See more
Orthologs
human mouse all
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Genomic context

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See Rapsn in Genome Data Viewer
Location:
3q24
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCr8 (GCF_036323735.1) 3 NC_086021.1 (97470891..97480196)
RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 3 NC_051338.1 (77015073..77024378)
106 previous assembly Rnor_6.0 (GCF_000001895.5) 3 NC_005102.4 (79859815..79869486)

Chromosome 3 - NC_086021.1Genomic Context describing neighboring genes Neighboring gene eukaryotic translation elongation factor 1 gamma, pseudogene 17 Neighboring gene CUGBP, Elav-like family member 1 Neighboring gene proteasome 26S subunit, ATPase 3 Neighboring gene solute carrier family 39 member 13

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
  • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
  • BioProject: PRJNA238328
  • Publication: PMID 24510058
  • Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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Related articles in PubMed

  1. Silencing rapsyn in vivo decreases acetylcholine receptors and augments sodium channels and secondary postsynaptic membrane folding. Martínez-Martínez P, et al. Neurobiol Dis, 2009 Jul. PMID 19344765
  2. AChRs Are Essential for the Targeting of Rapsyn to the Postsynaptic Membrane of NMJs in Living Mice. Chen PJ, et al. J Neurosci, 2016 May 25. PMID 27225759, Free PMC Article
  3. Glutamatergic reinnervation and assembly of glutamatergic synapses in adult rat skeletal muscle occurs at cholinergic endplates. Francolini M, et al. J Neuropathol Exp Neurol, 2009 Oct. PMID 19918122
  4. Agrin regulates rapsyn interaction with surface acetylcholine receptors, and this underlies cytoskeletal anchoring and clustering. Moransard M, et al. J Biol Chem, 2003 Feb 28. PMID 12486121
  5. ColQ controls postsynaptic differentiation at the neuromuscular junction. Sigoillot SM, et al. J Neurosci, 2010 Jan 6. PMID 20053883, Free PMC Article

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. rapsyn binds to AChR at the cell surface, and its recruitment is induced by agrin.
    Title: Agrin regulates rapsyn interaction with surface acetylcholine receptors, and this underlies cytoskeletal anchoring and clustering.
  2. rapsyn binds to acetylcholine receptor at the cell surface, and its recruitment is induced by agrin
    Title: Agrin regulates rapsyn interaction with surface acetylcholine receptors, and this underlies cytoskeletal anchoring and clustering.
Submit: New GeneRIF Correction

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by RGD

Function Evidence Code Pubs
enables acetylcholine receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables acetylcholine receptor binding ISO
Inferred from Sequence Orthology
more info
  
enables ionotropic glutamate receptor binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein-macromolecule adaptor activity ISO
Inferred from Sequence Orthology
more info
  
enables protein-membrane adaptor activity IEA
Inferred from Electronic Annotation
more info
  
enables structural constituent of postsynaptic specialization ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in establishment of protein localization to postsynaptic membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in maintenance of postsynaptic specialization structure IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of motor neuron apoptotic process ISO
Inferred from Sequence Orthology
more info
  
involved_in neuromuscular junction development ISO
Inferred from Sequence Orthology
more info
  
involved_in neurotransmitter receptor localization to postsynaptic specialization membrane ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within positive regulation of motor neuron apoptotic process ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of neuromuscular synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of neuromuscular synaptic transmission IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of postsynaptic membrane organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in skeletal muscle acetylcholine-gated channel clustering ISO
Inferred from Sequence Orthology
more info
  
involved_in synaptic transmission, cholinergic IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within synaptic transmission, cholinergic ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus ISO
Inferred from Sequence Orthology
more info
  
located_in centrosome IEA
Inferred from Electronic Annotation
more info
  
located_in centrosome ISO
Inferred from Sequence Orthology
more info
  
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in membrane ISO
Inferred from Sequence Orthology
more info
  
is_active_in neuromuscular junction IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in neuromuscular junction IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in neuromuscular junction ISO
Inferred from Sequence Orthology
more info
  
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
  
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
  
is_active_in postsynaptic membrane ISO
Inferred from Sequence Orthology
more info
  
is_active_in postsynaptic specialization membrane ISO
Inferred from Sequence Orthology
more info
  
located_in synapse ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
43 kDa receptor-associated protein of the synapse
Names
nicotinic acetylcholine receptor-associated 46K 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)

  1. NM_001108584.2 → NP_001102054.1  43 kDa receptor-associated protein of the synapse isoform 2

    See identical proteins and their annotated locations for NP_001102054.1

    Status: VALIDATED

    Source sequence(s)
    JAXUCZ010000003
    UniProtKB/TrEMBL
    A0A8I6AIQ1, A6HN99, D3ZPG2
    Related
    ENSRNOP00000060958.1, ENSRNOT00000068444.3
    Conserved Domains (5) summary
    COG0457
    Location:4 → 185
    TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
    sd00006
    Location:127 → 151
    TPR; TPR repeat [structural motif]
    pfam13424
    Location:189 → 265
    TPR_12; Tetratricopeptide repeat
    pfam13639
    Location:310 → 350
    zf-RING_2; Ring finger domain
    cl24038
    Location:1 → 80
    SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family

  2. NM_001399728.1 → NP_001386657.1  43 kDa receptor-associated protein of the synapse isoform 1

    Status: VALIDATED

    Source sequence(s)
    JAXUCZ010000003
    UniProtKB/TrEMBL
    A0A0G2K9X2, A6HN98
    Related
    ENSRNOP00000075166.1, ENSRNOT00000081160.3

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

  1. NC_086021.1 Reference GRCr8

    Range
    97470891..97480196
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_039105428.2 → XP_038961356.1  43 kDa receptor-associated protein of the synapse isoform X1

    Conserved Domains (3) summary
    sd00006
    Location:4 → 32
    TPR; TPR repeat [structural motif]
    cd16478
    Location:201 → 245
    RING-H2_Rapsyn; RING finger, H2 subclass, found in 43 kDa receptor-associated protein of the synapse (Rapsyn) and similar proteins
    pfam17874
    Location:47 → 159
    TPR_MalT; MalT-like TPR region
Nucleotide Protein Strain
Heading Accession and Version

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