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

    Gene ID: 362161, updated on 9-Dec-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, Dec 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
    • 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, A0A8I6AIQ1, 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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