ZFIN ID: ZDB-GENE-030313-1
Gene Name: receptor-associated protein of the synapse, 43kD
Gene Symbol: rapsn    Nomenclature History

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Previous Names: rapsyn, twitch once, two

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 18 Mapping Details/Browsers
Description: Predicted to have acetylcholine receptor binding activity; metal ion binding activity; and protein membrane adaptor. Involved in chemical synaptic transmission and synapse assembly. Predicted to localize to synapse. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 11 and fetal akinesia deformation sequence syndrome 2. Is expressed in muscle cell; musculature system; myotome; and pectoral fin musculature. Orthologous to human RAPSN (receptor associated protein of the synapse).
Genome Resources: Alliance (1),  Gene:352942 (1),  Ensembl(GRCz11):ENSDARG00000041133 (1)
GENE EXPRESSION
All Expression Data: 10 figures from 3 publications
Directly Submitted Expression Data: 6 figures (9 images) from Thisse et al., 2005 [eu1040]
Wild-type Stages, Structures: Segmentation:14-19 somites (16.0h-19.0h) to Larval:Protruding-mouth (72.0h-96.0h, 3.5mm)
 
High Throughput Expression: GEO (1) , Expression Atlas (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa985 Point Mutation Unknown Splice Site ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa6513 Point Mutation Unknown Premature Stop ENU
    th26 Point Mutation Unknown Missense ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • tm335 Unknown Unknown Unknown ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • tq265 Unknown Unknown Unknown
  • European Zebrafish Resource Center (EZRC) (order this)
  • DISEASE ASSOCIATED WITH rapsn HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    congenital myasthenic syndrome 11 Alliance Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency 616326
    fetal akinesia deformation sequence syndrome 2 Alliance Fetal akinesia deformation sequence 2 618388
    DISEASE ASSOCIATED WITH rapsn VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process chemical synaptic transmission (more)
    Cellular Component synapse (more)
    Molecular Function acetylcholine receptor binding (more)
    GO Terms (all 6)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA rapsn-201 (1)    Ensembl 1377
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES
    Name Type Isotype Host Organism Assay Source Publications
    Ab1-rapsn polyclonal IgG Rabbit IHC Abcam plc
    2
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM rapsn
    Construct Regulatory Regions Coding Sequences Species Tg Lines Publications
    Tg(actc1b:rapsn-CFP) actc1b CFPrapsn Danio rerio 1 3
    MARKER RELATIONSHIPS
    rapsn Contained in: [BAC] CH211-238N5 (1), DKEY-45F10 (1) (order this)
    rapsn Encodes: [EST] eu1040 (1)
    [cDNA] MGC:194408 (1), MGC:194438 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_178305 (1) 1239 nt
    Genomic GenBank:BX470166 (1) 117241 nt
    Select Tool
    Polypeptide UniProtKB:Q8QGW4 (1) 412 aa
    Sequence Information (all 17)
    ORTHOLOGY for rapsn ( Chr: 18 )
    CITATIONS (34)