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Rapsn
Gene Detail
 Symbol
Name
ID
Rapsn
receptor-associated protein of the synapse
MGI:99422
Synonyms 43kDa acetylcholine receptor-associated protein, Nraps, Raps, rapsyn
Feature Type protein coding gene
Genetic Map
Chromosome 2
50.44 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr2:91035620-91045729 bp, + strand
From VEGA annotation of GRCm38

  10110 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:3708  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: RAPsyn
Gene Tree: Rapsn

Human
homologs
Human Homolog RAPSN, receptor-associated protein of the synapse
NCBI Gene ID 5913
neXtProt AC  NX_Q13702
Human Synonyms  RAPSYN, RNF205
Human Chr (Location)  11p11.2; chr11:47437757-47449178 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human RAPSN
Alleles
and
phenotypes
All alleles(10) : Gene trapped(7) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for a targeted null mutation exhibit absence of acetylcholine receptor clusters at end plate band of neuromuscular synapses, muscle weakness, and respiratory distress leading to lethality within hours of birth.
 
Gene Ontology
(GO)
classifications
All GO classifications: (26 annotations)
Process positive regulation of neuromuscular synaptic transmission, positive regulation of neuron apoptotic process, ...
Component cell junction, cytoplasm, ...
Function acetylcholine receptor binding, ionotropic glutamate receptor binding, ...
External Resources: FuncBase
Expression
Literature Summary: (19 records)
Data Summary: Results (98)    Tissues (36)    Images (32)
Theiler Stages: 19, 23, 26, 28
Assay TypeResults
Immunohistochemistry 3
RNA in situ 95
cDNA source data(17)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress
Molecular
reagents
All nucleic(25) Genomic(6) cDNA(19)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000014338 (Evidence)
Ensembl Gene ModelENSMUSG00000002104 (Evidence)
Entrez Gene19400 (Evidence)
UniGene1272
DFCITC1584839, TC1721393
DoTSDT.101172427, DT.486885, DT.91335621
NIA Mouse Gene IndexU002115
Consensus CDS ProjectCCDS16422.1
International Mouse Knockout Project StatusRapsn
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000014338 VEGA Gene Model | MGI Sequence Detail 10110 C57BL/6J ±  kb
transcript OTTMUST00000033854 VEGA | MGI Sequence Detail 1606 Not Applicable 
polypeptide OTTMUSP00000015159 VEGA | MGI Sequence Detail 412 Not Applicable 

For the selected sequences
All sequences(39) RefSeq(4) UniProt(3)
Polymorphisms RFLP(2) : SNPs within 2kb(52 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR018293 43kDa postsynaptic, conserved site
InterPro IPR001237 43kDa postsynaptic protein
InterPro IPR019568 Rapsyn, myristoylation/linker region, N-terminal
InterPro IPR011990 Tetratricopeptide-like helical
InterPro IPR019734 Tetratricopeptide repeat
InterPro IPR013026 Tetratricopeptide repeat-containing domain
InterPro IPR001440 Tetratricopeptide TPR-1
InterPro IPR013083 Zinc finger, RING/FYVE/PHD-type
InterPro IPR001841 Zinc finger, RING-type
Protein Ontology PR:000013734 43 kDa receptor-associated protein of the synapse
References (Earliest) J:18821 Frail DE, et al., Identification of the mouse muscle 43,000-dalton acetylcholine receptor-associated protein (RAPsyn) by cDNA cloning. J Biol Chem. 1988 Oct 25;263(30):15602-7
(Latest) J:197287 Choi KR, et al., Rapsyn mediates subsynaptic anchoring of PKA type I and stabilisation of acetylcholine receptor in vivo. J Cell Sci. 2012 Feb 1;125(Pt 3):714-23
All references(74)
Other
accession IDs
MGD-MRK-12931, MGD-MRK-13765, MGD-MRK-16185

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory