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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 western clawed frog; 1 zebrafish

HCOP human homology predictions: RAPSN
Protein SuperFamily: RAPsyn
Gene Tree: Rapsn

Human
homologs
RAPSN, receptor-associated protein of the synapse
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 5913
neXtProt AC: NX_Q13702

Human Synonyms: CMS11, CMS4C, FADS, RAPSYN, RNF205

Human Chr (Location): 11p11.2; chr11:47437757-47449178 (-)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human RAPSN

Mutations,
alleles, and
phenotypes
All mutations/alleles(13) : Gene trapped(7) Targeted(6)
Genomic Mutations involving Rapsn (2)
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.
 
Interactions
Rapsn interacts with 44 markers (Mir28b, Mir28c, Mir142, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (19 records)
Data Summary: Results (100)    Tissues (37)    Images (34)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 5
RNA in situ 95
cDNA source data(17)
Other mouse links: Allen Institute   GENSAT   GEO   Expression Atlas
Other vertebrate links: Xenbase rapsn ; ZFIN rapsn    NEW 
Molecular
reagents
All nucleic(25) Genomic(6) cDNA(19)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000014338 (Evidence)
Ensembl Gene Model ENSMUSG00000002104 (Evidence)
Entrez Gene 19400 (Evidence)
UniGene 1272
DFCI TC1584839, TC1721393
DoTS DT.101172427, DT.486885, DT.91335621
NIA Mouse Gene Index U002115
Consensus CDS Project CCDS16422.1
International Mouse Phenotyping Consortium Status Rapsn
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(77)
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
08/18/2015
MGI 6.0
The Jackson Laboratory