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; chr11:47459308-47470730 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human RAPSN

Alleles and phenotypes

All alleles(10) : Targeted(3) Gene trapped(7)
 

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: (22 annotations)

Process	positive regulation of neuron apoptotic process, synaptic transmission, ...
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 Type	Results
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 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 Knockout Project Status	Rapsn

Sequences

Length	Strain/Species
genomic	OTTMUSG00000014338	VEGA Gene Model | MGI Sequence Detail	10110	C57BL/6J
transcript	OTTMUST00000033854	VEGA | MGI Sequence Detail	1606	Not Applicable
polypeptide	OTTMUSP00000015159	VEGA | MGI Sequence Detail	412	Not Applicable

All sequences(37) RefSeq(2) UniProt(3)

Polymorphisms

RFLP(2) : SNPs(40 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:185231 Ettorre M, et al., Glutamatergic neurons induce expression of functional glutamatergic synapses in primary myotubes. PLoS One. 2012;7(2):e31451
All references(73)

Other accession IDs

MGD-MRK-12931, MGD-MRK-13765, MGD-MRK-16185