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Aliases for RAPSN Gene

Aliases for RAPSN Gene

  • Receptor-Associated Protein Of The Synapse 2 3
  • RING Finger Protein 205 3 4
  • RAPSYN 3 4
  • RNF205 3 4
  • 43 KDa Receptor-Associated Protein Of The Synapse 3
  • Receptor-Associated Protein Of The Synapse, 43kD 2
  • Acetylcholine Receptor-Associated 43 Kda Protein 3
  • Acetylcholine Receptor-Associated 43 KDa Protein 4
  • 43 Kda Postsynaptic Protein 3
  • 43 KDa Postsynaptic Protein 4
  • Rapsyn 2
  • CMS1D 6
  • CMS1E 6

External Ids for RAPSN Gene

Previous GeneCards Identifiers for RAPSN Gene

  • GC11M049396
  • GC11M048337
  • GC11M047490
  • GC11M047423
  • GC11M047415
  • GC11M047459
  • GC11M047159

Summaries for RAPSN Gene

Entrez Gene Summary for RAPSN Gene

  • This gene encodes a member of a family of proteins that are receptor associated proteins of the synapse. The encoded protein contains a conserved cAMP-dependent protein kinase phosphorylation site, and plays a critical role in clustering and anchoring nicotinic acetylcholine receptors at synaptic sites by linking the receptors to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin. Mutations in this gene may play a role in postsynaptic congenital myasthenic syndromes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2011]

GeneCards Summary for RAPSN Gene

RAPSN (Receptor-Associated Protein Of The Synapse) is a Protein Coding gene. Diseases associated with RAPSN include fetal akinesia deformation sequence and rapsn-related fetal akinesia deformation sequence. Among its related pathways are Agrin Interactions at Neuromuscular Junction. GO annotations related to this gene include ionotropic glutamate receptor binding and acetylcholine receptor binding.

UniProtKB/Swiss-Prot for RAPSN Gene

  • Postsynaptic protein required for clustering of nicotinic acetylcholine receptors (nAChRs) at the neuromuscular junction. It may link the receptor to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin

Gene Wiki entry for RAPSN Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAPSN Gene

Genomics for RAPSN Gene

Regulatory Elements for RAPSN Gene

Genomic Location for RAPSN Gene

Start:
47,437,757 bp from pter
End:
47,449,178 bp from pter
Size:
11,422 bases
Orientation:
Minus strand

Genomic View for RAPSN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RAPSN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAPSN Gene

Proteins for RAPSN Gene

  • Protein details for RAPSN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13702-RAPSN_HUMAN
    Recommended name:
    43 kDa receptor-associated protein of the synapse
    Protein Accession:
    Q13702
    Secondary Accessions:
    • Q8TDF3
    • Q9BTD9

    Protein attributes for RAPSN Gene

    Size:
    412 amino acids
    Molecular mass:
    46328 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RAPSN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAPSN Gene

Proteomics data for RAPSN Gene at MOPED

Post-translational modifications for RAPSN Gene

  • Ubiquitinated by the BCR(KLHL8) complex, leading to its degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RAPSN Gene

No data available for DME Specific Peptides for RAPSN Gene

Domains for RAPSN Gene

Gene Families for RAPSN Gene

HGNC:
  • RNF :RING-type (C3HC4) zinc fingers

Suggested Antigen Peptide Sequences for RAPSN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13702

UniProtKB/Swiss-Prot:

RAPSN_HUMAN :
  • Q13702
Domain:
  • A cysteine-rich region homologous to part of the regulatory domain of protein kinase C may be important in interactions of this protein with the lipid bilayer
Family:
  • Belongs to the RAPsyn family.
Similarity:
  • Contains 1 RING-type zinc finger.
  • Contains 7 TPR repeats.
genes like me logo Genes that share domains with RAPSN: view

Function for RAPSN Gene

Molecular function for RAPSN Gene

GENATLAS Biochemistry: acetylcholine receptor associated protein,43kDa,rapsyn,involved in the clustering and anchoring the receptor in the membrane
UniProtKB/Swiss-Prot Function: Postsynaptic protein required for clustering of nicotinic acetylcholine receptors (nAChRs) at the neuromuscular junction. It may link the receptor to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin

Gene Ontology (GO) - Molecular Function for RAPSN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
GO:0008270 zinc ion binding IEA --
GO:0033130 acetylcholine receptor binding IDA 18420419
GO:0035255 ionotropic glutamate receptor binding IEA --
GO:0043495 protein anchor IEA --
genes like me logo Genes that share ontologies with RAPSN: view
genes like me logo Genes that share phenotypes with RAPSN: view

Animal Models for RAPSN Gene

MGI Knock Outs for RAPSN:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for RAPSN Gene

Localization for RAPSN Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAPSN Gene

Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell junction, synapse, postsynaptic cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Note=Cytoplasmic surface of postsynaptic membranes.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RAPSN Gene COMPARTMENTS Subcellular localization image for RAPSN gene
Compartment Confidence
cytoskeleton 5
plasma membrane 5
cytosol 3
golgi apparatus 2
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for RAPSN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005794 Golgi apparatus IEA --
GO:0005813 centrosome IDA --
GO:0005856 cytoskeleton --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with RAPSN: view

Pathways for RAPSN Gene

genes like me logo Genes that share pathways with RAPSN: view

Pathways by source for RAPSN Gene

1 Qiagen pathway for RAPSN Gene

Gene Ontology (GO) - Biological Process for RAPSN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007268 synaptic transmission TAS 8812503
GO:0007271 synaptic transmission, cholinergic IGI 18420419
GO:0043525 positive regulation of neuron apoptotic process IEA --
GO:0071340 skeletal muscle acetylcholine-gated channel clustering IEA --
GO:1900075 positive regulation of neuromuscular synaptic transmission IEA --
genes like me logo Genes that share ontologies with RAPSN: view

Compounds for RAPSN Gene

(10) Novoseek inferred chemical compound relationships for RAPSN Gene

Compound -log(P) Hits PubMed IDs
acetylcholine 82.5 49
tyrosine 49.3 24
phosphotyrosine 47.1 4
choline 37.6 3
herbimycin a 36 1
genes like me logo Genes that share compounds with RAPSN: view

Transcripts for RAPSN Gene

Unigene Clusters for RAPSN Gene

Receptor-associated protein of the synapse:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RAPSN Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b
SP1:
SP2: - -

Relevant External Links for RAPSN Gene

GeneLoc Exon Structure for
RAPSN
ECgene alternative splicing isoforms for
RAPSN

Expression for RAPSN Gene

mRNA expression in normal human tissues for RAPSN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RAPSN Gene

This gene is overexpressed in Muscle - Skeletal (38.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for RAPSN Gene

SOURCE GeneReport for Unigene cluster for RAPSN Gene Hs.81218

genes like me logo Genes that share expressions with RAPSN: view

No data available for mRNA Expression by UniProt/SwissProt for RAPSN Gene

Orthologs for RAPSN Gene

This gene was present in the common ancestor of animals.

Orthologs for RAPSN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAPSN 35
  • 99.27 (n)
  • 99.76 (a)
RAPSN 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RAPSN 35
  • 93.12 (n)
  • 96.6 (a)
RAPSN 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RAPSN 35
  • 92.8 (n)
  • 96.36 (a)
RAPSN 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rapsn 35
  • 89.32 (n)
  • 96.12 (a)
Rapsn 16
Rapsn 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RAPSN 36
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rapsn 35
  • 89.6 (n)
  • 96.66 (a)
chicken
(Gallus gallus)
Aves RAPSN 35
  • 77.02 (n)
  • 83.25 (a)
RAPSN 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RAPSN 36
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rapsn 35
  • 77.18 (n)
  • 81.55 (a)
zebrafish
(Danio rerio)
Actinopterygii rapsn 35
  • 71.36 (n)
  • 74.76 (a)
rapsn 36
  • 75 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG1909 35
  • 43.23 (n)
  • 31.47 (a)
CG1909 36
  • 20 (a)
OneToOne
CG1909 37
  • 30 (a)
worm
(Caenorhabditis elegans)
Secernentea rpy-1 35
  • 43.3 (n)
  • 33.92 (a)
rpy-1 36
  • 21 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 27 (a)
OneToMany
-- 36
  • 40 (a)
OneToMany
Species with no ortholog for RAPSN:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RAPSN Gene

ENSEMBL:
Gene Tree for RAPSN (if available)
TreeFam:
Gene Tree for RAPSN (if available)

Paralogs for RAPSN Gene

No data available for Paralogs for RAPSN Gene

Variants for RAPSN Gene

Sequence variations from dbSNP and Humsavar for RAPSN Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs1050935 -- 47,449,016(-) CCTAG(A/T)GGCCA utr-variant-5-prime
rs1131389 -- 47,448,145(-) TTCGC(C/T)GTGGT synonymous-codon, reference
rs1185591 -- 47,446,845(-) tcact(A/G)caacc intron-variant
rs3740684 -- 47,447,268(-) AAAGC(A/G)AAGCG intron-variant
rs3740685 -- 47,447,239(-) ACTGG(A/G)CGTGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RAPSN Gene

Variant ID Type Subtype PubMed ID
nsv897323 CNV Loss 21882294
nsv832141 CNV Loss 17160897
nsv897325 CNV Loss 21882294

Relevant External Links for RAPSN Gene

HapMap Linkage Disequilibrium report
RAPSN
Human Gene Mutation Database (HGMD)
RAPSN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAPSN Gene

Disorders for RAPSN Gene

(2) OMIM Diseases for RAPSN Gene (601592)

UniProtKB/Swiss-Prot

RAPSN_HUMAN
  • Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931]: A post-synaptic congenital myasthenic syndrome. Congenital myasthenic syndromes (CMS) are inherited disorders of neuromuscular transmission that stem from mutations in presynaptic, synaptic, or postsynaptic proteins. {ECO:0000269 PubMed:11791205, ECO:0000269 PubMed:12730725, ECO:0000269 PubMed:12796535, ECO:0000269 PubMed:12929188, ECO:0000269 PubMed:14504330, ECO:0000269 PubMed:15036330, ECO:0000269 PubMed:15328566, ECO:0000269 PubMed:16931511, ECO:0000269 PubMed:17594401}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Fetal akinesia deformation sequence (FADS) [MIM:208150]: A clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. Clinical features include fetal akinesia, intrauterine growth retardation, polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial abnormalities, and cryptorchidism. {ECO:0000269 PubMed:18179903, ECO:0000269 PubMed:18252226}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for RAPSN Gene

(4) Novoseek inferred disease relationships for RAPSN Gene

Disease -log(P) Hits PubMed IDs
myasthenic syndromes congenital 95.3 17
postsynaptic congenital myasthenic syndromes 94.7 4
myasthenia gravis 66.7 7
arthrogryposis 59 1

Relevant External Links for RAPSN

GeneTests
RAPSN
GeneReviews
RAPSN
Genetic Association Database (GAD)
RAPSN
Human Genome Epidemiology (HuGE) Navigator
RAPSN
genes like me logo Genes that share disorders with RAPSN: view

Publications for RAPSN Gene

  1. Cloning of cDNA encoding human rapsyn and mapping of the RAPSN gene locus to chromosome 11p11.2-p11.1. (PMID: 8812503) Buckel A. … Vincent A. (Genomics 1996) 2 3 4 23
  2. Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. (PMID: 11791205) Ohno K. … Milone M. (Am. J. Hum. Genet. 2002) 3 4 23
  3. Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering. (PMID: 12929188) Maselli R.A. … Wollmann R.L. (Muscle Nerve 2003) 3 4 23
  4. Identification of pathogenic mutations in the human rapsyn gene. (PMID: 12730725) Dunne V. … Maselli R.A. (J. Hum. Genet. 2003) 3 4 23
  5. Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. (PMID: 12796535) Mueller J.S. … Abicht A. (Neurology 2003) 3 4 23

Products for RAPSN Gene

Sources for RAPSN Gene

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