Property Summary

NCBI Gene PubMed Count 39
PubMed Score 129.65
PubTator Score 126.61

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
medulloblastoma, large-cell 1.400 2.5e-02

Gene RIF (17)

PMID Text
26330529 These findings uncover a new link between rapsyn, lysosome positioning, exocytosis and plasma membrane integrity.
22326364 Two siblings affected with typical congenital myasthenic syndrome harbor the common heterozygous (-38A-G) E-box mutation associated with a previously unreported heterozygous p.224 insT, causing an insertion of threonine in the TPR6 domain.
21372719 a mutation of the RAPSN gene may have a role in development of congenital myasthenic syndrome after general anaesthesia [case report]
21305573 Investigation of mutations in RAPSN determines that patients with congenital myasthenic syndrome can be misdiagnosed with seronegative myasthenia gravis.
20978122 nAChR mobility in plasma membranes of myoblast cells during their differentiation to myotubes in the presence and absence of rapsyn
20930056 An allelic quantification on patient's DNA identified three novel multi-exon deletions of RAPSN.
19620612 All but 1 patient presented early in life and most responded to cholinergic agonists. With early diagnosis and therapy, rapsyn deficiency has a benign course in most patients.
18179903 No CHRNA1, CHRNB1, or CHRND mutations were detected, but a homozygous RAPSN frameshift mutation, c.1177-1178delAA, was identified in a family with three children affected with lethal fetal akinesia sequence.
16931511 Screening for the common mutation RAPSN N88K facilitates targeted genetic analysis in congenital myasthenic syndromes.
15482960 The patient presents with an early onset sporadic congenital myasthenic syndrome was found The mutation RAPSN N88K was found heterozygously to a large deletion of about 4.5 kb disrupting the RAPSN gene.
15282317 These results provide the first experimental evidence that rapsyn is a direct sequence-specific target of Kaiso and delta-catenin.
15252722 recombination events may have occurred within the rapsyn gene and that this may have implications in the phenotypic expression of postsynaptic congenital myasthenic syndrome
15036330 Rapsyn is essential for clustering the acetylcholine receptor at the postsynaptic membrane of the neuromuscular junction.
12807980 Twenty patients with the recessive form of congenital myasthenic syndrome with no mutations in the AChR subunit have been tested for this gene; five patients have been found to carry mutations.
12730725 Four patients from four different families with RAPSN mutations and congenital myasthenic syndrome
12651869 E-box mutations in the RAPSN promoter region may have a role in congenital myasthenic syndrome
11791205 Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome

AA Sequence

MGQDQTKQQIEKGLQLYQSNQTEKALQVWTKVLEKSSDLMGRFRVLGCLVTAHSEMGRYKEMLKFAVVQI      1 - 70
DTARELEDADFLLESYLNLARSNEKLCEFHKTISYCKTCLGLPGTRAGAQLGGQVSLSMGNAFLGLSVFQ     71 - 140
KALESFEKALRYAHNNDDAMLECRVCCSLGSFYAQVKDYEKALFFPCKAAELVNNYGKGWSLKYRAMSQY    141 - 210
HMAVAYRLLGRLGSAMECCEESMKIALQHGDRPLQALCLLCFADIHRSRGDLETAFPRYDSAMSIMTEIG    211 - 280
NRLGQVQALLGVAKCWVARKALDKALDAIERAQDLAEEVGNKLSQLKLHCLSESIYRSKGLQRELRAHVV    281 - 350
RFHECVEETELYCGLCGESIGEKNSRLQALPCSHIFHLRCLQNNGTRSCPNCRRSSMKPGFV            351 - 412
//

Text Mined References (41)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26330529 2015 Failure of lysosome clustering and positioning in the juxtanuclear region in cells deficient in rapsyn.
25173106 2014 Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.
22326364 2012 A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome.
21372719 2011 Diagnosis of congenital myasthenic syndrome with mutation of the RAPSN gene after general anaesthesia.
21305573 2011 Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients.
20978122 2011 Acetylcholine receptor organization in membrane domains in muscle cells: evidence for rapsyn-independent and rapsyn-dependent mechanisms.
20930056 2010 Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing.
19620612 2009 Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.
19158078 2009 Control of rapsyn stability by the CUL-3-containing E3 ligase complex.
18420419 2008 Muscle-like nicotinic receptor accessory molecules in sensory hair cells of the inner ear.
18252226 2008 Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.
18179903 2008 Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17594401 2007 Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations.
16931511 2006 Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations.
16280586 2005 Src-family kinases stabilize the neuromuscular synapse in vivo via protein interactions, phosphorylation, and cytoskeletal linkage of acetylcholine receptors.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15482960 2004 A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome.
15328566 2004 Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms.
15282317 2004 Regulation of the rapsyn promoter by kaiso and delta-catenin.
15252722 2004 Common founder effect of rapsyn N88K studied using intragenic markers.
15036330 2004 Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine.
14504330 2003 Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes.
12929188 2003 Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering.
12807980 2003 Possible founder effect of rapsyn N88K mutation and identification of novel rapsyn mutations in congenital myasthenic syndromes.
12796535 2003 Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.
12730725 2003 Identification of pathogenic mutations in the human rapsyn gene.
12651869 2003 E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12388596 2002 Rapsyn escorts the nicotinic acetylcholine receptor along the exocytic pathway via association with lipid rafts.
11791205 2002 Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.
11342559 2001 Interactions of the rapsyn RING-H2 domain with dystroglycan.
11323662 2001 Distinct roles of nerve and muscle in postsynaptic differentiation of the neuromuscular synapse.
10859577 1999 Overexpression of rapsyn inhibits agrin-induced acetylcholine receptor clustering in muscle cells.
10477765 1999 Distinct domains of MuSK mediate its abilities to induce and to associate with postsynaptic specializations.
9804166 1998 Identification of a Torpedo homolog of Sam68 that interacts with the synapse organizing protein rapsyn.
9520483 1998 Mechanism of nicotinic acetylcholine receptor cluster formation by rapsyn.
9136771 1997 Rapsyn is required for MuSK signaling and recruits synaptic components to a MuSK-containing scaffold.
8812503 1996 Cloning of cDNA encoding human rapsyn and mapping of the RAPSN gene locus to chromosome 11p11.2-p11.1.
7619516 1995 Rapsyn may function as a link between the acetylcholine receptor and the agrin-binding dystrophin-associated glycoprotein complex.