Property Summary

NCBI Gene PubMed Count 39
Grant Count 88
R01 Count 64
Funding $8,967,589.79
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 0.025

Synonym

Accession Q13702 Q8TDF3 Q9BTD9 RAPsyn
Symbols FADS
CMS11
CMS4C
RAPSYN
RNF205

Gene

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.
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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.
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