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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]
RAPSN (Receptor Associated Protein Of The Synapse) is a Protein Coding gene. Diseases associated with RAPSN include Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency and Fetal Akinesia Deformation Sequence 2. Among its related pathways are Agrin Interactions at Neuromuscular Junction. Gene Ontology (GO) annotations related to this gene include ionotropic glutamate receptor binding and acetylcholine receptor binding. An important paralog of this gene is TTC28.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA | -- |
GO:0033130 | acetylcholine receptor binding | IEA,IDA | 18420419 |
GO:0035255 | ionotropic glutamate receptor binding | IEA | -- |
GO:0043495 | protein membrane anchor | IEA | -- |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005794 | Golgi apparatus | IEA | -- |
GO:0005813 | centrosome | IDA | -- |
GO:0005829 | cytosol | IDA | -- |
GO:0005856 | cytoskeleton | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Agrin Interactions at Neuromuscular Junction |
Agrin Interactions at Neuromuscular Junction
-
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007268 | chemical synaptic transmission | IEA,TAS | 8812503 |
GO:0007271 | synaptic transmission, cholinergic | IGI | 18420419 |
GO:0043525 | positive regulation of neuron apoptotic process | IEA | -- |
GO:1900075 | positive regulation of neuromuscular synaptic transmission | IEA | -- |
GO:1901626 | regulation of postsynaptic membrane organization | IEA | -- |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||
SP2: | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RAPSN 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RAPSN 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RAPSN 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Rapsn 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Rapsn 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | RAPSN 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | RAPSN 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | RAPSN 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rapsn 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | rapsn 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG1909 30 31 32 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | rpy-1 30 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
639207 | Uncertain Significance: Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency; Pena-Shokeir syndrome type I | 47,441,837(-) | G/C | MISSENSE_VARIANT | |
639907 | Uncertain Significance: Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency; Pena-Shokeir syndrome type I | 47,448,804(-) | G/A | MISSENSE_VARIANT | |
640470 | Uncertain Significance: Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency; Pena-Shokeir syndrome type I | 47,442,778(-) | C/A | MISSENSE_VARIANT | |
640683 | Uncertain Significance: Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency; Pena-Shokeir syndrome type I | 47,448,123(-) | G/A | MISSENSE_VARIANT | |
641067 | Uncertain Significance: Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency; Pena-Shokeir syndrome type I | 47,441,685(-) | C/T | MISSENSE_VARIANT,INTRON_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency |
|
|
fetal akinesia deformation sequence 2 |
|
|
fetal akinesia deformation sequence 1 |
|
|
postsynaptic congenital myasthenic syndromes |
|
|
congenital myasthenic syndrome |
|