RAPSN receptor-associated protein of the synapse [Homo sapiens (human)]
| Gene Symbol | RAPSN |
| Entrez Gene ID | 5913 |
| Full Name | receptor-associated protein of the synapse |
| Synonyms | MGC3597, RAPSYN, RNF205 |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
11 11p11.2 |
| Summary | 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]. |
| Disorder | MIM: 601592 Myasthenic syndrome, congenital, associated with acetylcholine |
| mRNA | NM_032645, 328802669 |
| Protein | NP_116034, 38045928 |
| Product | 43 kDa receptor-associated protein of the synapse isoform 2 |
| RefSeq Status | REVIEWED |
| mRNA | NM_005055, 328802668 |
| Protein | NP_005046, 15619013 |
| Product | 43 kDa receptor-associated protein of the synapse isoform 1 |
| RefSeq Status | REVIEWED |
| Homo sapiens (human) | RAPSN | NP_005046.2 |
| Pan troglodytes (chimpanzee) | RAPSN | XP_001168947.1 |
| Canis lupus familiaris (dog) | RAPSN | XP_850095.1 |
| Mus musculus (house mouse) | Rapsn | NP_033049.1 |
| Rattus norvegicus (Norway rat) | Rapsn | XP_215773.3 |
| Gallus gallus (chicken) | RAPSN | NP_990428.1 |
| Danio rerio (zebrafish) | rapsn | NP_840090.1 |
| Drosophila melanogaster (fruit fly) | CG1909 | NP_651928.1 |
| Caenorhabditis elegans | rpy-1 | NP_495365.1 |
| ID | Name | Evidence |
| GO:0007268 | synaptic transmission | TAS |
| GO:0007271 | synaptic transmission, cholinergic | IGI |
| GO:0043525 | positive regulation of neuron apoptosis | IEA |
Component
| ID | Name | Evidence |
| GO:0005737 | cytoplasm | IEA |
| GO:0005794 | Golgi apparatus | IEA |
| GO:0005856 | cytoskeleton | IEA |
| GO:0005886 | plasma membrane | IEA |
| GO:0030054 | cell junction | IEA |
| GO:0031594 | neuromuscular junction | IEA |
| GO:0045211 | postsynaptic membrane | IEA |
Function
| ID | Name | Evidence |
| GO:0005488 | binding | IEA |
| GO:0008270 | zinc ion binding | IEA |
| GO:0033130 | acetylcholine receptor binding | IDA |
| GO:0046872 | metal ion binding | IEA |
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