| URN | urn:agi-llid:5913 |
|---|---|
| Total Entities | 0 |
| Connectivity | 126 |
| Name | Rapsn |
| Description | receptor-associated protein of the synapse |
| Notes | 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] |
| GO Molecular Function | acetylcholine receptor binding |
|---|---|
| ionotropic glutamate receptor binding | |
| metal ion binding | |
| zinc ion binding |
| GO Cellular Component | cell junction |
|---|---|
| membrane | |
| synapse | |
| plasma membrane | |
| cytoplasm | |
| Golgi apparatus | |
| cytoskeleton | |
| postsynaptic membrane | |
| neuromuscular junction |
| GO Biological Process | synaptic transmission |
|---|---|
| synaptic transmission, cholinergic | |
| positive regulation of neuron apoptotic process |
| Pathway | acetylcholine signaling pathway via nicotinic acetylcholine receptor |
|---|
| Group | synaptic transmission |
|---|---|
| synaptic transmission, cholinergic | |
| positive regulation of neuron apoptotic process | |
| acetylcholine receptor binding | |
| ionotropic glutamate receptor binding | |
| metal ion binding | |
| zinc ion binding | |
| cell junction | |
| membrane | |
| synapse | |
| plasma membrane | |
| cytoplasm | |
| Golgi apparatus | |
| cytoskeleton | |
| postsynaptic membrane | |
| neuromuscular junction |
| MedScan ID | 5913 |
|---|
| Hugo ID | 9863 |
|---|
| Human chromosome position | 11p11.2 |
|---|
| LocusLink ID | 5913 |
|---|---|
| 19400 | |
| 362161 |
| Alias | RAPSYN |
|---|---|
| RNF205 | |
| 43 kDa receptor-associated protein of the synapse | |
| RING finger protein 205 | |
| 43 kda postsynaptic protein | |
| acetylcholine receptor-associated 43 kda protein | |
| Raps | |
| 43kDa | |
| Nraps | |
| RP23-147D3.9 | |
| 43kDa acetylcholine receptor-associated protein | |
| receptor-associated protein of the synapse, 43 kDa | |
| OTTMUSP00000015159 | |
| Rapsn | |
| receptor-associated protein of the synapse | |
| receptor-associated protein of the synapse, 43kD | |
| rapsyn 43kDa | |
| 43 kD receptor-associated protein of the synapse isoform 1 | |
| nicotinic acetylcholine receptor-associated 46K protein | |
| 43 kD receptor-associated of the synapse | |
| 43 kD receptor-associated protein of the synapse isoform 2 | |
| 43 kD receptor-associated protein of the synapse isoform I | |
| 43 kD receptor-associated protein of the synapse isoform II | |
| 43kDa rapsyn | |
| MGC3597 | |
| LOC85713 | |
| MGC130501 |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 601592 |
|---|---|
| 608931 | |
| 208150 |
| Unigene ID | Hs.81218 |
|---|---|
| Mm.1272 | |
| Rn.17149 |
| KEGG ID | hsa:5913 |
|---|---|
| mmu:19400 | |
| rno:362161 |
| Swiss-Prot Accession | Q13702 |
|---|---|
| P12672 | |
| D3ZPG2 | |
| Q2M2N6 | |
| Q8TDF3 | |
| Q9BTD9 |
| GO ID | 0033130 |
|---|---|
| 0008270 | |
| 0043525 | |
| 0007268 | |
| 0007271 | |
| 0005794 | |
| 0030054 | |
| 0005737 | |
| 0005856 | |
| 0031594 | |
| 0005886 | |
| 0045211 | |
| 0035255 | |
| 0046872 | |
| 0016020 | |
| 0045202 |
| PIR ID | A31995 |
|---|---|
| S45064 |
| Swiss-Prot ID | RAPSN_MOUSE |
|---|---|
| RAPSN_HUMAN |
| Cell Localization | Cell membrane |
|---|---|
| Cell junction | |
| synapse | |
| postsynaptic cell membrane | |
| Cytoplasm | |
| cytoskeleton |
| IPI ID | IPI00222353 |
|---|---|
| IPI00013319 | |
| IPI00828059 |
| Mouse chromosome position | 2 47.5 cM |
|---|
| Rat chromosome position | 3q24 |
|---|
| Homologene ID | 3708 |
|---|
| MGI ID | 99422 |
|---|
| RGD ID | 1311592 |
|---|