Gene
rapsn
- ID
- ZDB-GENE-030313-1
- Name
- receptor-associated protein of the synapse, 43kD
- Symbol
- rapsn Nomenclature History
- Previous Names
-
- rapsyn
- twitch once
- two
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Predicted to have acetylcholine receptor binding activity; metal ion binding activity; and protein membrane adaptor. Involved in chemical synaptic transmission and synapse assembly. Predicted to localize to synapse. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 11 and fetal akinesia deformation sequence syndrome 2. Is expressed in muscle cell; musculature system; myotome; and pectoral fin musculature. Orthologous to human RAPSN (receptor associated protein of the synapse).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu1040 (9 images)
Wild Type Expression Summary
- All Phenotype Data
- 12 figures from 3 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital myasthenic syndrome 11 | Alliance | Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | 616326 |
| fetal akinesia deformation sequence syndrome 2 | Alliance | Fetal akinesia deformation sequence 2 | 618388 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018293 | 43kDa postsynaptic, conserved site |
| Domain | IPR001841 | Zinc finger, RING-type |
| Domain | IPR019568 | Rapsyn, myristoylation/linker region, N-terminal |
| Family | IPR001237 | 43kDa postsynaptic protein |
| Family | IPR052480 | Receptor-associated synaptic protein |
| Homologous_superfamily | IPR011990 | Tetratricopeptide-like helical domain superfamily |
| Homologous_superfamily | IPR013083 | Zinc finger, RING/FYVE/PHD-type |
| Repeat | IPR019734 | Tetratricopeptide repeat |
Domain Details Per Protein
| Protein | Length | 43kDa postsynaptic, conserved site | 43kDa postsynaptic protein | Rapsyn, myristoylation/linker region, N-terminal | Receptor-associated synaptic protein | Tetratricopeptide-like helical domain superfamily | Tetratricopeptide repeat | Zinc finger, RING/FYVE/PHD-type | Zinc finger, RING-type |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q8QGW4
|
412 |
Interactions and Pathways
No data available
Plasmids
No data available