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 enable acetylcholine receptor binding activity. Acts upstream of or within chemical synaptic transmission and synapse assembly. Predicted to be located in synapse. Predicted to be active in neuromuscular junction and plasma membrane. Is expressed in muscle cell; musculature system; myotome; and pectoral fin musculature. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 11 and fetal akinesia deformation sequence syndrome 2. 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