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 activity. Involved in chemical synaptic transmission and synapse assembly. Predicted to localize to synapse. 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
Expression
All Expression Data
10 figures from 3 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
12 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With rapsn Human Ortholog
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
Associated With rapsn Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR018293 43kDa postsynaptic, conserved site
Domain IPR001841 Zinc finger, RING-type
Domain IPR013026 Tetratricopeptide repeat-containing domain
Domain IPR019568 Rapsyn, myristoylation/linker region, N-terminal
Family IPR001237 43kDa postsynaptic 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 Tetratricopeptide-like helical domain superfamily Tetratricopeptide repeat Tetratricopeptide repeat-containing domain Zinc finger, RING/FYVE/PHD-type Zinc finger, RING-type
UniProtKB:Q8QGW4 412
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-rapsn polyclonal IgG Rabbit
  • IHC
Abcam plc
2
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations