Protein detail
RAPSN
43 kDa receptor-associated protein of the synapse (RAPsyn) (43 kDa postsynaptic protein) (Acetylcholine receptor-associated 43 kDa protein) (RING finger protein 205)
Protein symbol RAPSN | UniProt ID | EVMP score 0.50 |
Frequency 2 | Transmembrane count | Protein classification Disease related genesHuman disease related genesPredicted intracellular proteins |
EVMP score: annotation confidence score.
Extremely high >= 0.85High >= 0.70Medium >= 0.55Low >= 0.40
Basic Information
Protein Names
43 kDa receptor-associated protein of the synapse (RAPsyn) (43 kDa postsynaptic protein) (Acetylcholine receptor-associated 43 kDa protein) (RING finger protein 205)
Protein Class
Disease related genesHuman disease related genesPredicted intracellular proteins
Protein Function
- Disease related genes
- Human disease related genes:Nervous system diseases:Other nervous and sensory system diseases
- Human disease related genes:Congenital malformations:Other congenital malformations
- Predicted intracellular proteins
Ensembl
Entrez Gene Symbol
Gene Synonym
CMS1DCMS1ERNF205
Gene Description
Receptor associated protein of the synapse
Chromosome
11
Position
47437764-47449143
Frequency
2
EVMP Score
0.50
Fluorescence & Localization
Function & Pathway
Protein Function
- Disease related genes
- Human disease related genes:Nervous system diseases:Other nervous and sensory system diseases
- Human disease related genes:Congenital malformations:Other congenital malformations
- Predicted intracellular proteins
Cellular Component
Molecular Function
Biological Process
Mediation Categories
Adhesion and uptake mediation
Relations & Evidence
Enzyme-Mediated Modification
0 records.
Ligand-Receptor Signaling
7 records.
| Category | Parent | Database | Transmitter | Receiver | Secreted | Plasma Membrane (Transmembrane) | Plasma Membrane (Peripheral) |
|---|---|---|---|---|---|---|---|
| intracellular | intracellular | LOCATE | No | No | No | No | No |
| intracellular | intracellular | ComPPI | No | No | No | No | No |
| intracellular | intracellular | GO_Intercell | No | No | No | No | No |
| intracellular | intracellular | UniProt_location | No | No | No | No | No |
| intracellular | intracellular | OmniPath | No | No | No | No | No |
| plasma_membrane | plasma_membrane | UniProt_location | No | No | No | No | No |
| plasma_membrane | plasma_membrane | OmniPath | No | No | No | No | No |
Regulatory Interaction Network
138 records.
| Source Protein Symbol | Source UniProt ID | Target Protein Symbol | Target UniProt ID | Is Directed | Is Stimulation | Is Inhibition | Database | References |
|---|---|---|---|---|---|---|---|---|
| COMPLEX:P62979_Q96B02 | RAPSN | Q13702 | Yes | Yes | No | SIGNOR | SIGNOR:34199813 | |
| COMPLEX:P0CG48_Q9NR09 | RAPSN | Q13702 | Yes | Yes | No | SIGNOR | SIGNOR:34199813 | |
| COMPLEX:P62979_Q96LR5 | RAPSN | Q13702 | Yes | Yes | No | SIGNOR | SIGNOR:34199813 | |
| COMPLEX:P0CG47_P49459 | RAPSN | Q13702 | Yes | Yes | No | SIGNOR | SIGNOR:34199813 | |
| COMPLEX:O00762_P0CG48 | RAPSN | Q13702 | Yes | Yes | No | SIGNOR | SIGNOR:34199813 | |
| COMPLEX:P0CG47_Q969T4 | RAPSN | Q13702 | Yes | Yes | No | SIGNOR | SIGNOR:34199813 | |
| COMPLEX:P0CG47_Q5JXB2 | RAPSN | Q13702 | Yes | Yes | No | SIGNOR | SIGNOR:34199813 | |
| COMPLEX:P62979_Q16763 | RAPSN | Q13702 | Yes | Yes | No | SIGNOR | SIGNOR:34199813 | |
| COMPLEX:P0CG47_Q712K3 | RAPSN | Q13702 | Yes | Yes | No | SIGNOR | SIGNOR:34199813 | |
| COMPLEX:P0CG48_Q7Z7E8 | RAPSN | Q13702 | Yes | Yes | No | SIGNOR | SIGNOR:34199813 |
Protein Complex Composition
6 records.
| Component Name | Component Gene Symbols | Component UniProt ID | Stoichiometry | Database | Database IDs | References |
|---|---|---|---|---|---|---|
| Ub:RING_E3 | RAPSNUBB | P0CG47Q13702 | 0:0 | SIGNOR | SIGNOR:SIGNOR-C519 | |
| Ub:RING_E3 | RAPSNUBC | P0CG48Q13702 | 0:0 | SIGNOR | SIGNOR:SIGNOR-C519 | |
| Ub:RING_E3 | RAPSNRPS27A | P62979Q13702 | 0:0 | SIGNOR | SIGNOR:SIGNOR-C519 | |
| Ub:RING_E3 | RAPSNUBA52 | P62987Q13702 | 0:0 | SIGNOR | SIGNOR:SIGNOR-C519 | |
| AZU1DMXL2DNAJC3FTH1HYOU1NAGLURAPSNTOR1AUGGT1 | O14656P02794P20160P54802Q13217Q13702Q8TDJ6Q9NYU2Q9Y4L1 | 1:1:1:1:1:1:1:1:1 | NetworkBlastCompleat | Compleat:HC7914 | ||
| DNAJC3FTH1HYOU1NAGLURAPSNSUCLA2 | P02794P54802Q13217Q13702Q9P2R7Q9Y4L1 | 1:1:1:1:1:1 | NetworkBlastCompleat | Compleat:HC7389 |
Sequence, Structure & Domains
Sequences
Length
412
Mass
46,328
Sequence
MGQDQTKQQIEKGLQLYQSNQTEKALQVWTKVLEKSSDLMGRFRVLGCLVTAHSEMGRYKEMLKFAVVQIDTARELEDADFLLESYLNLARSNEKLCEFHKTISYCKTCLGLPGTRAGAQLGGQVSLSMGNAFLGLSVFQKALESFEKALRYAHNNDDAMLECRVCCSLGSFYAQVKDYEKALFFPCKAAELVNNYGKGWSLKYRAMSQYHMAVAYRLLGRLGSAMECCEESMKIALQHGDRPLQALCLLCFADIHRSRGDLETAFPRYDSAMSIMTEIGNRLGQVQALLGVAKCWVARKALDKALDAIERAQDLAEEVGNKLSQLKLHCLSESIYRSKGLQRELRAHVVRFHECVEETELYCGLCGESIGEKNSRLQALPCSHIFHLRCLQNNGTRSCPNCRRSSMKPGFV
Alternative Products
Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q13702-1; Sequence=Displayed; Name=2; IsoId=Q13702-2; Sequence=VSP_005533
Alternative Sequence
264..322; Missing (in isoform 2)
3D Structural Models
Domain & Motif Annotations
Repeat
6..39; TPR 1; 83..116; TPR 2; 123..156; TPR 3; 163..196; TPR 4; 206..239; TPR 5; 246..279; TPR 6; 286..319; TPR 7
Zinc Finger
363..403; RING-type
Domain (CC)
A cysteine-rich region homologous to part of the regulatory domain of protein kinase C may be important in interactions of this protein with the lipid bilayer.
Protein Families
RAPsyn family
Sequence Similarities
Belongs to the RAPsyn family.
Clinical Relevance
Disease Involvement
Congenital myasthenic syndromeDisease variant
Antibody