UniProtKB - Q13702 (RAPSN_HUMAN)
Protein
43 kDa receptor-associated protein of the synapse
Gene
RAPSN
Organism
Homo sapiens (Human)
Status
Functioni
Postsynaptic protein required for clustering of nicotinic acetylcholine receptors (nAChRs) at the neuromuscular junction. It may link the receptor to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin.
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 363 – 403 | RING-typePROSITE-ProRule annotationAdd BLAST | 41 |
GO - Molecular functioni
- acetylcholine receptor binding Source: MGI
- ionotropic glutamate receptor binding Source: Ensembl
- metal ion binding Source: UniProtKB-KW
- protein-membrane adaptor activity Source: InterPro
GO - Biological processi
- chemical synaptic transmission Source: ProtInc
- establishment of protein localization to postsynaptic membrane Source: Ensembl
- positive regulation of neuromuscular synaptic transmission Source: Ensembl
- positive regulation of neuron apoptotic process Source: Ensembl
- regulation of postsynaptic membrane organization Source: Ensembl
- synaptic transmission, cholinergic Source: MGI
Keywordsi
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | Q13702 |
Names & Taxonomyi
Protein namesi | Recommended name: 43 kDa receptor-associated protein of the synapseShort name: RAPsyn Alternative name(s): 43 kDa postsynaptic protein Acetylcholine receptor-associated 43 kDa protein RING finger protein 205 |
Gene namesi | Name:RAPSN Synonyms:RNF205 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000165917.9 |
HGNCi | HGNC:9863, RAPSN |
MIMi | 601592, gene |
neXtProti | NX_Q13702 |
Subcellular locationi
Plasma membrane
Cytoskeleton
Note: Cytoplasmic surface of postsynaptic membranes.
Cytoskeleton
- centrosome Source: HPA
Cytosol
- cytosol Source: HPA
Golgi apparatus
- Golgi apparatus Source: Ensembl
Plasma Membrane
- plasma membrane Source: HPA
- postsynaptic specialization membrane Source: Ensembl
Other locations
- neuromuscular junction Source: Ensembl
Keywords - Cellular componenti
Cell junction, Cell membrane, Cytoplasm, Cytoskeleton, Membrane, Postsynaptic cell membrane, SynapsePathology & Biotechi
Involvement in diseasei
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (CMS11)9 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS11 is an autosomal recessive disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_021216 | 14 | L → P in CMS11. 3 PublicationsCorresponds to variant dbSNP:rs104894300EnsemblClinVar. | 1 | |
Natural variantiVAR_043898 | 45 | V → M in CMS11; reduced coclustering with acetylcholine receptor. 1 PublicationCorresponds to variant dbSNP:rs121909254EnsemblClinVar. | 1 | |
Natural variantiVAR_021217 | 88 | N → K in CMS11. 7 PublicationsCorresponds to variant dbSNP:rs104894299EnsemblClinVar. | 1 | |
Natural variantiVAR_043900 | 162 | E → K in CMS11; reduced coclustering with acetylcholine receptor. 1 PublicationCorresponds to variant dbSNP:rs121909255EnsemblClinVar. | 1 | |
Natural variantiVAR_043901 | 164 | R → C in CMS11; reduced coclustering with acetylcholine receptor. 1 PublicationCorresponds to variant dbSNP:rs104894294EnsemblClinVar. | 1 | |
Natural variantiVAR_043903 | 283 | L → P in CMS11; reduced coclustering with acetylcholine receptor. 1 PublicationCorresponds to variant dbSNP:rs104894293EnsemblClinVar. | 1 |
Fetal akinesia deformation sequence 2 (FADS2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. Clinical features include fetal akinesia, intrauterine growth retardation, polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial abnormalities, and cryptorchidism. FADS2 inheritance is autosomal recessive.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_043899 | 139 | F → S in FADS2. 1 PublicationCorresponds to variant dbSNP:rs121909256EnsemblClinVar. | 1 | |
Natural variantiVAR_043902 | 189 | A → V in FADS2. 1 PublicationCorresponds to variant dbSNP:rs121909257EnsemblClinVar. | 1 |
Keywords - Diseasei
Congenital myasthenic syndrome, Disease mutationOrganism-specific databases
DisGeNETi | 5913 |
GeneReviewsi | RAPSN |
MalaCardsi | RAPSN |
MIMi | 616326, phenotype 618388, phenotype |
OpenTargetsi | ENSG00000165917 |
Orphaneti | 994, Fetal akinesia deformation sequence 33108, Lethal multiple pterygium syndrome 98913, Postsynaptic congenital myasthenic syndromes |
PharmGKBi | PA34224 |
Miscellaneous databases
Pharosi | Q13702, Tbio |
Chemistry databases
ChEMBLi | CHEMBL2163166 |
Polymorphism and mutation databases
BioMutai | RAPSN |
DMDMi | 145559521 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | Removed | |||
ChainiPRO_0000167591 | 2 – 412 | 43 kDa receptor-associated protein of the synapseAdd BLAST | 411 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Lipidationi | 2 | N-myristoyl glycineBy similarity | 1 | |
Modified residuei | 196 | PhosphotyrosineSequence analysis | 1 | |
Modified residuei | 405 | PhosphoserineSequence analysis | 1 |
Post-translational modificationi
Ubiquitinated by the BCR(KLHL8) complex, leading to its degradation.1 Publication
Keywords - PTMi
Lipoprotein, Myristate, Phosphoprotein, Ubl conjugationProteomic databases
PaxDbi | Q13702 |
PeptideAtlasi | Q13702 |
PRIDEi | Q13702 |
ProteomicsDBi | 59664 [Q13702-1] 59665 [Q13702-2] |
PTM databases
iPTMneti | Q13702 |
PhosphoSitePlusi | Q13702 |
Expressioni
Gene expression databases
Bgeei | ENSG00000165917, Expressed in muscle of leg and 109 other tissues |
ExpressionAtlasi | Q13702, baseline and differential |
Genevisiblei | Q13702, HS |
Organism-specific databases
HPAi | ENSG00000165917, Group enriched (skeletal muscle, tongue) |
Interactioni
GO - Molecular functioni
- acetylcholine receptor binding Source: MGI
- ionotropic glutamate receptor binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 111848, 7 interactors |
IntActi | Q13702, 4 interactors |
STRINGi | 9606.ENSP00000298854 |
Miscellaneous databases
RNActi | Q13702, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 6 – 39 | TPR 1Add BLAST | 34 | |
Repeati | 83 – 116 | TPR 2Add BLAST | 34 | |
Repeati | 123 – 156 | TPR 3Add BLAST | 34 | |
Repeati | 163 – 196 | TPR 4Add BLAST | 34 | |
Repeati | 206 – 239 | TPR 5Add BLAST | 34 | |
Repeati | 246 – 279 | TPR 6Add BLAST | 34 | |
Repeati | 286 – 319 | TPR 7Add BLAST | 34 |
Domaini
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.
Sequence similaritiesi
Belongs to the RAPsyn family.Curated
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 363 – 403 | RING-typePROSITE-ProRule annotationAdd BLAST | 41 |
Keywords - Domaini
Repeat, TPR repeat, Zinc-fingerPhylogenomic databases
eggNOGi | KOG1941, Eukaryota |
GeneTreei | ENSGT00390000016785 |
HOGENOMi | CLU_030911_0_0_1 |
InParanoidi | Q13702 |
OMAi | QGAYKIA |
OrthoDBi | 396881at2759 |
PhylomeDBi | Q13702 |
TreeFami | TF328344 |
Family and domain databases
Gene3Di | 1.25.40.10, 2 hits 3.30.40.10, 1 hit |
InterProi | View protein in InterPro IPR001237, Postsynaptic IPR018293, Postsynaptic_CS IPR019568, Rapsyn_myristoylation/link_N IPR013026, TPR-contain_dom IPR011990, TPR-like_helical_dom_sf IPR041617, TPR_MalT IPR019734, TPR_repeat IPR001841, Znf_RING IPR013083, Znf_RING/FYVE/PHD |
Pfami | View protein in Pfam PF10579, Rapsyn_N, 1 hit PF17874, TPR_MalT, 1 hit PF13639, zf-RING_2, 1 hit |
PRINTSi | PR00217, POSTSYNAPTIC |
SMARTi | View protein in SMART SM00184, RING, 1 hit SM00028, TPR, 7 hits |
SUPFAMi | SSF48452, SSF48452, 2 hits |
PROSITEi | View protein in PROSITE PS00405, 43_KD_POSTSYNAPTIC, 1 hit PS50005, TPR, 5 hits PS50293, TPR_REGION, 1 hit PS50089, ZF_RING_2, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q13702-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MGQDQTKQQI EKGLQLYQSN QTEKALQVWT KVLEKSSDLM GRFRVLGCLV
60 70 80 90 100
TAHSEMGRYK EMLKFAVVQI DTARELEDAD FLLESYLNLA RSNEKLCEFH
110 120 130 140 150
KTISYCKTCL GLPGTRAGAQ LGGQVSLSMG NAFLGLSVFQ KALESFEKAL
160 170 180 190 200
RYAHNNDDAM LECRVCCSLG SFYAQVKDYE KALFFPCKAA ELVNNYGKGW
210 220 230 240 250
SLKYRAMSQY HMAVAYRLLG RLGSAMECCE ESMKIALQHG DRPLQALCLL
260 270 280 290 300
CFADIHRSRG DLETAFPRYD SAMSIMTEIG NRLGQVQALL GVAKCWVARK
310 320 330 340 350
ALDKALDAIE RAQDLAEEVG NKLSQLKLHC LSESIYRSKG LQRELRAHVV
360 370 380 390 400
RFHECVEETE LYCGLCGESI GEKNSRLQAL PCSHIFHLRC LQNNGTRSCP
410
NCRRSSMKPG FV
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE9PJP9 | E9PJP9_HUMAN | 43 kDa receptor-associated protein ... | RAPSN | 359 | Annotation score: | ||
E9PK11 | E9PK11_HUMAN | 43 kDa receptor-associated protein ... | RAPSN | 353 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 112 | L → V in CAA83954 (PubMed:8812503).Curated | 1 | |
Sequence conflicti | 159 | A → T in CAA83954 (PubMed:8812503).Curated | 1 | |
Sequence conflicti | 205 | R → Q in CAA83954 (PubMed:8812503).Curated | 1 | |
Sequence conflicti | 364 | G → A in CAA83954 (PubMed:8812503).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_043897 | 8 | Q → K1 PublicationCorresponds to variant dbSNP:rs11556408Ensembl. | 1 | |
Natural variantiVAR_021216 | 14 | L → P in CMS11. 3 PublicationsCorresponds to variant dbSNP:rs104894300EnsemblClinVar. | 1 | |
Natural variantiVAR_043898 | 45 | V → M in CMS11; reduced coclustering with acetylcholine receptor. 1 PublicationCorresponds to variant dbSNP:rs121909254EnsemblClinVar. | 1 | |
Natural variantiVAR_062142 | 81 | F → L. Corresponds to variant dbSNP:rs57878668EnsemblClinVar. | 1 | |
Natural variantiVAR_021217 | 88 | N → K in CMS11. 7 PublicationsCorresponds to variant dbSNP:rs104894299EnsemblClinVar. | 1 | |
Natural variantiVAR_043899 | 139 | F → S in FADS2. 1 PublicationCorresponds to variant dbSNP:rs121909256EnsemblClinVar. | 1 | |
Natural variantiVAR_043900 | 162 | E → K in CMS11; reduced coclustering with acetylcholine receptor. 1 PublicationCorresponds to variant dbSNP:rs121909255EnsemblClinVar. | 1 | |
Natural variantiVAR_043901 | 164 | R → C in CMS11; reduced coclustering with acetylcholine receptor. 1 PublicationCorresponds to variant dbSNP:rs104894294EnsemblClinVar. | 1 | |
Natural variantiVAR_043902 | 189 | A → V in FADS2. 1 PublicationCorresponds to variant dbSNP:rs121909257EnsemblClinVar. | 1 | |
Natural variantiVAR_043903 | 283 | L → P in CMS11; reduced coclustering with acetylcholine receptor. 1 PublicationCorresponds to variant dbSNP:rs104894293EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_005533 | 264 – 322 | Missing in isoform 2. 1 PublicationAdd BLAST | 59 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | Z33905 mRNA Translation: CAA83954.1 AF449218 mRNA Translation: AAL86639.1 CH471064 Genomic DNA Translation: EAW67914.1 BC004196 mRNA Translation: AAH04196.1 |
CCDSi | CCDS7936.1 [Q13702-1] CCDS7937.1 [Q13702-2] |
PIRi | S45064 |
RefSeqi | NP_005046.2, NM_005055.4 [Q13702-1] NP_116034.2, NM_032645.4 [Q13702-2] |
Genome annotation databases
Ensembli | ENST00000298854; ENSP00000298854; ENSG00000165917 [Q13702-1] ENST00000352508; ENSP00000298853; ENSG00000165917 [Q13702-2] |
GeneIDi | 5913 |
KEGGi | hsa:5913 |
UCSCi | uc001nfi.2, human [Q13702-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | Z33905 mRNA Translation: CAA83954.1 AF449218 mRNA Translation: AAL86639.1 CH471064 Genomic DNA Translation: EAW67914.1 BC004196 mRNA Translation: AAH04196.1 |
CCDSi | CCDS7936.1 [Q13702-1] CCDS7937.1 [Q13702-2] |
PIRi | S45064 |
RefSeqi | NP_005046.2, NM_005055.4 [Q13702-1] NP_116034.2, NM_032645.4 [Q13702-2] |
3D structure databases
SMRi | Q13702 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 111848, 7 interactors |
IntActi | Q13702, 4 interactors |
STRINGi | 9606.ENSP00000298854 |
Chemistry databases
ChEMBLi | CHEMBL2163166 |
PTM databases
iPTMneti | Q13702 |
PhosphoSitePlusi | Q13702 |
Polymorphism and mutation databases
BioMutai | RAPSN |
DMDMi | 145559521 |
Proteomic databases
PaxDbi | Q13702 |
PeptideAtlasi | Q13702 |
PRIDEi | Q13702 |
ProteomicsDBi | 59664 [Q13702-1] 59665 [Q13702-2] |
Protocols and materials databases
Antibodypediai | 13774, 172 antibodies |
Genome annotation databases
Ensembli | ENST00000298854; ENSP00000298854; ENSG00000165917 [Q13702-1] ENST00000352508; ENSP00000298853; ENSG00000165917 [Q13702-2] |
GeneIDi | 5913 |
KEGGi | hsa:5913 |
UCSCi | uc001nfi.2, human [Q13702-1] |
Organism-specific databases
CTDi | 5913 |
DisGeNETi | 5913 |
EuPathDBi | HostDB:ENSG00000165917.9 |
GeneCardsi | RAPSN |
GeneReviewsi | RAPSN |
HGNCi | HGNC:9863, RAPSN |
HPAi | ENSG00000165917, Group enriched (skeletal muscle, tongue) |
MalaCardsi | RAPSN |
MIMi | 601592, gene 616326, phenotype 618388, phenotype |
neXtProti | NX_Q13702 |
OpenTargetsi | ENSG00000165917 |
Orphaneti | 994, Fetal akinesia deformation sequence 33108, Lethal multiple pterygium syndrome 98913, Postsynaptic congenital myasthenic syndromes |
PharmGKBi | PA34224 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1941, Eukaryota |
GeneTreei | ENSGT00390000016785 |
HOGENOMi | CLU_030911_0_0_1 |
InParanoidi | Q13702 |
OMAi | QGAYKIA |
OrthoDBi | 396881at2759 |
PhylomeDBi | Q13702 |
TreeFami | TF328344 |
Enzyme and pathway databases
PathwayCommonsi | Q13702 |
Miscellaneous databases
BioGRID-ORCSi | 5913, 6 hits in 842 CRISPR screens |
GeneWikii | RAPSN |
GenomeRNAii | 5913 |
Pharosi | Q13702, Tbio |
PROi | PR:Q13702 |
RNActi | Q13702, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000165917, Expressed in muscle of leg and 109 other tissues |
ExpressionAtlasi | Q13702, baseline and differential |
Genevisiblei | Q13702, HS |
Family and domain databases
Gene3Di | 1.25.40.10, 2 hits 3.30.40.10, 1 hit |
InterProi | View protein in InterPro IPR001237, Postsynaptic IPR018293, Postsynaptic_CS IPR019568, Rapsyn_myristoylation/link_N IPR013026, TPR-contain_dom IPR011990, TPR-like_helical_dom_sf IPR041617, TPR_MalT IPR019734, TPR_repeat IPR001841, Znf_RING IPR013083, Znf_RING/FYVE/PHD |
Pfami | View protein in Pfam PF10579, Rapsyn_N, 1 hit PF17874, TPR_MalT, 1 hit PF13639, zf-RING_2, 1 hit |
PRINTSi | PR00217, POSTSYNAPTIC |
SMARTi | View protein in SMART SM00184, RING, 1 hit SM00028, TPR, 7 hits |
SUPFAMi | SSF48452, SSF48452, 2 hits |
PROSITEi | View protein in PROSITE PS00405, 43_KD_POSTSYNAPTIC, 1 hit PS50005, TPR, 5 hits PS50293, TPR_REGION, 1 hit PS50089, ZF_RING_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | RAPSN_HUMAN | |
Accessioni | Q13702Primary (citable) accession number: Q13702 Secondary accession number(s): Q8TDF3, Q9BTD9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1997 |
Last sequence update: | April 17, 2007 | |
Last modified: | December 2, 2020 | |
This is version 200 of the entry and version 4 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations