Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - Q13702 (RAPSN_HUMAN)

(max 400 entries)x

Your basket is currently empty. i

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

43 kDa receptor-associated protein of the synapse

Gene

RAPSN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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 keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri363 – 403RING-typePROSITE-ProRule annotationAdd BLAST41

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

LigandMetal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
43 kDa receptor-associated protein of the synapse
Short 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000165917.9
HGNCiHGNC:9863 RAPSN
MIMi601592 gene
neXtProtiNX_Q13702

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cell membrane, Cytoplasm, Cytoskeleton, Membrane, Postsynaptic cell membrane, Synapse

Pathology & 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.
See also OMIM:616326
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02121614L → P in CMS11. 3 PublicationsCorresponds to variant dbSNP:rs104894300EnsemblClinVar.1
Natural variantiVAR_04389845V → M in CMS11; reduced coclustering with acetylcholine receptor. 1 PublicationCorresponds to variant dbSNP:rs121909254EnsemblClinVar.1
Natural variantiVAR_02121788N → K in CMS11. 7 PublicationsCorresponds to variant dbSNP:rs104894299EnsemblClinVar.1
Natural variantiVAR_043900162E → K in CMS11; reduced coclustering with acetylcholine receptor. 1 PublicationCorresponds to variant dbSNP:rs121909255EnsemblClinVar.1
Natural variantiVAR_043901164R → C in CMS11; reduced coclustering with acetylcholine receptor. 1 PublicationCorresponds to variant dbSNP:rs104894294EnsemblClinVar.1
Natural variantiVAR_043903283L → P in CMS11; reduced coclustering with acetylcholine receptor. 1 PublicationCorresponds to variant dbSNP:rs104894293EnsemblClinVar.1
Fetal akinesia deformation sequence (FADS)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.
See also OMIM:208150
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_043899139F → S in FADS. 1 PublicationCorresponds to variant dbSNP:rs121909256EnsemblClinVar.1
Natural variantiVAR_043902189A → V in FADS. 1 PublicationCorresponds to variant dbSNP:rs121909257EnsemblClinVar.1

Keywords - Diseasei

Congenital myasthenic syndrome, Disease mutation

Organism-specific databases

DisGeNETi5913
GeneReviewsiRAPSN
MalaCardsiRAPSN
MIMi208150 phenotype
616326 phenotype
OpenTargetsiENSG00000165917
Orphaneti994 Fetal akinesia deformation sequence
33108 Lethal multiple pterygium syndrome
98913 Postsynaptic congenital myasthenic syndromes
PharmGKBiPA34224

Chemistry databases

ChEMBLiCHEMBL2163166

Polymorphism and mutation databases

BioMutaiRAPSN
DMDMi145559521

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved
ChainiPRO_00001675912 – 41243 kDa receptor-associated protein of the synapseAdd BLAST411

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Lipidationi2N-myristoyl glycineBy similarity1
Modified residuei196PhosphotyrosineSequence analysis1
Modified residuei405PhosphoserineSequence analysis1

Post-translational modificationi

Ubiquitinated by the BCR(KLHL8) complex, leading to its degradation.1 Publication

Keywords - PTMi

Lipoprotein, Myristate, Phosphoprotein, Ubl conjugation

Proteomic databases

PaxDbiQ13702
PeptideAtlasiQ13702
PRIDEiQ13702
ProteomicsDBi59664
59665 [Q13702-2]

PTM databases

iPTMnetiQ13702
PhosphoSitePlusiQ13702

Expressioni

Gene expression databases

BgeeiENSG00000165917
CleanExiHS_RAPSN
ExpressionAtlasiQ13702 baseline and differential
GenevisibleiQ13702 HS

Organism-specific databases

HPAiHPA039475

Interactioni

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi111848, 7 interactors
IntActiQ13702, 2 interactors
STRINGi9606.ENSP00000298854

Structurei

3D structure databases

ProteinModelPortaliQ13702
SMRiQ13702
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati6 – 39TPR 1Add BLAST34
Repeati83 – 116TPR 2Add BLAST34
Repeati123 – 156TPR 3Add BLAST34
Repeati163 – 196TPR 4Add BLAST34
Repeati206 – 239TPR 5Add BLAST34
Repeati246 – 279TPR 6Add BLAST34
Repeati286 – 319TPR 7Add BLAST34

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 keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri363 – 403RING-typePROSITE-ProRule annotationAdd BLAST41

Keywords - Domaini

Repeat, TPR repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1941 Eukaryota
ENOG41103HX LUCA
GeneTreeiENSGT00390000016785
HOGENOMiHOG000231395
HOVERGENiHBG061484
InParanoidiQ13702
OMAiAHNNDDK
OrthoDBiEOG091G03VV
PhylomeDBiQ13702
TreeFamiTF328344

Family and domain databases

Gene3Di1.25.40.10, 2 hits
3.30.40.10, 1 hit
InterProiView protein in InterPro
IPR001237 Postsynaptic
IPR018293 Postsynaptic_CS
IPR019568 Rapsyn_myristoylation/link_N
IPR013026 TPR-contain_dom
IPR011990 TPR-like_helical_dom_sf
IPR019734 TPR_repeat
IPR001841 Znf_RING
IPR013083 Znf_RING/FYVE/PHD
PfamiView protein in Pfam
PF10579 Rapsyn_N, 1 hit
PF13639 zf-RING_2, 1 hit
PRINTSiPR00217 POSTSYNAPTIC
SMARTiView protein in SMART
SM00184 RING, 1 hit
SM00028 TPR, 7 hits
SUPFAMiSSF48452 SSF48452, 3 hits
PROSITEiView protein in PROSITE
PS00405 43_KD_POSTSYNAPTIC, 1 hit
PS50005 TPR, 5 hits
PS50293 TPR_REGION, 1 hit
PS50089 ZF_RING_2, 1 hit

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q13702-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:412
Mass (Da):46,328
Last modified:April 17, 2007 - v4
Checksum:iD17AC566700F5AAF
GO
Isoform 2 (identifier: Q13702-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     264-322: Missing.

Note: No experimental confirmation available.
Show »
Length:353
Mass (Da):39,912
Checksum:i79A95D25A1FAA69A
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti112L → V in CAA83954 (PubMed:8812503).Curated1
Sequence conflicti159A → T in CAA83954 (PubMed:8812503).Curated1
Sequence conflicti205R → Q in CAA83954 (PubMed:8812503).Curated1
Sequence conflicti364G → A in CAA83954 (PubMed:8812503).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0438978Q → K1 PublicationCorresponds to variant dbSNP:rs11556408Ensembl.1
Natural variantiVAR_02121614L → P in CMS11. 3 PublicationsCorresponds to variant dbSNP:rs104894300EnsemblClinVar.1
Natural variantiVAR_04389845V → M in CMS11; reduced coclustering with acetylcholine receptor. 1 PublicationCorresponds to variant dbSNP:rs121909254EnsemblClinVar.1
Natural variantiVAR_06214281F → L. Corresponds to variant dbSNP:rs57878668EnsemblClinVar.1
Natural variantiVAR_02121788N → K in CMS11. 7 PublicationsCorresponds to variant dbSNP:rs104894299EnsemblClinVar.1
Natural variantiVAR_043899139F → S in FADS. 1 PublicationCorresponds to variant dbSNP:rs121909256EnsemblClinVar.1
Natural variantiVAR_043900162E → K in CMS11; reduced coclustering with acetylcholine receptor. 1 PublicationCorresponds to variant dbSNP:rs121909255EnsemblClinVar.1
Natural variantiVAR_043901164R → C in CMS11; reduced coclustering with acetylcholine receptor. 1 PublicationCorresponds to variant dbSNP:rs104894294EnsemblClinVar.1
Natural variantiVAR_043902189A → V in FADS. 1 PublicationCorresponds to variant dbSNP:rs121909257EnsemblClinVar.1
Natural variantiVAR_043903283L → P in CMS11; reduced coclustering with acetylcholine receptor. 1 PublicationCorresponds to variant dbSNP:rs104894293EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_005533264 – 322Missing in isoform 2. 1 PublicationAdd BLAST59

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
CCDSiCCDS7936.1 [Q13702-1]
CCDS7937.1 [Q13702-2]
PIRiS45064
RefSeqiNP_005046.2, NM_005055.4 [Q13702-1]
NP_116034.2, NM_032645.4 [Q13702-2]
UniGeneiHs.81218

Genome annotation databases

EnsembliENST00000298854; ENSP00000298854; ENSG00000165917 [Q13702-1]
ENST00000352508; ENSP00000298853; ENSG00000165917 [Q13702-2]
GeneIDi5913
KEGGihsa:5913
UCSCiuc001nfi.2 human [Q13702-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiRAPSN_HUMAN
AccessioniPrimary (citable) accession number: Q13702
Secondary accession number(s): Q8TDF3, Q9BTD9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: April 17, 2007
Last modified: June 20, 2018
This is version 184 of the entry and version 4 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health