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Q13702

- RAPSN_HUMAN

UniProt

Q13702 - RAPSN_HUMAN

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Protein

43 kDa receptor-associated protein of the synapse

Gene
RAPSN, RNF205
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - 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)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri363 – 40341RING-typeAdd
BLAST

GO - Molecular functioni

  1. acetylcholine receptor binding Source: MGI
  2. zinc ion binding Source: InterPro

GO - Biological processi

  1. positive regulation of neuron apoptotic process Source: Ensembl
  2. synaptic transmission Source: ProtInc
  3. synaptic transmission, cholinergic Source: MGI
Complete GO annotation...

Keywords - Ligandi

Metal-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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:9863. RAPSN.

Subcellular locationi

GO - Cellular componenti

  1. cell junction Source: UniProtKB-KW
  2. cytoskeleton Source: UniProtKB-SubCell
  3. Golgi apparatus Source: Ensembl
  4. neuromuscular junction Source: Ensembl
  5. postsynaptic membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

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

Pathology & Biotechi

Involvement in diseasei

Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931]: A post-synaptic congenital myasthenic syndrome. Congenital myasthenic syndromes (CMS) are inherited disorders of neuromuscular transmission that stem from mutations in presynaptic, synaptic, or postsynaptic proteins.
Note: The disease is caused by mutations affecting the gene represented in this entry.9 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti14 – 141L → P in CMS-ACHRD. 3 Publications
VAR_021216
Natural varianti45 – 451V → M in CMS-ACHRD; reduced coclustering with acetylcholine receptor. 1 Publication
VAR_043898
Natural varianti88 – 881N → K in CMS-ACHRD. 7 Publications
Corresponds to variant rs104894299 [ dbSNP | Ensembl ].
VAR_021217
Natural varianti162 – 1621E → K in CMS-ACHRD; reduced coclustering with acetylcholine receptor. 1 Publication
VAR_043900
Natural varianti164 – 1641R → C in CMS-ACHRD; reduced coclustering with acetylcholine receptor. 1 Publication
VAR_043901
Natural varianti283 – 2831L → P in CMS-ACHRD; reduced coclustering with acetylcholine receptor. 1 Publication
VAR_043903
Fetal akinesia deformation sequence (FADS) [MIM:208150]: Rare condition characterized by decreased intrauterine fetal movement, congenital limb contractures, pulmonary hypoplasia, polyhydramnios and craniofacial abnormalities.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti139 – 1391F → S in FADS. 1 Publication
VAR_043899
Natural varianti189 – 1891A → V in FADS. 1 Publication
VAR_043902

Keywords - Diseasei

Congenital myasthenic syndrome, Disease mutation

Organism-specific databases

MIMi208150. phenotype.
608931. phenotype.
Orphaneti994. Fetal akinesia deformation sequence.
33108. Lethal multiple pterygium syndrome.
98913. Postsynaptic congenital myasthenic syndromes.
PharmGKBiPA34224.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed By similarity
Chaini2 – 41241143 kDa receptor-associated protein of the synapsePRO_0000167591Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Lipidationi2 – 21N-myristoyl glycine By similarity
Modified residuei196 – 1961Phosphotyrosine Reviewed prediction
Modified residuei405 – 4051Phosphoserine Reviewed prediction

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.
PRIDEiQ13702.

PTM databases

PhosphoSiteiQ13702.

Expressioni

Gene expression databases

ArrayExpressiQ13702.
BgeeiQ13702.
CleanExiHS_RAPSN.
GenevestigatoriQ13702.

Organism-specific databases

HPAiHPA039475.

Interactioni

Protein-protein interaction databases

BioGridi111848. 5 interactions.
IntActiQ13702. 2 interactions.
STRINGi9606.ENSP00000298854.

Structurei

3D structure databases

ProteinModelPortaliQ13702.
SMRiQ13702. Positions 4-326.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati6 – 3934TPR 1Add
BLAST
Repeati83 – 11634TPR 2Add
BLAST
Repeati123 – 15634TPR 3Add
BLAST
Repeati163 – 19634TPR 4Add
BLAST
Repeati206 – 23934TPR 5Add
BLAST
Repeati246 – 27934TPR 6Add
BLAST
Repeati286 – 31934TPR 7Add
BLAST

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.
Contains 7 TPR repeats.

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri363 – 40341RING-typeAdd
BLAST

Keywords - Domaini

Repeat, TPR repeat, Zinc-finger

Phylogenomic databases

eggNOGiCOG0457.
HOGENOMiHOG000231395.
HOVERGENiHBG061484.
InParanoidiQ13702.
OMAiEEMELYC.
PhylomeDBiQ13702.
TreeFamiTF328344.

Family and domain databases

Gene3Di1.25.40.10. 2 hits.
3.30.40.10. 1 hit.
InterProiIPR001237. Postsynaptic.
IPR018293. Postsynaptic_CS.
IPR019568. Rapsyn_myristoylation/link_N.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical.
IPR001440. TPR_1.
IPR019734. TPR_repeat.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]
PfamiPF10579. Rapsyn_N. 1 hit.
PF00515. TPR_1. 1 hit.
PF13181. TPR_8. 1 hit.
PF13639. zf-RING_2. 1 hit.
[Graphical view]
PRINTSiPR00217. POSTSYNAPTIC.
SMARTiSM00184. RING. 1 hit.
SM00028. TPR. 6 hits.
[Graphical view]
PROSITEiPS00405. 43_KD_POSTSYNAPTIC. 1 hit.
PS50005. TPR. 5 hits.
PS50293. TPR_REGION. 1 hit.
PS50089. ZF_RING_2. 1 hit.
[Graphical view]

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. Align

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

MGQDQTKQQI EKGLQLYQSN QTEKALQVWT KVLEKSSDLM GRFRVLGCLV    50
TAHSEMGRYK EMLKFAVVQI DTARELEDAD FLLESYLNLA RSNEKLCEFH 100
KTISYCKTCL GLPGTRAGAQ LGGQVSLSMG NAFLGLSVFQ KALESFEKAL 150
RYAHNNDDAM LECRVCCSLG SFYAQVKDYE KALFFPCKAA ELVNNYGKGW 200
SLKYRAMSQY HMAVAYRLLG RLGSAMECCE ESMKIALQHG DRPLQALCLL 250
CFADIHRSRG DLETAFPRYD SAMSIMTEIG NRLGQVQALL GVAKCWVARK 300
ALDKALDAIE RAQDLAEEVG NKLSQLKLHC LSESIYRSKG LQRELRAHVV 350
RFHECVEETE LYCGLCGESI GEKNSRLQAL PCSHIFHLRC LQNNGTRSCP 400
NCRRSSMKPG FV 412
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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti8 – 81Q → K.1 Publication
Corresponds to variant rs11556408 [ dbSNP | Ensembl ].
VAR_043897
Natural varianti14 – 141L → P in CMS-ACHRD. 3 Publications
VAR_021216
Natural varianti45 – 451V → M in CMS-ACHRD; reduced coclustering with acetylcholine receptor. 1 Publication
VAR_043898
Natural varianti81 – 811F → L.
Corresponds to variant rs57878668 [ dbSNP | Ensembl ].
VAR_062142
Natural varianti88 – 881N → K in CMS-ACHRD. 7 Publications
Corresponds to variant rs104894299 [ dbSNP | Ensembl ].
VAR_021217
Natural varianti139 – 1391F → S in FADS. 1 Publication
VAR_043899
Natural varianti162 – 1621E → K in CMS-ACHRD; reduced coclustering with acetylcholine receptor. 1 Publication
VAR_043900
Natural varianti164 – 1641R → C in CMS-ACHRD; reduced coclustering with acetylcholine receptor. 1 Publication
VAR_043901
Natural varianti189 – 1891A → V in FADS. 1 Publication
VAR_043902
Natural varianti283 – 2831L → P in CMS-ACHRD; reduced coclustering with acetylcholine receptor. 1 Publication
VAR_043903

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei264 – 32259Missing in isoform 2. VSP_005533Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti112 – 1121L → V in CAA83954. 1 Publication
Sequence conflicti159 – 1591A → T in CAA83954. 1 Publication
Sequence conflicti205 – 2051R → Q in CAA83954. 1 Publication
Sequence conflicti364 – 3641G → A in CAA83954. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
uc001nfj.2. human. [Q13702-2]

Polymorphism databases

DMDMi145559521.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 ]
UniGenei Hs.81218.

3D structure databases

ProteinModelPortali Q13702.
SMRi Q13702. Positions 4-326.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 111848. 5 interactions.
IntActi Q13702. 2 interactions.
STRINGi 9606.ENSP00000298854.

Chemistry

ChEMBLi CHEMBL2163166.

PTM databases

PhosphoSitei Q13702.

Polymorphism databases

DMDMi 145559521.

Proteomic databases

PaxDbi Q13702.
PRIDEi Q13702.

Protocols and materials databases

Structural Biology Knowledgebase Search...

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 ]
uc001nfj.2. human. [Q13702-2 ]

Organism-specific databases

CTDi 5913.
GeneCardsi GC11M047459.
GeneReviewsi RAPSN.
HGNCi HGNC:9863. RAPSN.
HPAi HPA039475.
MIMi 208150. phenotype.
601592. gene.
608931. phenotype.
neXtProti NX_Q13702.
Orphaneti 994. Fetal akinesia deformation sequence.
33108. Lethal multiple pterygium syndrome.
98913. Postsynaptic congenital myasthenic syndromes.
PharmGKBi PA34224.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0457.
HOGENOMi HOG000231395.
HOVERGENi HBG061484.
InParanoidi Q13702.
OMAi EEMELYC.
PhylomeDBi Q13702.
TreeFami TF328344.

Miscellaneous databases

GeneWikii RAPSN.
GenomeRNAii 5913.
NextBioi 23012.
PROi Q13702.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q13702.
Bgeei Q13702.
CleanExi HS_RAPSN.
Genevestigatori Q13702.

Family and domain databases

Gene3Di 1.25.40.10. 2 hits.
3.30.40.10. 1 hit.
InterProi IPR001237. Postsynaptic.
IPR018293. Postsynaptic_CS.
IPR019568. Rapsyn_myristoylation/link_N.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical.
IPR001440. TPR_1.
IPR019734. TPR_repeat.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view ]
Pfami PF10579. Rapsyn_N. 1 hit.
PF00515. TPR_1. 1 hit.
PF13181. TPR_8. 1 hit.
PF13639. zf-RING_2. 1 hit.
[Graphical view ]
PRINTSi PR00217. POSTSYNAPTIC.
SMARTi SM00184. RING. 1 hit.
SM00028. TPR. 6 hits.
[Graphical view ]
PROSITEi PS00405. 43_KD_POSTSYNAPTIC. 1 hit.
PS50005. TPR. 5 hits.
PS50293. TPR_REGION. 1 hit.
PS50089. ZF_RING_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning of cDNA encoding human rapsyn and mapping of the RAPSN gene locus to chromosome 11p11.2-p11.1."
    Buckel A., Beeson D., James M., Vincent A.
    Genomics 35:613-616(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Muscle.
  2. "Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome."
    Ohno K., Engel A.G., Shen X.-M., Selcen D., Brengman J., Harper C.M., Tsujino A., Milone M.
    Am. J. Hum. Genet. 70:875-885(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS CMS-ACHRD PRO-14 AND LYS-88.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT LYS-8.
    Tissue: Muscle.
  5. "Control of rapsyn stability by the CUL-3-containing E3 ligase complex."
    Nam S., Min K., Hwang H., Lee H.O., Lee J.H., Yoon J., Lee H., Park S., Lee J.
    J. Biol. Chem. 284:8195-8206(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: UBIQUITINATION BY THE BCR(KLHL8) COMPLEX.
  6. "Identification of pathogenic mutations in the human rapsyn gene."
    Dunne V., Maselli R.A.
    J. Hum. Genet. 48:204-207(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CMS-ACHRD PRO-14 AND LYS-88.
  7. "Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering."
    Maselli R.A., Dunne V., Pascual-Pascual S.I., Bowe C., Agius M., Frank R., Wollmann R.L.
    Muscle Nerve 28:293-301(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CMS-ACHRD PRO-14 AND LYS-88.
  8. Cited for: VARIANT CMS-ACHRD LYS-88.
  9. "Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes."
    Burke G., Cossins J., Maxwell S., Owens G., Vincent A., Robb S., Nicolle M., Hilton-Jones D., Newsom-Davis J., Palace J., Beeson D.
    Neurology 61:826-828(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CMS-ACHRD LYS-88.
  10. "Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine."
    Banwell B.L., Ohno K., Sieb J.P., Engel A.G.
    Neuromuscul. Disord. 14:202-207(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CMS-ACHRD LYS-88.
  11. "Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms."
    Ioos C., Barois A., Richard P., Eymard B., Hantai D., Estournet-Mathiaud B.
    Neuropediatrics 35:246-249(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CMS-ACHRD LYS-88.
  12. "Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations."
    Mueller J.S., Baumeister S.K., Rasic V.M., Krause S., Todorovic S., Kugler K., Mueller-Felber W., Abicht A., Lochmueller H.
    Neurology 67:1159-1164(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CMS-ACHRD CYS-164 AND PRO-283, CHARACTERIZATION OF VARIANTS CMS-ACHRD CYS-164 AND PRO-283.
  13. "Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations."
    Maselli R.A., Dris H., Schnier J., Cockrell J.L., Wollmann R.L.
    Clin. Genet. 72:63-65(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CMS-ACHRD MET-45 AND LYS-162, CHARACTERIZATION OF VARIANTS CMS-ACHRD MET-45 AND LYS-162.
  14. "Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients."
    Vogt J., Harrison B.J., Spearman H., Cossins J., Vermeer S., ten Cate L.N., Morgan N.V., Beeson D., Maher E.R.
    Am. J. Hum. Genet. 82:222-227(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN FADS.
  15. Cited for: VARIANTS FADS SER-139 AND VAL-189.

Entry informationi

Entry nameiRAPSN_HUMAN
AccessioniPrimary (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: July 9, 2014
This is version 151 of the entry and version 4 of the sequence. [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

External Data

Dasty 3

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