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Protein

43 kDa receptor-associated protein of the synapse

Gene

RAPSN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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
<p>This subsection of the ‘Function’ section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri363 – 403RING-typePROSITE-ProRule annotationAdd BLAST41

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

LigandMetal-binding, Zinc

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:RAPSN
Synonyms:RNF205
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000165917.9

Human Gene Nomenclature Database

More...
HGNCi
HGNC:9863 RAPSN

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
601592 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q13702

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
5913

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
RAPSN

MalaCards human disease database

More...
MalaCardsi
RAPSN
MIMi208150 phenotype
616326 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000165917

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
994 Fetal akinesia deformation sequence
33108 Lethal multiple pterygium syndrome
98913 Postsynaptic congenital myasthenic syndromes

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA34224

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2163166

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
RAPSN

Domain mapping of disease mutations (DMDM)

More...
DMDMi
145559521

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001675912 – 41243 kDa receptor-associated protein of the synapseAdd BLAST411

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi2N-myristoyl glycineBy similarity1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei196PhosphotyrosineSequence analysis1
Modified residuei405PhosphoserineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

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

Keywords - PTMi

Lipoprotein, Myristate, Phosphoprotein, Ubl conjugation

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q13702

PeptideAtlas

More...
PeptideAtlasi
Q13702

PRoteomics IDEntifications database

More...
PRIDEi
Q13702

ProteomicsDB human proteome resource

More...
ProteomicsDBi
59664
59665 [Q13702-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q13702

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q13702

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000165917 Expressed in 87 organ(s), highest expression level in muscle of leg

CleanEx database of gene expression profiles

More...
CleanExi
HS_RAPSN

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q13702 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q13702 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA039475

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
111848, 7 interactors

Protein interaction database and analysis system

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IntActi
Q13702, 3 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000298854

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q13702

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q13702

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>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

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>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.

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1941 Eukaryota
ENOG41103HX LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000016785

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231395

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG061484

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q13702

Identification of Orthologs from Complete Genome Data

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OMAi
QGAYKIA

Database of Orthologous Groups

More...
OrthoDBi
EOG091G03VV

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q13702

TreeFam database of animal gene trees

More...
TreeFami
TF328344

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.25.40.10, 2 hits
3.30.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
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
IPR019734 TPR_repeat
IPR001841 Znf_RING
IPR013083 Znf_RING/FYVE/PHD

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF10579 Rapsyn_N, 1 hit
PF13639 zf-RING_2, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00217 POSTSYNAPTIC

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00184 RING, 1 hit
SM00028 TPR, 7 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48452 SSF48452, 2 hits

PROSITE; a protein domain and family database

More...
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

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This 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 '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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PJP9E9PJP9_HUMAN
43 kDa receptor-associated protein ...
RAPSN
359Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PK11E9PK11_HUMAN
43 kDa receptor-associated protein ...
RAPSN
353Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_005533264 – 322Missing in isoform 2. 1 PublicationAdd BLAST59

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
Z33905 mRNA Translation: CAA83954.1
AF449218 mRNA Translation: AAL86639.1
CH471064 Genomic DNA Translation: EAW67914.1
BC004196 mRNA Translation: AAH04196.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS7936.1 [Q13702-1]
CCDS7937.1 [Q13702-2]

Protein sequence database of the Protein Information Resource

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PIRi
S45064

NCBI Reference Sequences

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RefSeqi
NP_005046.2, NM_005055.4 [Q13702-1]
NP_116034.2, NM_032645.4 [Q13702-2]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.81218

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000298854; ENSP00000298854; ENSG00000165917 [Q13702-1]
ENST00000352508; ENSP00000298853; ENSG00000165917 [Q13702-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
5913

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:5913

UCSC genome browser

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UCSCi
uc001nfi.2 human [Q13702-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
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

3D structure databases

ProteinModelPortaliQ13702
SMRiQ13702
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111848, 7 interactors
IntActiQ13702, 3 interactors
STRINGi9606.ENSP00000298854

Chemistry databases

ChEMBLiCHEMBL2163166

PTM databases

iPTMnetiQ13702
PhosphoSitePlusiQ13702

Polymorphism and mutation databases

BioMutaiRAPSN
DMDMi145559521

Proteomic databases

PaxDbiQ13702
PeptideAtlasiQ13702
PRIDEiQ13702
ProteomicsDBi59664
59665 [Q13702-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
5913
DisGeNETi5913
EuPathDBiHostDB:ENSG00000165917.9

GeneCards: human genes, protein and diseases

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GeneCardsi
RAPSN
GeneReviewsiRAPSN
HGNCiHGNC:9863 RAPSN
HPAiHPA039475
MalaCardsiRAPSN
MIMi208150 phenotype
601592 gene
616326 phenotype
neXtProtiNX_Q13702
OpenTargetsiENSG00000165917
Orphaneti994 Fetal akinesia deformation sequence
33108 Lethal multiple pterygium syndrome
98913 Postsynaptic congenital myasthenic syndromes
PharmGKBiPA34224

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

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

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
RAPSN

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
5913

Protein Ontology

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PROi
PR:Q13702

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000165917 Expressed in 87 organ(s), highest expression level in muscle of leg
CleanExiHS_RAPSN
ExpressionAtlasiQ13702 baseline and differential
GenevisibleiQ13702 HS

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, 2 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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiRAPSN_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q13702
Secondary accession number(s): Q8TDF3, Q9BTD9
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: April 17, 2007
Last modified: December 5, 2018
This is version 187 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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