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Entry version 179 (08 May 2019)
Sequence version 2 (01 Nov 1995)
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Protein

Acetylcholine receptor subunit epsilon

Gene

CHRNE

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

After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.1 Publication

<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

Molecular functionIon channel, Ligand-gated ion channel, Receptor
Biological processIon transport, Transport

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-629587 Highly sodium permeable acetylcholine nicotinic receptors

Protein family/group databases

Transport Classification Database

More...
TCDBi
1.A.9.1.1 the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family

<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:
Acetylcholine receptor subunit epsilon
<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:CHRNE
Synonyms:ACHRE
<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 17

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:1966 CHRNE

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
100725 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q04844

<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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini21 – 239ExtracellularSequence analysisAdd BLAST219
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei240 – 264HelicalSequence analysisAdd BLAST25
Topological domaini265 – 272CytoplasmicSequence analysis8
Transmembranei273 – 291HelicalSequence analysisAdd BLAST19
Topological domaini292 – 306ExtracellularSequence analysisAdd BLAST15
Transmembranei307 – 328HelicalSequence analysisAdd BLAST22
Topological domaini329 – 456CytoplasmicSequence analysisAdd BLAST128
Transmembranei457 – 480HelicalSequence analysisAdd BLAST24
Topological domaini481 – 493ExtracellularSequence analysisAdd BLAST13

Keywords - Cellular componenti

Cell junction, Cell membrane, 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

The muscle AChR is the major target antigen in the autoimmune disease myasthenia gravis. Myasthenia gravis is characterized by sporadic muscular fatigability and weakness, occurring chiefly in muscles innervated by cranial nerves, and characteristically improved by cholinesterase-inhibiting drugs.
Myasthenic syndrome, congenital, 4A, slow-channel (CMS4A)5 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. CMS4A is a slow-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in prolonged AChR channel opening episodes, prolonged endplate currents, and depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane.
Related information in OMIM
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_01956798L → P in CMS4A; rare example of recessive inheritance. 1 PublicationCorresponds to variant dbSNP:rs28929768EnsemblClinVar.1
Natural variantiVAR_019568241L → F in CMS4A; mild form with variable penetrance. 1 PublicationCorresponds to variant dbSNP:rs28999110EnsemblClinVar.1
Natural variantiVAR_000292284T → P in CMS4A; markedly prolonged channel openings in presence of agonist; as well as opening in the absence of agonist. 1 PublicationCorresponds to variant dbSNP:rs121909510EnsemblClinVar.1
Natural variantiVAR_077364285V → A in CMS4A; slow-channel mutation; increases gating equilibrium constant by 25-fold, owing to increased opening rate and decreased closing rate; no effect on the choline dissociation rate constant. 1 Publication1
Natural variantiVAR_000293289L → F in CMS4A; slows rate of AChR channel closure and increases apparent affinity for ACh; causes pathologic channel openings even in the absence of ACh resulting in a leaky channel. 2 PublicationsCorresponds to variant dbSNP:rs121909511EnsemblClinVar.1
Myasthenic syndrome, congenital, 4B, fast-channel (CMS4B)3 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. CMS4B is a fast-channel myasthenic syndrome. It is caused by kinetic abnormalities of the AChR, resulting in brief opening and activity of the channel, with a rapid decay in endplate current, failure to achieve threshold depolarization of the endplate and consequent failure to fire an action potential.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02121313G → R in CMS4B; impaired association with alpha CHRNA1 subunit of AChR. 1 PublicationCorresponds to variant dbSNP:rs372635387EnsemblClinVar.1
Natural variantiVAR_07162975W → R in CMS4B; strongly reduces agonist affinity and gating efficiency. 1 PublicationCorresponds to variant dbSNP:rs193919341EnsemblClinVar.1
Natural variantiVAR_000289141P → L in CMS4B; marked decrease in rate of AChR channel opening; reduction in frequency of open channel state and resistance to desensitization by ACh. 1 PublicationCorresponds to variant dbSNP:rs121909512EnsemblClinVar.1
Natural variantiVAR_021214163S → L in CMS4B; fails to assemble with alpha CHRNA1 subunit of AChR. 1 PublicationCorresponds to variant dbSNP:rs121909516EnsemblClinVar.1
Natural variantiVAR_021215431A → P in CMS4B; causes an increase in distributions of rates for channel opening and closing increasing the range of activation kinetics. 1 PublicationCorresponds to variant dbSNP:rs121909517EnsemblClinVar.1
Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency (CMS4C)1 Publication
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. CMS4C 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 OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_000290167R → L in CMS4C; significantly reduced AChR expression. 1 PublicationCorresponds to variant dbSNP:rs121909514EnsemblClinVar.1
Natural variantiVAR_000291265P → L in CMS4C; prolongs burst open duration 2-fold by slowing the rate of channel closing. 1 PublicationCorresponds to variant dbSNP:rs759226183EnsemblClinVar.1
Natural variantiVAR_000294331R → W in CMS4C; shortens burst duration 2-fold by slowing the rate of channel opening and speeding the rate of ACh dissociation; has a mild fast-channel kinetic effect on the AChR by shortening the long burst and increasing the decay of the endplate current. 1 PublicationCorresponds to variant dbSNP:rs121909515EnsemblClinVar.1

Keywords - Diseasei

Congenital myasthenic syndrome, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
1145

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

More...
GeneReviewsi
CHRNE

MalaCards human disease database

More...
MalaCardsi
CHRNE
MIMi254200 phenotype
605809 phenotype
608931 phenotype
616324 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000108556

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

More...
Orphaneti
98913 Postsynaptic congenital myasthenic syndromes

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26498

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2484

Drug and drug target database

More...
DrugBanki
DB00674 Galantamine

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
CHRNE

Domain mapping of disease mutations (DMDM)

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DMDMi
1168301

<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 ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 20Add BLAST20
<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_000000032921 – 493Acetylcholine receptor subunit epsilonAdd BLAST473

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 and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi86N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi148 ↔ 162By similarity
Glycosylationi161N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q04844

MaxQB - The MaxQuant DataBase

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MaxQBi
Q04844

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

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PaxDbi
Q04844

PeptideAtlas

More...
PeptideAtlasi
Q04844

PRoteomics IDEntifications database

More...
PRIDEi
Q04844

ProteomicsDB human proteome resource

More...
ProteomicsDBi
58287

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q04844

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

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PhosphoSitePlusi
Q04844

<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

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Bgeei
ENSG00000108556 Expressed in 83 organ(s), highest expression level in adenohypophysis

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q04844 HS

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in mature muscle) chains. The muscle heteropentamer composed of alpha-1, beta-1, delta, epsilon subunits interacts with the alpha-conotoxin ImII (PubMed:15609996).

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
107567, 2 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-255 Muscle-type nicotinic acetylcholine receptor complex, alpha1-beta1-delta-epsilon

STRING: functional protein association networks

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STRINGi
9606.ENSP00000293780

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q04844

<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

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

<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

<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

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3645 Eukaryota
ENOG410XQGR LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000160933

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000006757

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q04844

KEGG Orthology (KO)

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KOi
K04817

Identification of Orthologs from Complete Genome Data

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OMAi
DFCPGVI

Database of Orthologous Groups

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OrthoDBi
588360at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q04844

TreeFam database of animal gene trees

More...
TreeFami
TF315605

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.70.170.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR006202 Neur_chan_lig-bd
IPR036734 Neur_chan_lig-bd_sf
IPR006201 Neur_channel
IPR036719 Neuro-gated_channel_TM_sf
IPR006029 Neurotrans-gated_channel_TM
IPR018000 Neurotransmitter_ion_chnl_CS
IPR002394 Nicotinic_acetylcholine_rcpt

The PANTHER Classification System

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PANTHERi
PTHR18945 PTHR18945, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF02931 Neur_chan_LBD, 1 hit
PF02932 Neur_chan_memb, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00254 NICOTINICR
PR00252 NRIONCHANNEL

Superfamily database of structural and functional annotation

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SUPFAMi
SSF63712 SSF63712, 1 hit
SSF90112 SSF90112, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00236 NEUROTR_ION_CHANNEL, 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>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)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 has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q04844-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MARAPLGVLL LLGLLGRGVG KNEELRLYHH LFNNYDPGSR PVREPEDTVT
60 70 80 90 100
ISLKVTLTNL ISLNEKEETL TTSVWIGIDW QDYRLNYSKD DFGGIETLRV
110 120 130 140 150
PSELVWLPEI VLENNIDGQF GVAYDANVLV YEGGSVTWLP PAIYRSVCAV
160 170 180 190 200
EVTYFPFDWQ NCSLIFRSQT YNAEEVEFTF AVDNDGKTIN KIDIDTEAYT
210 220 230 240 250
ENGEWAIDFC PGVIRRHHGG ATDGPGETDV IYSLIIRRKP LFYVINIIVP
260 270 280 290 300
CVLISGLVLL AYFLPAQAGG QKCTVSINVL LAQTVFLFLI AQKIPETSLS
310 320 330 340 350
VPLLGRFLIF VMVVATLIVM NCVIVLNVSQ RTPTTHAMSP RLRHVLLELL
360 370 380 390 400
PRLLGSPPPP EAPRAASPPR RASSVGLLLR AEELILKKPR SELVFEGQRH
410 420 430 440 450
RQGTWTAAFC QSLGAAAPEV RCCVDAVNFV AESTRDQEAT GEEVSDWVRM
460 470 480 490
GNALDNICFW AALVLFSVGS SLIFLGAYFN RVPDLPYAPC IQP
Length:493
Mass (Da):54,697
Last modified:November 1, 1995 - v2
<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:iA34AF273AF8B31FE
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A3B3IRM1A0A3B3IRM1_HUMAN
Acetylcholine receptor subunit epsi...
CHRNE
179Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02121313G → R in CMS4B; impaired association with alpha CHRNA1 subunit of AChR. 1 PublicationCorresponds to variant dbSNP:rs372635387EnsemblClinVar.1
Natural variantiVAR_04817018G → V. Corresponds to variant dbSNP:rs4790235EnsemblClinVar.1
Natural variantiVAR_07162975W → R in CMS4B; strongly reduces agonist affinity and gating efficiency. 1 PublicationCorresponds to variant dbSNP:rs193919341EnsemblClinVar.1
Natural variantiVAR_01956798L → P in CMS4A; rare example of recessive inheritance. 1 PublicationCorresponds to variant dbSNP:rs28929768EnsemblClinVar.1
Natural variantiVAR_000289141P → L in CMS4B; marked decrease in rate of AChR channel opening; reduction in frequency of open channel state and resistance to desensitization by ACh. 1 PublicationCorresponds to variant dbSNP:rs121909512EnsemblClinVar.1
Natural variantiVAR_021214163S → L in CMS4B; fails to assemble with alpha CHRNA1 subunit of AChR. 1 PublicationCorresponds to variant dbSNP:rs121909516EnsemblClinVar.1
Natural variantiVAR_000290167R → L in CMS4C; significantly reduced AChR expression. 1 PublicationCorresponds to variant dbSNP:rs121909514EnsemblClinVar.1
Natural variantiVAR_019568241L → F in CMS4A; mild form with variable penetrance. 1 PublicationCorresponds to variant dbSNP:rs28999110EnsemblClinVar.1
Natural variantiVAR_000291265P → L in CMS4C; prolongs burst open duration 2-fold by slowing the rate of channel closing. 1 PublicationCorresponds to variant dbSNP:rs759226183EnsemblClinVar.1
Natural variantiVAR_000292284T → P in CMS4A; markedly prolonged channel openings in presence of agonist; as well as opening in the absence of agonist. 1 PublicationCorresponds to variant dbSNP:rs121909510EnsemblClinVar.1
Natural variantiVAR_077364285V → A in CMS4A; slow-channel mutation; increases gating equilibrium constant by 25-fold, owing to increased opening rate and decreased closing rate; no effect on the choline dissociation rate constant. 1 Publication1
Natural variantiVAR_000293289L → F in CMS4A; slows rate of AChR channel closure and increases apparent affinity for ACh; causes pathologic channel openings even in the absence of ACh resulting in a leaky channel. 2 PublicationsCorresponds to variant dbSNP:rs121909511EnsemblClinVar.1
Natural variantiVAR_000294331R → W in CMS4C; shortens burst duration 2-fold by slowing the rate of channel opening and speeding the rate of ACh dissociation; has a mild fast-channel kinetic effect on the AChR by shortening the long burst and increasing the decay of the endplate current. 1 PublicationCorresponds to variant dbSNP:rs121909515EnsemblClinVar.1
Natural variantiVAR_021215431A → P in CMS4B; causes an increase in distributions of rates for channel opening and closing increasing the range of activation kinetics. 1 PublicationCorresponds to variant dbSNP:rs121909517EnsemblClinVar.1

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
X66403 mRNA Translation: CAA47030.1
AF105999 Genomic DNA Translation: AAD24503.1
CH471108 Genomic DNA Translation: EAW90395.1
CH471108 Genomic DNA Translation: EAW90396.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS11058.1

Protein sequence database of the Protein Information Resource

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PIRi
S34775

NCBI Reference Sequences

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RefSeqi
NP_000071.1, NM_000080.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000293780; ENSP00000293780; ENSG00000108556
ENST00000649488; ENSP00000497829; ENSG00000108556

Database of genes from NCBI RefSeq genomes

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GeneIDi
1145

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:1145

UCSC genome browser

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UCSCi
uc002fzk.2 human

Keywords - Coding sequence diversityi

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
X66403 mRNA Translation: CAA47030.1
AF105999 Genomic DNA Translation: AAD24503.1
CH471108 Genomic DNA Translation: EAW90395.1
CH471108 Genomic DNA Translation: EAW90396.1
CCDSiCCDS11058.1
PIRiS34775
RefSeqiNP_000071.1, NM_000080.3

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2DF9model-A240-332[»]
ModBaseiSearch...
SWISS-MODEL-WorkspaceiSubmit a new modelling project...

Protein-protein interaction databases

BioGridi107567, 2 interactors
ComplexPortaliCPX-255 Muscle-type nicotinic acetylcholine receptor complex, alpha1-beta1-delta-epsilon
STRINGi9606.ENSP00000293780

Chemistry databases

BindingDBiQ04844
ChEMBLiCHEMBL2484
DrugBankiDB00674 Galantamine

Protein family/group databases

TCDBi1.A.9.1.1 the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family

PTM databases

iPTMnetiQ04844
PhosphoSitePlusiQ04844

Polymorphism and mutation databases

BioMutaiCHRNE
DMDMi1168301

Proteomic databases

jPOSTiQ04844
MaxQBiQ04844
PaxDbiQ04844
PeptideAtlasiQ04844
PRIDEiQ04844
ProteomicsDBi58287

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000293780; ENSP00000293780; ENSG00000108556
ENST00000649488; ENSP00000497829; ENSG00000108556
GeneIDi1145
KEGGihsa:1145
UCSCiuc002fzk.2 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
1145
DisGeNETi1145

GeneCards: human genes, protein and diseases

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GeneCardsi
CHRNE
GeneReviewsiCHRNE

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0027273
HGNCiHGNC:1966 CHRNE
MalaCardsiCHRNE
MIMi100725 gene
254200 phenotype
605809 phenotype
608931 phenotype
616324 phenotype
neXtProtiNX_Q04844
OpenTargetsiENSG00000108556
Orphaneti98913 Postsynaptic congenital myasthenic syndromes
PharmGKBiPA26498

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3645 Eukaryota
ENOG410XQGR LUCA
GeneTreeiENSGT00940000160933
HOGENOMiHOG000006757
InParanoidiQ04844
KOiK04817
OMAiDFCPGVI
OrthoDBi588360at2759
PhylomeDBiQ04844
TreeFamiTF315605

Enzyme and pathway databases

ReactomeiR-HSA-629587 Highly sodium permeable acetylcholine nicotinic receptors

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
CHRNE

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

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GenomeRNAii
1145

Protein Ontology

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PROi
PR:Q04844

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000108556 Expressed in 83 organ(s), highest expression level in adenohypophysis
GenevisibleiQ04844 HS

Family and domain databases

Gene3Di2.70.170.10, 1 hit
InterProiView protein in InterPro
IPR006202 Neur_chan_lig-bd
IPR036734 Neur_chan_lig-bd_sf
IPR006201 Neur_channel
IPR036719 Neuro-gated_channel_TM_sf
IPR006029 Neurotrans-gated_channel_TM
IPR018000 Neurotransmitter_ion_chnl_CS
IPR002394 Nicotinic_acetylcholine_rcpt
PANTHERiPTHR18945 PTHR18945, 1 hit
PfamiView protein in Pfam
PF02931 Neur_chan_LBD, 1 hit
PF02932 Neur_chan_memb, 1 hit
PRINTSiPR00254 NICOTINICR
PR00252 NRIONCHANNEL
SUPFAMiSSF63712 SSF63712, 1 hit
SSF90112 SSF90112, 1 hit
PROSITEiView protein in PROSITE
PS00236 NEUROTR_ION_CHANNEL, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<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 nameiACHE_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: Q04844
Secondary accession number(s): D3DTK6
<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: February 1, 1994
Last sequence update: November 1, 1995
Last modified: May 8, 2019
This is version 179 of the entry and version 2 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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