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UniProtKB - Q07001 (ACHD_HUMAN)

Entry version 192 (17 Jun 2020)
Sequence version 1 (01 Jun 1994)
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Protein

Acetylcholine receptor subunit delta

Gene

CHRND

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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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%5Fand%5Ftaxonomy%5Fsection">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 delta
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:CHRND
Synonyms:ACHRD
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000135902.9

Human Gene Nomenclature Database

More...HGNCi		HGNC:1965 CHRND

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		100720 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q07001

<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%5Flocation%5Fsection">'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 domaini22 – 245ExtracellularSequence analysisAdd BLAST224
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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>Transmembranei246 – 270HelicalSequence analysisAdd BLAST25
Transmembranei278 – 299HelicalSequence analysisAdd BLAST22
Transmembranei312 – 333HelicalSequence analysisAdd BLAST22
Topological domaini334 – 471CytoplasmicSequence analysisAdd BLAST138
Transmembranei472 – 490HelicalSequence analysisAdd BLAST19

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

Multiple pterygium syndrome, lethal type (LMPS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionMultiple pterygia are found infrequently in children with arthrogryposis and in fetuses with fetal akinesia syndrome. In lethal multiple pterygium syndrome there is intrauterine growth retardation, multiple pterygia, and flexion contractures causing severe arthrogryposis and fetal akinesia. Subcutaneous edema can be severe, causing fetal hydrops with cystic hygroma and lung hypoplasia. Oligohydramnios and facial anomalies are frequent.
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_04390595F → L in LMPS. 1 PublicationCorresponds to variant dbSNP:rs121909506EnsemblClinVar.1
Myasthenic syndrome, congenital, 3A, slow-channel (CMS3A)2 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. CMS3A 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
Natural variantiVAR_021212288Q → E in CMS3A; a benign mutation or a rare polymorphism. 1 PublicationCorresponds to variant dbSNP:rs41265127EnsemblClinVar.1
Natural variantiVAR_019566289S → F in CMS3A; delayed closure of AchR ion channels, increasing the propensity for open-channel block, as well as a reduced rate of channel opening. 1 PublicationCorresponds to variant dbSNP:rs121909502EnsemblClinVar.1
Myasthenic syndrome, congenital, 3B, fast-channel (CMS3B)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. CMS3B 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_07369142L → P in CMS3B; results in reduced gating efficiency; slows opening of the channel; decreases probability that the channel will open in response to ACh. 1 Publication1
Natural variantiVAR_07369279I → K in CMS3B; prevents expression of the AChR on the cell surface; is a null mutation. 1 PublicationCorresponds to variant dbSNP:rs121909509EnsemblClinVar.1
Natural variantiVAR_02121080E → K in CMS3B; reduced adult and fetal AChR expression and a reduced probability of both adult and fetal AChR being in the open state. 1 PublicationCorresponds to variant dbSNP:rs121909504EnsemblClinVar.1
Natural variantiVAR_021211271P → Q in CMS3B; burst duration was decreased and disassociation of ACh was increased resulting in brief channel opening episodes; shows abnormal association with alpha CHRNA1 subunit resulting in a decreased number of fully assembled AChRs. 1 PublicationCorresponds to variant dbSNP:rs121909503EnsemblClinVar.1
Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency (CMS3C)2 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. CMS3C 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_073694402E → K in CMS3C; results in reduced expression of the AChR at the cell surface; impairs normal clustering of the AChR channel with RAPSN. 1 PublicationCorresponds to variant dbSNP:rs145955590EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi290V → A: Increased length of channel opening. 1 Publication1

Keywords - Diseasei

Congenital myasthenic syndrome, Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		1144

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

More...GeneReviewsi		CHRND

MalaCards human disease database

More...MalaCardsi		CHRND
MIMi253290 phenotype
616321 phenotype
616322 phenotype
616323 phenotype

Open Targets

More...OpenTargetsi		ENSG00000135902

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

More...Orphaneti		33108 Lethal multiple pterygium syndrome
98913 Postsynaptic congenital myasthenic syndromes

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA26497

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q07001 Tclin

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL3011

Drug and drug target database

More...DrugBanki		DB00674 Galantamine

DrugCentral

More...DrugCentrali		Q07001

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		476

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		CHRND

Domain mapping of disease mutations (DMDM)

More...DMDMi		543759

<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 – 21By similarityAdd BLAST21
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000032222 – 517Acetylcholine receptor subunit deltaAdd BLAST496

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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>Glycosylationi97N-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 bondi151 ↔ 165By similarity
Glycosylationi164N-linked (GlcNAc...) asparagineSequence analysis1
<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 residuei390Phosphotyrosine; by Tyr-kinasesBy similarity1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q07001

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q07001

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

More...PaxDbi		Q07001

PeptideAtlas

More...PeptideAtlasi		Q07001

PRoteomics IDEntifications database

More...PRIDEi		Q07001

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		5090
58494 [Q07001-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q07001

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

More...PhosphoSitePlusi		Q07001

<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		ENSG00000135902 Expressed in gastrocnemius and 57 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q07001 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q07001 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000135902 Tissue enriched (skeletal)

<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%5Fsection">'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%5Fsection">'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)

More...BioGRIDi		107566, 61 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-2179 Muscle-type nicotinic acetylcholine receptor complex, alpha1-beta1-delta-gamma
CPX-255 Muscle-type nicotinic acetylcholine receptor complex, alpha1-beta1-delta-epsilon

Protein interaction database and analysis system

More...IntActi		Q07001, 52 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000258385

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		Q07001

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q07001 protein

<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

Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Delta/CHRND sub-subfamily. [View classification]Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3645 Eukaryota
ENOG410XQGR LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000159794

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_018074_1_4_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q07001

KEGG Orthology (KO)

More...KOi		K04816

Identification of Orthologs from Complete Genome Data

More...OMAi		EKDCWNR

Database of Orthologous Groups

More...OrthoDBi		588360at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q07001

TreeFam database of animal gene trees

More...TreeFami		TF315605

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.70.170.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...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

More...PANTHERi		PTHR18945 PTHR18945, 1 hit

Pfam protein domain database

More...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

More...PRINTSi		PR00254 NICOTINICR
PR00252 NRIONCHANNEL

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF63712 SSF63712, 1 hit
SSF90112 SSF90112, 1 hit

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR00860 LIC, 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%5Flength">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>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q07001-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MEGPVLTLGL LAALAVCGSW GLNEEERLIR HLFQEKGYNK ELRPVAHKEE 
        60         70         80         90        100
SVDVALALTL SNLISLKEVE ETLTTNVWIE HGWTDNRLKW NAEEFGNISV 
       110        120        130        140        150
LRLPPDMVWL PEIVLENNND GSFQISYSCN VLVYHYGFVY WLPPAIFRSS 
       160        170        180        190        200
CPISVTYFPF DWQNCSLKFS SLKYTAKEIT LSLKQDAKEN RTYPVEWIII 
       210        220        230        240        250
DPEGFTENGE WEIVHRPARV NVDPRAPLDS PSRQDITFYL IIRRKPLFYI 
       260        270        280        290        300
INILVPCVLI SFMVNLVFYL PADSGEKTSV AISVLLAQSV FLLLISKRLP 
       310        320        330        340        350
ATSMAIPLIG KFLLFGMVLV TMVVVICVIV LNIHFRTPST HVLSEGVKKL 
       360        370        380        390        400
FLETLPELLH MSRPAEDGPS PGALVRRSSS LGYISKAEEY FLLKSRSDLM 
       410        420        430        440        450
FEKQSERHGL ARRLTTARRP PASSEQAQQE LFNELKPAVD GANFIVNHMR 
       460        470        480        490        500
DQNNYNEEKD SWNRVARTVD RLCLFVVTPV MVVGTAWIFL QGVYNQPPPQ 
       510 
PFPGDPYSYN VQDKRFI
Length:517
Mass (Da):58,895
Last modified:June 1, 1994 - v1
<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:i195CEF69358758BD
GO
Isoform 2 (identifier: Q07001-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     67-81: Missing.

Show »
Length:502
Mass (Da):57,085
Checksum:iF92918A13048F74A
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B4DKT6B4DKT6_HUMAN
Acetylcholine receptor subunit delt...
CHRND
235Annotation 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>
C9JJV8C9JJV8_HUMAN
Acetylcholine receptor subunit delt...
CHRND
172Annotation 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>
F8WBS0F8WBS0_HUMAN
Acetylcholine receptor subunit delt...
CHRND
171Annotation 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>
F8WB46F8WB46_HUMAN
Acetylcholine receptor subunit delt...
CHRND
108Annotation 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_07369142L → P in CMS3B; results in reduced gating efficiency; slows opening of the channel; decreases probability that the channel will open in response to ACh. 1 Publication1
Natural variantiVAR_07369279I → K in CMS3B; prevents expression of the AChR on the cell surface; is a null mutation. 1 PublicationCorresponds to variant dbSNP:rs121909509EnsemblClinVar.1
Natural variantiVAR_02121080E → K in CMS3B; reduced adult and fetal AChR expression and a reduced probability of both adult and fetal AChR being in the open state. 1 PublicationCorresponds to variant dbSNP:rs121909504EnsemblClinVar.1
Natural variantiVAR_04390595F → L in LMPS. 1 PublicationCorresponds to variant dbSNP:rs121909506EnsemblClinVar.1
Natural variantiVAR_073693114V → L Polymorphism; has no appreciable kinetic effects; allows for robust AChR expression. 1 PublicationCorresponds to variant dbSNP:rs760395222Ensembl.1
Natural variantiVAR_021211271P → Q in CMS3B; burst duration was decreased and disassociation of ACh was increased resulting in brief channel opening episodes; shows abnormal association with alpha CHRNA1 subunit resulting in a decreased number of fully assembled AChRs. 1 PublicationCorresponds to variant dbSNP:rs121909503EnsemblClinVar.1
Natural variantiVAR_021212288Q → E in CMS3A; a benign mutation or a rare polymorphism. 1 PublicationCorresponds to variant dbSNP:rs41265127EnsemblClinVar.1
Natural variantiVAR_019566289S → F in CMS3A; delayed closure of AchR ion channels, increasing the propensity for open-channel block, as well as a reduced rate of channel opening. 1 PublicationCorresponds to variant dbSNP:rs121909502EnsemblClinVar.1
Natural variantiVAR_036031398D → E in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_073694402E → K in CMS3C; results in reduced expression of the AChR at the cell surface; impairs normal clustering of the AChR channel with RAPSN. 1 PublicationCorresponds to variant dbSNP:rs145955590EnsemblClinVar.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_04642367 – 81Missing in isoform 2. 1 PublicationAdd BLAST15

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
X55019 mRNA Translation: CAA38759.1
AK291526 mRNA Translation: BAF84215.1
AK300109 mRNA Translation: BAG61904.1
AK315297 mRNA Translation: BAG37703.1
AC092165 Genomic DNA Translation: AAY24102.1
CH471063 Genomic DNA Translation: EAW71003.1
BC093923 mRNA Translation: AAH93923.1
BC093925 mRNA Translation: AAH93925.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS2494.1 [Q07001-1]
CCDS58754.1 [Q07001-2]

Protein sequence database of the Protein Information Resource

More...PIRi		A60916

NCBI Reference Sequences

More...RefSeqi		NP_000742.1, NM_000751.2 [Q07001-1]
NP_001243586.1, NM_001256657.1 [Q07001-2]
NP_001298124.1, NM_001311195.1
NP_001298125.1, NM_001311196.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000258385; ENSP00000258385; ENSG00000135902 [Q07001-1]
ENST00000543200; ENSP00000438380; ENSG00000135902 [Q07001-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		1144

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:1144

UCSC genome browser

More...UCSCi		uc002vsw.5 human [Q07001-1]

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
X55019 mRNA Translation: CAA38759.1
AK291526 mRNA Translation: BAF84215.1
AK300109 mRNA Translation: BAG61904.1
AK315297 mRNA Translation: BAG37703.1
AC092165 Genomic DNA Translation: AAY24102.1
CH471063 Genomic DNA Translation: EAW71003.1
BC093923 mRNA Translation: AAH93923.1
BC093925 mRNA Translation: AAH93925.1
CCDSiCCDS2494.1 [Q07001-1]
CCDS58754.1 [Q07001-2]
PIRiA60916
RefSeqiNP_000742.1, NM_000751.2 [Q07001-1]
NP_001243586.1, NM_001256657.1 [Q07001-2]
NP_001298124.1, NM_001311195.1
NP_001298125.1, NM_001311196.1

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGRIDi107566, 61 interactors
ComplexPortaliCPX-2179 Muscle-type nicotinic acetylcholine receptor complex, alpha1-beta1-delta-gamma
CPX-255 Muscle-type nicotinic acetylcholine receptor complex, alpha1-beta1-delta-epsilon
IntActiQ07001, 52 interactors
STRINGi9606.ENSP00000258385

Chemistry databases

BindingDBiQ07001
ChEMBLiCHEMBL3011
DrugBankiDB00674 Galantamine
DrugCentraliQ07001
GuidetoPHARMACOLOGYi476

Protein family/group databases

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

PTM databases

iPTMnetiQ07001
PhosphoSitePlusiQ07001

Polymorphism and mutation databases

BioMutaiCHRND
DMDMi543759

Proteomic databases

jPOSTiQ07001
MaxQBiQ07001
PaxDbiQ07001
PeptideAtlasiQ07001
PRIDEiQ07001
ProteomicsDBi5090
58494 [Q07001-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		20219 189 antibodies

Genome annotation databases

EnsembliENST00000258385; ENSP00000258385; ENSG00000135902 [Q07001-1]
ENST00000543200; ENSP00000438380; ENSG00000135902 [Q07001-2]
GeneIDi1144
KEGGihsa:1144
UCSCiuc002vsw.5 human [Q07001-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		1144
DisGeNETi1144
EuPathDBiHostDB:ENSG00000135902.9

GeneCards: human genes, protein and diseases

More...GeneCardsi		CHRND
GeneReviewsiCHRND
HGNCiHGNC:1965 CHRND
HPAiENSG00000135902 Tissue enriched (skeletal)
MalaCardsiCHRND
MIMi100720 gene
253290 phenotype
616321 phenotype
616322 phenotype
616323 phenotype
neXtProtiNX_Q07001
OpenTargetsiENSG00000135902
Orphaneti33108 Lethal multiple pterygium syndrome
98913 Postsynaptic congenital myasthenic syndromes
PharmGKBiPA26497

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3645 Eukaryota
ENOG410XQGR LUCA
GeneTreeiENSGT00940000159794
HOGENOMiCLU_018074_1_4_1
InParanoidiQ07001
KOiK04816
OMAiEKDCWNR
OrthoDBi588360at2759
PhylomeDBiQ07001
TreeFamiTF315605

Enzyme and pathway databases

ReactomeiR-HSA-629587 Highly sodium permeable acetylcholine nicotinic receptors

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		1144 14 hits in 786 CRISPR screens

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		CHRND

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

More...GenomeRNAii		1144
PharosiQ07001 Tclin

Protein Ontology

More...PROi		PR:Q07001
RNActiQ07001 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000135902 Expressed in gastrocnemius and 57 other tissues
ExpressionAtlasiQ07001 baseline and differential
GenevisibleiQ07001 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
TIGRFAMsiTIGR00860 LIC, 1 hit
PROSITEiView protein in PROSITE
PS00236 NEUROTR_ION_CHANNEL, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...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 nameiACHD_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: Q07001
Secondary accession number(s): A8K661, B4DT92, Q52LH4
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: June 1, 1994
Last modified: June 17, 2020
This is version 192 of the entry and version 1 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

Reference proteome

Documents

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