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Protein

Acetylcholine receptor subunit alpha

Gene

CHRNA1

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

  • acetylcholine binding Source: Ensembl
  • acetylcholine-gated cation-selective channel activity Source: MGI
  • acetylcholine receptor activity Source: ProtInc
  • ion channel activity Source: ProtInc
  • transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential Source: SynGO

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

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Reactomei
R-HSA-629594 Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
R-HSA-629597 Highly calcium permeable nicotinic acetylcholine receptors

SIGNOR Signaling Network Open Resource

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SIGNORi
P02708

Protein family/group databases

Transport Classification Database

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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 alpha
<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:CHRNA1
Synonyms:ACHRA, CHNRA
<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 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000138435.14

Human Gene Nomenclature Database

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HGNCi
HGNC:1955 CHRNA1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
100690 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P02708

<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

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 – 255ExtracellularAdd BLAST235
<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>Transmembranei256 – 280HelicalAdd BLAST25
Transmembranei288 – 306HelicalAdd BLAST19
Transmembranei322 – 341HelicalAdd BLAST20
Topological domaini342 – 453CytoplasmicAdd BLAST112
Transmembranei454 – 472HelicalAdd 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.
See also OMIM:253290
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_043904254R → L in LMPS. 1 PublicationCorresponds to variant dbSNP:rs137852809EnsemblClinVar.1
The alpha subunit is the main focus for antibody binding in 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, 1A, slow-channel (CMS1A)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA common congenital myasthenic syndrome. Congenital myasthenic syndromes are characterized by 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. CMS1A 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.
See also OMIM:601462
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_000282198G → S in CMS1A. 2 PublicationsCorresponds to variant dbSNP:rs137852801Ensembl.1
Natural variantiVAR_000283201V → M in CMS1A. 1 PublicationCorresponds to variant dbSNP:rs137852799EnsemblClinVar.1
Natural variantiVAR_000284262N → K in CMS1A. 1 PublicationCorresponds to variant dbSNP:rs137852798EnsemblClinVar.1
Natural variantiVAR_021207294V → F in CMS1A; causes increased channel opening in absence of ACh; prolonged opening in presence of ACh; increased affinity for ACh and enhanced desensitization. 1 PublicationCorresponds to variant dbSNP:rs137852803Ensembl.1
Natural variantiVAR_000285299T → I in CMS1A. 1 PublicationCorresponds to variant dbSNP:rs137852800EnsemblClinVar.1
Natural variantiVAR_000286314S → I in CMS1A. 1 PublicationCorresponds to variant dbSNP:rs137852802EnsemblClinVar.1
Natural variantiVAR_038601463C → W in CMS1A; increases the rate of channel opening and slows the rate of channel closing but has no effect on agonist binding. 1 PublicationCorresponds to variant dbSNP:rs137852808EnsemblClinVar.1
Myasthenic syndrome, congenital, 1B, fast-channel (CMS1B)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. CMS1B 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.
See also OMIM:608930
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_038599177V → L in CMS1B; mutant channel shows an approximately 30-fold decrease of ACh binding affinity for the second of 2 closed-state binding sites but only a 2-fold decrease in gating efficiency. 1 PublicationCorresponds to variant dbSNP:rs137852807EnsemblClinVar.1
Natural variantiVAR_021206278F → V in CMS1B; markedly reduced protein expression. 1 PublicationCorresponds to variant dbSNP:rs137852805EnsemblClinVar.1
Natural variantiVAR_021208301F → L in CMS1B; fewer and shorter ion channel activations with decreased channel opening rate and increased channel closing rate. 1 PublicationCorresponds to variant dbSNP:rs137852806EnsemblClinVar.1
Natural variantiVAR_021209330V → I in CMS1B; abnormally slow channel opening and closing resulting in abnormally brief current. 1 PublicationCorresponds to variant dbSNP:rs137852804EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'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>Mutagenesisi300V → A: Increased length of channel opening. 1 Publication1

Keywords - Diseasei

Congenital myasthenic syndrome, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
1134

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

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GeneReviewsi
CHRNA1

MalaCards human disease database

More...
MalaCardsi
CHRNA1
MIMi253290 phenotype
254200 phenotype
601462 phenotype
608930 phenotype

Open Targets

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OpenTargetsi
ENSG00000138435

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

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Orphaneti
33108 Lethal multiple pterygium syndrome
98913 Postsynaptic congenital myasthenic syndromes

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA26487

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL4808

Drug and drug target database

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DrugBanki
DB08838 Agmatine
DB00674 Galantamine

IUPHAR/BPS Guide to PHARMACOLOGY

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GuidetoPHARMACOLOGYi
462

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
CHRNA1

Domain mapping of disease mutations (DMDM)

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DMDMi
113071

<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 – 201 PublicationAdd 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_000000030521 – 482Acetylcholine receptor subunit alphaAdd BLAST462

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 bondi173 ↔ 187
<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>Glycosylationi186N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi237 ↔ 238Associated with receptor activation

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

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

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PaxDbi
P02708

PeptideAtlas

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PeptideAtlasi
P02708

PRoteomics IDEntifications database

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PRIDEi
P02708

ProteomicsDB human proteome resource

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ProteomicsDBi
51554
51555 [P02708-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P02708

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

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PhosphoSitePlusi
P02708

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Isoform 1 is only expressed in skeletal muscle. Isoform 2 is constitutively expressed in skeletal muscle, brain, heart, kidney, liver, lung and thymus.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000138435 Expressed in 84 organ(s), highest expression level in quadriceps femoris

CleanEx database of gene expression profiles

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CleanExi
HS_CHRNA1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P02708 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P02708 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA071554

<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
107556, 4 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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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

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IntActi
P02708, 3 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000261007

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
P02708

<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

Secondary structure

1482
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

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
1Y5Pmodel-B230-235[»]
1Y5Tmodel-B230-235[»]
1Y6Cmodel-B230-235[»]
4ZJSX-ray2.23A/B/C/D/E21-50[»]
A/B/C/D/E106-126[»]
5HBTX-ray2.61B21-256[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P02708

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

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SMRi
P02708

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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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

<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
ENSGT00940000156851

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000006756

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG003756

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P02708

KEGG Orthology (KO)

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KOi
K04803

Identification of Orthologs from Complete Genome Data

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OMAi
DFAIIHE

Database of Orthologous Groups

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OrthoDBi
1124079at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P02708

TreeFam database of animal gene trees

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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, 2 hits
PF02932 Neur_chan_memb, 2 hits

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, 2 hits
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>.<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 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 2 (identifier: P02708-1) [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
MEPWPLLLLF SLCSAGLVLG SEHETRLVAK LFKDYSSVVR PVEDHRQVVE
60 70 80 90 100
VTVGLQLIQL INVDEVNQIV TTNVRLKQGD MVDLPRPSCV TLGVPLFSHL
110 120 130 140 150
QNEQWVDYNL KWNPDDYGGV KKIHIPSEKI WRPDLVLYNN ADGDFAIVKF
160 170 180 190 200
TKVLLQYTGH ITWTPPAIFK SYCEIIVTHF PFDEQNCSMK LGTWTYDGSV
210 220 230 240 250
VAINPESDQP DLSNFMESGE WVIKESRGWK HSVTYSCCPD TPYLDITYHF
260 270 280 290 300
VMQRLPLYFI VNVIIPCLLF SFLTGLVFYL PTDSGEKMTL SISVLLSLTV
310 320 330 340 350
FLLVIVELIP STSSAVPLIG KYMLFTMVFV IASIIITVIV INTHHRSPST
360 370 380 390 400
HVMPNWVRKV FIDTIPNIMF FSTMKRPSRE KQDKKIFTED IDISDISGKP
410 420 430 440 450
GPPPMGFHSP LIKHPEVKSA IEGIKYIAET MKSDQESNNA AAEWKYVAMV
460 470 480
MDHILLGVFM LVCIIGTLAV FAGRLIELNQ QG
Length:482
Mass (Da):54,546
Last modified:August 1, 1990 - 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:i8B307AD69B91A28B
GO
Isoform 1 (identifier: P02708-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     79-103: Missing.

Show »
Length:457
Mass (Da):51,839
Checksum:i89480567D85C15B8
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G5E9G9G5E9G9_HUMAN
Acetylcholine receptor subunit alph...
CHRNA1 hCG_1811440
269Annotation 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>
E7ENE5E7ENE5_HUMAN
Acetylcholine receptor subunit alph...
CHRNA1
377Annotation 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>
A0A1B0GV17A0A1B0GV17_HUMAN
Acetylcholine receptor subunit alph...
CHRNA1
470Annotation 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>
B8ZZD3B8ZZD3_HUMAN
Acetylcholine receptor subunit alph...
CHRNA1
375Annotation 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>
F8WDS3F8WDS3_HUMAN
Acetylcholine receptor subunit alph...
CHRNA1
81Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence CAA49705 differs from that shown. Reason: Frameshift at position 104.Curated

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 conflicti415P → F in AAD14247 (PubMed:7725386).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_038599177V → L in CMS1B; mutant channel shows an approximately 30-fold decrease of ACh binding affinity for the second of 2 closed-state binding sites but only a 2-fold decrease in gating efficiency. 1 PublicationCorresponds to variant dbSNP:rs137852807EnsemblClinVar.1
Natural variantiVAR_000282198G → S in CMS1A. 2 PublicationsCorresponds to variant dbSNP:rs137852801Ensembl.1
Natural variantiVAR_000283201V → M in CMS1A. 1 PublicationCorresponds to variant dbSNP:rs137852799EnsemblClinVar.1
Natural variantiVAR_043904254R → L in LMPS. 1 PublicationCorresponds to variant dbSNP:rs137852809EnsemblClinVar.1
Natural variantiVAR_000284262N → K in CMS1A. 1 PublicationCorresponds to variant dbSNP:rs137852798EnsemblClinVar.1
Natural variantiVAR_021206278F → V in CMS1B; markedly reduced protein expression. 1 PublicationCorresponds to variant dbSNP:rs137852805EnsemblClinVar.1
Natural variantiVAR_021207294V → F in CMS1A; causes increased channel opening in absence of ACh; prolonged opening in presence of ACh; increased affinity for ACh and enhanced desensitization. 1 PublicationCorresponds to variant dbSNP:rs137852803Ensembl.1
Natural variantiVAR_000285299T → I in CMS1A. 1 PublicationCorresponds to variant dbSNP:rs137852800EnsemblClinVar.1
Natural variantiVAR_021208301F → L in CMS1B; fewer and shorter ion channel activations with decreased channel opening rate and increased channel closing rate. 1 PublicationCorresponds to variant dbSNP:rs137852806EnsemblClinVar.1
Natural variantiVAR_000286314S → I in CMS1A. 1 PublicationCorresponds to variant dbSNP:rs137852802EnsemblClinVar.1
Natural variantiVAR_021209330V → I in CMS1B; abnormally slow channel opening and closing resulting in abnormally brief current. 1 PublicationCorresponds to variant dbSNP:rs137852804EnsemblClinVar.1
Natural variantiVAR_038600383D → V. Corresponds to variant dbSNP:rs6739001Ensembl.1
Natural variantiVAR_038601463C → W in CMS1A; increases the rate of channel opening and slows the rate of channel closing but has no effect on agonist binding. 1 PublicationCorresponds to variant dbSNP:rs137852808EnsemblClinVar.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_00007179 – 103Missing in isoform 1. 2 PublicationsAdd BLAST25

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
X02502
, X02503, X02504, X02505, X02506, X02507, X02508 Genomic DNA Translation: CAA26344.1
Y00762 mRNA Translation: CAA68731.1
X17104 Genomic DNA Translation: CAA34960.1
AK299445 mRNA Translation: BAG61418.1
CH471058 Genomic DNA Translation: EAX11125.1
CH471058 Genomic DNA Translation: EAX11127.1
S77094 mRNA Translation: AAD14247.1
X70108 Genomic DNA Translation: CAA49705.1 Frameshift.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS2261.1 [P02708-2]
CCDS33331.1 [P02708-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
A03168 ACHUA1
S10148

NCBI Reference Sequences

More...
RefSeqi
NP_000070.1, NM_000079.3 [P02708-2]
NP_001034612.1, NM_001039523.2 [P02708-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.434479

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000261007; ENSP00000261007; ENSG00000138435 [P02708-1]
ENST00000348749; ENSP00000261008; ENSG00000138435 [P02708-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
1134

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:1134

UCSC genome browser

More...
UCSCi
uc002ujd.3 human [P02708-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
X02502
, X02503, X02504, X02505, X02506, X02507, X02508 Genomic DNA Translation: CAA26344.1
Y00762 mRNA Translation: CAA68731.1
X17104 Genomic DNA Translation: CAA34960.1
AK299445 mRNA Translation: BAG61418.1
CH471058 Genomic DNA Translation: EAX11125.1
CH471058 Genomic DNA Translation: EAX11127.1
S77094 mRNA Translation: AAD14247.1
X70108 Genomic DNA Translation: CAA49705.1 Frameshift.
CCDSiCCDS2261.1 [P02708-2]
CCDS33331.1 [P02708-1]
PIRiA03168 ACHUA1
S10148
RefSeqiNP_000070.1, NM_000079.3 [P02708-2]
NP_001034612.1, NM_001039523.2 [P02708-1]
UniGeneiHs.434479

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1Y5Pmodel-B230-235[»]
1Y5Tmodel-B230-235[»]
1Y6Cmodel-B230-235[»]
4ZJSX-ray2.23A/B/C/D/E21-50[»]
A/B/C/D/E106-126[»]
5HBTX-ray2.61B21-256[»]
ProteinModelPortaliP02708
SMRiP02708
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107556, 4 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
IntActiP02708, 3 interactors
STRINGi9606.ENSP00000261007

Chemistry databases

BindingDBiP02708
ChEMBLiCHEMBL4808
DrugBankiDB08838 Agmatine
DB00674 Galantamine
GuidetoPHARMACOLOGYi462

Protein family/group databases

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

PTM databases

iPTMnetiP02708
PhosphoSitePlusiP02708

Polymorphism and mutation databases

BioMutaiCHRNA1
DMDMi113071

Proteomic databases

PaxDbiP02708
PeptideAtlasiP02708
PRIDEiP02708
ProteomicsDBi51554
51555 [P02708-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
1134
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261007; ENSP00000261007; ENSG00000138435 [P02708-1]
ENST00000348749; ENSP00000261008; ENSG00000138435 [P02708-2]
GeneIDi1134
KEGGihsa:1134
UCSCiuc002ujd.3 human [P02708-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
1134
DisGeNETi1134
EuPathDBiHostDB:ENSG00000138435.14

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CHRNA1
GeneReviewsiCHRNA1
HGNCiHGNC:1955 CHRNA1
HPAiHPA071554
MalaCardsiCHRNA1
MIMi100690 gene
253290 phenotype
254200 phenotype
601462 phenotype
608930 phenotype
neXtProtiNX_P02708
OpenTargetsiENSG00000138435
Orphaneti33108 Lethal multiple pterygium syndrome
98913 Postsynaptic congenital myasthenic syndromes
PharmGKBiPA26487

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3645 Eukaryota
ENOG410XQGR LUCA
GeneTreeiENSGT00940000156851
HOGENOMiHOG000006756
HOVERGENiHBG003756
InParanoidiP02708
KOiK04803
OMAiDFAIIHE
OrthoDBi1124079at2759
PhylomeDBiP02708
TreeFamiTF315605

Enzyme and pathway databases

ReactomeiR-HSA-629594 Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
R-HSA-629597 Highly calcium permeable nicotinic acetylcholine receptors
SIGNORiP02708

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Cholinergic_receptor,_nicotinic,_alpha_1

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

More...
GenomeRNAii
1134

Protein Ontology

More...
PROi
PR:P02708

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000138435 Expressed in 84 organ(s), highest expression level in quadriceps femoris
CleanExiHS_CHRNA1
ExpressionAtlasiP02708 baseline and differential
GenevisibleiP02708 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, 2 hits
PF02932 Neur_chan_memb, 2 hits
PRINTSiPR00254 NICOTINICR
PR00252 NRIONCHANNEL
SUPFAMiSSF63712 SSF63712, 2 hits
SSF90112 SSF90112, 1 hit
PROSITEiView protein in PROSITE
PS00236 NEUROTR_ION_CHANNEL, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
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 nameiACHA_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: P02708
Secondary accession number(s): B4DRV6, D3DPE8
<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: July 21, 1986
Last sequence update: August 1, 1990
Last modified: January 16, 2019
This is version 208 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, Direct protein sequencing, Reference proteome

Documents

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