UniProtKB - P11230 (ACHB_HUMAN)
Acetylcholine receptor subunit beta
CHRNB1
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 PublicationGO - Molecular functioni
- acetylcholine binding Source: UniProtKB
- acetylcholine-gated cation-selective channel activity Source: Ensembl
- channel activity Source: UniProtKB
- ligand-gated ion channel activity Source: UniProtKB
- neurotransmitter receptor activity Source: GO_Central
- transmembrane signaling receptor activity Source: InterPro
- transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential Source: SynGO
GO - Biological processi
- acetylcholine receptor signaling pathway Source: ComplexPortal
- behavioral response to nicotine Source: UniProtKB
- cation transport Source: UniProtKB
- chemical synaptic transmission Source: GO_Central
- ion transmembrane transport Source: GO_Central
- muscle cell development Source: UniProtKB
- muscle contraction Source: UniProtKB
- nervous system process Source: UniProtKB
- neuromuscular synaptic transmission Source: UniProtKB
- postsynaptic membrane organization Source: UniProtKB
- regulation of membrane potential Source: UniProtKB
- signal transduction Source: UniProtKB
- skeletal muscle contraction Source: Ensembl
- synaptic transmission, cholinergic Source: UniProtKB
Keywordsi
Molecular function | Ion channel, Ligand-gated ion channel, Receptor |
Biological process | Ion transport, Transport |
Enzyme and pathway databases
PathwayCommonsi | P11230 |
SignaLinki | P11230 |
Protein family/group databases
TCDBi | 1.A.9.1.1, the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family |
Names & Taxonomyi
Protein namesi | Recommended name: Acetylcholine receptor subunit beta |
Gene namesi | Name:CHRNB1 Synonyms:ACHRB, CHRNB |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:1961, CHRNB1 |
MIMi | 100710, gene |
neXtProti | NX_P11230 |
VEuPathDBi | HostDB:ENSG00000170175 |
Subcellular locationi
Plasma Membrane
- acetylcholine-gated channel complex Source: UniProtKB
- integral component of plasma membrane Source: GO_Central
- integral component of postsynaptic specialization membrane Source: Ensembl
Other locations
- neuromuscular junction Source: SynGO
- neuron projection Source: GO_Central
- synapse Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 24 – 244 | ExtracellularSequence analysisAdd BLAST | 221 | |
Transmembranei | 245 – 269 | HelicalSequence analysisAdd BLAST | 25 | |
Transmembranei | 277 – 295 | HelicalSequence analysisAdd BLAST | 19 | |
Transmembranei | 311 – 332 | HelicalSequence analysisAdd BLAST | 22 | |
Topological domaini | 333 – 469 | CytoplasmicSequence analysisAdd BLAST | 137 | |
Transmembranei | 470 – 488 | HelicalSequence analysisAdd BLAST | 19 |
Keywords - Cellular componenti
Cell junction, Cell membrane, Membrane, Postsynaptic cell membrane, SynapsePathology & Biotechi
Involvement in diseasei
Myasthenic syndrome, congenital, 2A, slow-channel (CMS2A)3 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_000287 | 285 | L → M in CMS2A. 1 PublicationCorresponds to variant dbSNP:rs137852811EnsemblClinVar. | 1 | |
Natural variantiVAR_077363 | 289 | V → A in CMS2A; slow-channel mutation; increases gating equilibrium constant by 33-fold, owing to increased opening rate and decreased closing rate; no effect on the choline dissociation rate constant. 1 Publication | 1 | |
Natural variantiVAR_000288 | 289 | V → M in CMS2A. 1 PublicationCorresponds to variant dbSNP:rs137852810EnsemblClinVar. | 1 |
Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency (CMS2C)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_017494 | 449 – 451 | Missing in CMS2C; impairs AChR assembly by disrupting a specific interaction between beta and delta subunits. 1 Publication | 3 |
Keywords - Diseasei
Congenital myasthenic syndrome, Disease variantOrganism-specific databases
DisGeNETi | 1140 |
GeneReviewsi | CHRNB1 |
MalaCardsi | CHRNB1 |
MIMi | 616313, phenotype 616314, phenotype |
OpenTargetsi | ENSG00000170175 |
Orphaneti | 98913, Postsynaptic congenital myasthenic syndromes |
PharmGKBi | PA26494 |
Miscellaneous databases
Pharosi | P11230, Tclin |
Chemistry databases
ChEMBLi | CHEMBL1907588 CHEMBL3885508 CHEMBL4106145 |
DrugCentrali | P11230 |
Genetic variation databases
BioMutai | CHRNB1 |
DMDMi | 21903373 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 23 | Add BLAST | 23 | |
ChainiPRO_0000000315 | 24 – 501 | Acetylcholine receptor subunit betaAdd BLAST | 478 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 151 ↔ 165 | By similarity | ||
Glycosylationi | 164 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 390 | Phosphotyrosine; by Tyr-kinasesBy similarity | 1 |
Keywords - PTMi
Disulfide bond, Glycoprotein, PhosphoproteinProteomic databases
EPDi | P11230 |
jPOSTi | P11230 |
MassIVEi | P11230 |
PaxDbi | P11230 |
PeptideAtlasi | P11230 |
PRIDEi | P11230 |
ProteomicsDBi | 52725 [P11230-1] 6694 |
PTM databases
GlyGeni | P11230, 1 site |
iPTMneti | P11230 |
PhosphoSitePlusi | P11230 |
Expressioni
Gene expression databases
Bgeei | ENSG00000170175, Expressed in gastrocnemius and 163 other tissues |
ExpressionAtlasi | P11230, baseline and differential |
Genevisiblei | P11230, HS |
Organism-specific databases
HPAi | ENSG00000170175, Tissue enhanced (skeletal muscle, tongue) |
Interactioni
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 PublicationBinary interactionsi
P11230
With | #Exp. | IntAct |
---|---|---|
ASB6 [Q9NWX5] | 3 | EBI-724218,EBI-6425205 |
Protein-protein interaction databases
BioGRIDi | 107562, 43 interactors |
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 |
IntActi | P11230, 2 interactors |
STRINGi | 9606.ENSP00000304290 |
Chemistry databases
BindingDBi | P11230 |
Miscellaneous databases
RNActi | P11230, protein |
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3645, Eukaryota |
GeneTreei | ENSGT00940000158661 |
HOGENOMi | CLU_018074_1_4_1 |
InParanoidi | P11230 |
OMAi | PCILITV |
OrthoDBi | 776653at2759 |
PhylomeDBi | P11230 |
TreeFami | TF315605 |
Family and domain databases
Gene3Di | 1.20.58.390, 2 hits 2.70.170.10, 1 hit |
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 IPR038050, Neuro_actylchol_rec IPR006029, Neurotrans-gated_channel_TM IPR018000, Neurotransmitter_ion_chnl_CS IPR002394, Nicotinic_acetylcholine_rcpt |
PANTHERi | PTHR18945, PTHR18945, 1 hit |
Pfami | View protein in Pfam PF02931, Neur_chan_LBD, 1 hit PF02932, Neur_chan_memb, 1 hit |
PRINTSi | PR00254, NICOTINICR PR00252, NRIONCHANNEL |
SUPFAMi | SSF63712, SSF63712, 1 hit SSF90112, SSF90112, 1 hit |
TIGRFAMsi | TIGR00860, LIC, 1 hit |
PROSITEi | View protein in PROSITE PS00236, NEUROTR_ION_CHANNEL, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MTPGALLMLL GALGAPLAPG VRGSEAEGRL REKLFSGYDS SVRPAREVGD
60 70 80 90 100
RVRVSVGLIL AQLISLNEKD EEMSTKVYLD LEWTDYRLSW DPAEHDGIDS
110 120 130 140 150
LRITAESVWL PDVVLLNNND GNFDVALDIS VVVSSDGSVR WQPPGIYRSS
160 170 180 190 200
CSIQVTYFPF DWQNCTMVFS SYSYDSSEVS LQTGLGPDGQ GHQEIHIHEG
210 220 230 240 250
TFIENGQWEI IHKPSRLIQP PGDPRGGREG QRQEVIFYLI IRRKPLFYLV
260 270 280 290 300
NVIAPCILIT LLAIFVFYLP PDAGEKMGLS IFALLTLTVF LLLLADKVPE
310 320 330 340 350
TSLSVPIIIK YLMFTMVLVT FSVILSVVVL NLHHRSPHTH QMPLWVRQIF
360 370 380 390 400
IHKLPLYLRL KRPKPERDLM PEPPHCSSPG SGWGRGTDEY FIRKPPSDFL
410 420 430 440 450
FPKPNRFQPE LSAPDLRRFI DGPNRAVALL PELREVVSSI SYIARQLQEQ
460 470 480 490 500
EDHDALKEDW QFVAMVVDRL FLWTFIIFTS VGTLVIFLDA TYHLPPPDPF
P
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketI3L3Q9 | I3L3Q9_HUMAN | Acetylcholine receptor subunit beta | CHRNB1 | 316 | Annotation score: | ||
I3L1T7 | I3L1T7_HUMAN | Acetylcholine receptor subunit beta | CHRNB1 | 380 | Annotation score: | ||
I3L4N5 | I3L4N5_HUMAN | Acetylcholine receptor subunit beta | CHRNB1 | 158 | Annotation score: | ||
I3L535 | I3L535_HUMAN | Acetylcholine receptor subunit beta | CHRNB1 | 37 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 15 | A → P in CAA32939 (PubMed:2740233).Curated | 1 | |
Sequence conflicti | 210 | I → N in CAA32939 (PubMed:2740233).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_048169 | 32 | E → G1 PublicationCorresponds to variant dbSNP:rs17856697EnsemblClinVar. | 1 | |
Natural variantiVAR_070842 | 124 | D → Y1 PublicationCorresponds to variant dbSNP:rs17856698Ensembl. | 1 | |
Natural variantiVAR_000287 | 285 | L → M in CMS2A. 1 PublicationCorresponds to variant dbSNP:rs137852811EnsemblClinVar. | 1 | |
Natural variantiVAR_077363 | 289 | V → A in CMS2A; slow-channel mutation; increases gating equilibrium constant by 33-fold, owing to increased opening rate and decreased closing rate; no effect on the choline dissociation rate constant. 1 Publication | 1 | |
Natural variantiVAR_000288 | 289 | V → M in CMS2A. 1 PublicationCorresponds to variant dbSNP:rs137852810EnsemblClinVar. | 1 | |
Natural variantiVAR_017494 | 449 – 451 | Missing in CMS2C; impairs AChR assembly by disrupting a specific interaction between beta and delta subunits. 1 Publication | 3 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_056675 | 1 – 72 | Missing in isoform 2. 1 PublicationAdd BLAST | 72 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X14830 mRNA Translation: CAA32939.1 AK298938 mRNA Translation: BAH12907.1 AC113189 Genomic DNA No translation available. BC011371 mRNA Translation: AAH11371.1 BC023553 mRNA Translation: AAH23553.1 |
CCDSi | CCDS11106.1 [P11230-1] |
PIRi | S04607 |
RefSeqi | NP_000738.2, NM_000747.2 [P11230-1] |
Genome annotation databases
Ensembli | ENST00000306071.7; ENSP00000304290.2; ENSG00000170175.11 ENST00000536404.6; ENSP00000439209.2; ENSG00000170175.11 [P11230-2] ENST00000639692.2; ENSP00000492221.1; ENSG00000283946.2 ENST00000639993.1; ENSP00000491113.1; ENSG00000283946.2 [P11230-2] |
GeneIDi | 1140 |
KEGGi | hsa:1140 |
MANE-Selecti | ENST00000306071.7; ENSP00000304290.2; NM_000747.3; NP_000738.2 |
UCSCi | uc002ghb.4, human [P11230-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X14830 mRNA Translation: CAA32939.1 AK298938 mRNA Translation: BAH12907.1 AC113189 Genomic DNA No translation available. BC011371 mRNA Translation: AAH11371.1 BC023553 mRNA Translation: AAH23553.1 |
CCDSi | CCDS11106.1 [P11230-1] |
PIRi | S04607 |
RefSeqi | NP_000738.2, NM_000747.2 [P11230-1] |
3D structure databases
AlphaFoldDBi | P11230 |
SMRi | P11230 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 107562, 43 interactors |
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 |
IntActi | P11230, 2 interactors |
STRINGi | 9606.ENSP00000304290 |
Chemistry databases
BindingDBi | P11230 |
ChEMBLi | CHEMBL1907588 CHEMBL3885508 CHEMBL4106145 |
DrugCentrali | P11230 |
Protein family/group databases
TCDBi | 1.A.9.1.1, the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family |
PTM databases
GlyGeni | P11230, 1 site |
iPTMneti | P11230 |
PhosphoSitePlusi | P11230 |
Genetic variation databases
BioMutai | CHRNB1 |
DMDMi | 21903373 |
Proteomic databases
EPDi | P11230 |
jPOSTi | P11230 |
MassIVEi | P11230 |
PaxDbi | P11230 |
PeptideAtlasi | P11230 |
PRIDEi | P11230 |
ProteomicsDBi | 52725 [P11230-1] 6694 |
Protocols and materials databases
Antibodypediai | 992, 266 antibodies from 35 providers |
DNASUi | 1140 |
Genome annotation databases
Ensembli | ENST00000306071.7; ENSP00000304290.2; ENSG00000170175.11 ENST00000536404.6; ENSP00000439209.2; ENSG00000170175.11 [P11230-2] ENST00000639692.2; ENSP00000492221.1; ENSG00000283946.2 ENST00000639993.1; ENSP00000491113.1; ENSG00000283946.2 [P11230-2] |
GeneIDi | 1140 |
KEGGi | hsa:1140 |
MANE-Selecti | ENST00000306071.7; ENSP00000304290.2; NM_000747.3; NP_000738.2 |
UCSCi | uc002ghb.4, human [P11230-1] |
Organism-specific databases
CTDi | 1140 |
DisGeNETi | 1140 |
GeneCardsi | CHRNB1 |
GeneReviewsi | CHRNB1 |
HGNCi | HGNC:1961, CHRNB1 |
HPAi | ENSG00000170175, Tissue enhanced (skeletal muscle, tongue) |
MalaCardsi | CHRNB1 |
MIMi | 100710, gene 616313, phenotype 616314, phenotype |
neXtProti | NX_P11230 |
OpenTargetsi | ENSG00000170175 |
Orphaneti | 98913, Postsynaptic congenital myasthenic syndromes |
PharmGKBi | PA26494 |
VEuPathDBi | HostDB:ENSG00000170175 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3645, Eukaryota |
GeneTreei | ENSGT00940000158661 |
HOGENOMi | CLU_018074_1_4_1 |
InParanoidi | P11230 |
OMAi | PCILITV |
OrthoDBi | 776653at2759 |
PhylomeDBi | P11230 |
TreeFami | TF315605 |
Enzyme and pathway databases
PathwayCommonsi | P11230 |
SignaLinki | P11230 |
Miscellaneous databases
BioGRID-ORCSi | 1140, 13 hits in 1078 CRISPR screens |
ChiTaRSi | CHRNB1, human |
GeneWikii | CHRNB1 |
GenomeRNAii | 1140 |
Pharosi | P11230, Tclin |
PROi | PR:P11230 |
RNActi | P11230, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000170175, Expressed in gastrocnemius and 163 other tissues |
ExpressionAtlasi | P11230, baseline and differential |
Genevisiblei | P11230, HS |
Family and domain databases
Gene3Di | 1.20.58.390, 2 hits 2.70.170.10, 1 hit |
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 IPR038050, Neuro_actylchol_rec IPR006029, Neurotrans-gated_channel_TM IPR018000, Neurotransmitter_ion_chnl_CS IPR002394, Nicotinic_acetylcholine_rcpt |
PANTHERi | PTHR18945, PTHR18945, 1 hit |
Pfami | View protein in Pfam PF02931, Neur_chan_LBD, 1 hit PF02932, Neur_chan_memb, 1 hit |
PRINTSi | PR00254, NICOTINICR PR00252, NRIONCHANNEL |
SUPFAMi | SSF63712, SSF63712, 1 hit SSF90112, SSF90112, 1 hit |
TIGRFAMsi | TIGR00860, LIC, 1 hit |
PROSITEi | View protein in PROSITE PS00236, NEUROTR_ION_CHANNEL, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | ACHB_HUMAN | |
Accessioni | P11230Primary (citable) accession number: P11230 Secondary accession number(s): B7Z5H1, Q8IZ46, Q96FB8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 1, 1989 |
Last sequence update: | July 11, 2002 | |
Last modified: | May 25, 2022 | |
This is version 225 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families