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Protein

Acetylcholine receptor subunit beta

Gene

CHRNB1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

GO - Molecular functioni

GO - Biological processi

Keywordsi

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

Protein family/group databases

TCDBi1.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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000170175.10
HGNCiHGNC:1961 CHRNB1
MIMi100710 gene
neXtProtiNX_P11230

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
Topological domaini24 – 244ExtracellularSequence analysisAdd BLAST221
Transmembranei245 – 269HelicalSequence analysisAdd BLAST25
Transmembranei277 – 295HelicalSequence analysisAdd BLAST19
Transmembranei311 – 332HelicalSequence analysisAdd BLAST22
Topological domaini333 – 469CytoplasmicSequence analysisAdd BLAST137
Transmembranei470 – 488HelicalSequence analysisAdd BLAST19

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Postsynaptic cell membrane, Synapse

Pathology & Biotechi

Involvement in diseasei

Myasthenic syndrome, congenital, 2A, slow-channel (CMS2A)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. CMS2A 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:616313
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_000287285L → M in CMS2A. 1 PublicationCorresponds to variant dbSNP:rs137852811EnsemblClinVar.1
Natural variantiVAR_077363289V → 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 Publication1
Natural variantiVAR_000288289V → M in CMS2A. 1 PublicationCorresponds to variant dbSNP:rs137852810EnsemblClinVar.1
Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency (CMS2C)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS2C 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. CMS2C is clinically characterized by early-onset muscle weakness with variable severity.
See also OMIM:616314
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_017494449 – 451Missing in CMS2C; impairs AChR assembly by disrupting a specific interaction between beta and delta subunits. 1 Publication3

Keywords - Diseasei

Congenital myasthenic syndrome, Disease mutation

Organism-specific databases

DisGeNETi1140
GeneReviewsiCHRNB1
MalaCardsiCHRNB1
MIMi616313 phenotype
616314 phenotype
OpenTargetsiENSG00000170175
Orphaneti98913 Postsynaptic congenital myasthenic syndromes
PharmGKBiPA26494

Chemistry databases

ChEMBLiCHEMBL3885508
DrugBankiDB00674 Galantamine

Polymorphism and mutation databases

BioMutaiCHRNB1
DMDMi21903373

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 23Add BLAST23
ChainiPRO_000000031524 – 501Acetylcholine receptor subunit betaAdd BLAST478

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi151 ↔ 165By similarity
Glycosylationi164N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei390Phosphotyrosine; by Tyr-kinasesBy similarity1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiP11230
PaxDbiP11230
PeptideAtlasiP11230
PRIDEiP11230
ProteomicsDBi52725

PTM databases

iPTMnetiP11230
PhosphoSitePlusiP11230

Expressioni

Gene expression databases

BgeeiENSG00000170175 Expressed in 142 organ(s), highest expression level in gastrocnemius
CleanExiHS_CHRNB1
ExpressionAtlasiP11230 baseline and differential
GenevisibleiP11230 HS

Organism-specific databases

HPAiCAB011200
HPA005822

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 Publication

Protein-protein interaction databases

BioGridi107562, 28 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
IntActiP11230, 2 interactors
STRINGi9606.ENSP00000304290

Chemistry databases

BindingDBiP11230

Structurei

3D structure databases

ProteinModelPortaliP11230
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3645 Eukaryota
ENOG410XQGR LUCA
GeneTreeiENSGT00910000144023
HOGENOMiHOG000006757
HOVERGENiHBG003756
InParanoidiP11230
KOiK04812
OMAiFIDGPNR
OrthoDBiEOG091G0R20
PhylomeDBiP11230
TreeFamiTF315605

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

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.iShow all

Isoform 1 (identifier: P11230-1) [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
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
Length:501
Mass (Da):56,698
Last modified:July 11, 2002 - v3
Checksum:i365CBFA795A51394
GO
Isoform 2 (identifier: P11230-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-72: Missing.

Note: No experimental confirmation available.
Show »
Length:429
Mass (Da):49,083
Checksum:iC0A42E7DC9C3A85B
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
I3L1T7I3L1T7_HUMAN
Acetylcholine receptor subunit beta
CHRNB1
380Annotation score:
I3L3Q9I3L3Q9_HUMAN
Acetylcholine receptor subunit beta
CHRNB1
316Annotation score:
I3L4N5I3L4N5_HUMAN
Acetylcholine receptor subunit beta
CHRNB1
158Annotation score:
I3L535I3L535_HUMAN
Acetylcholine receptor subunit beta
CHRNB1
37Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti15A → P in CAA32939 (PubMed:2740233).Curated1
Sequence conflicti210I → N in CAA32939 (PubMed:2740233).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04816932E → G1 PublicationCorresponds to variant dbSNP:rs17856697EnsemblClinVar.1
Natural variantiVAR_070842124D → Y1 PublicationCorresponds to variant dbSNP:rs17856698Ensembl.1
Natural variantiVAR_000287285L → M in CMS2A. 1 PublicationCorresponds to variant dbSNP:rs137852811EnsemblClinVar.1
Natural variantiVAR_077363289V → 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 Publication1
Natural variantiVAR_000288289V → M in CMS2A. 1 PublicationCorresponds to variant dbSNP:rs137852810EnsemblClinVar.1
Natural variantiVAR_017494449 – 451Missing in CMS2C; impairs AChR assembly by disrupting a specific interaction between beta and delta subunits. 1 Publication3

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0566751 – 72Missing in isoform 2. 1 PublicationAdd BLAST72

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
CCDSiCCDS11106.1 [P11230-1]
PIRiS04607
RefSeqiNP_000738.2, NM_000747.2 [P11230-1]
UniGeneiHs.330386

Genome annotation databases

EnsembliENST00000306071; ENSP00000304290; ENSG00000170175 [P11230-1]
ENST00000536404; ENSP00000439209; ENSG00000170175 [P11230-2]
ENST00000639692; ENSP00000492221; ENSG00000283946 [P11230-1]
ENST00000639993; ENSP00000491113; ENSG00000283946 [P11230-2]
GeneIDi1140
KEGGihsa:1140
UCSCiuc002ghb.4 human [P11230-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiACHB_HUMAN
AccessioniPrimary (citable) accession number: P11230
Secondary accession number(s): B7Z5H1, Q8IZ46, Q96FB8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1989
Last sequence update: July 11, 2002
Last modified: September 12, 2018
This is version 202 of the entry and version 3 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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