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Protein

Acetylcholine receptor subunit beta

Gene

CHRNB1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

  • acetylcholine binding Source: UniProtKB
  • acetylcholine-gated cation-selective channel activity Source: Ensembl
  • channel activity Source: UniProtKB
  • ligand-gated ion channel activity Source: UniProtKB

GO - Biological processi

  • behavioral response to nicotine Source: UniProtKB
  • cation transmembrane transport Source: GO_Central
  • cation transport Source: UniProtKB
  • muscle contraction Source: UniProtKB
  • muscle fiber development 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 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.

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:rs137852811Ensembl.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:rs137852810Ensembl.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

ChEMBLiCHEMBL1907588.
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.

PTM databases

iPTMnetiP11230.
PhosphoSitePlusiP11230.

Expressioni

Gene expression databases

BgeeiENSG00000170175.
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.
IntActiP11230. 1 interactor.
MINTiMINT-3007602.
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.
GeneTreeiENSGT00760000118930.
HOGENOMiHOG000006757.
HOVERGENiHBG003756.
InParanoidiP11230.
KOiK04812.
OMAiFIDGPNR.
OrthoDBiEOG091G0R20.
PhylomeDBiP11230.
TreeFamiTF315605.

Family and domain databases

Gene3Di1.20.58.390. 1 hit.
2.70.170.10. 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

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

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:rs17856697Ensembl.1
Natural variantiVAR_070842124D → Y1 PublicationCorresponds to variant dbSNP:rs17856698Ensembl.1
Natural variantiVAR_000287285L → M in CMS2A. 1 PublicationCorresponds to variant dbSNP:rs137852811Ensembl.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:rs137852810Ensembl.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: October 25, 2017
This is version 198 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

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families