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P11230 (ACHB_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 168. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Acetylcholine receptor subunit beta
Gene names
Name:CHRNB1
Synonyms:ACHRB, CHRNB
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length501 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

Pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in mature muscle) chains.

Subcellular location

Cell junctionsynapsepostsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Involvement in disease

Myasthenic syndrome, congenital, slow-channel (SCCMS) [MIM:601462]: A 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. Congenital myasthenic syndrome slow-channel type is caused by kinetic abnormalities of the AChR, resulting in prolonged endplate currents and prolonged AChR channel opening episodes.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.3 Ref.4

Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (CMS-ACHRD) [MIM:608931]: A post-synaptic congenital myasthenic syndrome. Congenital myasthenic syndromes (CMS) are inherited disorders of neuromuscular transmission that stem from mutations in presynaptic, synaptic, or postsynaptic proteins.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5

Sequence similarities

Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Beta-1/CHRNB1 sub-subfamily. [View classification]

Ontologies

Keywords
   Biological processIon transport
Transport
   Cellular componentCell junction
Cell membrane
Membrane
Postsynaptic cell membrane
Synapse
   Coding sequence diversityPolymorphism
   DiseaseCongenital myasthenic syndrome
Disease mutation
   DomainSignal
Transmembrane
Transmembrane helix
   Molecular functionIon channel
Ligand-gated ion channel
Receptor
   PTMDisulfide bond
Glycoprotein
Phosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processbehavioral response to nicotine

Inferred from mutant phenotype PubMed 16874522. Source: UniProtKB

cation transport

Inferred from mutant phenotype Ref.4. Source: UniProtKB

ion transmembrane transport

Inferred from sequence or structural similarity. Source: GOC

muscle contraction

Inferred from mutant phenotype Ref.3. Source: UniProtKB

muscle fiber development

Inferred from mutant phenotype Ref.3. Source: UniProtKB

neurological system process

Inferred from mutant phenotype PubMed 11104662. Source: UniProtKB

neuromuscular synaptic transmission

Inferred from mutant phenotype Ref.3. Source: UniProtKB

postsynaptic membrane organization

Inferred from mutant phenotype Ref.3. Source: UniProtKB

regulation of membrane potential

Inferred from sequence or structural similarity. Source: UniProtKB

signal transduction

Inferred from mutant phenotype Ref.4. Source: UniProtKB

synaptic transmission, cholinergic

Inferred from mutant phenotype Ref.4. Source: UniProtKB

transmembrane transport

Inferred from mutant phenotype Ref.4. Source: GOC

   Cellular_componentacetylcholine-gated channel complex

Inferred from mutant phenotype Ref.4. Source: UniProtKB

cell junction

Inferred from electronic annotation. Source: UniProtKB-KW

integral component of plasma membrane

Non-traceable author statement Ref.4. Source: UniProtKB

postsynaptic membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

synapse

Inferred from mutant phenotype Ref.4. Source: UniProtKB

   Molecular_functionacetylcholine binding

Inferred from sequence or structural similarity. Source: UniProtKB

acetylcholine-activated cation-selective channel activity

Inferred from electronic annotation. Source: Ensembl

channel activity

Inferred from mutant phenotype Ref.4. Source: UniProtKB

ligand-gated ion channel activity

Inferred from sequence or structural similarity. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2323
Chain24 – 501478Acetylcholine receptor subunit beta
PRO_0000000315

Regions

Topological domain24 – 244221Extracellular Potential
Transmembrane245 – 26925Helical; Potential
Transmembrane277 – 29519Helical; Potential
Transmembrane311 – 33222Helical; Potential
Topological domain333 – 469137Cytoplasmic Potential
Transmembrane470 – 48819Helical; Potential

Amino acid modifications

Modified residue3901Phosphotyrosine; by Tyr-kinases By similarity
Glycosylation1641N-linked (GlcNAc...) Potential
Disulfide bond151 ↔ 165 By similarity

Natural variations

Natural variant321E → G. Ref.2
Corresponds to variant rs17856697 [ dbSNP | Ensembl ].
VAR_048169
Natural variant1241D → Y. Ref.2
Corresponds to variant rs17856698 [ dbSNP | Ensembl ].
VAR_070842
Natural variant2851L → M in SCCMS. Ref.3
VAR_000287
Natural variant2891V → M in SCCMS. Ref.4
VAR_000288
Natural variant449 – 4513Missing in CMS-ACHRD; impairs AChR assembly by disrupting a specific interaction between beta and delta subunits.
VAR_017494

Experimental info

Sequence conflict151A → P in CAA32939. Ref.1
Sequence conflict2101I → N in CAA32939. Ref.1

Sequences

Sequence LengthMass (Da)Tools
P11230 [UniParc].

Last modified July 11, 2002. Version 3.
Checksum: 365CBFA795A51394

FASTA50156,698
        10         20         30         40         50         60 
MTPGALLMLL GALGAPLAPG VRGSEAEGRL REKLFSGYDS SVRPAREVGD RVRVSVGLIL 

        70         80         90        100        110        120 
AQLISLNEKD EEMSTKVYLD LEWTDYRLSW DPAEHDGIDS LRITAESVWL PDVVLLNNND 

       130        140        150        160        170        180 
GNFDVALDIS VVVSSDGSVR WQPPGIYRSS CSIQVTYFPF DWQNCTMVFS SYSYDSSEVS 

       190        200        210        220        230        240 
LQTGLGPDGQ GHQEIHIHEG TFIENGQWEI IHKPSRLIQP PGDPRGGREG QRQEVIFYLI 

       250        260        270        280        290        300 
IRRKPLFYLV NVIAPCILIT LLAIFVFYLP PDAGEKMGLS IFALLTLTVF LLLLADKVPE 

       310        320        330        340        350        360 
TSLSVPIIIK YLMFTMVLVT FSVILSVVVL NLHHRSPHTH QMPLWVRQIF IHKLPLYLRL 

       370        380        390        400        410        420 
KRPKPERDLM PEPPHCSSPG SGWGRGTDEY FIRKPPSDFL FPKPNRFQPE LSAPDLRRFI 

       430        440        450        460        470        480 
DGPNRAVALL PELREVVSSI SYIARQLQEQ EDHDALKEDW QFVAMVVDRL FLWTFIIFTS 

       490        500 
VGTLVIFLDA TYHLPPPDPF P 

« Hide

References

« Hide 'large scale' references
[1]"Nucleotide sequence of human muscle acetylcholine receptor beta-subunit."
Beeson D.M.W., Brydson M., Newsom-Davis J.
Nucleic Acids Res. 17:4391-4391(1989) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS GLY-32 AND TYR-124.
Tissue: Eye and Muscle.
[3]"A beta-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome."
Gomez C.M., Maselli R., Gammack J., Lasalde J., Tamamizu S., Cornblath D.R., Lehar M., McNamee M., Kuncl R.W.
Ann. Neurol. 39:712-723(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SCCMS MET-285.
[4]"New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome."
Engel A.G., Ohno K., Milone M., Wang H.-L., Nakano S., Bouzat C., Pruitt J.N. II, Hutchinson D.O., Brengman J.M., Bren N., Sieb J.P., Sine S.M.
Hum. Mol. Genet. 5:1217-1227(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SCCMS MET-289.
[5]"Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly."
Quiram P.A., Ohno K., Milone M., Patterson M.C., Pruitt J.N. II, Brengman J.M., Sine S.M., Engel A.G.
J. Clin. Invest. 104:1403-1410(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMS-ACHRD 449-GLU--GLU-451 DEL, CHARACTERIZATION OF VARIANT CMS-ACHRD 449-GLU--GLU-451 DEL.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X14830 mRNA. Translation: CAA32939.1.
BC011371 mRNA. Translation: AAH11371.1.
BC023553 mRNA. Translation: AAH23553.1.
CCDSCCDS11106.1.
PIRS04607.
RefSeqNP_000738.2. NM_000747.2.
UniGeneHs.330386.

3D structure databases

ProteinModelPortalP11230.
SMRP11230. Positions 24-341, 431-500.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107562. 1 interaction.
IntActP11230. 1 interaction.
MINTMINT-3007602.
STRING9606.ENSP00000304290.

Chemistry

BindingDBP11230.
ChEMBLCHEMBL2111384.
GuidetoPHARMACOLOGY471.

Protein family/group databases

TCDB1.A.9.1.1. the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family.

PTM databases

PhosphoSiteP11230.

Polymorphism databases

DMDM21903373.

Proteomic databases

PaxDbP11230.
PRIDEP11230.

Protocols and materials databases

DNASU1140.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000306071; ENSP00000304290; ENSG00000170175.
GeneID1140.
KEGGhsa:1140.
UCSCuc002ghb.3. human.

Organism-specific databases

CTD1140.
GeneCardsGC17P007348.
GeneReviewsCHRNB1.
HGNCHGNC:1961. CHRNB1.
HPACAB011200.
HPA005822.
MIM100710. gene.
601462. phenotype.
608931. phenotype.
neXtProtNX_P11230.
Orphanet98913. Postsynaptic congenital myasthenic syndromes.
PharmGKBPA26494.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG243276.
HOGENOMHOG000006757.
HOVERGENHBG003756.
InParanoidP11230.
KOK04812.
OMAFIDGPNR.
OrthoDBEOG70ZZN7.
PhylomeDBP11230.
TreeFamTF315605.

Gene expression databases

ArrayExpressP11230.
BgeeP11230.
CleanExHS_CHRNB1.
GenevestigatorP11230.

Family and domain databases

Gene3D1.20.120.370. 2 hits.
2.70.170.10. 1 hit.
InterProIPR027361. Acetylcholine_rcpt_TM.
IPR006202. Neur_chan_lig-bd.
IPR006201. Neur_channel.
IPR006029. Neurotrans-gated_channel_TM.
IPR018000. Neurotransmitter_ion_chnl_CS.
IPR002394. Nicotinic_acetylcholine_rcpt.
[Graphical view]
PANTHERPTHR18945. PTHR18945. 1 hit.
PfamPF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view]
PRINTSPR00254. NICOTINICR.
PR00252. NRIONCHANNEL.
SUPFAMSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsTIGR00860. LIC. 1 hit.
PROSITEPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiCHRNB1.
GenomeRNAi1140.
NextBio4744.
PROP11230.
SOURCESearch...

Entry information

Entry nameACHB_HUMAN
AccessionPrimary (citable) accession number: P11230
Secondary accession number(s): Q8IZ46, Q96FB8
Entry history
Integrated into UniProtKB/Swiss-Prot: July 1, 1989
Last sequence update: July 11, 2002
Last modified: July 9, 2014
This is version 168 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM