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P11230

- ACHB_HUMAN

UniProt

P11230 - ACHB_HUMAN

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Protein

Acetylcholine receptor subunit beta

Gene
CHRNB1, ACHRB, CHRNB
Organism
Homo sapiens (Human)
Status
Reviewed - 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.

GO - Molecular functioni

  1. acetylcholine-activated cation-selective channel activity Source: Ensembl
  2. acetylcholine binding Source: UniProtKB
  3. channel activity Source: UniProtKB
  4. ligand-gated ion channel activity Source: UniProtKB

GO - Biological processi

  1. behavioral response to nicotine Source: UniProtKB
  2. cation transport Source: UniProtKB
  3. ion transmembrane transport Source: GOC
  4. muscle contraction Source: UniProtKB
  5. muscle fiber development Source: UniProtKB
  6. neurological system process Source: UniProtKB
  7. neuromuscular synaptic transmission Source: UniProtKB
  8. postsynaptic membrane organization Source: UniProtKB
  9. regulation of membrane potential Source: UniProtKB
  10. signal transduction Source: UniProtKB
  11. synaptic transmission, cholinergic Source: UniProtKB
  12. transmembrane transport Source: GOC
Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Ligand-gated ion channel, Receptor

Keywords - Biological processi

Ion 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
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:1961. CHRNB1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini24 – 244221Extracellular Reviewed predictionAdd
BLAST
Transmembranei245 – 26925Helical; Reviewed predictionAdd
BLAST
Transmembranei277 – 29519Helical; Reviewed predictionAdd
BLAST
Transmembranei311 – 33222Helical; Reviewed predictionAdd
BLAST
Topological domaini333 – 469137Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei470 – 48819Helical; Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. acetylcholine-gated channel complex Source: UniProtKB
  2. cell junction Source: UniProtKB-KW
  3. integral component of plasma membrane Source: UniProtKB
  4. postsynaptic membrane Source: UniProtKB-SubCell
  5. synapse Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

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

Pathology & Biotechi

Involvement in diseasei

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.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti285 – 2851L → M in SCCMS. 1 Publication
VAR_000287
Natural varianti289 – 2891V → M in SCCMS. 1 Publication
VAR_000288
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.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti449 – 4513Missing in CMS-ACHRD; impairs AChR assembly by disrupting a specific interaction between beta and delta subunits.
VAR_017494

Keywords - Diseasei

Congenital myasthenic syndrome, Disease mutation

Organism-specific databases

MIMi601462. phenotype.
608931. phenotype.
Orphaneti98913. Postsynaptic congenital myasthenic syndromes.
PharmGKBiPA26494.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2323Add
BLAST
Chaini24 – 501478Acetylcholine receptor subunit betaPRO_0000000315Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi151 ↔ 165 By similarity
Glycosylationi164 – 1641N-linked (GlcNAc...) Reviewed prediction
Modified residuei390 – 3901Phosphotyrosine; by Tyr-kinases By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiP11230.
PRIDEiP11230.

PTM databases

PhosphoSiteiP11230.

Expressioni

Gene expression databases

ArrayExpressiP11230.
BgeeiP11230.
CleanExiHS_CHRNB1.
GenevestigatoriP11230.

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.

Protein-protein interaction databases

BioGridi107562. 1 interaction.
IntActiP11230. 1 interaction.
MINTiMINT-3007602.
STRINGi9606.ENSP00000304290.

Structurei

3D structure databases

ProteinModelPortaliP11230.
SMRiP11230. Positions 24-341, 431-500.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG243276.
HOGENOMiHOG000006757.
HOVERGENiHBG003756.
InParanoidiP11230.
KOiK04812.
OMAiFIDGPNR.
OrthoDBiEOG70ZZN7.
PhylomeDBiP11230.
TreeFamiTF315605.

Family and domain databases

Gene3Di1.20.120.370. 2 hits.
2.70.170.10. 1 hit.
InterProiIPR027361. 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]
PANTHERiPTHR18945. PTHR18945. 1 hit.
PfamiPF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view]
PRINTSiPR00254. NICOTINICR.
PR00252. NRIONCHANNEL.
SUPFAMiSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsiTIGR00860. LIC. 1 hit.
PROSITEiPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

P11230-1 [UniParc]FASTAAdd to Basket

« Hide

MTPGALLMLL GALGAPLAPG VRGSEAEGRL REKLFSGYDS SVRPAREVGD    50
RVRVSVGLIL AQLISLNEKD EEMSTKVYLD LEWTDYRLSW DPAEHDGIDS 100
LRITAESVWL PDVVLLNNND GNFDVALDIS VVVSSDGSVR WQPPGIYRSS 150
CSIQVTYFPF DWQNCTMVFS SYSYDSSEVS LQTGLGPDGQ GHQEIHIHEG 200
TFIENGQWEI IHKPSRLIQP PGDPRGGREG QRQEVIFYLI IRRKPLFYLV 250
NVIAPCILIT LLAIFVFYLP PDAGEKMGLS IFALLTLTVF LLLLADKVPE 300
TSLSVPIIIK YLMFTMVLVT FSVILSVVVL NLHHRSPHTH QMPLWVRQIF 350
IHKLPLYLRL KRPKPERDLM PEPPHCSSPG SGWGRGTDEY FIRKPPSDFL 400
FPKPNRFQPE LSAPDLRRFI DGPNRAVALL PELREVVSSI SYIARQLQEQ 450
EDHDALKEDW QFVAMVVDRL FLWTFIIFTS VGTLVIFLDA TYHLPPPDPF 500
P 501
Length:501
Mass (Da):56,698
Last modified:July 11, 2002 - v3
Checksum:i365CBFA795A51394
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti32 – 321E → G.1 Publication
Corresponds to variant rs17856697 [ dbSNP | Ensembl ].
VAR_048169
Natural varianti124 – 1241D → Y.1 Publication
Corresponds to variant rs17856698 [ dbSNP | Ensembl ].
VAR_070842
Natural varianti285 – 2851L → M in SCCMS. 1 Publication
VAR_000287
Natural varianti289 – 2891V → M in SCCMS. 1 Publication
VAR_000288
Natural varianti449 – 4513Missing in CMS-ACHRD; impairs AChR assembly by disrupting a specific interaction between beta and delta subunits.
VAR_017494

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti15 – 151A → P in CAA32939. 1 Publication
Sequence conflicti210 – 2101I → N in CAA32939. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X14830 mRNA. Translation: CAA32939.1.
BC011371 mRNA. Translation: AAH11371.1.
BC023553 mRNA. Translation: AAH23553.1.
CCDSiCCDS11106.1.
PIRiS04607.
RefSeqiNP_000738.2. NM_000747.2.
UniGeneiHs.330386.

Genome annotation databases

EnsembliENST00000306071; ENSP00000304290; ENSG00000170175.
GeneIDi1140.
KEGGihsa:1140.
UCSCiuc002ghb.3. human.

Polymorphism databases

DMDMi21903373.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X14830 mRNA. Translation: CAA32939.1 .
BC011371 mRNA. Translation: AAH11371.1 .
BC023553 mRNA. Translation: AAH23553.1 .
CCDSi CCDS11106.1.
PIRi S04607.
RefSeqi NP_000738.2. NM_000747.2.
UniGenei Hs.330386.

3D structure databases

ProteinModelPortali P11230.
SMRi P11230. Positions 24-341, 431-500.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107562. 1 interaction.
IntActi P11230. 1 interaction.
MINTi MINT-3007602.
STRINGi 9606.ENSP00000304290.

Chemistry

BindingDBi P11230.
ChEMBLi CHEMBL2111384.
GuidetoPHARMACOLOGYi 471.

Protein family/group databases

TCDBi 1.A.9.1.1. the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family.

PTM databases

PhosphoSitei P11230.

Polymorphism databases

DMDMi 21903373.

Proteomic databases

PaxDbi P11230.
PRIDEi P11230.

Protocols and materials databases

DNASUi 1140.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000306071 ; ENSP00000304290 ; ENSG00000170175 .
GeneIDi 1140.
KEGGi hsa:1140.
UCSCi uc002ghb.3. human.

Organism-specific databases

CTDi 1140.
GeneCardsi GC17P007348.
GeneReviewsi CHRNB1.
HGNCi HGNC:1961. CHRNB1.
HPAi CAB011200.
HPA005822.
MIMi 100710. gene.
601462. phenotype.
608931. phenotype.
neXtProti NX_P11230.
Orphaneti 98913. Postsynaptic congenital myasthenic syndromes.
PharmGKBi PA26494.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG243276.
HOGENOMi HOG000006757.
HOVERGENi HBG003756.
InParanoidi P11230.
KOi K04812.
OMAi FIDGPNR.
OrthoDBi EOG70ZZN7.
PhylomeDBi P11230.
TreeFami TF315605.

Miscellaneous databases

GeneWikii CHRNB1.
GenomeRNAii 1140.
NextBioi 4744.
PROi P11230.
SOURCEi Search...

Gene expression databases

ArrayExpressi P11230.
Bgeei P11230.
CleanExi HS_CHRNB1.
Genevestigatori P11230.

Family and domain databases

Gene3Di 1.20.120.370. 2 hits.
2.70.170.10. 1 hit.
InterProi IPR027361. 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 ]
PANTHERi PTHR18945. PTHR18945. 1 hit.
Pfami PF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view ]
PRINTSi PR00254. NICOTINICR.
PR00252. NRIONCHANNEL.
SUPFAMi SSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsi TIGR00860. LIC. 1 hit.
PROSITEi PS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.

Entry informationi

Entry nameiACHB_HUMAN
AccessioniPrimary (citable) accession number: P11230
Secondary accession number(s): Q8IZ46, Q96FB8
Entry historyi
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 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

External Data

Dasty 3

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