P11230 (ACHB_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Acetylcholine receptor subunit beta

Gene names

Name:	CHRNB1
Synonyms:	ACHRB, CHRNB

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	501 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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 junction › synapse › postsynaptic 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 process	Ion transport Transport
Cellular component	Cell junction Cell membrane Membrane Postsynaptic cell membrane Synapse
Coding sequence diversity	Polymorphism
Disease	Congenital myasthenic syndrome Disease mutation
Domain	Signal Transmembrane Transmembrane helix
Molecular function	Ion channel Ligand-gated ion channel Receptor
PTM	Disulfide bond Glycoprotein Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	behavioral response to nicotine Inferred from mutant phenotype PubMed 16874522. Source: UniProtKB cation transport Inferred from mutant phenotype Ref.4. Source: UniProtKB muscle contraction Inferred from mutant phenotype Ref.3. Source: UniProtKB muscle fiber development Inferred from mutant phenotype Ref.3. 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
Cellular_component	acetylcholine-gated channel complex Inferred from mutant phenotype Ref.4. Source: UniProtKB cell junction Inferred from electronic annotation. Source: UniProtKB-KW postsynaptic membrane Inferred from electronic annotation. Source: UniProtKB-SubCell synapse Inferred from mutant phenotype Ref.4. Source: UniProtKB
Molecular_function	acetylcholine binding Inferred from sequence or structural similarity. Source: UniProtKB acetylcholine-activated cation-selective channel activity Inferred from electronic annotation. Source: Compara ligand-gated ion channel activity Inferred from sequence or structural similarity. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 23	23
	Chain	24 – 501	478	Acetylcholine receptor subunit beta		PRO_0000000315
Regions
	Topological domain	24 – 244	221	Extracellular Potential
	Transmembrane	245 – 269	25	Helical; Potential
	Transmembrane	277 – 295	19	Helical; Potential
	Transmembrane	311 – 332	22	Helical; Potential
	Topological domain	333 – 469	137	Cytoplasmic Potential
	Transmembrane	470 – 488	19	Helical; Potential
Amino acid modifications
	Modified residue	390	1	Phosphotyrosine; by Tyr-kinases By similarity
	Glycosylation	164	1	N-linked (GlcNAc...) Potential
	Disulfide bond	151 ↔ 165		By similarity
Natural variations
	Natural variant	32	1	E → G. Corresponds to variant rs17856697 [ dbSNP | Ensembl ].		VAR_048169
	Natural variant	285	1	L → M in SCCMS. Ref.3		VAR_000287
	Natural variant	289	1	V → M in SCCMS. Ref.4		VAR_000288
	Natural variant	449 – 451	3	Missing in CMS-ACHRD; impairs AChR assembly by disrupting a specific interaction between beta and delta subunits.		VAR_017494
Experimental info
	Sequence conflict	15	1	A → P in CAA32939. Ref.1
	Sequence conflict	210	1	I → N in CAA32939. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	P11230 [UniParc]. Last modified July 11, 2002. Version 3. Checksum: 365CBFA795A51394	FASTA	501	56,698
	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

References

	« Hide 'large scale' referencesShow '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]. Tissue: Eye.
[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.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	X14830 mRNA. Translation: CAA32939.1. BC011371 mRNA. Translation: AAH11371.1.
IPI	IPI00298986.
PIR	S04607.
RefSeq	NP_000738.2. NM_000747.2.
UniGene	Hs.330386.
3D structure databases
ProteinModelPortal	P11230.
ModBase	Search...
Protein-protein interaction databases
IntAct	P11230. 1 interaction.
STRING	9606.ENSP00000304290.
PTM databases
PhosphoSite	P11230.
Polymorphism databases
DMDM	21903373.
Proteomic databases
PaxDb	P11230.
PRIDE	P11230.
Protocols and materials databases
DNASU	1140.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000306071; ENSP00000304290; ENSG00000170175.
GeneID	1140.
KEGG	hsa:1140.
UCSC	uc002ghb.3. human.
Organism-specific databases
CTD	1140.
GeneCards	GC17P007348.
HGNC	HGNC:1961. CHRNB1.
HPA	CAB011200. HPA005822.
MIM	100710. gene. 601462. phenotype. 608931. phenotype.
neXtProt	NX_P11230.
Orphanet	98913. Postsynaptic congenital myasthenic syndromes.
PharmGKB	PA26494.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG243276.
HOGENOM	HOG000006757.
HOVERGEN	HBG003756.
InParanoid	P11230.
KO	K04812.
OMA	FIDGPNR.
OrthoDB	EOG4DFPNC.
PhylomeDB	P11230.
Gene expression databases
ArrayExpress	P11230.
Bgee	P11230.
CleanEx	HS_CHRNB1.
Genevestigator	P11230.
GermOnline	ENSG00000170175. Homo sapiens.
Family and domain databases
Gene3D	2.70.170.10. 1 hit.
InterPro	IPR006202. Neur_chan_lig-bd. IPR006201. Neur_channel. IPR006029. Neurotrans-gated_channel_TM. IPR018000. Neurotransmitter_ion_chnl_CS. IPR002394. Nicotinic_acetylcholine_rcpt. [Graphical view]
PANTHER	PTHR18945. PTHR18945. 1 hit.
Pfam	PF02931. Neur_chan_LBD. 1 hit. PF02932. Neur_chan_memb. 1 hit. [Graphical view]
PRINTS	PR00254. NICOTINICR. PR00252. NRIONCHANNEL.
SUPFAM	SSF90112. Neu_channel_TM. 1 hit. SSF63712. Neur_chan_LBD. 1 hit.
TIGRFAMs	TIGR00860. LIC. 1 hit.
PROSITE	PS00236. NEUROTR_ION_CHANNEL. 1 hit. [Graphical view]
ProtoNet	Search...
Other
BindingDB	P11230.
ChEMBL	CHEMBL3355.
GenomeRNAi	1140.
NextBio	4744.
SOURCE	Search...

Entry information

Entry name

ACHB_HUMAN

Accession

Primary (citable) accession number: P11230
Secondary accession number(s): Q96FB8

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 1, 1989
Last sequence update:	July 11, 2002
Last modified:	May 1, 2013
This is version 155 of the entry and version 3 of the sequence. [Complete history]

Entry status

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.