Reviewed, UniProtKB/Swiss-Prot P11230 (ACHB_HUMAN)

Names and origin

Protein names

Recommended name:
    Acetylcholine receptor subunit beta

Gene names

Name:	CHRNB1
Synonyms:	ACHRB, CHRNB

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › 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	Defects in CHRNB1 are a cause of congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]. SCCMS is the most 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. SCCMS is caused by kinetic abnormalities of the AChR, resulting in prolonged endplate currents and prolonged AChR channel opening episodes. Defects in CHRNB1 are a cause of congenital myasthenic syndrome with acetylcholine receptor deficiency (ACHRDCMS) [MIM:608931]. ACHRDCMS is a post-synaptic congenital myasthenic syndrome. Mutations underlying AChR deficiency cause a 'loss of function' and show recessive inheritance.
Sequence similarities	Belongs to the ligand-gated ionic channel (TC 1.A.9) family. [View classification]

Ontologies

Keywords
Biological process	Ion transport Transport
Cellular component	Cell junction Cell membrane Membrane Postsynaptic cell membrane Synapse
Disease	Congenital myasthenic syndrome Disease mutation
Domain	Signal Transmembrane
Molecular function	Ionic channel Receptor
PTM	Glycoprotein Phosphoprotein
Gene Ontology (GO)
Biological process	behavioral response to nicotine Inferred from mutant phenotype. Source: UniProtKB cation transport Ref.4 Inferred from mutant phenotype. Source: UniProtKB muscle contraction Ref.3 Inferred from mutant phenotype. Source: UniProtKB muscle fiber development Ref.3 Inferred from mutant phenotype. Source: UniProtKB neuromuscular synaptic transmission Ref.3 Inferred from mutant phenotype. Source: UniProtKB postsynaptic membrane organization Ref.3 Inferred from mutant phenotype. Source: UniProtKB regulation of membrane potential Inferred from sequence or structural similarity. Source: UniProtKB signal transduction Ref.4 Inferred from mutant phenotype. Source: UniProtKB synaptic transmission, cholinergic Ref.4 Inferred from mutant phenotype. Source: UniProtKB
Cellular component	cell junction Inferred from electronic annotation. Source: UniProtKB-KW nicotinic acetylcholine-gated receptor-channel complex Ref.4 Inferred from mutant phenotype. Source: UniProtKB postsynaptic membrane Inferred from electronic annotation. Source: InterPro
Molecular function	acetylcholine binding Inferred from sequence or structural similarity. Source: UniProtKB neurotransmitter receptor activity Inferred from electronic annotation. Source: InterPro nicotinic acetylcholine-activated cation-selective channel activity Inferred from sequence or structural similarity. Source: UniProtKB protein binding 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
	Transmembrane	245 – 269	25
	Transmembrane	277 – 295	19
	Transmembrane	311 – 332	22
	Topological domain	333 – 469	137	Cytoplasmic
	Transmembrane	470 – 488	19
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	285	1	L → M in SCCMS.		VAR_000287
	Natural variant	289	1	V → M in SCCMS.		VAR_000288
	Natural variant	449 – 451	3	Missing in ACHRDCMS; 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)
	P11230-1 [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: 2740233] [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: 15489334] [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: 8651643] [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: 8872460] [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: 10562302] [Abstract] Cited for: VARIANT ACHRDCMS 449-GLU--GLU-451 DEL, CHARACTERIZATION OF VARIANT ACHRDCMS 449-GLU--GLU-451 DEL.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBLGenBankDDBJ	X14830 mRNA. Translation: CAA32939.1. BC011371 mRNA. Translation: AAH11371.1.
PIR	S04607.
RefSeq	NP_000738.2.
UniGene	Hs.330386
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	P11230.
PTM databases
PhosphoSite	P11230.
Genome annotation databases
Ensembl	ENSG00000170175. Homo sapiens. [Contig view]
GeneID	1140.
KEGG	hsa:1140.
Organism-specific databases
H-InvDB	HIX0013101.
HGNC	HGNC:1961. CHRNB1.
HPA	CAB011200. HPA005822.
MIM	100710. gene. 601462. phenotype. 608931. phenotype.
Orphanet	590. Myasthenic syndromes, congenital.
PharmGKB	PA26494.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	P11230.
HOVERGEN	P11230.
Gene expression databases
ArrayExpress	P11230.
CleanEx	HS_CHRNB1.
GermOnline	ENSG00000170175. Homo sapiens.
Family and domain databases
InterPro	IPR006029. Neu_channel_TM. IPR006202. Neur_chan_lig_bd. IPR006201. Neur_channel. IPR002394. Nicotinic_acetylcholine_rcpt_N. [Graphical view]
Gene3D	G3DSA:2.70.170.10. Neur_chan_lig_bd. 1 hit.
PANTHER	PTHR18945. Neur_channel. 1 hit.
Pfam	PF02931. Neur_chan_LBD. 1 hit. PF02932. Neur_chan_memb. 1 hit. [Graphical view]
PRINTS	PR00254. NICOTINICR. PR00252. NRIONCHANNEL.
TIGRFAMs	TIGR00860. LIC. 1 hit.
PROSITE	PS00236. NEUROTR_ION_CHANNEL. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
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:	November 25, 2008
This is version 107 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)