• Gene id: 1140

Gene Summary

• Gene Symbol: CHRNB1   Gene   UCSC   Ensembl
• Aliases: ACHRB, CHRNB, CMS1D, CMS2A, CMS2C, SCCMS
• Gene name: cholinergic receptor nicotinic beta 1 subunit
• Alternate names: acetylcholine receptor subunit beta, acetylcholine receptor, nicotinic, beta 1 (muscle), cholinergic receptor, nicotinic beta 1, cholinergic receptor, nicotinic, beta 1 (muscle), cholinergic receptor, nicotinic, beta polypeptide 1 (muscle),
• Gene location: 17p13.1 (7445060: 7457709)     Exons: 11     NC_000017.11
• Gene summary(Entrez): The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor changes conformation upon acety
• OMIM: 100710

Protein Summary

• Protein general information: P11230  
  • Name: Acetylcholine receptor subunit beta
  • Length: 501  
  • Mass: 56698
• Sequence:

  MTPGALLMLLGALGAPLAPGVRGSEAEGRLREKLFSGYDSSVRPAREVGDRVRVSVGLILAQLISLNEKDEEMST
  KVYLDLEWTDYRLSWDPAEHDGIDSLRITAESVWLPDVVLLNNNDGNFDVALDISVVVSSDGSVRWQPPGIYRSS
  CSIQVTYFPFDWQNCTMVFSSYSYDSSEVSLQTGLGPDGQGHQEIHIHEGTFIENGQWEIIHKPSRLIQPPGDPR
  GGREGQRQEVIFYLIIRRKPLFYLVNVIAPCILITLLAIFVFYLPPDAGEKMGLSIFALLTLTVFLLLLADKVPE
  TSLSVPIIIKYLMFTMVLVTFSVILSVVVLNLHHRSPHTHQMPLWVRQIFIHKLPLYLRLKRPKPERDLMPEPPH
  CSSPGSGWGRGTDEYFIRKPPSDFLFPKPNRFQPELSAPDLRRFIDGPNRAVALLPELREVVSSISYIARQLQEQ
  EDHDALKEDWQFVAMVVDRLFLWTFIIFTSVGTLVIFLDATYHLPPPDPFP

• Structural information:
  • Interpro: IPR006202  IPR036734  IPR006201  IPR036719  IPR006029   IPR018000  IPR002394  
  • Prosite: PS00236
  • STRING: ENSP00000304290
• Other Databases: GeneCards:  CHRNB1  Malacards:  CHRNB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005892	acetylcholine-gated channel complex	IBA	cellular component
GO:0007165	signal transduction	IBA	biological process
GO:0007268	chemical synaptic transmission	IBA	biological process
GO:0042166	acetylcholine binding	IBA	contributes to
GO:0043005	neuron projection	IBA	cellular component
GO:0050877	nervous system process	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0007271	synaptic transmission, cholinergic	IBA	biological process
GO:0007274	neuromuscular synaptic transmission	IBA	biological process
GO:0015464	acetylcholine receptor activity	IBA	contributes to
GO:0030594	neurotransmitter receptor activity	IBA	molecular function
GO:0034220	ion transmembrane transport	IBA	biological process
GO:0035094	response to nicotine	IBA	biological process
GO:0042391	regulation of membrane potential	IBA	biological process
GO:0045202	synapse	IBA	cellular component
GO:0005230	extracellular ligand-gated ion channel activity	IEA	molecular function
GO:0022848	acetylcholine-gated cation-selective channel activity	IEA	molecular function
GO:0004888	transmembrane signaling receptor activity	IEA	molecular function
GO:0005216	ion channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0022848	acetylcholine-gated cation-selective channel activity	IEA	molecular function
GO:0015276	ligand-gated ion channel activity	IEA	molecular function
GO:0006812	cation transport	IEA	biological process
GO:0005892	acetylcholine-gated channel complex	IEA	cellular component
GO:0042166	acetylcholine binding	IEA	molecular function
GO:0022848	acetylcholine-gated cation-selective channel activity	IEA	molecular function
GO:0005892	acetylcholine-gated channel complex	IEA	cellular component
GO:0003009	skeletal muscle contraction	IEA	biological process
GO:0099060	integral component of postsynaptic specialization membrane	IEA	cellular component
GO:0042391	regulation of membrane potential	IEA	biological process
GO:0031594	neuromuscular junction	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0060078	regulation of postsynaptic membrane potential	IEA	biological process
GO:0060078	regulation of postsynaptic membrane potential	IEA	biological process
GO:0060078	regulation of postsynaptic membrane potential	IEA	biological process
GO:0060078	regulation of postsynaptic membrane potential	IEA	biological process
GO:0060078	regulation of postsynaptic membrane potential	IEA	biological process
GO:0060078	regulation of postsynaptic membrane potential	IEA	biological process
GO:0060078	regulation of postsynaptic membrane potential	IEA	biological process
GO:0050877	nervous system process	IMP	biological process
GO:0015267	channel activity	IMP	molecular function
GO:0006812	cation transport	IMP	biological process
GO:0005892	acetylcholine-gated channel complex	IMP	cellular component
GO:0001941	postsynaptic membrane organization	IMP	biological process
GO:0045202	synapse	IMP	cellular component
GO:0015464	acetylcholine receptor activity	IMP	contributes to
GO:0007274	neuromuscular synaptic transmission	IMP	biological process
GO:0005887	integral component of plasma membrane	NAS	cellular component
GO:0042166	acetylcholine binding	ISS	molecular function
GO:0035095	behavioral response to nicotine	IMP	biological process
GO:0015276	ligand-gated ion channel activity	ISS	molecular function
GO:0007165	signal transduction	IMP	biological process
GO:0022848	acetylcholine-gated cation-selective channel activity	ISS	contributes to
GO:0048747	muscle fiber development	IMP	biological process
GO:0042391	regulation of membrane potential	ISS	biological process
GO:0015464	acetylcholine receptor activity	IMP	contributes to
GO:0007271	synaptic transmission, cholinergic	IMP	biological process
GO:0006936	muscle contraction	IMP	biological process
GO:1904315	transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IMP	molecular function
GO:1904315	transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IMP	molecular function
GO:1904315	transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IDA	molecular function
GO:0031594	neuromuscular junction	IMP	cellular component
GO:0031594	neuromuscular junction	IMP	cellular component
GO:0031594	neuromuscular junction	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction

Diseases

Associated diseases	References
Congenital myasthenic syndrome	KEGG:H00770
Congenital myasthenic syndrome	KEGG:H00770
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq