CHRNB1 - cholinergic receptor nicotinic beta 1 subunit Gene

Also Known as ACHRB; CHRNB; CMS1D; CMS2A; CMS2C; SCCMS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1140

About CHRNB1

Cytogenetic location: 17p13.1 Genomic coordinates (GRCh38): 17:7,445,061-7,457,710 (from NCBI)

This gene has 8 transcripts (splice variants), 1 gene allele, 256 orthologues, 45 paralogues and is associated with 5 phenotypes. Ubiquitous expression in adrenal (RPKM 6.4), placenta (RPKM 6.0) and 25 other tissues.

Summary

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 acetylcholine binding leading to the opening of an ion-conducting channel across the plasma membrane. Mutations in this gene are associated with slow-channel congenital myasthenic syndrome. [provided by RefSeq, Jul 2008]

CHRNB1 Products (1)

mRNA	Protein	Name
NM_000747.3	NP_000738.2	acetylcholine receptor subunit beta precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
contributes to acetylcholine receptor activity	IMP IMP: Inferred from mutant phenotype	8651643	GOA
enables channel activity	IMP IMP: Inferred from mutant phenotype	8872460	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IDA IDA: Inferred from direct assay	7531341	GOA
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IMP IMP: Inferred from mutant phenotype	7531341	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in behavioral response to nicotine	IMP IMP: Inferred from mutant phenotype	16874522	GOA
involved in monoatomic cation transport	IMP IMP: Inferred from mutant phenotype	8872460	GOA
involved in muscle cell development	IMP IMP: Inferred from mutant phenotype	8651643	GOA
involved in muscle contraction	IMP IMP: Inferred from mutant phenotype	8651643	GOA
involved in nervous system process	IMP IMP: Inferred from mutant phenotype	11104662	GOA
involved in neuromuscular synaptic transmission	IMP IMP: Inferred from mutant phenotype	8651643	GOA
involved in postsynaptic membrane organization	IMP IMP: Inferred from mutant phenotype	8651643	GOA
involved in signal transduction	IMP IMP: Inferred from mutant phenotype	8872460	GOA
involved in synaptic transmission, cholinergic	IMP IMP: Inferred from mutant phenotype	8872460	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of acetylcholine-gated channel complex	IMP IMP: Inferred from mutant phenotype	8872460	GOA
is active in neuromuscular junction	IDA IDA: Inferred from direct assay	7531341	GOA
is active in neuromuscular junction	IMP IMP: Inferred from mutant phenotype	7531341	GOA
located in synapse	IMP IMP: Inferred from mutant phenotype	8872460	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CHRNB1 Protein Structure

Neur_chan_LBD

Neur_chan_memb

0
100
200
300
400
501 a.a.

Protein Preferred Names	Protein Names
acetylcholine receptor subunit beta	acetylcholine receptor, nicotinic, beta 1 (muscle)

CHRNB1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CHRNB1	P11230	ASB6	Homo sapiens	Q9NWX5	Validated Y2H	32296183
Intra	CHRNB1	P11230	ASB6	Homo sapiens	Q9NWX5	Y2H Prey Pooling	32296183
Intra	CHRNB1	P11230	ASB6	Homo sapiens	Q9NWX5	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Myasthenic Syndrome, Congenital, 2a, Slow-Channel	CMS2A Myasthenic Syndrome, Congenital, Postsynaptic Slow-Channel Myasthenic Syndrome, Congenital, Type Iia Sccms Myasthenic Syndrome, Slow-Channel Congenital Slow-Channel Congenital Myasthenic Syndrome Cms Iia Myasthenic Syndrome, Congenital, Slow-Channel Slow Channel Congenital Myasthenic Syndrome Myasthenic Syndrome, Congenital, Type 2a, Slow-Channel Myasthenic Syndromes, Congenital, Slow Channel
Myasthenic Syndrome, Congenital, 2c, Associated With Acetylcholine Receptor Deficiency	Congenital Myasthenic Syndrome 2c CMS2C Congenital Myasthenic Syndrome 2c Associated With Acetylcholine Receptor Deficiency Myasthenic Syndrome, Congenital, Type 2c, Associated With Acetylcholine Receptor Deficiency
Myasthenic Syndrome, Congenital, 1a, Slow-Channel	Congenital Myasthenic Syndrome 1a Congenital Myasthenic Syndrome 2a CMS1A Cms Iia Congenital Myasthenic Syndrome Type Iia Cms2a Myasthenic Syndrome, Congenital, Type Iia, Formerly Cms2a, Formerly Cms Iia, Formerly Congenital Myasthenic Syndrome 1a, Slow-Channel Congenital Myasthenic Syndrome 2a Slow-Channel Congenital Myasthenic Syndrome Post-Synaptic Slow-Channel Myasthenic Syndrome, Congenital, Slow-Channel Sccms Myasthenic Syndrome, Congenital, Type 1a, Slow-Channel Myasthenic Syndrome, Congenital, Postsynaptic Slow-Channel Myasthenic Syndromes, Congenital, Slow Channel
Postsynaptic Congenital Myasthenic Syndromes	Congenital Myasthenic Syndromes, Postsynaptic
Congenital Myasthenic Syndrome	Congenital Myasthenia Congenital Myasthenic Syndromes Cms Myasthenic Syndromes, Congenital Myasthenic Syndromes Congenital Myasthenic Syndrome, Congenital Congenital Myasthenic Syndrome Ib Congenital And Developmental Myasthenia Developmental Myasthenia
Multiple Pterygium Syndrome, Escobar Variant	Multiple Pterygium Syndrome Pterygium Escobar Syndrome EVMPS Pterygium Syndrome Autosomal Recessive Multiple Pterygium Syndrome Pterygium Colli Syndrome Pterygium Universale Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome Escobar Variant Multiple Pterygium Syndrome Multiple Pterygium Syndrome, Nonlethal Type Surfer'S Eye Multiple Pterygium Syndrome Escobar Type Multiple Pterygium Syndrome Nonlethal Type Familial Pterygium Syndrome Pterygium Colli Multiple Pterygium Syndrome, Non-Lethal Type Nonlethal Type Multiple Pterygium Syndrome Pterygium Syndrome, Multiple, Escobar Type Pterygium Of Eye Web Eye
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Adnfle Autosomal Dominant Sleep-Related Hypermotor Epilepsy Enfl Benign Familial Infantile Seizures 6 Benign Familial Infantile Seizures, 6 Nocturnal Frontal Lobe Epilepsy-4 Enfl1 Epilepsy, Nocturnal Frontal Lobe, 1 Epilepsy, Nocturnal Frontal Lobe, Type 1
Neuromuscular Junction Disease	Neuromuscular Junction Diseases
Myasthenic Syndrome, Congenital, 13	Congenital Myasthenic Syndrome 13 CMS13 Cmsta2 Myasthenic Syndrome, Congenital, With Tubular Aggregates 2 Myasthenic Syndrome, Congenital, 13, With Tubular Aggregates Congenital Myasthenic Syndrome 13 With Tubular Aggregates Congenital Myasthenic Syndrome With Tubular Aggregates 2 Myasthenic Syndrome, Congenital, With Tubular Aggregates, 2 Myasthenic Syndrome, Congenital, With Tubular Aggregates, Type 2
Ptosis	Blepharoptosis Drooping Eyelid Droopy Eyelid Ptosis Of Eyelid Paralysis Of Levator Palpebrae Superioris
Myasthenic Syndrome, Congenital, 5	Endplate Acetylcholinesterase Deficiency Congenital Myasthenic Syndrome 5 CMS5 Ead Engel Congenital Myasthenic Syndrome Myasthenic Syndrome, Congenital, Engel Type Cms Ic Congenital Myasthenic Syndrome Type Ic Congenital Myasthenic Syndrome Type Ic, Formerly Cms1c, Formerly Cms Ic, Formerly Congenital Myasthenic Syndrome Engel Type End Plate Acetylcholinesterase Deficiency Synaptic Congenital Myasthenic Syndromes Cms1c Cmse Congenital Myasthenic Syndrome Type 1c End-Plate Acetylcholinesterase Deficiency Myasthenic Syndrome, Congenital, Type 5
Myasthenic Syndrome, Congenital, 14	Congenital Myasthenic Syndrome 14 CMS14 Cmsta3 Myasthenic Syndrome, Congenital, With Tubular Aggregates 3 Myasthenic Syndrome, Congenital, 14, With Tubular Aggregates Congenital Myasthenic Syndrome 14, With Tubular Aggregates Congenital Myasthenic Syndrome With Tubular Aggregates 3 Myasthenic Syndrome, Congenital, With Tubular Aggregates, 3 Myasthenic Syndrome, Congenital, Type 14, With Tubular Aggregates
Distal Arthrogryposis	Arthrogryposis Multiplex Congenita Arthrogryposis Congenital Multiple Arthrogryposis Congenital Arthromyodysplasia Fibrous Ankylosis Of Multiple Joints Guerin-Stern Syndrome Guérin-Stern Syndrome Myodystrophia Fetalis Deformans Otto Syndrome Rocher-Sheldon Syndrome Rossi Syndrome Amc Multiple Congenital Arthrogryposis Arthrogryposis Syndrome Arthrogryposis, Distal Distal Arthrogryposis Syndrome Freeman-Sheldon Syndrome Arthrogryposis, Distal, Type 2b Congenital Multiplex Arthrogryposis Amyoplasia Congenita Congenital Amyoplasia Amc - [Arthrogryposis Multiplex Congenita]
Paramyotonia Congenita Of Von Eulenburg	Paramyotonia Congenita PMC Paralysis Periodica Paramyotonica Eulenburg Disease Myotonia Congenita Intermittens Von Eulenburg Paramyotonia Congenita Paralysis Periodica Paramyotonia Von Eulenberg'S Disease Paramyotonia Congenita Without Cold Paralysis Eulenburg Syndrome Paramyotonia
Myasthenic Syndrome, Congenital, 4c, Associated With Acetylcholine Receptor Deficiency	Congenital Myasthenic Syndrome 4c CMS4C Cms Id Cms1d Congenital Myasthenic Syndrome Type Id Fim1 Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency Myasthenic Syndrome, Congenital, Type Id Cms1d, Formerly Cms Id, Formerly Myasthenia, Familial Infantile, 1, Formerly Fim1, Formerly Congenital Myasthenic Syndrome 4c Associated With Acetylcholine Receptor Deficiency Familial Infantile Myasthenia 1 Cms1e Cms-Achrd Cms Ie Congenital Myasthenic Syndrome Post-Synaptic Associated With Acetylcholine Receptor Deficiency Congenital Myasthenic Syndrome Type 1d Congenital Myasthenic Syndrome Type 1e Congenital Myasthenic Syndrome Type Ie Congenital Myasthenic Syndrome With Facial Dysmorphism Associated With Acetylcholine Receptor Deficiency Myasthenia, Familial Infantile, 1 Myasthenic Syndrome, Congenital, Type 4c, Associated With Acetylcholine Receptor Deficiency Myasthenic Syndrome, Congenital, Ie
Fetal Akinesia Deformation Sequence 1	Fetal Akinesia Deformation Sequence Fads Fetal Akinesia Sequence FADS1 Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia Pena-Shokeir Syndrome Type 1 Fetal Akinesia Deformation Sequence Syndrome Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia Pena-Shokeir Syndrome, Type I Foetal Akinesia Deformation Sequence Syndrome Foetal Akinesia Sequence Fetal Akinesia Deformation Sequence Syndrome 1 Pena-Shokeir Syndrome, Type 1 Pena Shokeir Syndrome, Type 1 Akinesia, Fetal, Deformation Sequence Akinesia, Fetal, Deformation Sequence, Type 1 Pena-Shokeir Syndrome Type I
Tobacco Addiction	Nicotine Dependence Tobacco Addiction, Susceptibility To Nicotine Addiction Tobacco Use Disorder Smoking Habit Nicotine Dependence, Protection Against Nicotine Addiction, Protection From Cigarette Habituation Cigarette Habituation, Susceptibility To Smoking Habit, Susceptibility To Nicotine Dependence, Susceptibility To Nicotine Addiction, Susceptibility To Addiction, Tobacco, Susceptibility To Compulsive Tobacco User Syndrome Tobacco Dependence Tobacco Dependence Syndrome Cigarette Addiction Cigarette Dependence Smoking Addiction Smokers Syndrome
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Generalized Epilepsy With Febrile Seizures Plus	Gefs+ Genetic Epilepsy With Febrile Seizures Plus Generalized Epilepsy With Febrile Seizures-Plus Genetic Epilepsy With Febrile Seizures-Plus Epilepsy, Generalized, With Febrile Seizures Plus

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02674	CHRNB1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown