CHRNA1 - cholinergic receptor nicotinic alpha 1 subunit Gene

Also Known as ACHRA; ACHRD; CHRNA; CMS1A; CMS1B; CMS2A; FCCMS; SCCMS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1134

About CHRNA1

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:174,747,592-174,764,472 (from NCBI)

This gene has 9 transcripts (splice variants), 259 orthologues, 45 paralogues and is associated with 6 phenotypes. Biased expression in prostate (RPKM 1.5), colon (RPKM 0.5) and 9 other tissues.

Summary

The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha subunits and 1 each of the beta, gamma, and delta subunits. This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2012]

CHRNA1 Products (2)

mRNA	Protein	Name
NM_000079.4	NP_000070.1	acetylcholine receptor subunit alpha isoform b precursor
NM_001039523.3	NP_001034612.1	acetylcholine receptor subunit alpha isoform a precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables acetylcholine-gated monoatomic cation-selective channel activity	IMP IMP: Inferred from mutant phenotype	9221765	GOA
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IDA IDA: Inferred from direct assay	9221765	GOA
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IMP IMP: Inferred from mutant phenotype	9221765	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in muscle cell cellular homeostasis	IMP IMP: Inferred from mutant phenotype	8872460	GOA
involved in musculoskeletal movement	IMP IMP: Inferred from mutant phenotype	18252226	GOA
acts upstream of or within neuromuscular junction development	IMP IMP: Inferred from mutant phenotype	9221765	GOA
involved in neuromuscular process	IMP IMP: Inferred from mutant phenotype	9546329	GOA
acts upstream of or within neuromuscular synaptic transmission	IMP IMP: Inferred from mutant phenotype	9221765	GOA
involved in neuron cellular homeostasis	IMP IMP: Inferred from mutant phenotype	8872460	GOA
involved in neuronal action potential	IMP IMP: Inferred from mutant phenotype	8872460	GOA
acts upstream of or within regulation of membrane potential	IMP IMP: Inferred from mutant phenotype	9221765	GOA
involved in regulation of membrane potential	IMP IMP: Inferred from mutant phenotype	8872460	GOA
involved in skeletal muscle contraction	IMP IMP: Inferred from mutant phenotype	8872460	GOA
involved in skeletal muscle tissue growth	IMP IMP: Inferred from mutant phenotype	18252226	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cell surface	IDA IDA: Inferred from direct assay	12928480	GOA
is active in neuromuscular junction	IDA IDA: Inferred from direct assay	9221765	GOA
located in neuromuscular junction	IDA IDA: Inferred from direct assay	9221765	GOA
is active in neuromuscular junction	IMP IMP: Inferred from mutant phenotype	9221765	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

CHRNA1 Protein Structure

Neur_chan_LBD

Neur_chan_memb

0
100
200
300
400
482 a.a.

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

Recombinant CHRNA1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P72139	CHRNA1 Protein, Human (His)	P02708-1 (S21-L255)	≥ 90%, as determined by reducing SDS-PAGE.
HY-P72140	CHRNA1 Protein, Human (His-Trx)	P02708-1 (S21-L255)	≥ 90%, as determined by reducing SDS-PAGE.

CHRNA1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P811017	CHRNA1 Antibody	WB, IHC-P	Human, Mouse, Rat

Related Diseases

Diseases	Alias
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
Myasthenic Syndrome, Congenital, 1b, Fast-Channel	CMS1B Congenital Myasthenic Syndrome 1b Myasthenic Syndrome, Congenital, Fast-Channel Congenital Myasthenic Syndrome 1b, Fast-Channel Fccms Myasthenic Syndrome, Fast-Channel Congenital Myasthenic Syndrome, Congenital, Type 1b, Fast-Channel Congenital Myasthenic Syndrome Ib
Multiple Pterygium Syndrome, Lethal Type	LMPS Lethal Multiple Pterygium Syndrome Pterygium Syndrome, Multiple, Lethal Type Multiple Pterygium Syndrome Lethal Type Pterygium Syndrome Multiple Lethal Type Autosomal Recessive Lethal Multiple Pterygium Syndrome
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
Postsynaptic Congenital Myasthenic Syndromes	Congenital Myasthenic Syndromes, Postsynaptic
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Myasthenia Gravis	MG Acquired Myasthenia Autoimmune Myasthenia Gravis Erb-Goldflam Disease Mg - [Myasthenia Gravis] Myasthenia Gravis Nos Myasthenia
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
Predominantly Cortical Thymoma	Lymphocyte-Predominant Thymoma Thymoma, Organoid Thymoma, Type B1
Hydrops Fetalis, Nonimmune	Hydrops Fetalis Non-Immune Hydrops Fetalis NIHF Familial Non-Immune Hydrops Fetalis Hydrops Fetalis Nonimmune Idiopathic Hydrops Fetalis Hb Bart'S Hydrops Fetalis Alpha-Thalassemia Hydrops Fetalis Alpha-Thalassemia Major Hemoglobin Bart'S Hydrops Fetalis Homozygous Alpha0-Thalassemia Fetal Anasarca Fetal Hydrops Generalized Fetal Edema Hf Non-Immune Hf Non-Immune Fetal Edema Non-Immune Fetal Hydrops Hydrops Fetalis, Non-Immune Hemoglobin Bart'S Hydrops Syndrome
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
Medulloblastoma Shh Activated And Tp53 Mutant
Neuromuscular Junction Disease	Neuromuscular Junction Diseases
Medulloblastoma Non-Wnt/Non-Shh
Medulloblastoma Shh Activated And Tp53 Wild-Type	Medulloblastoma Shh-Activated Tp53-Wildtype
Ptosis	Blepharoptosis Drooping Eyelid Droopy Eyelid Ptosis Of Eyelid Paralysis Of Levator Palpebrae Superioris
Brain Angioma	Brain Hemangioma
Medulloblastoma Wnt Activated
Medulloblastoma Shh Activated
Oligohydramnios	Oligohydramnios - Delivered Antepartum Oligohydramnios Delivered Oligohydramnios Oligohydramnios, Antepartum Condition Or Complication Deficient Liquor Oligohydramnios, Unspecified Trimester Reduced Liquor Volume
Kleptomania	Pathological Stealing
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
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
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
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
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]
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02665	CHRNA1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17513	Chrna1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23970	Chrna1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	CHRNA1	VGNC	VGNC:27322
Macaca mulatta	CHRNA1	VGNC	VGNC:71045
Felis catus	CHRNA1	VGNC	VGNC:60878
Mus musculus	CHRNA1	MGD	MGI:87885
Rattus norvegicus	CHRNA1	RGD	RGD:69277
Canis familiaris	CHRNA1	VGNC	VGNC:39236
Others	CHRNA1	NCBI