CHRNA1 - cholinergic receptor nicotinic alpha 1 subunit Gene

Homo sapiens

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

Gene ID: 1134 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 (S21-L255)	≥95%
HY-P72140	CHRNA1 Protein, Human (His-Trx)	P02708 (S21-L255)	≥95%

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02665	CHRNA1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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