Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1134
Gene name Gene Name - the full gene name approved by the HGNC.	Cholinergic receptor nicotinic alpha 1 subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CHRNA1
Synonyms (NCBI Gene) Gene synonyms aliases	ACHRA, ACHRD, CHRNA, CMS1A, CMS1B, CMS2A, FCCMS, SCCMS
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2q31.1
Summary Summary of gene provided in NCBI Entrez Gene.	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. Alternativel

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SNP ID	Visualize variation	Clinical significance	Consequence
rs137852798	G>A,C,T	Uncertain-significance, pathogenic	Synonymous variant, coding sequence variant, missense variant
rs137852799	C>A,G,T	Pathogenic	Coding sequence variant, missense variant
rs137852800	G>A	Pathogenic	Coding sequence variant, missense variant
rs137852801	C>T	Pathogenic	Coding sequence variant, missense variant
rs137852802	C>A	Pathogenic	Coding sequence variant, missense variant
rs137852803	C>A,G,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs137852804	C>T	Pathogenic	Coding sequence variant, missense variant
rs137852805	A>C	Pathogenic	Coding sequence variant, missense variant
rs137852806	A>G	Pathogenic	Coding sequence variant, missense variant
rs137852807	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs137852808	G>A,C	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs137852809	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs141733086	G>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs149292107	A>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs150638770	G>A,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, missense variant, coding sequence variant
rs199470445	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs374391312	G>A,C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs483353046	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs545520806	G>A	Likely-pathogenic	Synonymous variant, coding sequence variant
rs750329103	G>A	Pathogenic	Coding sequence variant, stop gained
rs768407867	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs886043372	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1064793397	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064795046	C>T	Likely-pathogenic	Splice acceptor variant
rs1131691893	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1291364532	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1553469070	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1574007436	TT>-	Likely-pathogenic	Coding sequence variant, frameshift variant

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miRTarBase ID	miRNA	Experiments
MIRT891681	hsa-miR-3646	CLIP-seq
MIRT891682	hsa-miR-875-3p	CLIP-seq
MIRT2200384	hsa-miR-3922-5p	CLIP-seq
MIRT2200385	hsa-miR-4753-5p	CLIP-seq
MIRT2447005	hsa-miR-3194-3p	CLIP-seq
MIRT2447006	hsa-miR-4490	CLIP-seq
MIRT2447007	hsa-miR-4774-5p	CLIP-seq
MIRT2447008	hsa-miR-767-3p	CLIP-seq
MIRT2447009	hsa-miR-938	CLIP-seq
MIRT2447010	hsa-miR-942	CLIP-seq
MIRT2447005	hsa-miR-3194-3p	CLIP-seq
MIRT2447006	hsa-miR-4490	CLIP-seq
MIRT2447007	hsa-miR-4774-5p	CLIP-seq
MIRT2447008	hsa-miR-767-3p	CLIP-seq
MIRT2447009	hsa-miR-938	CLIP-seq
MIRT2447010	hsa-miR-942	CLIP-seq
MIRT2447005	hsa-miR-3194-3p	CLIP-seq
MIRT2447006	hsa-miR-4490	CLIP-seq
MIRT2447007	hsa-miR-4774-5p	CLIP-seq
MIRT2447008	hsa-miR-767-3p	CLIP-seq
MIRT2447009	hsa-miR-938	CLIP-seq
MIRT2447010	hsa-miR-942	CLIP-seq

Transcription factors

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Transcription factor	Regulation	Reference
AIRE	Unknown	17687331

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GO ID	Ontology	Definition	Evidence	Reference
GO:0003009	Process	Skeletal muscle contraction	IBA
GO:0003009	Process	Skeletal muscle contraction	IEA
GO:0003009	Process	Skeletal muscle contraction	IMP	8872460
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005230	Function	Extracellular ligand-gated monoatomic ion channel activity	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS	8872460
GO:0005886	Component	Plasma membrane	TAS
GO:0005892	Component	Acetylcholine-gated channel complex	IBA
GO:0005892	Component	Acetylcholine-gated channel complex	IEA
GO:0005892	Component	Acetylcholine-gated channel complex	ISS	8872460
GO:0005892	Component	Acetylcholine-gated channel complex	TAS	7619526
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006812	Process	Monoatomic cation transport	IEA
GO:0007271	Process	Synaptic transmission, cholinergic	IBA
GO:0007274	Process	Neuromuscular synaptic transmission	IBA
GO:0007274	Process	Neuromuscular synaptic transmission	IMP	9221765
GO:0007528	Process	Neuromuscular junction development	IMP	9221765
GO:0009986	Component	Cell surface	IDA	12928480
GO:0009986	Component	Cell surface	IEA
GO:0015464	Function	Acetylcholine receptor activity	IBA
GO:0015464	Function	Acetylcholine receptor activity	IEA
GO:0015464	Function	Acetylcholine receptor activity	ISS	8872460
GO:0015464	Function	Acetylcholine receptor activity	TAS	7619526
GO:0016020	Component	Membrane	IEA
GO:0019228	Process	Neuronal action potential	IMP	8872460
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IBA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IEA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IEA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IMP	9221765
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	ISS	8872460
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	TAS	7619526
GO:0031594	Component	Neuromuscular junction	IDA	9221765
GO:0031594	Component	Neuromuscular junction	IDA	9221765
GO:0031594	Component	Neuromuscular junction	IEA
GO:0031594	Component	Neuromuscular junction	IMP	9221765
GO:0031594	Component	Neuromuscular junction	ISS	8872460
GO:0034220	Process	Monoatomic ion transmembrane transport	IBA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0035094	Process	Response to nicotine	IBA
GO:0042166	Function	Acetylcholine binding	IEA
GO:0042166	Function	Acetylcholine binding	ISS	8872460
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0042391	Process	Regulation of membrane potential	IMP	9221765
GO:0042391	Process	Regulation of membrane potential	IMP	8872460
GO:0043005	Component	Neuron projection	IBA
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045211	Component	Postsynaptic membrane	NAS	18252226
GO:0046716	Process	Muscle cell cellular homeostasis	IMP	8872460
GO:0048630	Process	Skeletal muscle tissue growth	IMP	18252226
GO:0050881	Process	Musculoskeletal movement	IMP	18252226
GO:0050905	Process	Neuromuscular process	IMP	9546329
GO:0051899	Process	Membrane depolarization	IBA
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0070050	Process	Neuron cellular homeostasis	IMP	8872460
GO:0095500	Process	Acetylcholine receptor signaling pathway	IBA
GO:0098793	Component	Presynapse	IEA
GO:0099171	Process	Presynaptic modulation of chemical synaptic transmission	IBA
GO:0099634	Component	Postsynaptic specialization membrane	IEA
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IDA	9221765
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IMP	9221765

MIM	HGNC	e!Ensembl
100690	1955	ENSG00000138435

Protein

UniProt ID

P02708

Protein name

Acetylcholine receptor subunit alpha

Protein function

[Isoform 1]: Upon acetylcholine binding, 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. ; [

PDB

4ZJS , 5HBT

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02931	Neur_chan_LBD	24 → 79	Neurotransmitter-gated ion-channel ligand binding domain	Family
PF02931	Neur_chan_LBD	97 → 256	Neurotransmitter-gated ion-channel ligand binding domain	Family
PF02932	Neur_chan_memb	263 → 403	Neurotransmitter-gated ion-channel transmembrane region	Family
PF02932	Neur_chan_memb	394 → 471	Neurotransmitter-gated ion-channel transmembrane region	Family

Tissue specificity

TISSUE SPECIFICITY: Isoform 1 is only expressed in skeletal muscle. Isoform 2 is constitutively expressed in skeletal muscle, brain, heart, kidney, liver, lung and thymus.

Sequence

MEPWPLLLLFSLCSAGLVLGSEHETRLVAKLFKDYSSVVRPVEDHRQVVEVTVGLQLIQL
INVDEVNQIVTTNVRLKQGDMVDLPRPSCVTLGVPLFSHLQNEQWVDYNLKWNPDDYGGV
KKIHIPSEKIWRPDLVLYNNADGDFAIVKFTKVLLQYTGHITWTPPAIFKSYCEIIVTHF
PFDEQNCSMKLGTWTYDGSVVAINPESDQPDLSNFMESGEWVIKESRGWKHSVTYSCCPD
TPYLDITYHFVMQRLPLYFIVNVIIPCLLFSFLTGLVFYLPTDSGEKMTLSISVLLSLTV
FLLVIVELIPSTSSAVPLIGKYMLFTMVFVIASIIITVIVINTHHRSPSTHVMPNWVRKV
FIDTIPNIMFFSTMKRPSREKQDKKIFTEDIDISDISGKPGPPPMGFHSPLIKHPEVKSA
IEGIKYIAETMKSDQESNNAAAEWKYVAMVMDHILLGVFMLVCIIGTLAVFAGRLIELNQ
QG

Sequence length

482

Interactions

View interactions

	KEGG		Reactome
	Virion - Ebolavirus, Lyssavirus and Morbillivirus Neuroactive ligand-receptor interaction		Highly calcium permeable postsynaptic nicotinic acetylcholine receptors Highly calcium permeable nicotinic acetylcholine receptors

Show/Hide Causal Diseases (5)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Lethal Multiple Pterygium Syndrome	lethal multiple pterygium syndrome	rs768407867, rs137852805, rs137852798, rs1574007436, rs1683929269, rs771260711, rs137852801, rs374391312, rs1064793397, rs750329103	N/A
Myasthenic Syndrome	myasthenic syndrome, congenital, 1b, fast-channel, Congenital myasthenic syndrome, Congenital myasthenic syndrome 1A	rs137852805, rs137852806, rs137852807, rs1574007436, rs137852798, rs137852808, rs137852800, rs2105350984, rs137852801, rs374391312, rs137852802, rs137852804	N/A
Centronuclear Myopathy	centronuclear myopathy	rs768407867	N/A
congenital myopathy	Congenital myopathy	rs137852801	N/A
Nonimmune Hydrops Fetalis	non-immune hydrops fetalis	rs545520806	N/A

Show/Hide Unknown Diseases (5)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Epilepsy	epilepsy	N/A	N/A	ClinVar
Multiple Pterygium Syndrome	autosomal recessive multiple pterygium syndrome	N/A	N/A	ClinVar
Myasthenia Gravis	Myasthenia gravis	N/A	N/A	GWAS
Myoclonic Epilepsy	juvenile myoclonic epilepsy	N/A	N/A	ClinVar
seizure	Seizure	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Colitis Ulcerative	Associate	37055577
Fatigue	Associate	8827715
Fetal akinesia syndrome X linked	Associate	18179903, 23037934
Fetal Diseases	Associate	23037934
Lung Neoplasms	Associate	20234319, 23094028, 23232035
Multiple pterygium syndrome	Associate	18179903
Multiple Pterygium Syndrome Autosomal Dominant	Associate	23037934
Muscle Weakness	Associate	21316238, 33216040
Myasthenia Gravis	Associate	10227809, 15627975, 16891216, 1979338, 2564730, 35074870, 7910962, 8827715
Myasthenic Syndromes Congenital	Associate	12588888, 15731194, 19147685, 20562457, 21316238, 22728938, 31570625, 33216040, 33652901, 35466948
Ophthalmoplegia	Associate	21316238
Pena Shokeir syndrome type 1	Associate	25537362
Ptosis Hereditary Congenital 2	Associate	21316238
Schizophrenia	Associate	31342675

CHRNA1 (cholinergic receptor nicotinic alpha 1 subunit)