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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CHRNA1 Gene

protein-coding GIFtS: 64
GCID: GC02M175612

cholinergic receptor, nicotinic, alpha 1 (muscle)

(Previous names: cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)...)
(Previous symbol: CHRNA)

Explore 18 diseases affiliated with
CHRNA1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Cholinergic Receptor, Nicotinic, Alpha 1 (Muscle)¹ ²		SCCMS² ⁵
CHRNA¹ ²		Acetylcholine Receptor Subunit Alpha²
Cholinergic Receptor, Nicotinic, Alpha Polypeptide 1 (Muscle)¹ ²		Acetylcholine Receptor, Nicotinic, Alpha 1 (Muscle)²
ACHRA² ³		Muscle Nicotinic Acetylcholine Receptor²
ACHRD² ⁵		Nicotinic Acetylcholine Receptor Alpha Subunit²
CMS2A² ⁵		Nicotinic Cholinergic Receptor Alpha 1²
FCCMS² ⁵		CHNRA³

External Ids:	HGNC: 1955¹	Entrez Gene: 1134²	Ensembl: ENSG00000138435⁷	OMIM: 100690⁵	UniProtKB: P02708³

Export aliases for CHRNA1 gene to outside databases

Previous GC identifers: GC02M173665 GC02M174273 GC02M175576 GC02M175815 GC02M175814 GC02M175437 GC02M175320 GC02M167492

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CHRNA1:

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)

UniProtKB/Swiss-Prot: ACHA_HUMAN, P02708

Function: After binding acetylcholine, 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

summary for CHRNA1:

Nicotinic receptors (nAChRs) are ligand-gated ion channels that modulate cell membrane potentials. Each

receptor is composed of pentameric combinations of subunits (alpha1-10, beta1-4, delta, epsilon and gamma).

Nicotinic receptors are generally divided into three functional classes: muscle subunits (alpha1, beta1,

delta, epsilon, gamma), standard neuronal subunits (alpha1-6 and beta2-4) that form in pairwise alphabeta

combinations, and subunits (alpha7-9) that can form homomeric nAChRs. Neuronal nicotinic receptors are found

in the central nervous system and in autonomic ganglia where they regulate processes such as transmitter

release, cell excitability and neuronal integration. Nicotinic receptors located at the neuromuscular

junctions of somatic muscles are responsible for muscular contraction.

Gene Wiki entry for CHRNA1 (Cholinergic receptor, nicotinic, alpha 1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_005403.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CHRNA1 gene promoter:
MyoD LUN-1 HNF-4alpha2 Tal-1beta HNF-4alpha1 Gfi-1 CBF-A Chx10 ITF-2 CBF(2)
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CHRNA1 promoter sequence

Search SABiosciences Chromatin IP Primers for CHRNA1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHRNA1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q31.1 Ensembl cytogenetic band: 2q31.1 HGNC cytogenetic band: 2q31.1

CHRNA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHRNA1 gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M175612: view genomic region (about GC identifiers)

Start:	175,612,320 bp from pter	End:	175,629,200 bp from pter
Size:	16,881 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ACHA_HUMAN, P02708 (See protein sequence)

Recommended Name: Acetylcholine receptor subunit alpha precursor

Size: 482 amino acids; 54546 Da

Subunit: Pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in

mature muscle) chains

Subcellular location: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane;

Multi-pass membrane protein

3 PDB 3D structures from and Proteopedia for CHRNA1:

1Y5P (3D)

1Y5T (3D)

1Y6C (3D)

Secondary accessions: B4DRV6 D3DPE8

Alternative splicing: 2 isoforms: P02708-1 P02708-2

Explore the universe of human proteins at neXtProt for CHRNA1: NX_P02708

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P02708

CHRNA1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_000070.1 NP_001034612.1

ENSEMBL proteins:

ENSP00000261008 ENSP00000261007 ENSP00000387026 ENSP00000386611 ENSP00000395805

ENSP00000386684

Reactome Protein details: P02708
Human Recombinant Protein Products:

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	Novus Biologicals CHRNA1 Protein Novus Biologicals CHRNA1 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	--
GO:0005892	acetylcholine-gated channel complex	ISS	8872460
GO:0009986	cell surface	IDA	12928480
GO:0016021	integral to membrane	--	--
GO:0030054	cell junction	IEA	--

CHRNA1 for ontologies About GeneDecksing

CHRNA1 Antibody Products:

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	Novus Biologicals CHRNA1 Antibodies
	Search for Antibodies for CHRNA1 at Abcam
	Browse Antibodies at Uscn
	Search ThermoFisher Antibodies for CHRNA1

Assay Products for CHRNA1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for CHRNA1
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CHRNA1 for domains About GeneDecksing

5 InterPro domains/families:

IPR002394 Nicotinic_acetylcholine_rcpt

IPR018000 Neurotransmitter_ion_chnl_CS

IPR006201 Neur_channel

IPR006202 Neur_chan_lig-bd

IPR006029 Neurotrans-gated_channel_TM

Graphical View of Domain Structure for InterPro Entry P02708

ProtoNet protein and cluster: P02708

2 Blocks protein families:

IPB002394 Nicotinic acetylcholine receptor signature

IPB006201 Neurotransmitter-gated ion-channel

UniProtKB/Swiss-Prot: ACHA_HUMAN, P02708

Similarity: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Acetylcholine receptor (TC 1.A.9.1) subfamily.

Alpha-1/CHRNA1 sub-subfamily

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: ACHA_HUMAN, P02708

Function: After binding acetylcholine, 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

Genatlas biochemistry entry for CHRNA1:

cholinergic receptor,nicotinic,alpha 1 polypeptide,muscle

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CHRNA1
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		hsa-miR-105 hsa-miR-570
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHRNA1

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004872	receptor activity	--	--
GO:0004889	contributes to acetylcholine-activated cation-selective channel activity	ISS	8872460
GO:0005216	ion channel activity	TAS	6688857
GO:0005230	extracellular ligand-gated ion channel activity	--	--
GO:0015464	contributes to acetylcholine receptor activity	ISS	8872460

CHRNA1 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Chrna1^tm1Klee for CHRNA1
     4 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Chrna1):

behavior/neurological

mortality/aging

nervous system

skeleton

CHRNA1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/11 super-pathways (see all 11) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Presynaptic nicotinic acetylcholine receptors

Presynaptic nicotinic acetylcholine receptors	1.00	Acetylcholine Binding And Downstream Events	0.86
Activation of Nicotinic Acetylcholine Receptors	0.86	Highly calcium permeable nicotinic acetylcholine receptors	0.75
Postsynaptic nicotinic acetylcholine receptors	0.86	Highly calcium permeable postsynaptic nicotinic acetylcholine receptors	0.64

Transmission across Chemical Synapses

	Transmission across Chemical Synapses	1.00			Neuronal System	0.67
	Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell	0.72

Calcium channels

Calcium channels

1.00

AMPK Enzyme Complex Pathway

AMPK Enzyme Complex Pathway

1.00

Agrin Interactions at Neuromuscular Junction

Agrin Interactions at Neuromuscular Junction

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for CHRNA1

Calcium channels

5 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CHRNA1

	AMPK Enzyme Complex Pathway
	eNOS Signaling
	Intracellular Calcium Signaling
	nNOS Signaling in Skeletal Muscle
	Agrin Interactions at Neuromuscular Junction

2 BioSystems Pathways for CHRNA1

	Effects of Botulinum toxin
	ErbB2/ErbB3 signaling events

5/9 Reactome Pathways for CHRNA1 (see all 9)

	Activation of Nicotinic Acetylcholine Receptors
	Transmission across Chemical Synapses
	Acetylcholine Binding And Downstream Events
	Highly calcium permeable nicotinic acetylcholine receptors
	Highly calcium permeable postsynaptic nicotinic acetylcholine receptors

1 Kegg Pathway (Kegg details for CHRNA1):

Neuroactive ligand-receptor interaction

CHRNA1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for CHRNA1

STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

5/18 Interacting proteins for CHRNA1 (P02708³ ENSP00000261007⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 18)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CHRNE	Q04844³, ENSP00000293780⁴	I2D: score=2 STRING: ENSP00000293780
CHRND	Q07001³, ENSP00000258385⁴	I2D: score=2 STRING: ENSP00000258385
CHRNG	P07510³, ENSP00000374145⁴	I2D: score=2 STRING: ENSP00000374145
ITGA7	Q13683³, ENSP00000257879⁴	I2D: score=2 STRING: ENSP00000257879
MAPK1	ENSP00000215832⁴	STRING: ENSP00000215832

About this table

Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003009	skeletal muscle contraction	IMP	8872460
GO:0006810	transport	TAS	7619526
GO:0007165	signal transduction	TAS	7619526
GO:0007268	synaptic transmission	TAS	--
GO:0007274	neuromuscular synaptic transmission	IMP	9221765

CHRNA1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CHRNA1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for CHRNA1 available from Tocris Bioscience About this table

Compound	Action	CAS #
alpha-Conotoxin EI	alpha1beta1deltagamma selective nAChR antagonist	[170663-33-9]
Mecamylamine hydrochloride	Non-competitive nicotinic receptor antagonist	[826-39-1]
(�)-Epibatidine	Very potent nicotinic agonist	[140111-52-0]
(�)-Anatoxin A fumarate	Nicotinic agonist	[64285-06-9]

1 DrugBank Compound for CHRNA1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Galantamine	(-)-Galanthamine (see all 3)	357-70-0	target	allosteric modulator	12137632 11129124 12481195 20480924 12177686 10971048

3 Novoseek chemical compound relationships for CHRNA1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
alpha-bungarotoxin	75.9	3	2036361 (1), 8117719 (1), 1869552 (1)
acetylcholine	56	6	8738961 (2), 14735134 (1), 8144624 (1), 9237805 (1) (see all 5)
nicotine	27.7	1	20008879 (1)

Search CenterWatch for drugs/clinical trials and news about CHRNA1 / ACHA

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CHRNA1 gene (2 alternative transcripts):

NM_000079.3 NM_001039523.2

Unigene Cluster for CHRNA1:

Cholinergic receptor, nicotinic, alpha 1 (muscle)

Hs.434479 [show with all ESTs]

Unigene Representative Sequence: NM_001039523

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000348749(uc002ujd.2 uc002uje.2) ENST00000261007 ENST00000409542

ENST00000409219 ENST00000435083 ENST00000409323(uc002ujf.4)

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CHRNA1
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		hsa-miR-105 hsa-miR-570
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CHRNA1

Additional cDNA sequence:

AK291338.1 AK299445.1 AK315312.1 DQ323657.1 DQ323658.1 S77094.1 Y00762.1

6 DOTS entries:

DT.107900 DT.91888757 DT.99988606 DT.101981181 DT.92419410 DT.95258442

24/27 AceView cDNA sequences (see all 27):

Y00762 NM_000079 CD013890 BC006314 CD013891 BX283457 BC043196 CD013888

BF307554 AU120692 BF307986 W81677 BM729043 BF309251 BX500867 CD013889

S77094 BI114221 BU161024 AU099601 BM681981 BI600446 BF305214 BG828551

GeneLoc Exon Structure

5/7 Alternative Splicing Database (ASD) splice patterns (SP) for CHRNA1 (see all 7) About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3	^	4	^	5	^	6a	·	6b	^	7a	·	7b	^	8	^	9a	·	9b	^	10a	·	10b	·	10c
SP1:																					-				-
SP2:											-										-				-
SP3:											-		-								-				-
SP4:											-		-		-						-				-
SP5:											-										-				-		-

ECgene alternative splicing isoforms for CHRNA1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CHRNA1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTTGTTTGCA

About this image

CHRNA1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Skeletal Muscle

Extraocular Muscles

Skeletal Muscle

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 3 LifeMap Cells

Name

Category

PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)

Lateral Plate Mesoderm, Neural Crest

PureStem™ progenitor SK17 (Embryonic Progenitor Cell)

See CHRNA1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CHRNA1

SOURCE GeneReport for Unigene cluster: Hs.434479

UniProtKB/Swiss-Prot: ACHA_HUMAN, P02708

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

SABiosciences Expression via Pathway-Focused PCR Array including CHRNA1:

Hypertension in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHRNA1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for CHRNA1 gene from 6/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	CHRNA1¹	cholinergic receptor, nicotinic, alpha 1 (muscle)	80.37(n) 86.22(a)		395608 NM_204816.1 NP_990147.1
lizard (Anolis carolinensis)	Reptilia	CHRNA1⁶	--	81(a)	1 ↔ 1	GL343377.1(721478-739033)
African clawed frog (Xenopus laevis)	Amphibia	Xl.1117²	Xenopus mRNA for muscle aetylcholine receptor alpha more	75.39(n)		X07067.1
zebrafish (Danio rerio)	Actinopterygii	chrna1²	cholinergic receptor, nicotinic, alpha polypeptide more	77.83(n)		30725 NM_131445.1
fruit fly (Drosophila melanogaster)	Insecta	nAcRalpha-96Aa³	nicotinic acetylcholine-activated cation-selective more	49(a) (best of 7)		--
worm (Caenorhabditis elegans)	Secernentea	acr-12³	acetylcholine receptor protein	42(a) (best of 15)		X(13568267-13571536) --

ENSEMBL Gene Tree for CHRNA1 (if available)
TreeFam Gene Tree for CHRNA1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CHRNA1 gene

CHRNA5² CHRNA2² CHRNA6² CHRNA7² CHRNE² CHRNB4² CHRNA4² CHRNA10²

CHRNA9² CHRNB2² CHRNG² CHRNA3² CHRFAM7A² CHRNB3² CHRNB1² CHRND²

18 SIMAP similar genes for CHRNA1 using alignment to 6 protein entries: ACHA_HUMAN (see all proteins):

CHRNA5 CHRNA4 CHRNA3 CHRNB3 CHRNA6 CHRNA2

CHRNA7-2 CHRNB4 CHRNA9 CHRNB2 CHRNA10 CHRNA7

CHRND CHRNB1 CHRFAM7A CHRNE CHRNG HTR3A

CHRNA1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs55700453^1,2		--	167492392(+)	`GCCTAA/GGCCCT`	2	--	ds500¹		0	--	--	--	--
rs79539026^1,2	C,F,	--	167493145(+)	`AGAGGG/ATTCAC`	2	--	ut3¹		1		WA	118
rs114232927^1,2	C,F,	--	167494452(+)	`AAAACA/GGCTAG`	2	--	int¹		1		WA	118
rs78798655^1,2	F,	--	167494659(+)	`AAGTTT/CTGTCA`	2	--	int¹		3		CSA WA	122
rs75938307^1,2	C,F,	--	167494912(+)	`CAGCCG/ATTTGT`	2	--	int¹		4		CSA WA	124
rs10208554^1,2	C,F,	--	167495065(+)	`CTAAAG/ACCCAA`	2	--	int¹		1		WA	118
rs76427148^1,2		--	167495530(+)	`TGACTG/ATATTT`	2	--	int¹		1		WA	118
rs11904606^1,2	C,F,H,	--	167495541(+)	`gaagaC/Taggga`	2	--	int¹		4		NA WA	126
rs78540654^1,2		--	167496030(+)	`ATGCTC/TCAGAT`	2	--	int¹		2		CSA WA	120
rs34092071^1,2	C,	--	167496576(-)	`CAGCCC/-AGGGA`	2	--	int¹		1		NA	2

HapMap Linkage Disequilibrium report for CHRNA1 (175612320 - 175629200 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CHRNA1: --
Human Gene Mutation Database (HGMD): CHRNA1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CHRNA1

DNA2.0 Custom Variant and Variant Library Synthesis for CHRNA1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CHRNA1 for disorders           About GeneDecksing

OMIM gene information: 100690
OMIM disorders: 601462  608930  253290
UniProtKB/Swiss-Prot: ACHA_HUMAN, P02708

Defects in CHRNA1 are a cause of multiple pterygium syndrome, lethal type (LMPS) [MIM:253290]. Multiple

pterygia are found infrequently in children with arthrogryposis and in fetuses with fetal akinesia syndrome. In lethal

multiple pterygium syndrome there is intrauterine growth retardation, multiple pterygia, and flexion contractures

causing severe arthrogryposis and fetal akinesia. Subcutaneous edema can be severe, causing fetal hydrops with cystic

hygroma and lung hypoplasia. Oligohydramnios and facial anomalies are frequent

Note=The alpha subunit is the main focus for antibody binding in myasthenia gravis. Myasthenia gravis is

characterized by sporadic muscular fatigability and weakness, occurring chiefly in muscles innervated by cranial

nerves, and characteristically improved by cholinesterase-inhibiting drugs

Defects in CHRNA1 are a cause of congenital myasthenic syndrome slow-channel type (SCCMS) [MIM:601462]. SCCMS

is the most common congenital myasthenic syndrome. Congenital myasthenic syndromes are characterized by muscle

weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to

ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to

dysphonia). The symptoms fluctuate and worsen with physical effort. SCCMS is caused by kinetic abnormalities of the

AChR, resulting in prolonged endplate currents and prolonged AChR channel opening episodes

Defects in CHRNA1 are a cause of congenital myasthenic syndrome fast-channel type (FCCMS) [MIM:608930]. FCCMS

is a congenital myasthenic syndrome characterized by kinetic abnormalities of the AChR. In most cases, FCCMS is due to

mutations that decrease activity of the AChR by slowing the rate of opening of the receptor channel, speeding the rate

of closure of the channel, or decreasing the number of openings of the channel during ACh occupancy. The result is

failure to achieve threshold depolarization of the endplate and consequent failure to fire an action potential

18 diseases for CHRNA1: About MalaCards

slow-channel congenital myasthenic syndrome myasthenia gravis congenital myasthenic syndrome myasthenic syndrome

myasthenia fetal akinesia deformation sequence chronic obstructive pulmonary disease bipolar disorder

pterygium pulmonary disease neuronitis thymoma

rhabdomyosarcoma medulloblastoma nicotine dependence pharyngitis

nephropathy asthma

2 diseases from the University of Copenhagen DISEASES database for CHRNA1:

Congenital myasthenic syndrome Myasthenia gravis

1 Novoseek disease relationship for CHRNA1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
myasthenia gravis	72.7	6	7910962 (2), 8738961 (2), 10628675 (1), 9237805 (1)

GeneTests: CHRNA1

Congenital Myasthenic Syndromes

Genetic Association Database (GAD): CHRNA1
Human Genome Epidemiology (HuGE) Navigator: CHRNA1 (13 documents)

Export disorders for CHRNA1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for CHRNA1 gene, integrated from 9 sources (see all 93):
(articles sorted by number of sources associating them with CHRNA1)

Utopia: connect your pdf to the dynamic
world of online information

Differential expression of human nicotinic acetylcholine receptor alpha subunit variants in muscle and non-muscle tissues. (PubMed id 8441631)^{1, 2, 9} Talib S.... Lebkowski J.S. (1993)
The human muscle nicotinic acetylcholine receptor alpha-subunit exist as two isoforms: a novel exon. (PubMed id 1694127)^{1, 2, 9} Beeson D.... Newsom-Davis J. (1990)
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. (PubMed id 18252226)^{1, 2} Michalk A.... Hoffmann K. (2008)
Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome. (PubMed id 15079006)^{1, 2} Webster R....Beeson D. (2004)
Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating. (PubMed id 12588888)^{1, 2} Shen X.-M....Engel A.G. (2003)
Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating. (PubMed id 10195214)^{1, 2} Wang H.-L.... Sine S.M. (1999)
Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome. (PubMed id 9158151)^{1, 2} Croxen R.... Newsom-Davis J. (1997)
Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit. (PubMed id 9221765)^{1, 2} Milone M.... Engel A.G. (1997)
New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. (PubMed id 8872460)^{1, 2} Engel A.G....Sine S.M. (1996)
Mutation of the acetylcholine receptor alpha subunit causes a slow- channel myasthenic syndrome by enhancing agonist binding affinity. (PubMed id 7619526)^{1, 2} Sine S.M....Engel A.G. (1995)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 1134	HGNC: 1955	AceView: CHRNA1	Ensembl:ENSG00000138435	euGenes: HUgn1134
ECgene: CHRNA1	Kegg: 1134	H-InvDB: CHRNA1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for CHRNA1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CHRNA1

Intellectual Property for CHRNA1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for CHRNA1 gene:
Search GeneIP for patents involving CHRNA1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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CHRNA1 Gene

cholinergic receptor, nicotinic, alpha 1 (muscle)

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CHRNA1 Gene

cholinergic receptor, nicotinic, alpha 1 (muscle)

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