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CHRNA1 Gene

protein-coding   GIFtS: 66
GCID: GC02M175612

Cholinergic Receptor, Nicotinic, Alpha 1 (Muscle)

(Previous names: cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle))
(Previous symbol: CHRNA)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cholinergic Receptor, Nicotinic, Alpha 1 (Muscle)1 2     Alpha 1 (Muscle)1
CHRNA1 2     nicotinic1
Cholinergic Receptor, Nicotinic, Alpha Polypeptide 1 (Muscle)1 2     Acetylcholine Receptor Subunit Alpha2
ACHRA2 3     Acetylcholine Receptor, Nicotinic, Alpha 1 (Muscle)2
ACHRD2 5     Muscle Nicotinic Acetylcholine Receptor2
CMS2A2 5     Nicotinic Acetylcholine Receptor Alpha Subunit2
FCCMS2 5     Nicotinic Cholinergic Receptor Alpha 12
SCCMS2 5     CHNRA3
Acetylcholine Receptor1     

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CHRNA1 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. Alternatively spliced transcript variants encoding different isoforms have been
identified. (provided by RefSeq, Nov 2012)

GeneCards Summary for CHRNA1 Gene:
CHRNA1 (cholinergic receptor, nicotinic, alpha 1 (muscle)) is a protein-coding gene. Diseases associated with CHRNA1 include chrna1-related congenital myasthenic syndrome, and chrna1-related multiple pterygium syndrome, lethal type. GO annotations related to this gene include acetylcholine-activated cation-selective channel activity and acetylcholine receptor activity. An important paralog of this gene is CHRNA4.

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

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


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NC_018913.2  NT_005403.18  
Regulatory elements:
   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 plasmidCHRNA1 promoter sequence
   Search Chromatin IP Primers for CHRNA1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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

Explore proteomics data for CHRNA1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn186
  • Modification sites at PhosphoSitePlus

  • See CHRNA1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000070.1  NP_001034612.1  

    ENSEMBL proteins: 
     ENSP00000261008   ENSP00000261007   ENSP00000387026   ENSP00000386611   ENSP00000395805  
     ENSP00000386684  
    Reactome Protein details: P02708

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CHRN: Ligand-gated ion channels / Acetylcholine receptors, nicotinic
    CHR: Cholinergic receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: alpha1
    Nicotinic acetylcholine receptors

    Selected InterPro protein domains (see all 6):
     IPR027361 Acetylcholine_rcpt_TM
     IPR002394 Nicotinic_acetylcholine_rcpt
     IPR018000 Neurotransmitter_ion_chnl_CS
     IPR006201 Neur_channel
     IPR006202 Neur_chan_lig-bd

    Graphical View of Domain Structure for InterPro Entry P02708

    ProtoNet protein and cluster: P02708

    2 Blocks protein domains:
    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


    CHRNA1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004889contributes to acetylcholine-activated cation-selective channel activity ISS8872460
    GO:0005216ion channel activity TAS6688857
    GO:0005230extracellular ligand-gated ion channel activity ----
    GO:0015464contributes to acetylcholine receptor activity ISS8872460
    GO:0042166contributes to acetylcholine binding ISS8872460
         
    CHRNA1 for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Chrna1):
     behavior/neurological  mortality/aging  nervous system  skeleton 

    CHRNA1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Chrna1tm1Klee for CHRNA1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CHRNA1
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    hsa-miR-105 hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmidCHRNA1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHRNA1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ACHA_HUMAN, P02708: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell
    membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005892acetylcholine-gated channel complex ISS8872460
    GO:0009986cell surface IDA12928480
    GO:0016020membrane ----
    GO:0016021integral component of membrane ----

    CHRNA1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for CHRNA1 About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1Activation of Nicotinic Acetylcholine Receptors
    Activation of Nicotinic Acetylcholine Receptors
    Acetylcholine Binding And Downstream Events0.00
    Presynaptic nicotinic acetylcholine receptors0.00
    Highly calcium permeable postsynaptic nicotinic acetylcholine receptors0.00
    Highly calcium permeable nicotinic acetylcholine receptors0.00
    Postsynaptic nicotinic acetylcholine receptors0.00
    2Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.68
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    3CREB Pathway
    Intracellular Calcium Signaling0.50
    4Nanog in Mammalian ESC Pluripotency
    eNOS Signaling0.48
    5Neurotransmitter Release Cycle
    Effects of Botulinum toxin0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5 Downloadable PowerPoint Slides of GeneGlobe 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
        ErbB2/ErbB3 signaling events
    Effects of Botulinum toxin

    2 Reactome Pathways for CHRNA1
        Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
    Highly calcium permeable nicotinic acetylcholine receptors


    1 Kegg Pathway  (Kegg details for CHRNA1):
        Neuroactive ligand-receptor interaction


    CHRNA1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including CHRNA1: 
              Hypertension in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for CHRNA1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    Selected Interacting proteins for CHRNA1 (P027083 ENSP000002610074) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CHRNEQ048443, ENSP000002937804I2D: score=2 STRING: ENSP00000293780
    CHRNDQ070013, ENSP000002583854I2D: score=2 STRING: ENSP00000258385
    CHRNGP075103, ENSP000003741454I2D: score=2 STRING: ENSP00000374145
    ITGA7Q136833, ENSP000002578794I2D: score=2 STRING: ENSP00000257879
    MAPK1ENSP000002158324STRING: ENSP00000215832
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003009skeletal muscle contraction IMP8872460
    GO:0006810transport TAS7619526
    GO:0006811ion transport ----
    GO:0006812cation transport TAS7619526
    GO:0007165signal transduction TAS7619526

    CHRNA1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CHRNA1 (ACHA)

    2 DrugBank Compounds for CHRNA1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Galantamine(-)-Galanthamine (see all 3)357-70-0targetallosteric modulator12137632 11129124 12481195 20480924 12177686 10971048
    Agmatine-- 306-60-5targetantagonist2331571

    10 IUPHAR Ligands for CHRNA1 (alpha1)    About this table
    LigandTypeActionAffinityPubmed IDs
    gallamine
    Channel blockerNone6--
    mecamylamine
    Channel blockerNone5.82--
    alpha-conotoxin GI
    AntagonistAntagonist5.82--
    succinylcholine
    AgonistFull agonist5.82--
    pancuronium
    AntagonistAntagonist5.82--
    alpha-bungarotoxin
    AntagonistAntagonist5.82--
    waglerin-1
    AntagonistAntagonist5.82--
    [125I]alpha-bungarotoxin
    NoneNone5.82--
    alpha-conotoxin MI
    AntagonistAntagonist5.82--
    [3H]alpha-bungarotoxin
    NoneNone5.82--

    3 Novoseek inferred 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)



    CHRNA1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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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    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 27):

    CD013891 NM_000079 Y00762 CD013890 BC006314 AU120692 BI114221 BF309251 
    CD013889 W81677 BF307554 BX283457 BX500867 BF307986 CD013888 BM729043 
    S77094 BU161024 BC043196 BI600446 BM681981 AU099601 BF305214 AW380664 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CHRNA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTGTTTGCA
    CHRNA1 Expression
    About this image


    CHRNA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem MEL2, NCr-fac Progenitor
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 3 entries
             Mononuclear Myocytes Hyoid Arch Muscles
             Extraocular Muscles
    CHRNA1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CHRNA1 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler PCR Array including CHRNA1: 
              Hypertension in human mouse rat

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    In Situ
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    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for CHRNA1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chrna11 , 5 cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle) less1, 5 88.91(n)1
    94.31(a)1
      2 (43.76 cM)5
    114351  NM_007389.51  NP_031415.21 
     735632155 
    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
    cholinergic receptor, nicotinic, alpha 1 (muscle)
    84(a)
    1 ↔ 1
    GL343377.1(718249-741128)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.11172 Xenopus mRNA for muscle aetylcholine receptor alpha subunit less 75.39(n)    X07067.1 
    zebrafish
    (Danio rerio)
    Actinopterygii chrna12 cholinergic receptor, nicotinic, alpha polypeptide 1 less 77.83(n)   30725  NM_131445.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta nAcRalpha-96Aa3 nicotinic acetylcholine-activated
    cation-selective channel less
    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

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    Paralogs for CHRNA1 gene
    CHRNA42  CHRNA52  CHRNA22  CHRNB22  CHRNA62  CHRNG2  CHRNA32  CHRNE2  
    CHRND2  CHRNB32  CHRNB12  CHRNB42  
    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, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CHRNA1 (see all 559)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0212074
    Myasthenic syndrome, congenital, slow-channel (SCCMS)4--see VAR_0212072 V F mis40--------
    VAR_0212094
    Myasthenic syndrome, congenital, fast-channel (FCCMS)4--see VAR_0212092 V I mis40--------
    VAR_0439044
    Multiple pterygium syndrome, lethal type (LMPS)4--see VAR_0439042 R L mis40--------
    VAR_0002864
    Myasthenic syndrome, congenital, slow-channel (SCCMS)4--see VAR_0002862 S I mis40--------
    VAR_0386014
    Myasthenic syndrome, congenital, slow-channel (SCCMS)4--see VAR_0386012 C W mis40--------
    VAR_0002824
    Myasthenic syndrome, congenital, slow-channel (SCCMS)4--see VAR_0002822 G S mis40--------
    VAR_0002844
    Myasthenic syndrome, congenital, slow-channel (SCCMS)4--see VAR_0002842 N K mis40--------
    VAR_0002854
    Myasthenic syndrome, congenital, slow-channel (SCCMS)4--see VAR_0002852 T I mis40--------
    VAR_0212064
    Myasthenic syndrome, congenital, fast-channel (FCCMS)4--see VAR_0212062 F V mis40--------
    VAR_0385994
    Myasthenic syndrome, congenital, fast-channel (FCCMS)4--see VAR_0385992 V L mis40--------

    HapMap Linkage Disequilibrium report for CHRNA1 (175612320 - 175629200 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for CHRNA1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv459948CNV Loss19166990
    nsv875432CNV Loss21882294
    nsv470500CNV Loss18288195

    Human Gene Mutation Database (HGMD): CHRNA1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers 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

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    OMIM gene information: 100690   
    OMIM disorders: 601462  608930  253290  
    UniProtKB/Swiss-Prot: ACHA_HUMAN, P02708
  • 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 disease is caused by mutations
    affecting the gene represented in this entry
  • 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
  • Myasthenic syndrome, congenital, slow-channel (SCCMS) [MIM:601462]: A 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. Congenital myasthenic syndrome slow-channel type is caused by kinetic
    abnormalities of the AChR, resulting in prolonged endplate currents and prolonged AChR channel opening episodes.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Myasthenic syndrome, congenital, fast-channel (FCCMS) [MIM:608930]: A congenital myasthenic syndrome
    characterized by kinetic abnormalities of the AChR. Due in most cases 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. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • Selected diseases for CHRNA1 (see all 26):    
    About MalaCards
    chrna1-related congenital myasthenic syndrome    chrna1-related multiple pterygium syndrome, lethal type    slow-channel congenital myasthenic syndrome    myasthenic syndrome, fast-channel congenital
    multiple pterygium syndrome lethal type    fetal akinesia deformation sequence    pterygium    myasthenia gravis
    oligohydramnios    congenital myasthenic syndrome    nicotine dependence    ophthalmoplegia
    thymoma    hypotonia    lung cancer susceptibility    bipolar disorder
    medulloblastoma    rhabdomyosarcoma    asthma    hypertension

    2 diseases from the University of Copenhagen DISEASES database for CHRNA1:
    Congenital myasthenic syndrome     Myasthenia gravis

    CHRNA1 for disorders           About GeneDecksing

    1 Novoseek inferred 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
    GeneReviews: CHRNA1
    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

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    PubMed articles for CHRNA1 gene, integrated from 10 sources (see all 95):
    (articles sorted by number of sources associating them with CHRNA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (Nucleic Acids Res. 1993)
    2. 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. (EMBO J. 1990)
    3. Association of CHRN genes with &quot;dizziness&quot; to tobacco. (PubMed id 19760673)1, 4 Ehringer M.A....Bierut L.J. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)
    4. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PubMed id 20201926)1, 4 Joslyn G....White R.L. (Alcohol. Clin. Exp. Res. 2010)
    5. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PubMed id 20734064)1, 4 He C....Hunter D.J. (Hum. Genet. 2010)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    7. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    8. Multiple distinct risk loci for nicotine dependence identified by dense coverage of the complete family of nicotinic receptor subunit (CHRN) genes. (PubMed id 19259974)1, 4 Saccone N.L....Bierut L.J. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)
    9. Examination of the nicotine dependence (NICSNP) consortium findings in the Iowa adoption studies population. (PubMed id 19307444)1, 4 Philibert R.A....Madden P. (amp 2009)
    10. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PubMed id 19086053)1, 4 GratacA^s M....Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    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)
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    Entrez Gene: 1134 HGNC: 1955 AceView: CHRNA1 Ensembl:ENSG00000138435 euGenes: HUgn1134
    ECgene: CHRNA1 Kegg: 1134 H-InvDB: CHRNA1

    (According to HUGE)
    About This Section

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      --

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

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    NameDescription
    PharmGKB entry for CHRNA1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CHRNA1[genesymbol]

    (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



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