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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

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)
About This Section

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

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, and among its related super-pathways are Presynaptic nicotinic acetylcholine receptors and Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell. GO annotations related to this gene include ion channel activity and acetylcholine receptor activity. An important paralog of this gene is CHRNA5.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  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 plasmidCHRNA1 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for CHRNA1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P02708

  • CHRNA1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CHRNA1 Protein Expression
    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 for CHRNA1: 
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    OriGene Protein Over-expression Lysate for CHRNA1
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    Novus Biologicals CHRNA1 Protein
    Novus Biologicals CHRNA1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (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 to membrane ----

    CHRNA1 for ontologies           About GeneDecksing



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

    IUPHAR Guide to PHARMACOLOGY protein family classification: α1 
    Nicotinic acetylcholine receptors

    5/6 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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 - Custom generated mouse model solutions for CHRNA1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CHRNA1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CHRNA1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CHRNA1 

    miRNA
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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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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHRNA1


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CHRNA1 About   (see all 11)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Presynaptic nicotinic acetylcholine receptors
    Presynaptic nicotinic acetylcholine receptors0.86
    Postsynaptic nicotinic acetylcholine receptors0.86
    Acetylcholine Binding And Downstream Events0.86
    Highly calcium permeable postsynaptic nicotinic acetylcholine receptors0.82
    Activation of Nicotinic Acetylcholine Receptors0.86
    Highly calcium permeable nicotinic acetylcholine receptors0.82
    2Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.67
    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
    5Serotonin Neurotransmitter Release Cycle
    Effects of Botulinum toxin0.43

    Pathways by source                                                                                                                                                                 See SuperPaths
    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 CentralTM 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)
    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): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003009skeletal muscle contraction IMP8872460
    GO:0006810transport TAS7619526
    GO:0006811ion transport ----
    GO:0007165signal transduction TAS7619526
    GO:0007268synaptic transmission TAS--

    CHRNA1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
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    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 (α1)    About this table 
    LigandTypeActionAffinityPubmed IDs
    gallamine
    Channel blockerNone6--
    mecamylamine
    Channel blockerNone5.82--
    α-conotoxin GI
    AntagonistAntagonist5.82--
    succinylcholine
    AgonistFull agonist5.82--
    pancuronium
    AntagonistAntagonist5.82--
    α-bungarotoxin
    AntagonistAntagonist5.82--
    waglerin-1
    AntagonistAntagonist5.82--
    [125I]α-bungarotoxin
    NoneNone5.82--
    α-conotoxin MI
    AntagonistAntagonist5.82--
    [3H]α-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)

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

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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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    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 

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

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

    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)      CHRNA1 embryonic expression: see
    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 
     5/10 selected tissues (see all 10) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 7 entries
             Mononuclear Myocytes Hyoid Arch Muscles
             Extraocular Muscles
             Human Skeletal Muscle Satellite Cells (HSkMSC)   
             vastus lateralis   
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem 4D20.8, NCr-fac Progenitor
     
     Mesenchymal Stem Cells
             Dental pulp Stem Cells (DPSC)   
     
     Smooth Muscle (Muscoskeletal System)
             Human Brain Vascular Smooth Muscle Cells (HBVSMC)   
     
     Bone (Muscoskeletal System)
             Human Mesenchymal Stem Cell-bone marrow (HMSC-Bone Marrow)   

    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: 
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    (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 7/15 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_007389.41  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
    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, 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) 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

    10/559 SNPs in CHRNA1 are shown (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
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/22 diseases for CHRNA1 (see all 22):    About MalaCards
    chrna1-related congenital myasthenic syndrome    chrna1-related multiple pterygium syndrome, lethal type    slow-channel congenital myasthenic syndrome    myasthenic syndrome, fast-channel congenital
    myasthenia gravis    fetal akinesia deformation sequence    pterygium    congenital myasthenic syndrome
    nicotine dependence    oligohydramnios    chronic obstructive pulmonary disease    thymoma
    ophthalmoplegia    bipolar disorder    neuronitis    rhabdomyosarcoma
    medulloblastoma    hypotonia    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

    PubMed articles for CHRNA1 gene, integrated from 9 sources (see all 96):
    (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. (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. (1990)
    3. Association of CHRN genes with 'dizziness' to tobacco. (PubMed id 19760673)1, 4 Ehringer M.A....Bierut L.J. (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. (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. (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. (2010)
    7. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (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. (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. (2009)
    10. Smokers with the CHRNA lung cancer-associated variants are exposed to higher levels of nicotine equivalents and a carcinogenic tobacco-specific nitrosamine. (PubMed id 19010884)1, 4 Le Marchand L....Wang H. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    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
    NameDescription
    PharmGKB entry for CHRNA1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CHRNA1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    About This Section

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