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FLASH GENE
Symbol CHRNA5 contributors: mct/npt - updated : 27-03-2009
HGNC name cholinergic receptor, nicotinic, alpha 5
HGNC id 1959
Location 15q25.1      Physical location : 78.857.861 - 78.887.610
Synonym name
  • neuronal nicotinic acetylcholine receptor, alpha5 subunit
  • cholinergic receptor, nicotinic, alpha polypeptide 5
  • Synonym symbol(s) LNCR2, NACHRA5
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    text CHRNA5-CHRNA3-CHRNB4 gene cluster
    STRUCTURE 28.55 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Map cen - D15S44 - D15S28 - CHRNA5 - D15S105 /D15S34 /D15S46 - D15S52 - D15S99 - D15S27 - D15S37 - qter
    Authors Donlon (92)
    Physical map
    LOC342111 15q24.1 hypothetical gene supported by NM_001897 LOC388141 15 LOC388141 LOC390611 15 similar to hypothetical protein FLJ20452 KIAA1055 15q24.1 KIAA1055 protein LOC146013 15q24.1 similar to SH2 domain protein 2A (T cell-specific adapter protein) (TSAd) (VEGF receptor-associated protein) (SH2 domain containing adapter protein) KIP2 15q24.3 similar to SH2 domain protein 2A (T cell-specific adapter protein) (TSAd) (VEGF receptor-associated protein) (SH2 domain containing adapter protein) IDH3A 15q25.1-q25.2 isocitrate dehydrogenase 3 (NAD+) alpha BG1 15q24-q25 isocitrate dehydrogenase 3 (NAD+) alpha DNAJA4 15q24.1 DnaJ (Hsp40) homolog, subfamily A, member 4 REC14 15q24.1 recombination protein REC14 CRABP1 15q24 cellular retinoic acid binding protein 1 IREB2 15q24 iron-responsive element binding protein 2 LOC123688 15q24.1 similar to RIKEN cDNA C630028N24 gene PSMA4 15q24.1 proteasome (prosome, macropain) subunit, alpha type, 4 CHRNA5 15q24 cholinergic receptor, nicotinic, alpha polypeptide 5 CHRNA3 15q24 cholinergic receptor, nicotinic, alpha polypeptide 3 CHRNB4 15q24 cholinergic receptor, nicotinic, beta polypeptide 4 LOC390612 15 similar to ribosomal protein L18; 60S ribosomal protein L18 LOC388142 15 LOC388142 LOC390613 15 similar to Dynamin-1 (D100) (Dynamin, brain) (B-dynamin) ADAMTS7 15pter-qter a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7 LOC390614 15 similar to cDNA sequence BC053073; G-protein coupled receptor SALPR; somatostatin and angiotensin-like peptide receptor LOC388143 15 similar to 60S ribosomal protein L21 MORF4L1 15q24 mortality factor 4 like 1 CTSH 15q24-q25 cathepsin H RASGRF1 15q24 Ras protein-specific guanine nucleotide-releasing factor 1 LOC390615 15 similar to HNRPC protein
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 2468 52.9 468 - Elliott (1996)
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivestomach   highly
    Endocrineneuroendocrinepituitary  highly
    Urinarybladder   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a large N terminal extracellular domain
  • two agonist binding sites
  • four transmembrane (4TM) segments with the M2 domain comprising the cation-selective pore
  • HOMOLOGY
    Homologene
    FAMILY
  • cholinergic receptor family
  • ligand gated ion channel family
  • CATEGORY receptor , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • after binding acetylcholine, responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane
  • involved in susceptibility to alcohol dependence (Joslyn 2009)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • composed of two different type of subunits: alpha and non-alpha
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to lung cancer
  • to alcohol and nicotine use disorders
  • to nicotine dependence and lung cancer (Spitz 2008)
  • Variant & Polymorphism SNP
  • rs8034191
  • variants were associated with higher risks of lung cancer in lower smoking-exposed strata, and in individuals with a strong family history of lung or smoking-related cancers (Spitz 2008)
  • Candidate gene for low penetrance, high-frequency lung cancer susceptiblity genes
    Marker
    Therapy target
    ANIMAL & CELL MODELS