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FLASH GENE
Symbol CHRM1 contributors: mct - updated : 16-11-2011
HGNC name cholinergic receptor, muscarinic 1
HGNC id 1950
Location 11q12.3      Physical location : 62.676.151 - 62.689.012
Synonym name muscarinic acetylcholine receptor M1
Synonym symbol(s) HM1, M1, MGC30125, M1R
DNA
TYPE functioning gene
STRUCTURE 12.86 kb     2 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
EEF1G 11q13.2 eukaryotic translation elongation factor 1 gamma FLJ22347 11q12.2 hypothetical protein FLJ22347 MTA2 11q12-q13.1 metastais-associated gene family, member 2 FLJ35827 11q12.3 hypothetical protein FLJ35827 ROM1 11q13.1 retinal outer segment membrane protein 1 B3GAT3 11q12.2 beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) G2AN 11q12.3 alpha glucosidase II alpha subunit KIAA1698 11q12.3 KIAA1698 protein MGC2477 11q12.3 hypothetical protein MGC2477 LOC51035 11q12.3 ORF LOC221091 11q12.3 similar to hypothetical protein BSCL2 11q12.q13.5 Bernardinelli-Seip congenital lipodystrophy 2 (seipin) GNG3 11p11 guanine nucleotide binding protein (G protein), gamma 3 DKFZp762N1910 11q12.3 hypothetical protein DKFZp762N1910 MGC29649 11q12.3 hypothetical protein MGC29649 ZBTB3 11q12.3 zinc finger and BTB domain containing 3 POLR2G 11q13.1 polymerase (RNA) II (DNA directed) polypeptide G TAF6L 11q13.1 TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa LOC387617 11 hypothetical gene supported by NM_018336 LOC374395 11q12.3 similar to RIKEN cDNA 1810059G22 NXF1 11q12-q13 nuclear RNA export factor 1 STX5A 11cen-q12.1 syntaxin 5A FLJ10439 11q12.3 hypothetical protein FLJ10439 SLC3A2 11q12-q22 solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 CHRM1 11q12-q13 cholinergic receptor, muscarinic 1 SLC22A6 11q13.1-q13.2 solute carrier family 22 (organic anion transporter), member 6 SLC22A8 11q11.7 solute carrier family 22 (organic anion transporter), member 8 LOC390207 11 similar to Tubulin alpha-4 chain (Alpha-tubulin 4) LOC390208 11 similar to ribosomal protein L29 MGC34821 11q12.3 hypothetical protein MGC34821 LOC387601  putative UST1-like organic anion transporter
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
2 - 2863 - 460 - 2001 11855742
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinelarge intestinecolon highly Homo sapiens
Nervousbrainforebraincerebral cortex highly Homo sapiens
 brainlimbic systemhippocampus highly Homo sapiens
Reproductivemale systemprostate   
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron Homo sapiens
Nervouspyramidal cell Homo sapiens
Skin/Tegumentmelanocyte
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
seven transmembrane segments (7TM) receptor
secondary structure
  • 14 AAs, Asn422 to Cys435, C-terminal to transmembrane (TM) helix 7 form potentially an eighth (H8) helix, associated with the cytoplasmic surface of the cell membrane in the active state of the receptor (
  • HOMOLOGY
    Homologene
    FAMILY G protein coupled receptor superfamily, k1 cholinergic receptor
    CATEGORY receptor , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • involved in mediation of vagally-induced bronchoconstriction and in the acid secretion of the gastrointestinal tract
  • facilitate cue detection behaviors and is both necessary and sufficient for most direct effects of ACh on pyramidal neuron excitability
  • role in mediating enteric cholinergic neurotransmission
  • CHRM1, and CHRM4, are the major muscarinic ACh receptors subtypes responsible for direct cholinergic modulation of the excitatory hippocampal circuit
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with caveolins (caveolins play a role in the attenuation of CHRM1 intracellular trafficking to and from the plasma membrane)
  • PPP1R9B is a RGS8-interacting protein (CHRM1 and PPP1R9B compete for binding to RGS8)
  • indirect binding of RGS8 to the CHRM1 through PPP1R9B for an efficient regulatory function
  • ACCN2 is a novel target for muscarinic signaling, and CHRM1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in schizophrenia
    tumoral   deletion    
    in neuroblastoma
    Susceptibility
  • to numerous inflammatory diseases, including sepsis, Crohn disease and pancreatitis
  • Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS