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FLASH GENE
Symbol ACHE contributors: mlc/npt/pgu - updated : 03-12-2012
HGNC name acetylcholinesterase (Yt blood group)
HGNC id 108
Corresponding disease
YT YT blood group
Location 7q22.1      Physical location : 100.487.615 - 100.493.541
Synonym name
  • Cartwright blood group
  • acetylcholinesterase PI-linked form precursor
  • acetylcholinesterase hydrophilic form precursor
  • apoptosis-related acetylcholinesterase
  • Synonym symbol(s) YT, ARACHE, N-ACHE, ACEE
    EC.number 3.1.1.7
    DNA
    TYPE functioning gene
    STRUCTURE 5.93 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    text all of these three variants contain the exons E1, E2, E3, and E4 at its N terminus, diverging in their C terminus sequence
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 2225 67 614 ubiquitous 2007 17606622
  • also called ACHE - Variant E4-E6, or ACHE-S
  • synaptic form, which is the most frequent splicing variant in brain and muscle cells, adds just one more exon to the common core, E6
  • 5 splicing 2978 - 617 erythroid tissues 2007 17606622
  • also called ACHE - Variant E4-E5, or ACHE-R
  • having exon E5
  • readthrough (AChE-E) differs from the erythrocyte (AChE-S) by the possession of an additional intron I4
  • - - - 55 - in endothelial cells, but also in non-neuronal and neuronal cells 2007 17606622
  • decreased in response to vascular endothelial growth factor via the proteosomes pathway
  • may contribute to an angiogenic response and associate with tumorigenesis
  • exclusively nuclear expression in postnatal neurons in contrast to a cytoplasmic and nuclear expression in embryonic neurons
  • in the nuclear and insoluble cytoskeleton fractions
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestivemouthtongue  highly
    Nervousspinal cordanterior horn  highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Muscularstriatum    Homo sapiens
    Nervouscentral   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Cardiovascularendothelial cell
    Lymphoid/Immunelymphocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES Hydrophilic
    STRUCTURE
    motifs/domains
  • two putative HNF3 binding sites (one is HNF3 binding enhancer domain)
  • a structural site promoting neurite outgrowth and binding laminin-1 and collagen IV
  • mono polymer homomer , tetramer
    HOMOLOGY
    interspecies homolog to murine Ache
    Homologene
    FAMILY
  • type b carboxylesterase/lipase family
  • CATEGORY enzyme , signaling neurotransmitter
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,nucleus
    text membrane
    basic FUNCTION
  • responsible for the hydrolysis of the neurotransmitter acetylcholine and therefore the termination of the neural impulse
  • involved in the signal transmission at neuromuscular junction
  • hydrolyzing the neurotransmitter, acetylcholine at neuromuscular junctions and brain cholinergic synapses, and thus terminates signal transmission
  • associates differently with its anchoring proteins COLQ and PRiMA1
  • terminates signal transmission at chemical synapses by degrading the neurotransmitter acetylcholine and was found to play a role in plaque formation in Alzheimer disease
  • responsible for the hydrolysis of the neurotransmitter, acetylcholine, in the nervous system
  • implicated in the pathogenesis of Alzheimer disease (AD) and it has been shown that it accelerates formation and increases toxicity of amyloid fibrils, which have been closely linked to the pathology of AD
  • can be considered a highly co-opting protein, which can combine enzymatic and non-enzymatic functions within one molecule
  • ACHE is a cholinergic and agrin a synaptogenetic component of the neuromuscular junction
  • common features of ACHE and agrin extend to their capacity to play multiple roles in muscle development
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling neurotransmission
    a component
  • homotetramer, composed of disulfide-linked homodimers
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with PRIMA1, interaction required to anchor it to the basal lamina of cells and organize into tetramers
  • PUM2 binds to the ACHE transcripts in a complex and regulates ACHE expression translationally at the neuromuscular synapse
  • ACHE activity in plasma is correlated with brain APP load
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) YT
    related resource Blood Group Antigen Mutation Database
    Susceptibility to neurodegenerative diseases
    Variant & Polymorphism other variants putatively involved in neurodegenerative diseases
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurologyneurodegenerativealzheimer
    AChE) enzyme inhibition is an important target for the management of Alzheimer disease (AD) and ACHE inhibitors are the main stay drugs for its management
    ANIMAL & CELL MODELS