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FLASH GENE
Symbol ACHE contributors: mlc/npt/pgu - updated : 19-09-2023
HGNC name acetylcholinesterase (Yt blood group)
HGNC id 108
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
    intracellular,nuclear envelope
    text
  • membrane
  • the catalytic subunits of acetylcholinesterase (ACHE) are anchored in the basal lamina of the neuromuscular junction using a collagen-like tail subunit (ColQ) encoded by COLQ
  • 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
  • ACHE hydrolyzes acetylcholine (ACh) to acetate and choline and thereby terminates nerve impulse transmission
  • role of ACHE in erythroblast maturation, which provided an insight in elucidating possible mechanisms in regulating erythropoiesis
  • 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
  • interaction of COLQ to perlecan and MUSK is crucial for anchoring ACHE to the neuromuscular junction (NMJ)
  • COLQ anchors acetylcholinesterase (ACHE) in the synaptic cleft of the neuromuscular junction (NMJ)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) YT
    related resource Blood Group Antigen Mutation Database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in Alzheimer disease (AD) decrease in the enzymatic activity of the enzyme acetylcholinesterase
    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
    neurologyneurodegenerativealzheimer
    Acetylcholinesterase (AChE) has obtained a renewed interest as a therapeutic target in Alzheimer's disease (AD) due to increased neural cells' function by increasing the concentration of acetylcholine
    ANIMAL & CELL MODELS
  • significant decrease in trabecular perimeter of lumbar vertebrae and cortical area fraction (Ct.Ar/Tt.Ar) in the mid-diaphysis of femurs of AChE-KO mice compared to their WT