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FLASH GENE
Symbol SLC5A7 contributors: mct - updated : 12-01-2013
HGNC name solute carrier family 5 (choline transporter), member 7
HGNC id 14025
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies homolog to rattus Cht1
ortholog to murine Slc5a7
homolog to drosophila CG7708
ortholog to C.elegans cho-1
intraspecies homolog to SGLT
Homologene
FAMILY
CATEGORY transport channel
SUBCELLULAR LOCALIZATION     plasma membrane
text
  • predominantly localized to the epithelial cell membranes, in case of ciliated tracheal cells it was restricted to the apical membrane
    • basic FUNCTION
  • expressed in cholinergic neurons and efficiently transported to axon terminals where it controls the rate-limiting step in acetylcholine synthesis
  • is present in central cholinergic neurons and cholinergic neurotransmission is important for cognitive and behavioral functions
  • critical determinant of synaptic acetylcholine (ACh) synthesis and release at the neuromuscular junction (NMJ)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text choline transporter
    PATHWAY
    metabolism other
    signaling
    acetylcholine biosynthesis
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • NEDD4L mediated ubiquitination regulates the cell surface expression of SLC5A7
    • cell & other
    REGULATION
    Other overexpressed CHAT enhanced transcription of the SLC5A7 gene
    ASSOCIATED DISORDERS
    corresponding disease(s) DHMN7A , CMS20
    Susceptibility to heart rate variability
    Variant & Polymorphism other heart rate variability is associated with polymorphic variation in SLC5A7
    Candidate gene
  • SLC5A7 or its regulation should be considered as a potential contributor to idiopathic motor neuronopathies
    • Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurologyneurodegenerativealzheimer
    drugs which inhibit the interaction between SLC5A7 and NEDD4L might be useful for diseases involving decrease in acetylcholine level such as Alzheimer disease
    ANIMAL & CELL MODELS
    Slc5a7-knockout mice display early postnatal paralysis, cyanosis, and lethality