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FLASH GENE
Symbol SLC18A1 contributors: mct - updated : 04-05-2020
HGNC name solute carrier family 18 (vesicular monoamine), member 1
HGNC id 10934
DNA
TYPE functioning gene
STRUCTURE 20.00 kb     16 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
17 - 2974 - 525 - 2019 31317476
16 - 2840 - 472 - 2019 31317476
16 - 2791 - 493 - 2019 31317476
16 - 2683 - 525 - 2019 31317476
14 splicing - - - expressed in normal and neoplastic neuroendocrine cells of the GI tract 2005 16326835
  • lacks exon 15, the next to last exon of VMAT1
  • cannot take up serotonin
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineadrenal gland    
    Nervousbrain     Homo sapiens
    Urinarykidneytubuleconvoluted tubuleproximal tubule  Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose    Homo sapiens
    Epithelialsecretoryglandularendocrine 
    cells
    SystemCellPubmedSpeciesStageRna symbol
    not specificadipocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • monoamine transport protein with twelve transmembrane spanning segments (12TM)
  • HOMOLOGY
    Homologene
    FAMILY solute carrier family 18, vesicular monoamine
    CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    text
  • presence of SLC18A1 and SLC18A2, and the colocalization of SLC18A2 with norepinephrine, in the cytoplasm of adipocytes in mesenteric resistance vessel Perivascular adipose tissue (PVAT)
  • basic FUNCTION
  • tubular SLC18A1 mRNA and protein expression were significantly upregulated during a high-sodium diet and it is involved in regulation of dopamine secretion
  • SLC18A1, SLC18A2 are involved in presynaptic catecholamine storage and neurotransmission
  • may be relevant to the pathogenesis and/or treatment of psychiatric illnesses including schizophrenia and bipolar disease
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • NR4A2 is an orphan transcription factor that influences the expression of several key proteins of dopaminergic (DA) neurons, including tyrosine hydroxylase (TH), dopamine transporter (SLC6A3), and vesicular monoamine transporter (SLC18A1)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    confer functional changes and multi-directional evolution in the regulation of monoamine circuits
    tumoral     --over  
    associated with a significantly increased survival in patients with lung adenocarcinoma, but not those with squamous carcinoma
    Susceptibility
  • to Autism Spectrum Disorders (ASD)
  • to anxiety, affective, and alcohol use disorders
  • Variant & Polymorphism SNP
  • rs1390938 [Thr136Ile])is significant over-presented in ASD
  • SLC18A1 rs1390938/Thr136Ile is associated with mood, personality, and alcohol use in the general population
  • SLC18A1 polymorphisms influence monoamine signaling, the functional response of emotional brain circuits and risk for psychopathology
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • VMAT1 KO mice have decreased dopamine levels in the frontal cortex, increased postsynaptic D2 expression, and lower frontal cortex tyrosine hydroxylase expression compared to WT mice