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FLASH GENE
Symbol MTNR1A contributors: mct - updated : 21-11-2012
HGNC name melatonin receptor 1A
HGNC id 7463
Location 4q35.2      Physical location : 187.454.808 - 187.476.537
Synonym symbol(s) MEL-1A-R, MT1
DNA
TYPE functioning gene
STRUCTURE 21.73 kb     2 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
2 - 1105 - 350 - -
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
 braindiencephalonpituitary highly Mus musculus
Digestivesalivary gland     Rattus norvegicus
Endocrineadrenal gland     Rattus norvegicus
Nervousbraindiencephalonhypothalamus   Rattus norvegicus
 braindiencephalonhypothalamussuprachiasmatic nuclei 
Reproductivemale systemtestis   
Urinarykidney     Rattus norvegicus
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
Nervouscentral   
cells
SystemCellPubmedSpeciesStageRna symbol
Endocrineislet cell (alpha,beta...)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • seven transmembrane segments (7TM) receptor
  • C-terminal domain involved in internalization processes
  • HOMOLOGY
    Homologene
    FAMILY G protein coupled receptor superfamily
    CATEGORY receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    text
  • high levels in mitochondria from the brains of wild-type mice
  • basic FUNCTION
  • functional significance of melatonin and MTNR1A in the mammalian retina
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS circadian , reproduction/sex
    text
  • circadian,mediated by the suprachiasmatic receptor
  • reproduction,mediated by the hypophyseal pars tuberalis
  • PATHWAY
    metabolism
    signaling hormonal
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    activated by melatonin that is involved in the regulation of adrenal glucocorticoid production in diurnal primates through activation of MTNR1A membrane-bound melatonin receptors
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    mutant HTT-induced loss of MTNR1A, enhances neuronal vulnerability and potentially accelerates the neurodegenerative process
    constitutional     --low  
    in regions affected by Parkinson disease suggesting their possible involvement in the disease process
    Susceptibility
  • to Circadian rhythm sleep disorders
  • to recurrent calcium nephrolithiasis
  • to attention-deficit/hyperactivity disorder (ADHD)
  • to polycystic ovary syndrome (PCOS)
  • Variant & Polymorphism
  • disorders with variants R54W and A157V more prominent in a Japanese population
  • strong association between allelic variants of MTNR1A and recurrent calcium nephrolithiasis
  • one stop mutation in MTNR1A (Y170X) - detected exclusively in patients with ADHD
  • SNP rs2119882 is associated with PCOS
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • high levels of Mtnr1a in mitochondria from the brains of wild-type mice but much less in brains from Huntington disease mice