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FLASH GENE
Symbol MC3R contributors: mct - updated : 15-05-2017
HGNC name melanocortin 3 receptor
HGNC id 6931
Location 20q13.2      Physical location : 54.823.787 - 54.824.871
Synonym symbol(s) MCR3, MC3
DNA
TYPE functioning gene
STRUCTURE 1.08 kb     1 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
Binding site   transcription factor
text structure
  • minimum promoter region required for MC3R expression with two binding sites for AP-1 and ATF4 and in the 5prime upstream-flanking region of MC3R that are essential for MC3R expression
    • MAPPING cloned Y linked N status provisional
    regionally located mapped to the same region as the locus for benign neonatal epilepsy
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    1 - 1084 - 360 - 2004 15292330
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestine    
    Endocrineneuroendocrinepituitary    Homo sapiens
    Nervousbraindiencephalonhypothalamus highly Homo sapiens
     brainlimbic system    Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • seven transmembrane segments (7TM) receptor
  • a DPLIY motif and helix 8, important for MC3R activation and signal transduction
  • cytoplasmic end of TM3 and the intracellular loop 2 (ICL2) were critical for MC3R function
    • conjugated GlycoP , LipoP , PhosphoP , Other
    HOMOLOGY
    interspecies ortholog to murine Mc3r
    homolog to C.elegans Y62H9A.1
    Homologene
    FAMILY
  • family A rhodopsin-like G protein-coupled receptors
    • CATEGORY receptor membrane G
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • acting as a receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone that is expressed in tissues other than the adrenal cortex and melanocytes
  • having a physiological effects on the cardiovascular system arising from effects on the central nervous system
  • important regulator of energy homeostasis, inflammation, and cardiovascular function
  • required for expression of anticipatory patterns of activity and wakefulness during periods of limited nutrient availability and for normal regulation of cortical clock function
  • required for synchronizing metabolism during entrainment to restricted feeding during the light cycle
  • influencing body composition, natriuresis, immune function, and entrainment of circadian rhythms to nutrient intake
  • is required for communicating nutritional status to both central and peripheral tissues involved in nutrient partitioning
  • specific role for MC3R–containing circuits in communicating nutritional status to the hypothalamic-pituitary-adrenal (HPA) axis and in appropriately regulating nutrient partitioning from white adipose tissue (WAT) to liver in response to fasting
  • in the paraventricular nucleus (PVN), may exert a tonic excitatory effect on sympathetic activity
  • regulates several physiological functions, including feed efficiency, nutrient partitioning, fasting response, natriuresis, and immune reactions
  • is involved in the control of feeding, energy metabolism, and pituitary function
  • intact melanocortin signaling via the G protein-coupled receptors (GPCRs), MC4R and MC3R is crucial for body weight maintenance
  • neural melanocortin receptors (MCRs), MC3R and MC4R, play crucial roles in the regulation of energy homeostasis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text energy homeostasis
    PATHWAY
    metabolism
    signaling hormonal , signal transduction
    coupled to both cAMP and inositol phospholipid/Ca(2+)-mediated signaling systems
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • RNF11 inhibits MC3R, MC4R signaling
    • cell & other
    REGULATION
    Other regulated by estradiol-17 beta
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    increase adiposity, reduce lean mass and white adipose tissue inflammation, and increase sensitivity to salt-induced hypertension
    constitutional   deletion    
    resulted in features common to Cushing syndrome including increased adiposity, decreased lean mass, decreased immune function, and increased sensitivity to salt-induced hypertension
    Susceptibility
  • to severe obesity
  • to tuberculosis
    • Variant & Polymorphism SNP , other
  • mutation I183N completely abolishes agonist-mediated receptor activationand is associated to severe obesity
  • A293T, I335S and X361Sassociated to morbid obesity
  • SNP rs6127698 in the promoter region of MC3R showed significant association with tuberculosis susceptibility
  • C allele of rs11575886 could be a risk allele for the pulmonary TB by affecting the binding of transcription binding factor (TF)
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Mc3r(-/-) mouse exhibits mild obesity without hyperphagia or hypometabolism