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FLASH GENE
Symbol POMC contributors: mct - updated : 03-05-2013
HGNC name proopiomelanocortin
HGNC id 9201
Corresponding disease
OARH early-onset obesity, adrenal insufficiency and red hair pigmentation
Location 2p23.3      Physical location : 25.383.721 - 25.391.559
Synonym name
  • beta-lipotropin
  • alpha-melanocyte stimulating hormone
  • beta-melanocyte stimulating hormone
  • beta-endorphin
  • adrenocorticotropic hormone
  • adrenocorticotropin
  • Synonym symbol(s) POC, ACTH, CLIP, MSH
    DNA
    TYPE functioning gene
    STRUCTURE 7.84 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    cytosine-phosphate-guanine/HTF
    Binding site   HRE
    text structure
  • pituitary expression of the POMC gene relies on an upstream enhancer that complements the activity of the proximal promoter with TBX19 as the major regulator of both regulatory regions
  • MAPPING cloned Y linked Y status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 1295 - 267 - 2007 17317724
    4 - 1245 - 267 - 2007 17317724
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitarypars intermedia highly Homo sapiens
     neuroendocrinepituitarypars distalis   Homo sapiens
    Respiratorylung   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    a stretch of polyglutamine
    HOMOLOGY
    interspecies homolog to murine Pomc1
    Homologene
    FAMILY pomc family
    CATEGORY signaling hormone
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,cytosolic,granule
    basic FUNCTION
  • stimulating the adrenal glands to release cortisol
  • ACTH/melanocortin precursor, secreted by epidermal keratinocytes and melanocytes and stimulating melanogenesis
  • POMC expressing neurons mediate the regulation of orexigenic drive by peripheral hormones such as leptin, cholecystokinin, ghrelin, and insulin
  • POMC-derived neuropeptide beta-MSH plays a critical role in the hypothalamic control of body weight
  • polypeptide hormone precursor, playing an important role in the regulation of the Hypothalamic-pituitary-adrenal, and is prone to epigenetic regulation due to promoter-related DNA methylation
  • essential involvement of POMC peptides and of adrenal glucocorticoids and catecholamines on glucose homeostasis critical for early postnatal survival
  • prohormone which undergoes extensive tissue and cell specific post-translational processing producing a number of active peptides with diverse biological roles ranging from control of adrenal function to pigmentation to the regulation of feeding
  • in addition to its role in pigmentation, POMC also reduces oxidative stress and enhances the repair of DNA photoproducts in melanocytes, independent of melanin synthesis
  • increases UV-induced phospho H2AFX to facilitate formation of DNA repair complexes and repair of DNA photoproducts
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
  • activation of the MC1R/POMC signaling pathway has been implicated in the regulation of both inflammation and extracellular matrix homeostasis
  • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction with ESR1 (ESR1 plays an essential role in leptin- and insulin-stimulated upregulation of the POMC gene and this action is likely mediated in a ligand-independent manner)
  • interacting with PTPN1 (in POMC neurons plays a role in short-term cold-induced reduction of spontaneous physical activity and may influence cold-induced thermogenesis via enhanced activation of the thyroid axis
  • ETV1 is a putative POMC transcription factor
  • CNR1 activation did not engage the key regulator of skin pigmentation, cyclic AMP, showing a major difference compared with the regulation of melanogenesis by POMC through MC1R
  • AKT1 and its downstream MTOR signaling mediates POMC-induced survival in retinal pigment epithelium cells
  • MC1R-activation by POMC stimulating eumelanin synthesis and enhancing repair of ultraviolet radiation (UV)-induced DNA damage
  • cell & other
    REGULATION
    activated by NEUROD1, that activates POMC transcription through dimer formation with various ubiquitous basic helix-loop-helix partners
    leptin (Leptin activation of POMC neurons increases thermogenesis and locomotor activity)
    phospho-STAT3 that activates POMC promoter in response to leptin signaling through a mechanism that requires an SP1-binding site in the POMC promoter
    Other CNTF may directly modulate POMC gene expression via the activation of receptors localized in the cell nucleus, providing a novel plausible mechanism of CNTF action in regulating energy homeostasis
    ASSOCIATED DISORDERS
    corresponding disease(s) OARH
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional fusion      
    aberrant fusion protein interfering with signalling through the MC4R and increasing the risk of obesity
    constitutional germinal mutation      
    associated with early onset obesity, adrenal insufficiency, and red hair pigmentation
    Susceptibility
  • to obesity (early onset)
  • to opioid dependence
  • to alcohol dependence
  • Variant & Polymorphism other
  • mutation R236G
  • 8246C>T significantly associated with leptin and/or body fat deposition
  • DNA methylation of the POMC gene promoter is associated with craving in alcohol dependence
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS