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FLASH GENE
Symbol PLAGL1 contributors: mct - updated : 17-02-2016
HGNC name pleiomorphic adenoma gene-like 1
HGNC id 9046
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • seven zinc finger motifs C2H2 type
    • HOMOLOGY
    interspecies homolog to murine Zac1
    Homologene
    FAMILY
  • krueppel C2H2-type zinc-finger protein family
    • CATEGORY regulatory , transcription factor , tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • transcriptional regulator of the type 1 receptor for pituitary adenylate cyclase-activating polypeptide
  • growth suppressor gene with antiproliferative activity
  • may regulate CDKN1C through KCNQ1OT1, forming part of a novel signaling pathway regulating cell growth
  • has an essential role in cell number control during retinal development
  • transcription factors from the PLAG family of cell cycle progression-related DNA-binding proteins, involved in transcriptional induction of ABCC6 (Ratajewski 2008)
  • may be a regulator of cardiomyocyte SLC2A4 expression and glucose uptake (Czubryt 2010)
  • maternally imprinted gene and is the first such gene found to be involved in heart development
  • plays an essential role in the cardiac gene regulatory network
  • is a histone acetylation-regulated suppressor of NFKB, which is induced and implicated in HDAC inhibitor-mediated embryonic carcinoma (EC) cell apoptosis
  • might serve as an SP1-like protein that directly interacts with the SP1-responsive element to oligomerize with and/or to coactivate SP1
  • its functions are regulated, at least in part, via non-covalent interactions with SUMO1 for the induction of CDKN1A, which is important for the modulation of apoptosis
  • is a negative regulator of the acute stimulatory effects of glucose on beta-cells
    • CELLULAR PROCESS cell life, cell death/apoptosis
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    text arrest
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with WBSCR22 (WBSCR22 suppressed PLAGL1 expression with histone H3 methylation at Lys(9) in the PLAGL1 promoter)
  • might act as a transcriptional repressor via the recruitment of histone deacetylase 1 (HDAC1)
  • CDKN1A may be an important factor for the prevention of PLAGL1-induced apoptosis without affecting autophagosome formation
  • PLAGL1 interacts with TCF4, and PLAGL1 and TCF4 expression concomitantly increased during neuronal progenitor differentiation
  • controls cell cycle arrest function in neuronal progenitors through induction of CDKN1C via TCF4
  • transcription factor MEF2A and PLAGL1 mediate MIF-induced SLC2A4 expression through CD74-dependent AMPK activation in cardiomyocytes
  • PLAGL1 interacts likely directly with PAX7, which can regulate GPR39 expression by activating PLAGL1
    • cell & other
    REGULATION
    Other regulated by alternative splicing and by impriting
    ASSOCIATED DISORDERS
    corresponding disease(s) UPD6P , TNDM
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in breast cancer
    constitutional germinal mutation   --low  
    by partial and complete hypomethylation in Beckwith-Wiedemann syndrome (Bliek (2009)
    tumoral     --low  
    is a contributing factor in the development of extraskeletal myxoid chondrosarcoma tumors
    tumoral     --low  
    with SSTR2, are underexpressed in non-functioning pituitary adenomas (NFPA), compared to somatotropinomas and normal pituitaries
    Susceptibility TNDM
    Variant & Polymorphism SNP
    Candidate gene
  • putative candidate for transient neonatal diabetes mellitus (TNDM)
    • Marker
    Therapy target
    ANIMAL & CELL MODELS