Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol PLAGL1 contributors: mct - updated : 17-02-2016
HGNC name pleiomorphic adenoma gene-like 1
HGNC id 9046
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly Homo sapiens
Endocrineadrenal gland   highly
Reproductivefemale systemplacenta  highly
Respiratoryrespiratory tractlarynx  highly
cell lineage
cell lines
fluid/secretion
at STAGE
IMPRINTING maternally
text
  • ubiquitous, from the paternal allele
  • maternally imprinted in neonatal diabetes
  • biallelic in peripheral blood leukocytes
    • 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