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Symbol PLAGL1 contributors: mct - updated : 17-02-2016
HGNC name pleiomorphic adenoma gene-like 1
HGNC id 9046
Corresponding disease
TNDM transient neonatal diabetes mellitus
UPD6P chromosome 6 uniparental disomy, paternal
Location 6q24.2      Physical location : 144.261.438 - 144.385.735
Synonym name
  • rat lot-1 (lost in transformation 1)
  • Zac tumor suppressor
  • PLAG-like 1
  • Synonym symbol(s) LOT1, ZAC1, ZAC, PAL1, MGC126275, MGC126276, DKFZp781P1017
    TYPE functioning gene
    STRUCTURE 124.30 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure
  • a CpG island overlapping exon 1of PLAGL1/HYMAI is differentially methylated in somatic cells
  • independently-regulated P2 promoter, within CpG island , with biallelic expression, having important implications in cancer and neonatal diabetes
  • MAPPING cloned Y linked N status confirmed
    Map cen - C6orf56 - PLAGL1 - HYMAI - qter
    Authors Arima (01)
    Text see ST8
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 splicing 2949 - 411 - 1998 9722527
    7 splicing 3411 - 463 - 1998 9722527
    8 - 3284 - 463 - 1998 9722527
    7 - 3425 - 463 - 1998 9722527
    7 - 3379 - 463 - 1998 9722527
    7 - 3778 - 463 - 1998 9722527
    6 - 2733 - 411 - 1998 9722527
    6 - 2917 - 411 - 1998 9722527
    Type ubiquitous
       expressed in (based on citations)
    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
    at STAGE
    IMPRINTING maternally
  • ubiquitous, from the paternal allele
  • maternally imprinted in neonatal diabetes
  • biallelic in peripheral blood leukocytes
  • seven zinc finger motifs C2H2 type
    interspecies homolog to murine Zac1
  • krueppel C2H2-type zinc-finger protein family
  • CATEGORY regulatory , transcription factor , tumor suppressor
    SUBCELLULAR LOCALIZATION     intracellular
    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
    text arrest
    a component
    small molecule
  • 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
    Other regulated by alternative splicing and by impriting
    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