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 : 17-02-2014
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
    DNA
    TYPE functioning gene
    STRUCTURE 124.30 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    cytosine-phosphate-guanine/HTF
    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
    Physical map
    LOC340149 6q24.1 hypothetical LOC340149 LOC391976 6 similar to SUMO-1 activating enzyme subunit 2 NMBR 6q23 neuromedin B receptor C6orf55 6q24.1 chromosome 6 open reading frame 55 GPR126 6q23.1-q24.3 G protein-coupled receptor 126 HIVEP2 6q23-q24 human immunodeficiency virus type I enhancer binding protein 2 AIG1 6q24.1 androgen-induced 1 DEADC1 6q24.1 deaminase domain containing 1 LOC391977 6 similar to dJ20N2.2 (novel protein similar to tubulin, beta polypeptide 4, member Q (TUBB4Q)) PEX3 6q23-q24 peroxisomal biogenesis factor 3 FUCA2 6q25-qter fucosidase, alpha-L- 2, plasma C6orf56 6q24.1 chromosome 6 open reading frame 56 C6orf93 6q24.1 chromosome 6 open reading frame 93 LOC153918 6q24.1 similar to CGI-62 protein PLAGL1 6q25 pleiomorphic adenoma gene-like 1 SF3B5 6q24.1 splicing factor 3b, subunit 5, 10kDa MRPL42P3 6q24.2 splicing factor 3b, subunit 5, 10kDa STX11 6q23.1-q25.3 syntaxin 11 LOC285741 6q24.1 similar to Translationally controlled tumor protein (TCTP) (p23) (Histamine-releasing factor) (HRF) UTRN 6q24 utrophin (homologous to dystrophin) LOC391978 6 similar to ZNF131 protein EPM2A 6q24.3 epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) FBXO30 6q24 F-box protein 30 SHPRH 6q24.2 SNF2 histone linker PHD RING helicase GRM1 6q24 glutamate receptor, metabotropic 1 RAB32 6q24.3 RAB32, member RAS oncogene family LOC389431 6 similar to hypothetical protein 9130014G24
    RNA
    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
    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
  • 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
    Susceptibility TNDM
    Variant & Polymorphism SNP
    Candidate gene
  • putative candidate for transient neonatal diabetes mellitus (TNDM)
  • Marker
    Therapy target
    ANIMAL & CELL MODELS