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FLASH GENE
Symbol PLAG1 contributors: mct/npt - updated : 17-04-2010
HGNC name pleiomorphic adenoma gene 1
HGNC id 9045
Location 8q12.1      Physical location : 57.073.468 - 57.123.859
Synonym name
  • COL1A2/PLAG1 fusion
  • zinc finger protein PLAG1
  • Synonym symbol(s) ADPL, PSA2, PSA, SGPA
    DNA
    TYPE functioning gene
    SPECIAL FEATURE head to head
    text located head-to-head with CHCHD7 about 500 bp apart in 8q12
    STRUCTURE 50.39 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D8S593 - D8S165 - D8S1828 - LYN - MOS - D8S285 - PLAG1 /D8S83 - PENK - D8S1816 - D8S166 - D8S96 - D8S1661 - D8S108 - D8S125 - D8S1069 - qter
    Authors Kas (97)
    Physical map
    SOX17 8q11,22 SRY (sex determining region y)-box 17 LOC389659 8 hypothetical gene supported by BC028018 LOC392222 8 similar to RIKEN cDNA 0610038D11 LOC157708 8q11.23 similar to SPC18 protein RP1 8q11.21-q11.23 retinitis pigmentosa 1 (autosomal dominant) LOC392223 8 similar to ribosomal protein L7-like 1 LOC389660 8 similar to polycystin 1-like 3 LOC392224 8 similar to hypothetical protein 4932417K07 KIAA1889 8q11.23 KIAA1889 protein FLJ32370 8q11.23 hypothetical protein FLJ32370 NCOA6IP 8p11 nuclear receptor coactivator 6 interacting protein LYN 8q13 v-yes-1 Yamaguchi sarcoma viral related oncogene homolog PSMC6P 8q11.23 proteasome (prosome, macropain) 26S subunit, ATPase, 6 pseudogene RPS20 8 ribosomal protein S20 MOS 8q11 v-mos Moloney murine sarcoma viral oncogene homolog PLAG1 8q12 pleiomorphic adenoma gene 1 MGC2217 RDH-E2 8q12.1 retinal short chain dehydrogenase reductase PENK 8q11.23-q12 proenkephalin LOC389662 8 similar to septin 10 isoform 1 LOC346950 8q11.23 similar to ribosomal protein L37 FLJ20421 8q11.23 hypothetical protein FLJ20421 DKFZP434F122 8q12.1 DKFZP434F122 protein LOC389663 8 similar to hypothetical protein
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 6874 - 418 - Kas (1998)
    4 - 7233 - 500 - Kas (1998)
    5 - 7338 - 500 - Kas (1998)
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouth    
     pharynx    
     salivary gland    
    Endocrineneuroendocrinepituitary   
    Gustatory (taste)earinnercochlea  
    Respiratoryrespiratory tractlarynx   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandular  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text lung, liver, kidney, rain
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • seven zinc fingers, C2H2 type
  • serine-rich C terminus
  • two putative nuclear localization signals (NLS)
  • HOMOLOGY
    Homologene
    FAMILY
  • krueppel C2H2-type zinc-finger protein family
  • CATEGORY transcription factor , protooncogene
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • implicated in the molecular pathogenesis of hepatoblastoma
  • transcription factors from the PLAG family of cell cycle progression-related DNA-binding proteins, involved in transcriptional induction of ABCC6 (Ratajewski 2008)
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to NLS1 of PLAG1 and during its nuclear import
  • cell & other
    REGULATION
    activated by the reciprocal chromosomal translocations involving 8q12 in a subset of salivary gland pleomorphic adenomas
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    fused with beta catenin in adenomas with translocation t(3;8)(p21;q12), TCEA1, with t(3;8)(p21;q12) in salivary adenomas
    tumoral       gain of function
    activated by 'promoter-swapping'in Lipoblastoma (Ropke 2007)
    tumoral fusion      
    CHCHD7-PLAG1 fusions in pleomorphic salivary gland adenomas
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS