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FLASH GENE
Symbol PITX1 contributors: mct/npt - updated : 06-11-2011
HGNC name paired-like homeodomain 1
HGNC id 9004
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • POU specific and POU homeo (helix-turn-helix) domains
  • the C terminal OAR domain found in homeo domain proteins
    • HOMOLOGY
    interspecies homolog to Drosophila bicoid
    homolog to mammalian homeobox backfoot
    Homologene
    FAMILY
  • homeodomain family of DNA binding protein
    • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleolus
    basic FUNCTION
  • a pituitary hormone panactivator also involved in alpha subunit gene expression
  • involved in regulation of transcription, DNA-dependent
  • suppressing tumorigenicity by downregulating the RAS pathway through RASAL1
  • playing an important role in hindlimb development
  • bicoid-related homeodomain factor that exhibits preferential expression in the developing hindlimb, mandible, pituitary gland and teeth (Mitsiadis 2008)
    • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    text
  • development of hind/limb and protein structures, upstream TBX4
  • development of anterior structures, pituitary and craniofacial
  • specification of hind-limb specific morphology, upstream of TBX4
    • PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • targeting the promoter domain of prolactin
  • TRAPPC2 interaction with the transcription factors ENO1, PITX1 and SF1
  • TERT suppressor gene (PITX1 suppresses TERT transcription through direct binding to the TERT promoter, which ultimately regulates telomerase activity)
  • PITX1 protein can further diffuse to additional myonuclei and expand the transcriptional deregulation cascade initiated by DUX4 in FSHMD1A
  • potent BARX1 functions in intestinal rotation and stomach myogenesis occur through ISL1, PITX1, SIX2 and PITX2, intermediary transcription factors
    • cell & other
    REGULATION
    activated by DUX4
    repressed by expressed with POMC in a subset of adult anterior pituitary cells
    Other overexpression of ABL1 induces tyrosine phosphorylation of PITX1, either directly or indirectly
    ASSOCIATED DISORDERS
    corresponding disease(s) THCF , DEL5Q31.1 , LBNBG
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in patients with FSHD
    constitutional   deletion    
    results in micrognathia and abnormal morphology of the mandibular molars (Mitsiadis 2008)
    constitutional   deletion --low  
    Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice, .
    constitutional     --over  
    upon exposure to genotoxic stress, is associated with marked induction of apoptosis that is independent of TP53 status
    Susceptibility
    Variant & Polymorphism
    Candidate gene club feet, skeletal anomalies, cleft/high palate in del5q31 patients
    Marker
    Therapy target
    ANIMAL & CELL MODELS