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FLASH GENE
Symbol PITX1 contributors: mct/npt - updated : 06-11-2011
HGNC name paired-like homeodomain 1
HGNC id 9004
DNA
TYPE functioning gene
SPECIAL FEATURE arranged in tandem
STRUCTURE 6.54 kb     3 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
text structure TAAT core motif, and an adjacent 2 bp of exact match with the DUX1-binding sequence
MAPPING cloned Y linked N status confirmed
Map cen - D5S495 - [D5S492 - D5S2543 - D5S458 - D5S1947 - D5S1995 - D5S434 ] - D5S412 - qter
Authors Shang (97)
Text [PITX1 ]
regionally located mapping in TCOF1 region
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 - 2383 34 314 - 2005 15960973
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinelarge intestinecolon moderately
 mouthtooth  highly
Reproductivefemale systemuteruscervix predominantly
Respiratorylung   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone   
cells
SystemCellPubmedSpeciesStageRna symbol
Digestiveepithelial cell
Nervousoptic nerve
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo, fetal, pregnancy
Text Rathke pouch at an early stage of pituitary development, posterior (hind)limb, craniofacial tissues
  • in both mandible and developing teeth (Mitsiadis 2008)
  • 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