Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
Symbol PITX1 contributors: mct/npt - updated : 06-11-2011
HGNC name paired-like homeodomain 1
HGNC id 9004
Corresponding disease
DEL5Q31.1 chromosome 5q31 deletions
LBNBG Liebenberg syndrome or carpal synostosis with dysplastic elbow joints and brachydactyly
THCF tibial hemimelia and clubfoot
Location 5q31.1      Physical location : 134.363.424 - 134.369.964
Synonym name
  • pituitary hormone panactivator
  • hindlimb expressed homeobox protein backfoot
  • paired-like homeodomain transcription factor 1
  • pituitary homeo box 1
  • pituitary otx-related factor
  • Synonym symbol(s) BFT, POTX, POU1F3, PTX1
    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 ]
    Physical map
    TCF7 5q31.1 transcription factor 7 (T-cell specific, HMG-box) SKP1A 7q11.2 S-phase kinase-associated protein 1A (p19A) PPP2CA 5q23-q31 protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform CDKL3 5q31 cyclin-dependent kinase-like 3 UBE2B 5q31 ubiquitin-conjugating enzyme E2B (RAD6 homolog) MGC13017 5q31.2 similar to RIKEN cDNA A430101B06 gene LOC391833 5 similar to 40S ribosomal protein S10 PHF15 5q31.2 PHD finger protein 15 SARA2 5q31.1 SAR1a gene homolog 2 (S. cerevisiae) SEC24A 5 SEC24 related gene family, member A (S. cerevisiae) CAMLG 5q23 calcium modulating ligand DDX46 5q31.2 DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 FLJ37562 5q31.2 hypothetical protein FLJ37562 FLJ22625 5q31.2 hypothetical protein FLJ22625 DCOHM 5q31.2 hypothetical protein FLJ22625 CATSPER3 5q31.2 cation channel, sperm associated 3 PITX1 5q31 paired-like homeodomain transcription factor 1 LOC389328 5 LOC389328 LOC389329 5 LOC389329 H2AFY 5q31.3-q32 H2A histone family, member Y DCNP1 5q31.2 dendritic cell nuclear protein 1 LOC345607 5q31.2 similar to FLJ00292 protein NEUROG1 5q23-q31 neurogenin 1 CXCL14 5q31 chemokine (C-X-C motif) ligand 14 LOC389330 5 LOC389330 LOC389331 5 LOC389331 LOC153328 5q31.2 similar to CG4995 gene product IL9 5q31.1 interleukin 9 FBXL3B 5q31 F-box and leucine-rich repeat protein 3B LECT2 5q31.1-q32 leukocyte cell-derived chemotaxin 2
    regionally located mapping in TCOF1 region
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 2383 34 314 - 2005 15960973
    Type widely
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon moderately
     mouthtooth  highly
    Reproductivefemale systemuteruscervix predominantly
    Respiratorylung   highly
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    SystemCellPubmedSpeciesStageRna symbol
    Digestiveepithelial cell
    Nervousoptic nerve
    cell lineage
    cell lines
    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)
  • POU specific and POU homeo (helix-turn-helix) domains
  • the C terminal OAR domain found in homeo domain proteins
    interspecies homolog to Drosophila bicoid
    homolog to mammalian homeobox backfoot
  • homeodomain family of DNA binding protein
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    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
  • 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
    signaling signal transduction
    a component
    DNA binding
    small molecule
  • 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
    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
    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
    Variant & Polymorphism
    Candidate gene club feet, skeletal anomalies, cleft/high palate in del5q31 patients
    Therapy target