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FLASH GENE
Symbol PRRX1 contributors: mct - updated : 22-08-2012
HGNC name paired related homeobox 1
HGNC id 9142
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • one homeobox domain
  • a regulatory otp, aristaless and rax (OAR) domain
    • HOMOLOGY
    interspecies homolog to murine Prrx1
    homolog to rattus Pmx1
    Homologene
    FAMILY
  • paired homeobox family
  • aristaless-related homeobox genes family
    • CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • transcription coactivator, enhancing the DNA-binding activity of serum response factor
  • regulates muscle creatine kinase, indicating a role in the establishment of diverse mesodermal muscle types
  • required for pulmonary vascular development
  • PRRX1, and PRRX2, encode transcription factors critical for orofacial development and are critical for mesenchymal-epithelial signaling during tooth morphogenesis
  • PRRX1 and PRRX2 cooperatively regulate the morphogenesis of the medial region of the mandibular process
  • have a critical role in limb bud formation and skeletal patterning
  • obligate mediator of TNF inhibition of SP7 and differentiation of osteoblasts progenitors
  • involvement of PRRX1 and PRRX2 in organogenesis of tissue originating from the ectoderm other than the mesoderm
  • is an inhibitor of adipogenesis that may impact adipose tissue function in obesity
  • restrains adipogenesis by regulating expression of TGFB1 ligands and thereby activating TGFB1 signaling
  • impacts adipose tissue formation and function in the context of obesity and other metabolic diseases
  • plays an important role as a key switch for neural cell lineage determination and the maintenance of the self-renewal of adult neural stem cells (NSCs) at several stages in the adult brain
    • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding to an A/T-rich element in the muscle creatine enhancer
    RNA
    small molecule
    protein
  • regulates TGFB1 ligand expression in preadipocytes and thereby modulates adipogenesis
    • cell & other
    REGULATION
    activated by TNF (TNF may contribute to reduced bone formation in inflammatory arthritis, menopause, and aging)
    inhibited by HIV-1 Tat in immature dendritic cells
    ASSOCIATED DISORDERS
    corresponding disease(s) AGOTC
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    NUP98-PRRX1, had potent ability to impair differentiation, promote proliferation of myeloid progenitors, induce lethal myeloproliferative disease and to activate a number of genes previously linked to leukemic stem cells
    constitutional     --over  
    may promote TGF&946; activity in adipose tissue and thereby contribute to aberrant adipocyte function during obesity
    Susceptibility
    Variant & Polymorphism
    Candidate gene potential candidate for the non syndromic deafness modifier locus; for brachydactyly type E in del 1q24q25
    Marker
  • uncouples EMT and stemness, and is a biomarker associated with patient survival and lack of metastasis in cancer
    • Therapy target
    ANIMAL & CELL MODELS
  • loss of function mutation in the mouse Pmx1 gene
  • Homozygous for the mutant allele died soon after birth and exhibited defects of skeletogenesis
  • mice lacking Prrx1 die postnatally and have impaired formation of osteogenic and chondrogenic progenitors, resulting in defective skeletogenesis