Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol PRRX1 contributors: mct - updated : 22-08-2012
HGNC name paired related homeobox 1
HGNC id 9142
Corresponding disease
AGOTC agnathia-otocephaly
Location 1q24.2      Physical location : 170.633.312 - 170.708.540
Synonym name paired mesoderm homeo box 1
Synonym symbol(s) HGNC9142, PHOX1, PMX1, PRX1, AGOTC
DNA
TYPE functioning gene
STRUCTURE 75.23 kb     5 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
5 splicing 4071 - 217 - 2003 23355395
  • five exons encoding the longest transcript but shortest isoform
  • pmx-1a
  • regulate migration, in pancreatic cancer cells
  • 4 splicing 3999 27 245 enriched in circulating pancreatic cells 2003 23355395
  • pmx-1b
  • four exons, lacks a segment in the coding region, leading to the frameshift
  • a distinct C-terminus compared to isoform pmx-1b
  • having a repressor domain
  • regulate invasion, in pancreatic cancer cells
  • EXPRESSION
    Rna function mRNA is expressed in activated hepatic stellate cells, but not in quiescent hepatic stellate cells
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumearinnercochlea  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadiposewhite highly Mus musculus
    Muscularsmooth   
    Muscularstriatumcardiac  
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skeletonosteoblast Mus musculus
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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