Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
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
TYPE functioning gene
STRUCTURE 75.23 kb     5 Exon(s)
MAPPING cloned Y linked N status provisional
Physical map
BLZF1 1q24-q25 basic leucine zipper nuclear factor 1 (JEM-1) LOC57821 1q24 hypothetical protein LOC57821 SLC19A2 1q23.2-q23.3 solute carrier family 19 (thiamine transporter), member 2 F5 1q23.2-q23.3 coagulation factor V (proaccelerin, labile factor) SELP 1q23.2-q41.2 selectin P (granule membrane protein 140kDa, antigen CD62) SELL 1q23.2-q23.3 selectin L (lymphocyte adhesion molecule 1) SELE 1q23.2-q23.1 selectin E (endothelial adhesion molecule 1) MGC9084 1q23.3 hypothetical protein MGC9084 FLJ10706 1q23.3 hypothetical protein FLJ10706 PACE-1 1q23.3 ezrin-binding partner PACE-1 KIFAP3 1q23.2 kinesin-associated protein 3 MRPS10P1 1q23.2 mitochondrial ribosomal protein S10 pseudogene 1 LOC149281 1q23.3 similar to AD-003 protein LOC388713 1 LOC388713 FLJ11752 1q23.3 NTKL-binding protein 1 PRRX1 1q23-1q25 paired related homeobox 1 LOC391133 1 similar to hypothetical protein BC015183 FMO3 1q23-q24 flavin containing monooxygenase 3 LOC388714 1 similar to Putative dimethylaniline monooxygenase [N-oxide forming] 6 (Flavin-containing monooxygenase 6) (FMO 6) (Dimethylaniline oxidase 6) FMO2 1q23-q25 flavin containing monooxygenase 2 FMO1 1q23-q25 flavin containing monooxygenase 1 PRO1257 1q24.1 hypothetical protein PRO1257 FMO4 1q23-q25 flavin containing monooxygenase 4 HCP3 1q23.3 cytochrome c, somatic pseudogene XTP2 1q23.3 HBxAg transactivated protein 2 MYOC 1q24.3-q25.2 myocilin, trabecular meshwork inducible glucocorticoid response LOC391134 1 similar to Chain  , Profilin LOC391135 1 similar to ribosomal protein L4; 60S ribosomal protein L4; homologue of Xenopus ribosomal protein L1 VAMP4 1q24-q25 vesicle-associated membrane protein 4 LOC391136 1 similar to RNA binding motif protein 3 CGI-01 1q24-q25.3 CGI-01 protein LOC391137 1 similar to dJ612B18.1 (similar to 40S ribosomal protein) LOC127099 1q24.1 similar to 60S ACIDIC RIBOSOMAL PROTEIN P1 KIAA0820 1q24 similar to 60S ACIDIC RIBOSOMAL PROTEIN P1
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
    Rna function mRNA is expressed in activated hepatic stellate cells, but not in quiescent hepatic stellate cells
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadiposewhite highly Mus musculus
    SystemCellPubmedSpeciesStageRna symbol
    Skeletonosteoblast Mus musculus
    cell lineage
    cell lines
    at STAGE
  • one homeobox domain
  • a regulatory otp, aristaless and rax (OAR) domain
    interspecies homolog to murine Prrx1
    homolog to rattus Pmx1
  • paired homeobox family
  • aristaless-related homeobox genes family
  • CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    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
    a component
    DNA binding to an A/T-rich element in the muscle creatine enhancer
    small molecule
  • regulates TGFB1 ligand expression in preadipocytes and thereby modulates adipogenesis
  • cell & other
    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
    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
    Variant & Polymorphism
    Candidate gene potential candidate for the non syndromic deafness modifier locus; for brachydactyly type E in del 1q24q25
  • uncouples EMT and stemness, and is a biomarker associated with patient survival and lack of metastasis in cancer
  • Therapy target
  • 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