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FLASH GENE
Symbol PRRX1 contributors: mct - updated : 22-03-2012
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
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
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
5 splicing 4071 - 217 - 2000 11063257
  • five exons encoding the longest transcript but shortest isoform
  • pmx-1a
  • 4 splicing 3999 27 245 - 2000 11063257
  • pmx-1b
  • four exons, lacks a segment in the coding region, leading to the frameshift
  • a distinct C-terminus compared to isoform pmx-1b
  • 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
    Muscularsmooth   
    Muscularstriatumcardiac  
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one homeobox domain
  • one 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
  • 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
    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
    Susceptibility
    Variant & Polymorphism
    Candidate gene potential candidate for the non syndromic deafness modifier locus; for brachydactyly type E in del 1q24q25
    Marker
    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