PRRX1

Paired related homeobox 1 is a protein that in humans is encoded by the PRRX1 gene.^[5][6]

PRRX1
Identifiers
Aliases	PRRX1, AGOTC, PHOX1, PMX1, PRX-1, PRX1, paired related homeobox 1
External IDs	OMIM: 167420; MGI: 97712; HomoloGene: 7896; GeneCards: PRRX1; OMA:PRRX1 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q24.2 Start 170,662,728 bp[1] End 170,739,421 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1 H2.1|1 70.53 cM Start 163,072,688 bp[2] End 163,141,279 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon urethra tendon of biceps brachii saphenous vein parietal pleura synovial joint vena cava pericardium skin of hip seminal vesicula Top expressed in calvaria maxillary prominence dermis genital tubercle foot ankle mandibular prominence stroma of bone marrow body of femur skin of external ear More reference expression data BioGPS More reference expression data
Gene ontology Molecular function sequence-specific DNA binding transcription coactivator activity DNA binding HMG box domain binding RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription repressor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus nucleoplasm cytosol Biological process embryonic skeletal system morphogenesis roof of mouth development regulation of transcription, DNA-templated neuron fate determination positive regulation of smoothened signaling pathway regulation of neuron projection regeneration negative regulation of transcription by RNA polymerase II neuronal stem cell population maintenance multicellular organism development cartilage development positive regulation of mesenchymal cell proliferation embryonic limb morphogenesis inner ear morphogenesis artery morphogenesis middle ear morphogenesis embryonic cranial skeleton morphogenesis positive regulation of transcription by RNA polymerase II transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5396 18933 Ensembl ENSG00000116132 ENSMUSG00000026586 UniProt P54821 P63013 RefSeq (mRNA) NM_006902 NM_022716 NM_001025570 NM_011127 NM_175686 RefSeq (protein) NP_008833 NP_073207 NP_001020741 NP_035257 NP_783617 Location (UCSC) Chr 1: 170.66 – 170.74 Mb Chr 1: 163.07 – 163.14 Mb PubMed search [3] [4]
Wikidata
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Function

The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription coactivator, enhancing the DNA-binding activity of serum response factor, a protein required for the induction of genes by growth and differentiation factors. The protein regulates muscle creatine kinase, indicating a role in the establishment of diverse mesodermal muscle types. Alternative splicing yields two isoforms that differ in abundance and expression patterns.^[6]

Role in mesenchymal stem cell differentiation

Prrx1 expression is restricted to the mesoderm during embryonic development, and both Prrx1 and Prrx2 are expressed in mesenchymal tissues in adult mice.^{[7][8][9][10][11]} Mice that lack both Prrx1 and Prrx2 have profound defects in mesenchymal cell differentiation in the craniofacial region.^[9][12] Several recent studies demonstrate that PRRX1 can regulate differentiation of mesenchymal precursors. For example, PRRX1 inhibits adipogenesis by activating transforming growth factor-beta (TGF-beta) signaling,^[13] and also acts downstream of tumor necrosis factor-alpha to inhibit osteoblast differentiation.^[14]