UniProt ID: Q1LVQ7 |
FUNCTION: Sequence-specific DNA-binding transcription factor that binds palindromic sequences within promoters and may activate or repress the transcription of a subset of genes. Most probably regulates the expression of genes involved in the development of mesenchyme-derived craniofacial structures (By similarity). Required for proper neural crest cell migration into the frontonasal primordia during development (PubMed:23059813). {ECO:0000250|UniProtKB:Q15699, ECO:0000269|PubMed:23059813}. SUBUNIT: Binds DNA as a homodimer; required for transcriptional activation. {ECO:0000250|UniProtKB:Q63087}. SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q15699}. DEVELOPMENTAL STAGE: Expression is initially detected at the tailbud stage, immediately after gastrulation, in the cephalic mesoderm. It is maintained in the mesoderm during early stages of development. Expression is initiated in the neural crest by the 5 somites stage, and is restricted to a rostral domain of cranial neural crest. Later during development it is still expressed in specific regions of the neural crest-derived facial mesenchyme. In 24 hpf stage embryos, expressed strongly in the periocular mesenchyme. By 48 hpf, expression is maintained in the periocular mesenchyme towards the anterior of the head, with weaker expression in the nasal region and the prospective palate. Also expressed in a discrete region at the distal tip of the mandible arch and in the pectoral fin bud primordia. {ECO:0000269|PubMed:23059813}. DOMAIN: The OAR motif may negatively regulate DNA-binding and therefore transcriptional activity. It is found in the C-terminal transactivation domain that stimulates transcription. {ECO:0000250|UniProtKB:Q63087}. DISRUPTION PHENOTYPE: Morpholino-mediated knockdown causes severe craniofacial alterations including small, misshapen head, microphthalmia and loss of the jaw. It is associated with a more or less severe loss of the cartilaginous facial skeleton. Pericardial edema is also detected. {ECO:0000269|PubMed:23059813}. SIMILARITY: Belongs to the paired homeobox family. {ECO:0000305}. |
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