ALX1
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.
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 (PubMed:8756334, PubMed:9753625). Most probably regulates the expression of genes involved in the development of mesenchyme-derived craniofacial structures. Early on in development, it plays a role in forebrain mesenchyme survival (PubMed:20451171). May also induce epithelial to mesenchymal transition (EMT) through the expression of SNAI1 (PubMed:23288509).
Involvement in disease
Frontonasal dysplasia 3
FND3
The term frontonasal dysplasia describes an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism; broadening of the nasal root; median facial cleft affecting the nose and/or upper lip and palate; unilateral or bilateral clefting of the alae nasi; lack of formation of the nasal tip; anterior cranium bifidum occultum; a V-shaped or widow's peak frontal hairline.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Acetylated at Lys-131 by EP300; increases interaction with EP300 and stimulates ALX1 transcriptional activity.
Sequence Similarities
Belongs to the paired homeobox family.
Tissue Specificity
Cartilage and cervix tissue.
Cellular localization
- Nucleus
Alternative names
CART1, ALX1, ALX homeobox protein 1, Cartilage homeoprotein 1, CART-1