TWIST1

Basic helix-loop-helix (bHLH) transcription factors have been implicated in cell lineage determination and differentiation. The protein encoded by this gene is a bHLH transcription factor and shares similarity with another bHLH transcription factor, Dermo1. The strongest expression of this mRNA is in placental tissue; in adults, mesodermally derived tissues express this mRNA preferentially. Mutations in this gene have been found in patients with Saethre-Chotzen syndrome. [provided by RefSeq]

twist homolog 1 (Drosophila)

Acts as a transcriptional regulator. Inhibits myogenesis by sequestrating E proteins, inhibiting trans-activation by MEF2, and inhibiting DNA-binding by MYOD1 through physical interaction. This interaction probably involves the basic domains of both proteins. Also represses expression of pro-inflammatory cytokines such as TNFA and IL1B. Regulates cranial suture patterning and fusion. Activates transcription as a heterodimer with E proteins. Regulates gene expression differentially, depending on dimer composition. Homodimers induce expression of FGFR2 and POSTN while heterodimers repress FGFR2 and POSTN expression and induce THBS1 expression. Heterodimerization is also required for osteoblast differentiation. Represses the activity of the circadian transcriptional activator: NPAS2-BMAL1 heterodimer (By similarity).

Biological Process aortic valve morphogenesis Source:BHF-UCL1 Publication
Biological Process cardiac neural crest cell migration involved in outflow tract morphogenesis Source:Ensembl
Biological Process cell proliferation involved in heart valve development Source:BHF-UCL1 Publication
Biological Process cellular response to growth factor stimulus Source:Ensembl
Biological Process cellular response to hypoxia Source:BHF-UCL1 Publication
Biological Process cranial suture morphogenesis Source:BHF-UCL1 Publication
Biological Process developmental process Source:GO_Central1 Publication
Biological Process embryonic camera-type eye formation Source:BHF-UCL1 Publication
Biological Process embryonic cranial skeleton morphogenesis Source:BHF-UCL2 Publications
Biological Process embryonic digit morphogenesis Source:BHF-UCL1 Publication
Biological Process embryonic forelimb morphogenesis Source:Ensembl
Biological Process embryonic hindlimb morphogenesis Source:Ensembl
Biological Process endocardial cushion morphogenesis Source:Ensembl
Biological Process eyelid development in camera-type eye Source:BHF-UCL1 Publication
Biological Process in utero embryonic development Source:Ensembl
Biological Process mitral valve morphogenesis Source:Ensembl
Biological Process muscle organ development Source:UniProtKB-KW
Biological Process negative regulation of apoptotic process Source:Ensembl
Biological Process negative regulation of cellular senescence Source:BHF-UCL1 Publication
Biological Process negative regulation of DNA damage response, signal transduction by p53 class mediator Source:BHF-UCL1 Publication
Biological Process negative regulation of DNA-binding transcription factor activity Source:Ensembl
Biological Process negative regulation of DNA-templated transcription Source:UniProtKB1 Publication
Biological Process negative regulation of double-strand break repair Source:BHF-UCL1 Publication
Biological Process negative regulation of histone acetylation Source:Ensembl
Biological Process negative regulation of macrophage cytokine production Source:Ensembl
Biological Process negative regulation of osteoblast differentiation Source:BHF-UCL1 Publication
Biological Process negative regulation of oxidative phosphorylation uncoupler activity Source:Ensembl
Biological Process negative regulation of peroxisome proliferator activated receptor signaling pathway Source:Ensembl
Biological Process negative regulation of phosphatidylinositol 3-kinase signaling Source:BHF-UCL1 Publication
Biological Process negative regulation of skeletal muscle tissue development Source:Ensembl
Biological Process negative regulation of striated muscle tissue development Source:Ensembl
Biological Process negative regulation of transcription by RNA polymerase II Source:BHF-UCL1 Publication
Biological Process negative regulation of tumor necrosis factor production Source:Ensembl
Biological Process neural tube closure Source:Ensembl
Biological Process neuron migration Source:Ensembl
Biological Process odontogenesis Source:Ensembl
Biological Process ossification Source:BHF-UCL1 Publication
Biological Process osteoblast differentiation Source:Ensembl
Biological Process outer ear morphogenesis Source:BHF-UCL1 Publication
Biological Process positive regulation of angiogenesis Source:BHF-UCL1 Publication
Biological Process positive regulation of cell migration Source:BHF-UCL1 Publication
Biological Process positive regulation of cell motility Source:BHF-UCL1 Publication
Biological Process positive regulation of DNA-templated transcription initiation Source:CACAO1 Publication
Biological Process positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation Source:Ensembl
Biological Process positive regulation of epithelial cell proliferation Source:Ensembl
Biological Process positive regulation of epithelial to mesenchymal transition Source:BHF-UCL1 Publication
Biological Process positive regulation of fatty acid beta-oxidation Source:BHF-UCL1 Publication
Biological Process positive regulation of gene expression Source:BHF-UCL1 Publication
Biological Process positive regulation of interleukin-6 production Source:BHF-UCL1 Publication
Biological Process positive regulation of monocyte chemotactic protein-1 production Source:BHF-UCL1 Publication
Biological Process positive regulation of transcription by RNA polymerase II Source:BHF-UCL1 Publication
Biological Process positive regulation of transcription regulatory region DNA binding Source:BHF-UCL1 Publication
Biological Process positive regulation of tumor necrosis factor production Source:BHF-UCL1 Publication
Biological Process regulation of bone mineralization Source:BHF-UCL1 Publication
Biological Process regulation of transcription by RNA polymerase II Source:GO_Central1 Publication
Biological Process rhythmic process Source:UniProtKB-KW
Biological Process roof of mouth development Source:Ensembl

Nucleus

Saethre-Chotzen syndrome (SCS):
A craniosynostosis syndrome characterized by coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces, and clinodactyly.
Robinow-Sorauf syndrome (RSS):
An autosomal dominant syndrome characterized by craniosynostosis, asymmetry of orbits, flat face, hypertelorism, a thin, long, and pointed nose, shallow orbits, strabismus, and broad great toes with a duplication of the distal phalanx. RSS is clinically similar to Saethre-Chotzen syndrome, with the most characteristic additional feature in Robinow-Sorauf syndrome being a bifid or partially duplicated hallux.
Craniosynostosis 1 (CRS1):
A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability.
Sweeney-Cox syndrome (SWCOS):
An autosomal dominant syndrome characterized by facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears.