TWIST1 Gene Summary [Human]
This gene encodes a basic helix-loop-helix (bHLH) transcription factor that plays an important role in embryonic development. The encoded protein forms both homodimers and heterodimers that bind to DNA E box sequences and regulate the transcription of genes involved in cranial suture closure during skull development. This protein may also regulate neural tube closure, limb development and brown fat metabolism. This gene is hypermethylated and overexpressed in multiple human cancers, and the encoded protein promotes tumor cell invasion and metastasis, as well as metastatic recurrence. Mutations in this gene cause Saethre-Chotzen syndrome in human patients, which is characterized by craniosynostosis, ptosis and hypertelorism. [provided by RefSeq, Jul 2020]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | TWIST1 |
| Official Name | twist family bHLH transcription factor 1 [Source:HGNC Symbol;Acc:HGNC:12428] |
| Ensembl ID | ENSG00000122691 |
| Bio databases IDs | |
| Aliases | twist family bHLH transcription factor 1, Saethre-Chotzen syndrome |
| Synonyms | ACS3, bHLHa38, BPES2, BPES3, CRS, CRS1, CSO, M-Twist, Pde, pdt, SCS, Ska10, SWCOS, TWIST, twist basic helix-loop-helix transcription factor 1, twist family bHLH transcription factor 1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TWIST1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- transcription regulator
- DNA binding domain
- nucleic acid binding
- basic Helix Loop Helix (bHLH) domain superfamily
- alpha helix
- transcription factor binding
- histone deacetylase binding
- protein domain specific binding
- protein binding
- sequence-specific DNA binding
- identical protein binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- double-stranded DNA binding
- helix loop helix domain
- protein homodimerization
- helix-loop-helix domain
- Helix-loop-helix DNA-binding domain
- loop domain
- basic domain
- transcription factor activity
Pathways
Biological processes and signaling networks where the TWIST1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- major depression
- cancer
- non-small cell lung carcinoma
- breast cancer
- prostate cancer
- abdominal cancer
- epithelial neoplasia
- metastasis
- Robinow-Sorauf syndrome
role in cell
- expression in
- number
- survival
- production in
- migration
- cellular infiltration by
- differentiation
- binding in
- apoptosis
- accumulation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- cytosol
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TWIST1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cranial suture morphogenesis
- cardiac neural crest cell migration involved in outflow tract morphogenesis
- negative regulation of striated muscle tissue development
- positive regulation of angiogenesis
- embryonic digit morphogenesis
- endocardial cushion morphogenesis
- positive regulation of transcription regulatory region DNA binding
- negative regulation of transcription, DNA-dependent
- in utero embryonic development
- ossification
- negative regulation of skeletal muscle tissue development
- negative regulation of macrophage cytokine production
- energy homeostasis
- positive regulation of tumor necrosis factor production
- cellular response to hypoxia
- embryonic forelimb morphogenesis
- positive regulation of epithelial cell proliferation
- cell proliferation involved in heart valve development
- embryonic hindlimb morphogenesis
- negative regulation of tumor necrosis factor production
- negative regulation of peroxisome proliferator activated receptor signaling pathway
- regulation of bone mineralization
- negative regulation of DNA damage response, signal transduction by p53 class mediator
- aortic valve morphogenesis
- positive regulation of fatty acid beta-oxidation
- mitral valve morphogenesis
- positive regulation of gene expression
- cellular response to growth factor stimulus
- positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation
- positive regulation of interleukin-6 production
- negative regulation of protein kinase B signaling cascade
- positive regulation of cell migration
- positive regulation of monocyte chemotactic protein-1 production
- negative regulation of double-strand break repair
- palate development
- outer ear morphogenesis
- embryonic camera-type eye formation
- positive regulation of transcription from RNA polymerase II promoter
- negative regulation of osteoblast differentiation
- negative regulation of transcription from RNA polymerase II promoter
- positive regulation of epithelial to mesenchymal transition
- neuron migration
- neural tube closure
- osteoblast differentiation
- developmental process
- negative regulation of cellular senescence
- embryonic cranial skeleton morphogenesis
- eyelid development in camera-type eye
- regulation of transcription from RNA polymerase II promoter
- muscle organ development
- rhythmic process
- negative regulation of apoptotic process
- positive regulation of transcription initiation, DNA-dependent
- positive regulation of cell motility
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- transcription cofactor binding
- protein domain specific binding
- protein homodimerization activity
- protein binding
- histone deacetylase binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- core promoter proximal region sequence-specific DNA binding
- sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity involved in negative regulation of transcription
- bHLH transcription factor binding
- E-box binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity