Twist1 - twist basic helix-loop-helix transcription factor 1 Gene

Mus musculus

Also known as Pde; pdt; Ska10; Twist; M-Twist; bHLHa38; Ska

Gene ID: 22160 | Gene type: protein coding

About Twist1

Summary

Basic helix-loop-helix (bHLH) transcription factors have been implicated in cell lineage determination and differentiation. This gene encodes a bHLH transcription factor that is evolutionarily conserved from invertebrates to humans, and was originally identified in Drosophila as an essential gene involved in early mesoderm development and dorsal-ventral patterning in the embryo. This protein plays a role in Cancer by regulating the epithelial-mesenchymal transition (EMT), a process that is critical for metastasis initiation, and promoting tumor progression. Mutations in the human gene are associated with Saethre-Chotzen syndrome (SCS). Mice with heterozygous mutations in this gene exhibit cranofacial and structural defects similar to those seen in human SCS patients. [provided by RefSeq, Sep 2015]

Twist1 Products(1)

mRNA	Protein	Name
NM_011658.2	NP_035788.1	twist-related protein 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	17893140	MGI
enables E-box binding	IDA IDA: Inferred from direct assay	16502419	MGI
enables E-box binding	IMP IMP: Inferred from mutant phenotype	24011070	MGI
enables bHLH transcription factor binding	IPI IPI: Inferred from physical interaction	23395635	MGI
enables histone deacetylase binding	IDA IDA: Inferred from direct assay	19345188	MGI
enables identical protein binding	IPI IPI: Inferred from physical interaction	16502419	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	16502419	MGI
enables protein domain specific binding	IPI IPI: Inferred from physical interaction	15030764	MGI
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	16502419	MGI
enables transcription coregulator binding	IPI IPI: Inferred from physical interaction	19345188	MGI

Biological Process GO Annotation	Evidence	Reference	Source
involved in aortic valve morphogenesis	IMP IMP: Inferred from mutant phenotype	20804746	MGI
acts upstream of or within cardiac neural crest cell development involved in outflow tract morphogenesis	IMP IMP: Inferred from mutant phenotype	18539270	MGI
acts upstream of or within cardiac neural crest cell migration involved in outflow tract morphogenesis	IMP IMP: Inferred from mutant phenotype	18539270	MGI
involved in cell proliferation involved in heart valve development	IMP IMP: Inferred from mutant phenotype	20804746	MGI
involved in cellular response to hypoxia	IMP IMP: Inferred from mutant phenotype	18297062	MGI
acts upstream of or within cranial suture morphogenesis	IMP IMP: Inferred from mutant phenotype	12221714	MGI
involved in cranial suture morphogenesis	IMP IMP: Inferred from mutant phenotype	16502419	MGI
acts upstream of or within embryonic cranial skeleton morphogenesis	IGI IGI: Inferred from genetic interaction	15030764	MGI
involved in embryonic cranial skeleton morphogenesis	IMP IMP: Inferred from mutant phenotype	8988167	MGI
acts upstream of or within embryonic digit morphogenesis	IMP IMP: Inferred from mutant phenotype	15030764	MGI
acts upstream of or within embryonic forelimb morphogenesis	IMP IMP: Inferred from mutant phenotype	12175489	MGI
involved in embryonic hindlimb morphogenesis	IMP IMP: Inferred from mutant phenotype	8988167	MGI
acts upstream of or within embryonic limb morphogenesis	IMP IMP: Inferred from mutant phenotype	11350121	MGI
acts upstream of or within embryonic skeletal system morphogenesis	IMP IMP: Inferred from mutant phenotype	15030764	MGI
acts upstream of or within endocardial cushion morphogenesis	IMP IMP: Inferred from mutant phenotype	18539270	MGI
acts upstream of energy homeostasis	IDA IDA: Inferred from direct assay	19345188	MGI
acts upstream of or within hindlimb morphogenesis	IMP IMP: Inferred from mutant phenotype	10700192	MGI
acts upstream of or within in utero embryonic development	IMP IMP: Inferred from mutant phenotype	15030764	MGI
acts upstream of macrophage cytokine production	IGI IGI: Inferred from genetic interaction	16831897	MGI
involved in mitral valve morphogenesis	IMP IMP: Inferred from mutant phenotype	20804746	MGI
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	14645221	MGI
acts upstream of or within negative regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	12175489	MGI
involved in negative regulation of cell differentiation	IDA IDA: Inferred from direct assay	9520323	MGI
acts upstream of or within negative regulation of macrophage cytokine production	IGI IGI: Inferred from genetic interaction	16831897	MGI
acts upstream of or within negative regulation of molecular function	IDA IDA: Inferred from direct assay	15030764	MGI
acts upstream of or within negative regulation of osteoblast differentiation	IDA IDA: Inferred from direct assay	15030764	MGI
involved in negative regulation of peroxisome proliferator activated receptor signaling pathway	IDA IDA: Inferred from direct assay	19345188	MGI
acts upstream of or within negative regulation of skeletal muscle tissue development	IDA IDA: Inferred from direct assay	7664846	MGI
involved in negative regulation of striated muscle tissue development	IDA IDA: Inferred from direct assay	9520323	MGI
acts upstream of or within negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	7664846	MGI
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	16502419	MGI
acts upstream of or within negative regulation of tumor necrosis factor production	IGI IGI: Inferred from genetic interaction	16831897	MGI
acts upstream of or within neural tube closure	IMP IMP: Inferred from mutant phenotype	7729687	MGI
acts upstream of or within neuron migration	IMP IMP: Inferred from mutant phenotype	15162501	MGI
acts upstream of or within ossification	IMP IMP: Inferred from mutant phenotype	15030764	MGI
acts upstream of or within osteoblast differentiation	IMP IMP: Inferred from mutant phenotype	15030764	MGI
involved in positive regulation of cell motility	IMP IMP: Inferred from mutant phenotype	17332324	MGI
involved in positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation	IDA IDA: Inferred from direct assay	20804746	MGI
involved in positive regulation of epithelial to mesenchymal transition	IMP IMP: Inferred from mutant phenotype	17332324	MGI
acts upstream of or within positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	24011070	MGI
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	17893140	MGI
acts upstream of or within stem cell differentiation	IMP IMP: Inferred from mutant phenotype	12142027	MGI
acts upstream of tumor necrosis factor production	IGI IGI: Inferred from genetic interaction	16831897	MGI

Cellular Component GO Annotation	Evidence	Reference	Source
located in nucleus	IDA IDA: Inferred from direct assay	16100003	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

twist-related protein 1

Pluridigite	charlie chaplin
polydactyly EMS	twist gene homolog 1
twist homolog 1

Related Agents

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-N2013	Aristolactam I		99.31%	Unkown
HY-RS15281	TWIST1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20201	Twist1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26705	Twist1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Twist1	NCBI	NCBI:7291

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