Twist1 twist basic helix-loop-helix transcription factor 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Twist1provided by MGI
Official Full Name: twist basic helix-loop-helix transcription factor 1provided by MGI
Primary source: MGI:MGI:98872
See related: Ensembl:ENSMUSG00000035799 AllianceGenome:MGI:98872
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Pde; pdt; Ska10; Twist; M-Twist; bHLHa38; Ska<m10Jus>
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]
Expression: Biased expression in limb E14.5 (RPKM 91.2), CNS E11.5 (RPKM 22.7) and 6 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 A3; 12 14.81 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (34007670..34009830)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (33957671..33959831)

Chromosome 12 - NC_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TWIST1+FAP+ fibroblasts in the pathogenesis of intestinal fibrosis in Crohn's disease.
Title: TWIST1+FAP+ fibroblasts in the pathogenesis of intestinal fibrosis in Crohn's disease.
The Role of Twist1 in Chronic Pancreatitis-Associated Pancreatic Stellate Cells.
Title: The Role of Twist1 in Chronic Pancreatitis-Associated Pancreatic Stellate Cells.
Twist family BHLH transcription factor 1 is required for the maintenance of leukemia stem cell in MLL-AF9[+] acute myeloid leukemia.
Title: Twist family BHLH transcription factor 1 is required for the maintenance of leukemia stem cell in MLL-AF9(+) acute myeloid leukemia.
DNA-PKcs/AKT1 inhibits epithelial-mesenchymal transition during radiation-induced pulmonary fibrosis by inducing ubiquitination and degradation of Twist1.
Title: DNA-PKcs/AKT1 inhibits epithelial-mesenchymal transition during radiation-induced pulmonary fibrosis by inducing ubiquitination and degradation of Twist1.
Epigenetic modification of TWIST1 in macrophages promotes hypertension-induced atherosclerotic plaque instability.
Title: Epigenetic modification of TWIST1 in macrophages promotes hypertension-induced atherosclerotic plaque instability.
FBXO3 stabilizes USP4 and Twist1 to promote PI3K-mediated breast cancer metastasis.
Title: FBXO3 stabilizes USP4 and Twist1 to promote PI3K-mediated breast cancer metastasis.
Clonal MDS/AML cells with enhanced TWIST1 expression reprogram the differentiation of bone marrow MSCs.
Title: Clonal MDS/AML cells with enhanced TWIST1 expression reprogram the differentiation of bone marrow MSCs.
Loss of Twist1 and balanced retinoic acid signaling from the meninges causes cortical folding in mice.
Title: Loss of Twist1 and balanced retinoic acid signaling from the meninges causes cortical folding in mice.
TWIST1 rescue calcium overload and apoptosis induced by inflammatory microenvironment in S. aureus-induced osteomyelitis.
Title: TWIST1 rescue calcium overload and apoptosis induced by inflammatory microenvironment in S. aureus-induced osteomyelitis.
USP13 promotes breast cancer metastasis through FBXL14-induced Twist1 ubiquitination.
Title: USP13 promotes breast cancer metastasis through FBXL14-induced Twist1 ubiquitination.

Submit: New GeneRIF Correction See all GeneRIFs (140)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (2) 1 citation
Chemically induced (other) (1) 1 citation
Endonuclease-mediated (9) 1 citation
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

M63649 (e-PCR)
- UniSTS:124970

Twist (e-PCR), detects polymorphism
- UniSTS:238148

Twist1 (e-PCR), detects polymorphism
- UniSTS:547732

MARC_39127-39128:1075469460:1 (e-PCR)
- UniSTS:467355

AA960487 (e-PCR)
- UniSTS:160200

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	TAS Traceable Author Statement more info	PubMed
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor binding	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription repressor activity	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription repressor activity	ISO Inferred from Sequence Orthology more info
enables E-box binding	IDA Inferred from Direct Assay more info	PubMed
enables E-box binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables E-box binding	ISO Inferred from Sequence Orthology more info
enables E-box binding	TAS Traceable Author Statement more info	PubMed
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables bHLH transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables bHLH transcription factor binding	ISO Inferred from Sequence Orthology more info
enables cis-regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables histone deacetylase binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables transcription coregulator binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in aortic valve morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in aortic valve morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cardiac neural crest cell development involved in outflow tract morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cardiac neural crest cell migration involved in outflow tract morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell proliferation involved in heart valve development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell proliferation involved in heart valve development	ISO Inferred from Sequence Orthology more info
involved_in cellular response to growth factor stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to hypoxia	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to hypoxia	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cranial suture morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cranial suture morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in developmental process	IBA Inferred from Biological aspect of Ancestor more info
involved_in embryonic camera-type eye formation	IEA Inferred from Electronic Annotation more info
involved_in embryonic camera-type eye formation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within embryonic cranial skeleton morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in embryonic cranial skeleton morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic cranial skeleton morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within embryonic digit morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic forelimb morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic hindlimb morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic limb morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic skeletal system morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endocardial cushion morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of energy homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in eyelid development in camera-type eye	IEA Inferred from Electronic Annotation more info
involved_in eyelid development in camera-type eye	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within hindlimb morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of macrophage cytokine production	IGI Inferred from Genetic Interaction more info	PubMed
involved_in mitral valve morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in muscle organ development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA damage response, signal transduction by p53 class mediator	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA damage response, signal transduction by p53 class mediator	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cellular senescence	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cellular senescence	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of double-strand break repair	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of double-strand break repair	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of macrophage cytokine production	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of miRNA transcription	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of miRNA transcription	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of molecular function	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of osteoblast differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of osteoblast differentiation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of peroxisome proliferator activated receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of skeletal muscle tissue development	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of striated muscle tissue development	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of tumor necrosis factor production	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within neural tube closure	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ossification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within osteoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription initiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription initiation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell migration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell migration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell motility	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of epithelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of epithelial cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of epithelial to mesenchymal transition	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of epithelial to mesenchymal transition	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of fatty acid beta-oxidation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of fatty acid beta-oxidation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of interleukin-6 production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of interleukin-6 production	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of monocyte chemotactic protein-1 production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of monocyte chemotactic protein-1 production	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase II	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of transcription regulatory region DNA binding	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of tumor necrosis factor production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of tumor necrosis factor production	ISO Inferred from Sequence Orthology more info
involved_in regulation of bone mineralization	IEA Inferred from Electronic Annotation more info
involved_in regulation of bone mineralization	ISO Inferred from Sequence Orthology more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in rhythmic process	IEA Inferred from Electronic Annotation more info
involved_in roof of mouth development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within stem cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of tumor necrosis factor production	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: twist-related protein 1

Names: Pluridigite; charlie chaplin; polydactyly EMS; twist gene homolog 1; twist homolog 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.