Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Twist1. (This text reflects annotations as of Wednesday, January 23, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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, Jul 2008]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Twist1
  • participates in the following biological processes:
    • negative regulation of cell differentiation ^[21]
    • negative regulation of histone acetylation ^[14]
    • negative regulation of molecular function ^[1]
    • negative regulation of osteoblast differentiation ^[1]
    • negative regulation of oxidative phosphorylation uncoupler activity ^[14]
    • negative regulation of peroxisome proliferator activated receptor signaling pathway ^[14]
    • negative regulation of sequence-specific DNA binding transcription factor activity ^[14]
    • negative regulation of skeletal muscle tissue development ^{[8, 17]}
    • negative regulation of striated muscle tissue development ^[21]
    • negative regulation of transcription from RNA polymerase II promoter ^{[6, 17]}
    • positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation ^[4]
    • positive regulation of transcription from RNA polymerase II promoter ^{[4, 10]}
  • performs the following molecular functions:
    • E-box binding ^{[4, 6]}
    • protein heterodimerization activity ^[6]
    • protein homodimerization activity ^[6]
    • sequence-specific DNA binding transcription factor activity ^[10]
  • is located in the following cellular components:
    • nucleus ^[15]
• Researchers have inferred, based on physical interactions, that the gene product of Twist1
  • performs the following molecular functions:
    • protein domain specific binding ^[1]
    • transcription factor binding ^[14]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Twist1
  • participates in the following biological processes:
    • aortic valve morphogenesis ^[4]
    • apoptotic process ^[22]
    • cardiac neural crest cell development involved in outflow tract morphogenesis ^[19]
    • cardiac neural crest cell migration involved in outflow tract morphogenesis ^[19]
    • cell differentiation ^[12]
    • cell proliferation involved in heart valve development ^[4]
    • cellular response to hypoxia ^[20]
    • cranial suture morphogenesis ^{[1, 3, 6]}
    • embryonic cranial skeleton morphogenesis ^[7]
    • embryonic digit morphogenesis ^[1]
    • embryonic forelimb morphogenesis ^[22]
    • embryonic hindlimb morphogenesis ^[7]
    • embryonic limb morphogenesis ^{[1, 2, 12]}
    • embryonic skeletal system morphogenesis ^[1]
    • endocardial cushion morphogenesis ^[19]
    • hindlimb morphogenesis ^[11]
    • in utero embryonic development ^[1]
    • mitral valve morphogenesis ^[4]
    • neural tube closure ^[5]
    • neuron migration ^[13]
    • ossification ^[1]
    • osteoblast differentiation ^[1]
    • positive regulation of cell motility ^[9]
    • positive regulation of epithelial to mesenchymal transition ^{[4, 9, 20]}
• Researchers have inferred, based on genetic interactions, that the gene product of Twist1
  • participates in the following biological processes:
    • embryonic cranial skeleton morphogenesis based on interactions with Runx2 ^[1]
    • negative regulation of tumor necrosis factor production based on interactions with Twist2 ^[18]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Twist1:
  • participates in the following biological processes:
    • aortic valve morphogenesis
    • cell proliferation involved in heart valve development
    • cellular response to hypoxia
    • embryonic camera-type eye formation
    • embryonic cranial skeleton morphogenesis
    • eyelid development in camera-type eye
    • negative regulation of apoptotic process
    • negative regulation of cellular senescence
    • negative regulation of DNA damage response, signal transduction by p53 class mediator
    • negative regulation of double-strand break repair
    • negative regulation of histone phosphorylation
    • negative regulation of osteoblast differentiation
    • negative regulation of phosphatidylinositol 3-kinase cascade
    • negative regulation of transcription from RNA polymerase II promoter
    • positive regulation of cell motility
    • positive regulation of epithelial cell proliferation
    • positive regulation of epithelial to mesenchymal transition
    • positive regulation of fatty acid beta-oxidation
    • positive regulation of gene expression
    • positive regulation of interleukin-6 secretion
    • positive regulation of monocyte chemotactic protein-1 production
    • positive regulation of transcription from RNA polymerase II promoter
    • positive regulation of transcription regulatory region DNA binding
    • positive regulation of tumor necrosis factor production
    • regulation of bone mineralization
    • transcription from RNA polymerase II promoter
  • performs the following molecular functions:
    • bHLH transcription factor binding
    • E-box binding
    • sequence-specific DNA binding RNA polymerase II transcription factor activity
    • transcription factor binding
  • is located in the following cellular components:
    • nucleus

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Summary text based on GO annotations supported by structural data

• Twist1 encodes a protein or proteins that contain the following InterPro domains: Helix-loop-helix domain, Twist, indicating that the gene product:
  • performs the following molecular functions:
    • protein dimerization activity

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Twist1 indicates that it:
  • participates in the following biological processes:
    • multicellular organismal development
    • muscle organ development
    • regulation of transcription, DNA-dependent
    • transcription, DNA-dependent
  • performs the following molecular functions:
    • DNA binding

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References

1. Bialek P et al. (2004) A twist code determines the onset of osteoblast differentiation. Dev Cell, 6:423-35. (PubMed:15030764)
2. Browning VL et al. (2001) Mutations of the Mouse Twist and sy (Fibrillin 2) Genes Induced by Chemical Mutagenesis of ES Cells. Genomics, 73:291-8. (PubMed:11350121)
3. Carver EA et al. (2002) Craniosynostosis in Twist heterozygous mice: A model for Saethre-Chotzen syndrome. Anat Rec, 268:90-2. (PubMed:12221714)
4. Chakraborty S et al. (2010) Twist1 promotes heart valve cell proliferation and extracellular matrix gene expression during development in vivo and is expressed in human diseased aortic valves. Dev Biol, 347:167-79. (PubMed:20804746)
5. Chen ZF et al. (1995) twist is required in head mesenchyme for cranial neural tube morphogenesis. Genes Dev, 9:686-99. (PubMed:7729687)
6. Connerney J et al. (2006) Twist1 dimer selection regulates cranial suture patterning and fusion. Dev Dyn, 235:1334-46. (PubMed:16502419)
7. el Ghouzzi V et al. (1997) Mutations of the TWIST gene in the Saethre-Chotzen syndrome [see comments] Nat Genet, 15:42-6. (PubMed:8988167)
8. Hebrok M et al. (1994) M-twist is an inhibitor of muscle differentiation. Dev Biol, 165:537-44. (PubMed:7958419)
9. Horikawa T et al. (2007) Twist and epithelial-mesenchymal transition are induced by the EBV oncoprotein latent membrane protein 1 and are associated with metastatic nasopharyngeal carcinoma. Cancer Res, 67:1970-8. (PubMed:17332324)
10. Laursen KB et al. (2007) Mechanism of transcriptional activation by the proto-oncogene Twist1. J Biol Chem, 282:34623-33. (PubMed:17893140)
11. Munroe RJ et al. (2000) Mouse mutants from chemically mutagenized embryonic stem cells. Nat Genet, 24:318-21. (PubMed:10700192)
12. O'Rourke MP et al. (2002) Twist plays an essential role in FGF and SHH signal transduction during mouse limb development. Dev Biol, 248:143-56. (PubMed:12142027)
13. Ota MS et al. (2004) Twist is required for patterning the cranial nerves and maintaining the viability of mesodermal cells. Dev Dyn, 230:216-28. (PubMed:15162501)
14. Pan D et al. (2009) Twist-1 is a PPARdelta-inducible, negative-feedback regulator of PGC-1alpha in brown fat metabolism. Cell, 137:73-86. (PubMed:19345188)
15. Phinney DG et al. (2006) Biological activities encoded by the murine mesenchymal stem cell transcriptome provide a basis for their developmental potential and broad therapeutic efficacy. Stem Cells, 24:186-98. (PubMed:16100003)
16. Piccinin S et al. (2012) A "twist box" code of p53 inactivation: twist box: p53 interaction promotes p53 degradation. Cancer Cell, 22:404-15. (PubMed:22975381)
17. Rohwedel J et al. (1995) M-twist expression inhibits mouse embryonic stem cell-derived myogenic differentiation in vitro. Exp Cell Res, 220:92-100. (PubMed:7664846)
18. Sharif MN et al. (2006) Twist mediates suppression of inflammation by type I IFNs and Axl. J Exp Med, 203:1891-901. (PubMed:16831897)
19. Vincentz JW et al. (2008) An absence of Twist1 results in aberrant cardiac neural crest morphogenesis. Dev Biol, 320:131-9. (PubMed:18539270)
20. Yang MH et al. (2008) Direct regulation of TWIST by HIF-1alpha promotes metastasis. Nat Cell Biol, 10:295-305. (PubMed:18297062)
21. Yasui K et al. (1998) Expression of a twist-related gene, Bbtwist, during the development of a lancelet species and its relation to cephalochordate anterior structures. Dev Biol, 195:49-59. (PubMed:9520323)
22. Zuniga A et al. (2002) Mouse Twist is required for fibroblast growth factor-mediated epithelial-mesenchymal signalling and cell survival during limb morphogenesis. Mech Dev, 114:51. (PubMed:12175489)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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