Version 5.4
Homo sapiens Gene: TWIST1
Summary
InnateDB Gene IDBG-9102.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TWIST1
Gene Name twist homolog 1 (Drosophila)
Synonyms ACS3; bHLHa38; BPES2; BPES3; CRS; CRS1; SCS; TWIST
Species Homo sapiens
Ensembl Gene ENSG00000122691
Encoded Proteins
IDBP-9104
twist homolog 1 (Drosophila)
IDBP-75693
twist homolog 1 (Drosophila)
IDBP-366875
twist homolog 1 (Drosophila)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:19020991-19117672
Strand Reverse strand
Band p21.1
Transcripts
ENST00000242261 ENSP00000242261
ENST00000354571 ENSP00000346582
ENST00000443687 ENSP00000416986
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 39 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 39 [view]
Protein-Protein 34 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 2 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000981 sequence-specific DNA binding RNA polymerase II transcription factor activity
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0019904 protein domain specific binding
GO:0042803 protein homodimerization activity
GO:0043425 bHLH transcription factor binding
GO:0046982 protein heterodimerization activity
GO:0046983 protein dimerization activity
GO:0070888 E-box binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001503 ossification
GO:0001649 osteoblast differentiation
GO:0001701 in utero embryonic development
GO:0001764 neuron migration
GO:0001843 neural tube closure
GO:0003180 aortic valve morphogenesis
GO:0003183 mitral valve morphogenesis
GO:0003203 endocardial cushion morphogenesis
GO:0003253 cardiac neural crest cell migration involved in outflow tract morphogenesis
GO:0006366 transcription from RNA polymerase II promoter
GO:0007517 muscle organ development
GO:0010628 positive regulation of gene expression
GO:0010718 positive regulation of epithelial to mesenchymal transition
GO:0014067 negative regulation of phosphatidylinositol 3-kinase signaling
GO:0030154 cell differentiation
GO:0030326 embryonic limb morphogenesis
GO:0030500 regulation of bone mineralization
GO:0032000 positive regulation of fatty acid beta-oxidation
GO:0032720 negative regulation of tumor necrosis factor production
GO:0032760 positive regulation of tumor necrosis factor production
GO:0033128 negative regulation of histone phosphorylation
GO:0035067 negative regulation of histone acetylation
GO:0035115 embryonic forelimb morphogenesis
GO:0035116 embryonic hindlimb morphogenesis
GO:0035137 hindlimb morphogenesis
GO:0035359 negative regulation of peroxisome proliferator activated receptor signaling pathway
GO:0042473 outer ear morphogenesis
GO:0042476 odontogenesis
GO:0042733 embryonic digit morphogenesis
GO:0043066 negative regulation of apoptotic process
GO:0043433 negative regulation of sequence-specific DNA binding transcription factor activity
GO:0043518 negative regulation of DNA damage response, signal transduction by p53 class mediator
GO:0044092 negative regulation of molecular function
GO:0045596 negative regulation of cell differentiation
GO:0045668 negative regulation of osteoblast differentiation
GO:0045766 positive regulation of angiogenesis
GO:0045843 negative regulation of striated muscle tissue development
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048511 rhythmic process
GO:0048642 negative regulation of skeletal muscle tissue development
GO:0048701 embryonic cranial skeleton morphogenesis
GO:0048704 embryonic skeletal system morphogenesis
GO:0050679 positive regulation of epithelial cell proliferation
GO:0060021 palate development
GO:0060348 bone development
GO:0060363 cranial suture morphogenesis
GO:0060900 embryonic camera-type eye formation
GO:0061029 eyelid development in camera-type eye
GO:0061309 cardiac neural crest cell development involved in outflow tract morphogenesis
GO:0071363 cellular response to growth factor stimulus
GO:0071456 cellular response to hypoxia
GO:0071639 positive regulation of monocyte chemotactic protein-1 production
GO:2000147 positive regulation of cell motility
GO:2000276 negative regulation of oxidative phosphorylation uncoupler activity
GO:2000679 positive regulation of transcription regulatory region DNA binding
GO:2000773 negative regulation of cellular senescence
GO:2000778 positive regulation of interleukin-6 secretion
GO:2000780 negative regulation of double-strand break repair
GO:2000793 cell proliferation involved in heart valve development
GO:2000802 positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation
Cellular Component
GO:0005634 nucleus
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000035799
View Gene Order
ENSBTAG00000046922
Not yet available
Pathways
NETPATH
REACTOME
KEGG
INOH
PID NCI
hes_heypathway
Notch-mediated HES/HEY network
hif2pathway
HIF-2-alpha transcription factor network
Cross-References
SwissProt Q15672
TrEMBL
UniProt Splice Variant
Entrez Gene 7291
UniGene Hs.66744
RefSeq NM_000474 XM_006715769
HUGO HGNC:12428
OMIM 601622
CCDS CCDS5367
HPRD 03374
IMGT
EMBL AC003986 BC036704 CH236948 U80998 X91662 X99268 Y10871
GenPept AAC50930 AAC60381 AAH36704 CAA62850 CAA67664 CAA71821 EAL24279
RNA Seq Atlas 7291

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca