InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TWIST1

Summary

InnateDB Protein

IDBP-9104.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TWIST1

Protein Name

twist homolog 1 (Drosophila)

Synonyms

ACS3; bHLHa38; BPES2; BPES3; CRS; CRS1; SCS; TWIST;

Species

Homo sapiens

Ensembl Protein

ENSP00000242261

InnateDB Gene

IDBG-9102 (TWIST1)

Protein Structure

UniProt Annotation

Function

Acts as a transcriptional regulator. Inhibits myogenesis by sequestrating E proteins, inhibiting trans-activation by MEF2, and inhibiting DNA-binding by MYOD1 through physical interaction. This interaction probably involves the basic domains of both proteins. Also represses expression of proinflammatory cytokines such as TNFA and IL1B. Regulates cranial suture patterning and fusion. Activates transcription as a heterodimer with E proteins. Regulates gene expression differentially, depending on dimer composition. Homodimers induce expression of FGFR2 and POSTN while heterodimers repress FGFR2 and POSTN expression and induce THBS1 expression. Heterodimerization is also required for osteoblast differentiation. Represses the activity of the circadian transcriptional activator: NPAS2-ARNTL/BMAL1 heterodimer (By similarity). {ECO:0000250}.

Subcellular Localization

Nucleus.

Disease Associations

Saethre-Chotzen syndrome (SCS) [MIM:101400]: A craniosynostosis syndrome characterized by coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces, and clinodactyly. {ECO:0000269PubMed:11754069, ECO:0000269PubMed:8988166, ECO:0000269PubMed:8988167}. Note=The disease is caused by mutations affecting the gene represented in this entry.Robinow-Sorauf syndrome (RSS) [MIM:180750]: An autosomal dominant syndrome characterized by craniosynostosis, asymmetry of orbits, flat face, hypertelorism, a thin, long, and pointed nose, shallow orbits, strabismus, and broad great toes with a duplication of the distal phalanx. RSS is clinically similar to Saethre-Chotzen syndrome, with the most characteristic additional feature in Robinow-Sorauf syndrome being a bifid or partially duplicated hallux. Note=The disease is caused by mutations affecting the gene represented in this entry.Craniosynostosis 1 (CRS1) [MIM:123100]: A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. {ECO:0000269PubMed:17343269}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Subset of mesodermal cells.

Comments

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