CleftGeneDB-Search

Gene: Twist1

Basic information

Tag	Content
Uniprot ID	P26687
Entrez ID	22160
Genbank protein ID	AAA40514.1; AAH83139.1; AAA40515.1; AAH33434.1;
Genbank nucleotide ID	NM_011658.2
Ensembl protein ID	ENSMUSP00000040089
Ensembl nucleotide ID	ENSMUSG00000035799
Gene name	Twist-related protein 1
Gene symbol	Twist1
Organism	Mus musculus
NCBI taxa ID	10090
Cleft type	CPO
Developmental stage	E13.5, E14.5, E15.5, E16.5
Data sources	Manually collected
Reference	14724733; 19414008;
Functional description	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.
Sequence	MMQDVSSSPV SPADDSLSNS EEEPDRQQPA SGKRGARKRR SSRRSAGGSA GPGGATGGGI 60 GGGDEPGSPA QGKRGKKSAG GGGGGGAGGG GGGGGGSSSG GGSPQSYEEL QTQRVMANVR 120 ERQRTQSLNE AFAALRKIIP TLPSDKLSKI QTLKLAARYI DFLYQVLQSD ELDSKMASCS 180 YVAHERLSYA FSVWRMEGAW SMSASH 206

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression during embryonic days (E11.5~E18.5) ~ adult days (Ps) in the lip and palate tissues. (X-axis: days, Y-axis: tissues)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	TWIST1	782170	G3N341			Bos taurus	Prediction	More>>
1:1 ortholog	TWIST1		A0A452EBT3			Capra hircus	Prediction	More>>
1:1 ortholog	TWIST1	7291	Q15672			Homo sapiens	Prediction	More>>
1:1 ortholog	Twist1	22160	P26687	CPO	E13.5, E14.5, E15.5, E16.5	Mus musculus	Publication	More>>
1:1 ortholog	TWIST1		H2R5G5			Pan troglodytes	Prediction	More>>
1:1 ortholog		100516456	A0A4X1TEI0			Sus scrofa	Prediction	More>>
1:1 ortholog	Twist1	85489	Q9EPJ1			Rattus norvegicus	Prediction	More>>

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISO
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	TAS
GO:0003700	DNA-binding transcription factor activity	IDA
GO:0005515	protein binding	IPI
GO:0008134	transcription factor binding	ISO
GO:0008134	transcription factor binding	IPI
GO:0019904	protein domain specific binding	IPI
GO:0042802	identical protein binding	IPI
GO:0042803	protein homodimerization activity	IDA
GO:0043425	bHLH transcription factor binding	ISO
GO:0070888	E-box binding	ISO
GO:0070888	E-box binding	TAS
GO:0070888	E-box binding	IDA
GO:0070888	E-box binding	IMP

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	ISO
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA
GO:0001503	ossification	IMP
GO:0001649	osteoblast differentiation	IMP
GO:0001701	in utero embryonic development	IMP
GO:0001764	neuron migration	IMP
GO:0001843	neural tube closure	IMP
GO:0003180	aortic valve morphogenesis	ISO
GO:0003180	aortic valve morphogenesis	IMP
GO:0003183	mitral valve morphogenesis	IMP
GO:0003203	endocardial cushion morphogenesis	IMP
GO:0003253	cardiac neural crest cell migration involved in outflow tract morphogenesis	IMP
GO:0007517	muscle organ development	IEA
GO:0010628	positive regulation of gene expression	ISO
GO:0010718	positive regulation of epithelial to mesenchymal transition	ISO
GO:0010718	positive regulation of epithelial to mesenchymal transition	IMP
GO:0014067	negative regulation of phosphatidylinositol 3-kinase signaling	ISO
GO:0030154	cell differentiation	IMP
GO:0030326	embryonic limb morphogenesis	IMP
GO:0030500	regulation of bone mineralization	ISO
GO:0032000	positive regulation of fatty acid beta-oxidation	ISO
GO:0032720	negative regulation of tumor necrosis factor production	IGI
GO:0032760	positive regulation of tumor necrosis factor production	ISO
GO:0033128	negative regulation of histone phosphorylation	ISO
GO:0035067	negative regulation of histone acetylation	IDA
GO:0035115	embryonic forelimb morphogenesis	IMP
GO:0035116	embryonic hindlimb morphogenesis	IMP
GO:0035137	hindlimb morphogenesis	IMP
GO:0035359	negative regulation of peroxisome proliferator activated receptor signaling pathway	IDA
GO:0042476	odontogenesis	IEA
GO:0042733	embryonic digit morphogenesis	IMP
GO:0043066	negative regulation of apoptotic process	ISO
GO:0043066	negative regulation of apoptotic process	IMP
GO:0043433	negative regulation of DNA-binding transcription factor activity	IDA
GO:0043518	negative regulation of DNA damage response, signal transduction by p53 class mediator	ISO
GO:0044092	negative regulation of molecular function	IDA
GO:0045596	negative regulation of cell differentiation	IDA
GO:0045668	negative regulation of osteoblast differentiation	ISO
GO:0045668	negative regulation of osteoblast differentiation	IDA
GO:0045843	negative regulation of striated muscle tissue development	IDA
GO:0045892	negative regulation of transcription, DNA-templated	ISO
GO:0045892	negative regulation of transcription, DNA-templated	IDA
GO:0045944	positive regulation of transcription by RNA polymerase II	ISO
GO:0045944	positive regulation of transcription by RNA polymerase II	TAS
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA
GO:0048511	rhythmic process	IEA
GO:0048642	negative regulation of skeletal muscle tissue development	IDA
GO:0048701	embryonic cranial skeleton morphogenesis	ISO
GO:0048701	embryonic cranial skeleton morphogenesis	IGI
GO:0048701	embryonic cranial skeleton morphogenesis	IMP
GO:0048704	embryonic skeletal system morphogenesis	IMP
GO:0050679	positive regulation of epithelial cell proliferation	ISO
GO:0060021	roof of mouth development	IEA
GO:0060363	cranial suture morphogenesis	IMP
GO:0060900	embryonic camera-type eye formation	ISO
GO:0061029	eyelid development in camera-type eye	ISO
GO:0061309	cardiac neural crest cell development involved in outflow tract morphogenesis	IMP
GO:0071363	cellular response to growth factor stimulus	IEA
GO:0071456	cellular response to hypoxia	ISO
GO:0071456	cellular response to hypoxia	IMP
GO:0071639	positive regulation of monocyte chemotactic protein-1 production	ISO
GO:2000144	positive regulation of DNA-templated transcription, initiation	ISO
GO:2000147	positive regulation of cell motility	ISO
GO:2000147	positive regulation of cell motility	IMP
GO:2000276	negative regulation of oxidative phosphorylation uncoupler activity	IDA
GO:2000679	positive regulation of transcription regulatory region DNA binding	ISO
GO:2000773	negative regulation of cellular senescence	ISO
GO:2000778	positive regulation of interleukin-6 secretion	ISO
GO:2000780	negative regulation of double-strand break repair	ISO
GO:2000793	cell proliferation involved in heart valve development	ISO
GO:2000793	cell proliferation involved in heart valve development	IMP
GO:2000802	positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation	IDA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	ISO
GO:0005634	nucleus	IDA
GO:0005654	nucleoplasm	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0010	Activator
KW-0090	Biological rhythms
KW-0217	Developmental protein
KW-0221	Differentiation
KW-0238	DNA-binding
KW-0517	Myogenesis
KW-0539	Nucleus
KW-1185	Reference proteome
KW-0678	Repressor
KW-0804	Transcription
KW-0805	Transcription regulation

Interpro

InterPro ID	InterPro Term
IPR011598	bHLH_dom
IPR036638	HLH_DNA-bd_sf
IPR015789	Twist-related

PROSITE

PROSITE ID	PROSITE Term
PS50888	BHLH

Pfam

Pfam ID	Pfam Term
PF00010	HLH

Gene: Twist1

Basic information

Gene expression information

Gene expression during embryonic days (E11.5~E18.5) ~ adult days (Ps) in the lip and palate tissues. (X-axis: days, Y-axis: tissues)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction