UniProt Accession

 TWST1_HUMAN; Q15672; A4D128; Q92487; Q99804 

Genbank Protein ID

 X91662; X99268; U80998; Y10871; AC003986; CH236948; BC036704 

Genbank Nucleotide ID

 CAA62850.1; CAA67664.1; AAC50930.1; CAA71821.1; AAC60381.2; EAL24279.1; AAH36704.1 

Protein Name

 Twist-related protein 1 

Protein Synonyms/Alias

 Class A basic helix-loop-helix protein 38; bHLHa38; H-twist 

Gene Name

 TWIST1 

Gene Synonyms/Alias

 BHLHA38; TWIST 

Created Date

 July 27, 2013 

Organism

 Homo sapiens (Human) 

NCBI Taxa ID

 9606 

Lysine Modification

Position	Peptide	Type	References
73	PGSPAQGKRGKKSAG	ubiquitination	[1]

Reference

 [1] Landscape of the PARKIN-dependent ubiquitylome in response to mitochondrial depolarization.
 Sarraf SA, Raman M, Guarani-Pereira V, Sowa ME, Huttlin EL, Gygi SP, Harper JW.
 Nature. 2013 Apr 18;496(7445):372-6. [PMID: 23503661] 

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. 

Sequence Annotation

 DOMAIN 108 159 bHLH.
 REGION 161 191 Sufficient for transactivation activity  

Keyword

 Activator; Complete proteome; Craniosynostosis; Developmental protein; Differentiation; Disease mutation; DNA-binding; Myogenesis; Nucleus; Polymorphism; Reference proteome; Transcription; Transcription regulation. 

Sequence Source

 UniProt (SWISSPROT/TrEMBL); GenBank; EMBL 

Protein Length

 202 AA 

Protein Sequence

Gene Ontology

 GO:0005634; C:nucleus; IDA:UniProtKB.
 GO:0070888; F:E-box binding; IDA:BHF-UCL.
 GO:0000981; F:sequence-specific DNA binding RNA polymerase II transcription factor activity; IDA:BHF-UCL.
 GO:0003180; P:aortic valve morphogenesis; IMP:BHF-UCL.
 GO:0006915; P:apoptotic process; IEA:Compara.
 GO:0003253; P:cardiac neural crest cell migration involved in outflow tract morphogenesis; IEA:Compara.
 GO:2000793; P:cell proliferation involved in heart valve development; IMP:BHF-UCL.
 GO:0071456; P:cellular response to hypoxia; IMP:BHF-UCL.
 GO:0060363; P:cranial suture morphogenesis; TAS:BHF-UCL.
 GO:0060900; P:embryonic camera-type eye formation; IMP:BHF-UCL.
 GO:0048701; P:embryonic cranial skeleton morphogenesis; IMP:BHF-UCL.
 GO:0042733; P:embryonic digit morphogenesis; TAS:BHF-UCL.
 GO:0035115; P:embryonic forelimb morphogenesis; IEA:Compara.
 GO:0035116; P:embryonic hindlimb morphogenesis; IEA:Compara.
 GO:0003203; P:endocardial cushion morphogenesis; IEA:Compara.
 GO:0061029; P:eyelid development in camera-type eye; IMP:BHF-UCL.
 GO:0001701; P:in utero embryonic development; IEA:Compara.
 GO:0003183; P:mitral valve morphogenesis; IEA:Compara.
 GO:0007517; P:muscle organ development; IEA:UniProtKB-KW.
 GO:2000773; P:negative regulation of cellular senescence; IMP:BHF-UCL.
 GO:0043518; P:negative regulation of DNA damage response, signal transduction by p53 class mediator; IMP:BHF-UCL.
 GO:2000780; P:negative regulation of double-strand break repair; IMP:BHF-UCL.
 GO:0035067; P:negative regulation of histone acetylation; IEA:Compara.
 GO:0033128; P:negative regulation of histone phosphorylation; IMP:BHF-UCL.
 GO:0045668; P:negative regulation of osteoblast differentiation; IMP:BHF-UCL.
 GO:2000276; P:negative regulation of oxidative phosphorylation uncoupler activity; IEA:Compara.
 GO:0035359; P:negative regulation of peroxisome proliferator activated receptor signaling pathway; IEA:Compara.
 GO:0014067; P:negative regulation of phosphatidylinositol 3-kinase cascade; IMP:BHF-UCL.
 GO:0043433; P:negative regulation of sequence-specific DNA binding transcription factor activity; IEA:Compara.
 GO:0048642; P:negative regulation of skeletal muscle tissue development; IEA:Compara.
 GO:0000122; P:negative regulation of transcription from RNA polymerase II promoter; IMP:BHF-UCL.
 GO:0032720; P:negative regulation of tumor necrosis factor production; IEA:Compara.
 GO:0001843; P:neural tube closure; IEA:Compara.
 GO:0001764; P:neuron migration; IEA:Compara.
 GO:0001503; P:ossification; TAS:BHF-UCL.
 GO:0001649; P:osteoblast differentiation; IEA:Compara.
 GO:0042473; P:outer ear morphogenesis; TAS:BHF-UCL.
 GO:0045766; P:positive regulation of angiogenesis; NAS:BHF-UCL.
 GO:2000147; P:positive regulation of cell motility; IMP:BHF-UCL.
 GO:2000802; P:positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation; IEA:Compara.
 GO:0010718; P:positive regulation of epithelial to mesenchymal transition; IMP:BHF-UCL.
 GO:0032000; P:positive regulation of fatty acid beta-oxidation; IMP:BHF-UCL.
 GO:2000778; P:positive regulation of interleukin-6 secretion; IMP:BHF-UCL.
 GO:0071639; P:positive regulation of monocyte chemotactic protein-1 production; IMP:BHF-UCL.
 GO:0045944; P:positive regulation of transcription from RNA polymerase II promoter; IDA:BHF-UCL.
 GO:2000679; P:positive regulation of transcription regulatory region DNA binding; IMP:BHF-UCL.
 GO:0032760; P:positive regulation of tumor necrosis factor production; IMP:BHF-UCL.
 GO:0030500; P:regulation of bone mineralization; IMP:BHF-UCL. 

Interpro

 IPR011598; bHLH_dom.
 IPR015789; Twist_related. 

Pfam

 PF00010; HLH 

SMART

 SM00353; HLH 

PROSITE

 PS50888; BHLH 

PRINTS