Twist-related protein 1

TWIST1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2MJV
Identifiers
Aliases	TWIST1, twist family bHLH transcription factor 1, ACS3, BPES2, BPES3, CRS, CRS1, SCS, TWIST, bHLHa38, CSO, SWCOS
External IDs	OMIM: 601622; MGI: 98872; HomoloGene: 402; GeneCards: TWIST1; OMA:TWIST1 - orthologs
Gene location (Human)
Chr.	Chromosome 7 (human)
End	19,117,636 bp
Gene location (Mouse)
Chr.	Chromosome 12 (mouse)
End	34,009,828 bp
RNA expression pattern
	Top expressed in
	periodontal fiber; ; mucosa of paranasal sinus; ; oocyte; ; buccal mucosa cell; ; tendon of biceps brachii; ; pericardium; ; parietal pleura; ; lactiferous duct; ; placenta; ; stromal cell of endometrium;
	Top expressed in
	maxillary prominence; ; mandibular prominence; ; desmocranium; ; hand; ; genital tubercle; ; allantois; ; endocardial cushion; ; dermis; ; abdominal wall; ; somatopleuric mesenchyme;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	DNA binding; protein dimerization activity; protein homodimerization activity; protein domain specific binding; DNA-binding transcription factor activity; transcription factor binding; bHLH transcription factor binding; E-box binding; protein binding; protein heterodimerization activity; DNA-binding transcription factor activity, RNA polymerase II-specific;
Cellular component	nucleus; nucleoplasm;
Biological process	positive regulation of transcription regulatory region DNA binding; embryonic skeletal system morphogenesis; positive regulation of fatty acid beta-oxidation; roof of mouth development; cell differentiation; positive regulation of cell motility; regulation of transcription, DNA-templated; negative regulation of molecular function; ossification; rhythmic process; positive regulation of epithelial cell proliferation; negative regulation of striated muscle tissue development; regulation of bone mineralization; aortic valve morphogenesis; negative regulation of cell differentiation; cardiac neural crest cell migration involved in outflow tract morphogenesis; cellular response to growth factor stimulus; positive regulation of monocyte chemotactic protein-1 production; muscle organ development; embryonic digit morphogenesis; negative regulation of apoptotic process; neuron migration; in utero embryonic development; negative regulation of transcription by RNA polymerase II; outer ear morphogenesis; eyelid development in camera-type eye; mitral valve morphogenesis; positive regulation of DNA-templated transcription, initiation; positive regulation of epithelial to mesenchymal transition; negative regulation of DNA-binding transcription factor activity; transcription, DNA-templated; negative regulation of osteoblast differentiation; positive regulation of angiogenesis; hindlimb morphogenesis; negative regulation of phosphatidylinositol 3-kinase signaling; cranial suture morphogenesis; odontogenesis; endocardial cushion morphogenesis; negative regulation of double-strand break repair; multicellular organism development; cardiac neural crest cell development involved in outflow tract morphogenesis; neural tube closure; positive regulation of gene expression; negative regulation of DNA damage response, signal transduction by p53 class mediator; negative regulation of skeletal muscle tissue development; embryonic limb morphogenesis; negative regulation of oxidative phosphorylation uncoupler activity; osteoblast differentiation; positive regulation of tumor necrosis factor production; cell proliferation involved in heart valve development; embryonic cranial skeleton morphogenesis; negative regulation of tumor necrosis factor production; negative regulation of peroxisome proliferator activated receptor signaling pathway; positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation; negative regulation of histone acetylation; embryonic camera-type eye formation; bone development; embryonic forelimb morphogenesis; cellular response to hypoxia; positive regulation of transcription by RNA polymerase II; negative regulation of cellular senescence; embryonic hindlimb morphogenesis; negative regulation of transcription, DNA-templated; cytokine-mediated signaling pathway;
	Sources:Amigo / QuickGO
Orthologs
	7291
	22160
	ENSG00000122691
	ENSMUSG00000035799
	Q15672
	P26687
	NM_000474
	NM_011658
	NP_000465
	NP_035788
	Wikidata
View/Edit Human	View/Edit Mouse

Twist-related protein 1 (TWIST1) also known as class A basic helix–loop–helix protein 38 (bHLHa38) is a basic helix-loop-helix transcription factor that in humans is encoded by the TWIST1 gene.