HUMAN:TWST1

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	TWIST1 (synonyms: BHLHA38, TWIST)
Protein Name(s)	Twist-related protein 1 Class A basic helix-loop-helix protein 38 bHLHa38 H-twist
External Links
UniProt	Q15672
EMBL	X91662 X99268 U80998 Y10871 AC003986 CH236948 BC036704
CCDS	CCDS5367.1
PIR	G01204
RefSeq	NP_000465.1 XP_006715832.1
UniGene	Hs.644998 Hs.66744
PDB	2MJV
PDBsum	2MJV
ProteinModelPortal	Q15672
SMR	Q15672
BioGrid	113142
IntAct	Q15672
MINT	MINT-8309513
STRING	9606.ENSP00000242261
PhosphoSite	Q15672
DMDM	2498009
PaxDb	Q15672
PRIDE	Q15672
DNASU	7291
Ensembl	ENST00000242261
GeneID	7291
KEGG	hsa:7291
UCSC	uc003sum.3
CTD	7291
GeneCards	GC07M019121
GeneReviews	TWIST1
HGNC	HGNC:12428
MIM	101400 123100 180750 601622
neXtProt	NX_Q15672
Orphanet	35099 35093 794
PharmGKB	PA37088
eggNOG	NOG258515
GeneTree	ENSGT00760000119097
HOGENOM	HOG000261629
InParanoid	Q15672
KO	K09069
OMA	DRQPKRC
PhylomeDB	Q15672
TreeFam	TF315153
SignaLink	Q15672
ChiTaRS	TWIST1
GeneWiki	Twist_transcription_factor
GenomeRNAi	7291
NextBio	28507
PRO	PR:Q15672
Proteomes	UP000005640
Bgee	Q15672
CleanEx	HS_TWIST1
Genevestigator	Q15672
GO	GO:0005634 GO:0043425 GO:0070888 GO:0000981 GO:0008134 GO:0003180 GO:0003253 GO:2000793 GO:0071363 GO:0071456 GO:0060363 GO:0060900 GO:0048701 GO:0042733 GO:0035115 GO:0035116 GO:0003203 GO:0061029 GO:0001701 GO:0003183 GO:0007517 GO:0043066 GO:2000773 GO:0043518 GO:2000780 GO:0035067 GO:0033128 GO:0045668 GO:2000276 GO:0035359 GO:0014067 GO:0043433 GO:0048642 GO:0000122 GO:0045892 GO:0032720 GO:0001843 GO:0001764 GO:0042476 GO:0001503 GO:0001649 GO:0042473 GO:0060021 GO:0045766 GO:2000147 GO:2000802 GO:0050679 GO:0010718 GO:0032000 GO:0010628 GO:2000778 GO:0071639 GO:0045944 GO:2000679 GO:0032760 GO:0030500 GO:0048511 GO:0006366
Gene3D	4.10.280.10
InterPro	IPR011598
Pfam	PF00010
SMART	SM00353
SUPFAM	SSF47459
PROSITE	PS50888

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Notes	Status
	GO:0010717	regulation of epithelial to mesenchymal transition	PMID:20219012^[1]	ECO:0000315			P	Nuclear Overexpression of Twist1 is associated with metastasis of HCC lines.	complete CACAO 3892
	GO:2000144	positive regulation of DNA-dependent transcription, initiation	PMID:17332325^[2]	ECO:0000314			P	According to Figure 3A, the TWIST protein binds to and transactivates the AKT2 promoter, leading to doasage-dependent increase in AKT2.	complete CACAO 7152
enables	GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	PMID:19274049^[3]	ECO:0000303	author statement without traceable support used in manual assertion		F	Seeded From UniProt	complete
enables	GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	PMID:19274049^[3]	ECO:0000255	match to sequence model evidence used in manual assertion	InterPro:IPR011598 InterPro:IPR015789	F	Seeded From UniProt	complete
enables	GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	GO_REF:0000113	ECO:0005556	multiple sequence alignment evidence used in manual assertion	UniProtKB:Q64221	F	Seeded From UniProt	complete
involved_in	GO:0045892	negative regulation of transcription, DNA-templated	PMID:25981568^[4]	ECO:0000314	direct assay evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:2000144	positive regulation of DNA-templated transcription, initiation	PMID:17332325^[2]	ECO:0000314	direct assay evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:2000793	cell proliferation involved in heart valve development	PMID:20804746^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:2000780	negative regulation of double-strand break repair	PMID:17690110^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:2000778	positive regulation of interleukin-6 secretion	PMID:20007935^[7]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:2000773	negative regulation of cellular senescence	PMID:17690110^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:2000679	positive regulation of transcription regulatory region DNA binding	PMID:12270142^[8]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:2000147	positive regulation of cell motility	PMID:17332325^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:2000147	positive regulation of cell motility	PMID:17332324^[9]	ECO:0000303	author statement without traceable support used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0071639	positive regulation of monocyte chemotactic protein-1 production	PMID:20007935^[7]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0071456	cellular response to hypoxia	PMID:18297062^[10]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
enables	GO:0070888	E-box binding	PMID:17332325^[2]	ECO:0000314	direct assay evidence used in manual assertion		F	Seeded From UniProt	complete
enables	GO:0070888	E-box binding	PMID:20804746^[5]	ECO:0000314	direct assay evidence used in manual assertion		F	Seeded From UniProt	complete
involved_in	GO:0061029	eyelid development in camera-type eye	PMID:17070479^[11]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0060900	embryonic camera-type eye formation	PMID:17070479^[11]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0048701	embryonic cranial skeleton morphogenesis	PMID:8988167^[12]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0048701	embryonic cranial skeleton morphogenesis	PMID:8988166^[13]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0045944	positive regulation of transcription by RNA polymerase II	PMID:12270142^[8]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0045944	positive regulation of transcription by RNA polymerase II	PMID:17332325^[2]	ECO:0000314	direct assay evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0045766	positive regulation of angiogenesis	PMID:17987801^[14]	ECO:0000303	author statement without traceable support used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0045668	negative regulation of osteoblast differentiation	PMID:16888803^[15]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0043518	negative regulation of DNA damage response, signal transduction by p53 class mediator	PMID:17690110^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
enables	GO:0043425	bHLH transcription factor binding	PMID:10749989^[16]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:P15923-1	F	Seeded From UniProt	complete
involved_in	GO:0033128	negative regulation of histone phosphorylation	PMID:17690110^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0032760	positive regulation of tumor necrosis factor production	PMID:20007935^[7]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0032000	positive regulation of fatty acid beta-oxidation	PMID:20007935^[7]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0030500	regulation of bone mineralization	PMID:19597909^[17]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0014067	negative regulation of phosphatidylinositol 3-kinase signaling	PMID:17003487^[18]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0010718	positive regulation of epithelial to mesenchymal transition	PMID:18297062^[10]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0010628	positive regulation of gene expression	PMID:17003487^[18]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	PMID:10749989^[16]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:0003180	aortic valve morphogenesis	PMID:20804746^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
enables	GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	PMID:17332325^[2]	ECO:0000314	direct assay evidence used in manual assertion		F	Seeded From UniProt	complete
involved_in	GO:0000122	negative regulation of transcription by RNA polymerase II	PMID:17690110^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0045892	negative regulation of transcription, DNA-templated	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P26687	P	Seeded From UniProt	complete
enables	GO:0008134	transcription factor binding	PMID:15545268^[19]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:P20719	F	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	PMID:15545268^[19]	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:2000802	positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	P	Seeded From UniProt	complete
involved_in	GO:2000793	cell proliferation involved in heart valve development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	P	Seeded From UniProt	complete
involved_in	GO:2000276	negative regulation of oxidative phosphorylation uncoupler activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	P	Seeded From UniProt	complete
involved_in	GO:2000147	positive regulation of cell motility	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	P	Seeded From UniProt	complete
involved_in	GO:0071456	cellular response to hypoxia	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	P	Seeded From UniProt	complete
enables	GO:0070888	E-box binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	F	Seeded From UniProt	complete
involved_in	GO:0061309	cardiac neural crest cell development involved in outflow tract morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	P	Seeded From UniProt	complete
involved_in	GO:0060363	cranial suture morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	P	Seeded From UniProt	complete
involved_in	GO:0048704	embryonic skeletal system morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	P	Seeded From UniProt	complete
involved_in	GO:0048701	embryonic cranial skeleton morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	P	Seeded From UniProt	complete
involved_in	GO:0048642	negative regulation of skeletal muscle tissue development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	P	Seeded From UniProt	complete
enables	GO:0046982	protein heterodimerization activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	F	Seeded From UniProt	complete
involved_in	GO:0045944	positive regulation of transcription by RNA polymerase II	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	P	Seeded From UniProt	complete
involved_in	GO:0045892	negative regulation of transcription, DNA-templated	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	P	Seeded From UniProt	complete
involved_in	GO:0045843	negative regulation of striated muscle tissue development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	P	Seeded From UniProt	complete
involved_in	GO:0045668	negative regulation of osteoblast differentiation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	P	Seeded From UniProt	complete
involved_in	GO:0045596	negative regulation of cell differentiation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	P	Seeded From UniProt	complete
involved_in	GO:0044092	negative regulation of molecular function	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	P	Seeded From UniProt	complete
involved_in	GO:0043433	negative regulation of DNA-binding transcription factor activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	P	Seeded From UniProt	complete
involved_in	GO:0043066	negative regulation of apoptotic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	P	Seeded From UniProt	complete
enables	GO:0042803	protein homodimerization activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	F	Seeded From UniProt	complete
involved_in	GO:0042733	embryonic digit morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	P	Seeded From UniProt	complete
involved_in	GO:0035359	negative regulation of peroxisome proliferator activated receptor signaling pathway	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	P	Seeded From UniProt	complete
involved_in	GO:0035137	hindlimb morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	P	Seeded From UniProt	complete
involved_in	GO:0035116	embryonic hindlimb morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	P	Seeded From UniProt	complete
involved_in	GO:0035115	embryonic forelimb morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	P	Seeded From UniProt	complete
involved_in	GO:0035067	negative regulation of histone acetylation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	P	Seeded From UniProt	complete
involved_in	GO:0032720	negative regulation of tumor necrosis factor production	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	P	Seeded From UniProt	complete
involved_in	GO:0030326	embryonic limb morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	P	Seeded From UniProt	complete
involved_in	GO:0030154	cell differentiation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	P	Seeded From UniProt	complete
enables	GO:0019904	protein domain specific binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	F	Seeded From UniProt	complete
involved_in	GO:0010718	positive regulation of epithelial to mesenchymal transition	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	P	Seeded From UniProt	complete
enables	GO:0008134	transcription factor binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	F	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	C	Seeded From UniProt	complete
enables	GO:0003700	DNA-binding transcription factor activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	F	Seeded From UniProt	complete
involved_in	GO:0003253	cardiac neural crest cell migration involved in outflow tract morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	P	Seeded From UniProt	complete
involved_in	GO:0003203	endocardial cushion morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	P	Seeded From UniProt	complete
involved_in	GO:0003183	mitral valve morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	P	Seeded From UniProt	complete
involved_in	GO:0003180	aortic valve morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	P	Seeded From UniProt	complete
involved_in	GO:0001843	neural tube closure	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	P	Seeded From UniProt	complete
involved_in	GO:0001764	neuron migration	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	P	Seeded From UniProt	complete
involved_in	GO:0001701	in utero embryonic development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	P	Seeded From UniProt	complete
involved_in	GO:0001649	osteoblast differentiation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	P	Seeded From UniProt	complete
involved_in	GO:0001503	ossification	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	P	Seeded From UniProt	complete
involved_in	GO:0000122	negative regulation of transcription by RNA polymerase II	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P26687 ensembl:ENSMUSP00000040089	P	Seeded From UniProt	complete
involved_in	GO:0071363	cellular response to growth factor stimulus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9EPJ1 ensembl:ENSRNOP00000014763	P	Seeded From UniProt	complete
involved_in	GO:0060348	bone development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9EPJ1 ensembl:ENSRNOP00000014763	P	Seeded From UniProt	complete
involved_in	GO:0060021	roof of mouth development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9EPJ1 ensembl:ENSRNOP00000014763	P	Seeded From UniProt	complete
involved_in	GO:0050679	positive regulation of epithelial cell proliferation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9EPJ1 ensembl:ENSRNOP00000014763	P	Seeded From UniProt	complete
involved_in	GO:0043066	negative regulation of apoptotic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9EPJ1 ensembl:ENSRNOP00000014763	P	Seeded From UniProt	complete
involved_in	GO:0042476	odontogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9EPJ1 ensembl:ENSRNOP00000014763	P	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9EPJ1 ensembl:ENSRNOP00000014763	C	Seeded From UniProt	complete
enables	GO:0046983	protein dimerization activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR011598 InterPro:IPR036638	F	Seeded From UniProt	complete
involved_in	GO:0060363	cranial suture morphogenesis	PMID:11001584^[20]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0042733	embryonic digit morphogenesis	PMID:11001584^[20]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0042473	outer ear morphogenesis	PMID:11001584^[20]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0001503	ossification	PMID:11001584^[20]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
involved_in	GO:0019221	cytokine-mediated signaling pathway	Reactome:R-HSA-6785807	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
part_of	GO:0005654	nucleoplasm	Reactome:R-HSA-8940032 Reactome:R-HSA-6790036	ECO:0000304	author statement supported by traceable reference used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:0007517	muscle organ development	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0517	P	Seeded From UniProt	complete
enables	GO:0003677	DNA binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0238	F	Seeded From UniProt	complete
involved_in	GO:0030154	cell differentiation	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0221	P	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0539 UniProtKB-SubCell:SL-0191	C	Seeded From UniProt	complete
involved_in	GO:0048511	rhythmic process	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0090	P	Seeded From UniProt	complete
involved_in	GO:0007275	multicellular organism development	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0217	P	Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ Zhao, XL et al. (2011) Promotion of hepatocellular carcinoma metastasis through matrix metalloproteinase activation by epithelial-mesenchymal transition regulator Twist1. J. Cell. Mol. Med. 15 691-700 PubMed GONUTS page
↑ ^2.0 ^2.1 ^2.2 ^2.3 ^2.4 ^2.5 Cheng, GZ et al. (2007) Twist transcriptionally up-regulates AKT2 in breast cancer cells leading to increased migration, invasion, and resistance to paclitaxel. Cancer Res. 67 1979-87 PubMed GONUTS page
↑ ^3.0 ^3.1 Vaquerizas, JM et al. (2009) A census of human transcription factors: function, expression and evolution. Nat. Rev. Genet. 10 252-63 PubMed GONUTS page
↑ Deng, X et al. (2015) Functional Analysis of Two Novel Mutations in TWIST1 Protein Motifs Found in Ventricular Septal Defect Patients. Pediatr Cardiol 36 1602-9 PubMed GONUTS page
↑ ^5.0 ^5.1 ^5.2 Chakraborty, S et al. (2010) Twist1 promotes heart valve cell proliferation and extracellular matrix gene expression during development in vivo and is expressed in human diseased aortic valves. Dev. Biol. 347 167-79 PubMed GONUTS page
↑ ^6.0 ^6.1 ^6.2 ^6.3 ^6.4 Kwok, WK et al. (2007) Role of p14ARF in TWIST-mediated senescence in prostate epithelial cells. Carcinogenesis 28 2467-75 PubMed GONUTS page
↑ ^7.0 ^7.1 ^7.2 ^7.3 Pettersson, AT et al. (2010) A possible inflammatory role of twist1 in human white adipocytes. Diabetes 59 564-71 PubMed GONUTS page
↑ ^8.0 ^8.1 Yousfi, M et al. (2002) TWIST inactivation reduces CBFA1/RUNX2 expression and DNA binding to the osteocalcin promoter in osteoblasts. Biochem. Biophys. Res. Commun. 297 641-4 PubMed GONUTS page
↑ Horikawa, T et al. (2007) Twist and epithelial-mesenchymal transition are induced by the EBV oncoprotein latent membrane protein 1 and are associated with metastatic nasopharyngeal carcinoma. Cancer Res. 67 1970-8 PubMed GONUTS page
↑ ^10.0 ^10.1 Yang, MH et al. (2008) Direct regulation of TWIST by HIF-1alpha promotes metastasis. Nat. Cell Biol. 10 295-305 PubMed GONUTS page
↑ ^11.0 ^11.1 Jadico, SK et al. (2006) Ocular phenotype correlations in patients with TWIST versus FGFR3 genetic mutations. J AAPOS 10 435-44 PubMed GONUTS page
↑ el Ghouzzi, V et al. (1997) Mutations of the TWIST gene in the Saethre-Chotzen syndrome. Nat. Genet. 15 42-6 PubMed GONUTS page
↑ Howard, TD et al. (1997) Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. Nat. Genet. 15 36-41 PubMed GONUTS page
↑ Niu, RF et al. (2007) Up-regulation of Twist induces angiogenesis and correlates with metastasis in hepatocellular carcinoma. J. Exp. Clin. Cancer Res. 26 385-94 PubMed GONUTS page
↑ Komaki, M et al. (2007) Twist negatively regulates osteoblastic differentiation in human periodontal ligament cells. J. Cell. Biochem. 100 303-14 PubMed GONUTS page
↑ ^16.0 ^16.1 El Ghouzzi, V et al. (2000) Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location. Hum. Mol. Genet. 9 813-9 PubMed GONUTS page
↑ Hwang, JY et al. (2010) Association of TWIST1 gene polymorphisms with bone mineral density in postmenopausal women. Osteoporos Int 21 757-64 PubMed GONUTS page
↑ ^18.0 ^18.1 Guenou, H et al. (2006) Down-regulation of ubiquitin ligase Cbl induced by twist haploinsufficiency in Saethre-Chotzen syndrome results in increased PI3K/Akt signaling and osteoblast proliferation. Am. J. Pathol. 169 1303-11 PubMed GONUTS page
↑ ^19.0 ^19.1 Stasinopoulos, IA et al. (2005) HOXA5-twist interaction alters p53 homeostasis in breast cancer cells. J. Biol. Chem. 280 2294-9 PubMed GONUTS page
↑ ^20.0 ^20.1 ^20.2 ^20.3 Villavicencio, EH et al. (2000) The sonic hedgehog-patched-gli pathway in human development and disease. Am. J. Hum. Genet. 67 1047-54 PubMed GONUTS page

[PMID:20219012-1] Zhao, XL et al. (2011) Promotion of hepatocellular carcinoma metastasis through matrix metalloproteinase activation by epithelial-mesenchymal transition regulator Twist1. J. Cell. Mol. Med. 15 691-700 PubMed GONUTS page

[PMID:17332325-2] 2.0 ^2.1 ^2.2 ^2.3 ^2.4 ^2.5 Cheng, GZ et al. (2007) Twist transcriptionally up-regulates AKT2 in breast cancer cells leading to increased migration, invasion, and resistance to paclitaxel. Cancer Res. 67 1979-87 PubMed GONUTS page

[PMID:19274049-3] 3.0 ^3.1 Vaquerizas, JM et al. (2009) A census of human transcription factors: function, expression and evolution. Nat. Rev. Genet. 10 252-63 PubMed GONUTS page

[PMID:25981568-4] Deng, X et al. (2015) Functional Analysis of Two Novel Mutations in TWIST1 Protein Motifs Found in Ventricular Septal Defect Patients. Pediatr Cardiol 36 1602-9 PubMed GONUTS page

[PMID:20804746-5] 5.0 ^5.1 ^5.2 Chakraborty, S et al. (2010) Twist1 promotes heart valve cell proliferation and extracellular matrix gene expression during development in vivo and is expressed in human diseased aortic valves. Dev. Biol. 347 167-79 PubMed GONUTS page

[PMID:17690110-6] 6.0 ^6.1 ^6.2 ^6.3 ^6.4 Kwok, WK et al. (2007) Role of p14ARF in TWIST-mediated senescence in prostate epithelial cells. Carcinogenesis 28 2467-75 PubMed GONUTS page

[PMID:20007935-7] 7.0 ^7.1 ^7.2 ^7.3 Pettersson, AT et al. (2010) A possible inflammatory role of twist1 in human white adipocytes. Diabetes 59 564-71 PubMed GONUTS page

[PMID:12270142-8] 8.0 ^8.1 Yousfi, M et al. (2002) TWIST inactivation reduces CBFA1/RUNX2 expression and DNA binding to the osteocalcin promoter in osteoblasts. Biochem. Biophys. Res. Commun. 297 641-4 PubMed GONUTS page

[PMID:17332324-9] Horikawa, T et al. (2007) Twist and epithelial-mesenchymal transition are induced by the EBV oncoprotein latent membrane protein 1 and are associated with metastatic nasopharyngeal carcinoma. Cancer Res. 67 1970-8 PubMed GONUTS page

[PMID:18297062-10] 10.0 ^10.1 Yang, MH et al. (2008) Direct regulation of TWIST by HIF-1alpha promotes metastasis. Nat. Cell Biol. 10 295-305 PubMed GONUTS page

[PMID:17070479-11] 11.0 ^11.1 Jadico, SK et al. (2006) Ocular phenotype correlations in patients with TWIST versus FGFR3 genetic mutations. J AAPOS 10 435-44 PubMed GONUTS page

[PMID:8988167-12] Ghouzzi, V et al. (1997) Mutations of the TWIST gene in the Saethre-Chotzen syndrome. Nat. Genet. 15 42-6 PubMed GONUTS page

[PMID:8988166-13] Howard, TD et al. (1997) Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. Nat. Genet. 15 36-41 PubMed GONUTS page

[PMID:17987801-14] Niu, RF et al. (2007) Up-regulation of Twist induces angiogenesis and correlates with metastasis in hepatocellular carcinoma. J. Exp. Clin. Cancer Res. 26 385-94 PubMed GONUTS page

[PMID:16888803-15] Komaki, M et al. (2007) Twist negatively regulates osteoblastic differentiation in human periodontal ligament cells. J. Cell. Biochem. 100 303-14 PubMed GONUTS page

[PMID:10749989-16] 16.0 ^16.1 El Ghouzzi, V et al. (2000) Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location. Hum. Mol. Genet. 9 813-9 PubMed GONUTS page

[PMID:19597909-17] Hwang, JY et al. (2010) Association of TWIST1 gene polymorphisms with bone mineral density in postmenopausal women. Osteoporos Int 21 757-64 PubMed GONUTS page

[PMID:17003487-18] 18.0 ^18.1 Guenou, H et al. (2006) Down-regulation of ubiquitin ligase Cbl induced by twist haploinsufficiency in Saethre-Chotzen syndrome results in increased PI3K/Akt signaling and osteoblast proliferation. Am. J. Pathol. 169 1303-11 PubMed GONUTS page

[PMID:15545268-19] 19.0 ^19.1 Stasinopoulos, IA et al. (2005) HOXA5-twist interaction alters p53 homeostasis in breast cancer cells. J. Biol. Chem. 280 2294-9 PubMed GONUTS page

[PMID:11001584-20] 20.0 ^20.1 ^20.2 ^20.3 Villavicencio, EH et al. (2000) The sonic hedgehog-patched-gli pathway in human development and disease. Am. J. Hum. Genet. 67 1047-54 PubMed GONUTS page

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