Endometriosis Knowledgebase

Search Result

Gene id

7291

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

TWIST1 Gene UCSC Ensembl

Aliases

ACS3, BPES2, BPES3, CRS, CRS1, CSO, SCS, TWIST, bHLHa38

Gene name

twist family bHLH transcription factor 1

Alternate names

twist-related protein 1, B-HLH DNA binding protein, H-twist, TWIST homolog of drosophila, class A basic helix-loop-helix protein 38, twist basic helix-loop-helix transcription factor 1, twist homolog 1,

Gene location

7p21.1 (19117671: 19113046) Exons: 4 NC_000007.14

Gene summary(Entrez)

This gene encodes a basic helix-loop-helix (bHLH) transcription factor that plays an important role in embryonic development. The encoded protein forms both homodimers and heterodimers that bind to DNA E box sequences and regulate the transcription of genes involved in cranial suture closure during skull development. This protein may also regulate neural tube closure, limb development and brown fat metabolism. This gene is hypermethylated and overexpressed in multiple human cancers, and the encoded protein promotes tumor cell invasion and metastasis. Mutations in this gene cause Saethre-Chotzen syndrome in human patients, which is characterized by craniosynostosis, ptosis and hypertelorism. [provided by RefSeq, Aug 2017]

OMIM

601622

Protein Summary

Protein general information

Q15672

Name: Twist-related protein 1 (Class A basic helix-loop-helix protein 38) (bHLHa38) (H-twist)

Length: 202 Mass: 20,954

Tissue specificity: Subset of mesodermal cells.

Sequence

MMQDVSSSPVSPADDSLSNSEEEPDRQQPPSGKRGGRKRRSSRRSAGGGAGPGGAAGGGVGGGDEPGSPAQGKRG
KKSAGCGGGGGAGGGGGSSSGGGSPQSYEELQTQRVMANVRERQRTQSLNEAFAALRKIIPTLPSDKLSKIQTLK
LAARYIDFLYQVLQSDELDSKMASCSYVAHERLSYAFSVWRMEGAWSMSASH

Structural information

Protein Domains	bHLH. (108-159)
Interpro:	IPR011598 IPR036638 IPR015789
Prosite:	PS50888
Pfam:	PF00010
CDD:	cd00083
PDB:	2MJV
PDBsum:	2MJV
DIP:	45974
MINT:
STRING:	ENSP00000242261;

Other Databases

GeneCards: TWIST1; Malacards: TWIST1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0000981	RNA polymerase II transcr iption factor activity, s equence-specific DNA bind ing	IDA	molecular_function
GO:0001503	ossification	TAS	biological_process
GO:0001649	osteoblast differentiatio n	IEA	biological_process
GO:0001701	in utero embryonic develo pment	IEA	biological_process
GO:0001764	neuron migration	IEA	biological_process
GO:0001843	neural tube closure	IEA	biological_process
GO:0003180	aortic valve morphogenesi s	IMP	biological_process
GO:0003183	mitral valve morphogenesi s	IEA	biological_process
GO:0003203	endocardial cushion morph ogenesis	IEA	biological_process
GO:0003253	cardiac neural crest cell migration involved in ou tflow tract morphogenesis	IEA	biological_process
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0007517	muscle organ development	IEA	biological_process
GO:0008134	transcription factor bind ing	IPI	molecular_function
GO:0010628	positive regulation of ge ne expression	IMP	biological_process
GO:0010718	positive regulation of ep ithelial to mesenchymal t ransition	IMP	biological_process
GO:0014067	negative regulation of ph osphatidylinositol 3-kina se signaling	IMP	biological_process
GO:0019904	protein domain specific b inding	IEA	molecular_function
GO:0030500	regulation of bone minera lization	IMP	biological_process
GO:0032000	positive regulation of fa tty acid beta-oxidation	IMP	biological_process
GO:0032720	negative regulation of tu mor necrosis factor produ ction	IEA	biological_process
GO:0032760	positive regulation of tu mor necrosis factor produ ction	IMP	biological_process
GO:0033128	negative regulation of hi stone phosphorylation	IMP	biological_process
GO:0035067	negative regulation of hi stone acetylation	IEA	biological_process
GO:0035115	embryonic forelimb morpho genesis	IEA	biological_process
GO:0035116	embryonic hindlimb morpho genesis	IEA	biological_process
GO:0035359	negative regulation of pe roxisome proliferator act ivated receptor signaling pathway	IEA	biological_process
GO:0042473	outer ear morphogenesis	TAS	biological_process
GO:0042476	odontogenesis	IEA	biological_process
GO:0042733	embryonic digit morphogen esis	TAS	biological_process
GO:0042803	protein homodimerization activity	IEA	molecular_function
GO:0043066	negative regulation of ap optotic process	IEA	biological_process
GO:0043425	bHLH transcription factor binding	IPI	molecular_function
GO:0043433	negative regulation of se quence-specific DNA bindi ng transcription factor a ctivity	IEA	biological_process
GO:0043518	negative regulation of DN A damage response, signal transduction by p53 clas s mediator	IMP	biological_process
GO:0045668	negative regulation of os teoblast differentiation	IMP	biological_process
GO:0045766	positive regulation of an giogenesis	NAS	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	ISS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0046982	protein heterodimerizatio n activity	IEA	molecular_function
GO:0048511	rhythmic process	IEA	biological_process
GO:0048642	negative regulation of sk eletal muscle tissue deve lopment	IEA	biological_process
GO:0048701	embryonic cranial skeleto n morphogenesis	IMP	biological_process
GO:0048701	embryonic cranial skeleto n morphogenesis	IMP	biological_process
GO:0050679	positive regulation of ep ithelial cell proliferati on	IEA	biological_process
GO:0060021	palate development	IEA	biological_process
GO:0060363	cranial suture morphogene sis	TAS	biological_process
GO:0060900	embryonic camera-type eye formation	IMP	biological_process
GO:0061029	eyelid development in cam era-type eye	IMP	biological_process
GO:0070888	E-box binding	IDA	molecular_function
GO:0070888	E-box binding	IDA	molecular_function
GO:0071363	cellular response to grow th factor stimulus	IEA	biological_process
GO:0071456	cellular response to hypo xia	IMP	biological_process
GO:0071639	positive regulation of mo nocyte chemotactic protei n-1 production	IMP	biological_process
GO:2000144	positive regulation of DN A-templated transcription , initiation	IDA	biological_process
GO:2000147	positive regulation of ce ll motility	NAS	biological_process
GO:2000147	positive regulation of ce ll motility	IMP	biological_process
GO:2000276	negative regulation of ox idative phosphorylation u ncoupler activity	IEA	biological_process
GO:2000679	positive regulation of tr anscription regulatory re gion DNA binding	IMP	biological_process
GO:2000773	negative regulation of ce llular senescence	IMP	biological_process
GO:2000778	positive regulation of in terleukin-6 secretion	IMP	biological_process
GO:2000780	negative regulation of do uble-strand break repair	IMP	biological_process
GO:2000793	cell proliferation involv ed in heart valve develop ment	IMP	biological_process
GO:2000802	positive regulation of en docardial cushion to mese nchymal transition involv ed in heart valve formati on	IEA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0000981	RNA polymerase II transcr iption factor activity, s equence-specific DNA bind ing	IDA	molecular_function
GO:0001503	ossification	IEA	biological_process
GO:0001503	ossification	TAS	biological_process
GO:0001649	osteoblast differentiatio n	IEA	biological_process
GO:0001701	in utero embryonic develo pment	IEA	biological_process
GO:0001764	neuron migration	IEA	biological_process
GO:0001843	neural tube closure	IEA	biological_process
GO:0003180	aortic valve morphogenesi s	IEA	biological_process
GO:0003180	aortic valve morphogenesi s	IMP	biological_process
GO:0003183	mitral valve morphogenesi s	IEA	biological_process
GO:0003203	endocardial cushion morph ogenesis	IEA	biological_process
GO:0003253	cardiac neural crest cell migration involved in ou tflow tract morphogenesis	IEA	biological_process
GO:0003677	DNA binding	IEA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0007275	multicellular organism de velopment	IEA	biological_process
GO:0007517	muscle organ development	IEA	biological_process
GO:0008134	transcription factor bind ing	IEA	molecular_function
GO:0008134	transcription factor bind ing	IPI	molecular_function
GO:0010628	positive regulation of ge ne expression	IMP	biological_process
GO:0010718	positive regulation of ep ithelial to mesenchymal t ransition	IEA	biological_process
GO:0010718	positive regulation of ep ithelial to mesenchymal t ransition	IMP	biological_process
GO:0014067	negative regulation of ph osphatidylinositol 3-kina se signaling	IMP	biological_process
GO:0019904	protein domain specific b inding	IEA	molecular_function
GO:0030154	cell differentiation	IEA	biological_process
GO:0030154	cell differentiation	IEA	biological_process
GO:0030326	embryonic limb morphogene sis	IEA	biological_process
GO:0030500	regulation of bone minera lization	IMP	biological_process
GO:0032000	positive regulation of fa tty acid beta-oxidation	IMP	biological_process
GO:0032720	negative regulation of tu mor necrosis factor produ ction	IEA	biological_process
GO:0032760	positive regulation of tu mor necrosis factor produ ction	IMP	biological_process
GO:0033128	negative regulation of hi stone phosphorylation	IMP	biological_process
GO:0035067	negative regulation of hi stone acetylation	IEA	biological_process
GO:0035115	embryonic forelimb morpho genesis	IEA	biological_process
GO:0035116	embryonic hindlimb morpho genesis	IEA	biological_process
GO:0035137	hindlimb morphogenesis	IEA	biological_process
GO:0035359	negative regulation of pe roxisome proliferator act ivated receptor signaling pathway	IEA	biological_process
GO:0042473	outer ear morphogenesis	TAS	biological_process
GO:0042476	odontogenesis	IEA	biological_process
GO:0042733	embryonic digit morphogen esis	IEA	biological_process
GO:0042733	embryonic digit morphogen esis	TAS	biological_process
GO:0042803	protein homodimerization activity	IEA	molecular_function
GO:0043066	negative regulation of ap optotic process	IEA	biological_process
GO:0043425	bHLH transcription factor binding	IPI	molecular_function
GO:0043433	negative regulation of se quence-specific DNA bindi ng transcription factor a ctivity	IEA	biological_process
GO:0043518	negative regulation of DN A damage response, signal transduction by p53 clas s mediator	IMP	biological_process
GO:0044092	negative regulation of mo lecular function	IEA	biological_process
GO:0045596	negative regulation of ce ll differentiation	IEA	biological_process
GO:0045668	negative regulation of os teoblast differentiation	IEA	biological_process
GO:0045668	negative regulation of os teoblast differentiation	IMP	biological_process
GO:0045766	positive regulation of an giogenesis	NAS	biological_process
GO:0045843	negative regulation of st riated muscle tissue deve lopment	IEA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IEA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	ISS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0046982	protein heterodimerizatio n activity	IEA	molecular_function
GO:0046983	protein dimerization acti vity	IEA	molecular_function
GO:0048511	rhythmic process	IEA	biological_process
GO:0048642	negative regulation of sk eletal muscle tissue deve lopment	IEA	biological_process
GO:0048701	embryonic cranial skeleto n morphogenesis	IEA	biological_process
GO:0048701	embryonic cranial skeleto n morphogenesis	IMP	biological_process
GO:0048701	embryonic cranial skeleto n morphogenesis	IMP	biological_process
GO:0048704	embryonic skeletal system morphogenesis	IEA	biological_process
GO:0050679	positive regulation of ep ithelial cell proliferati on	IEA	biological_process
GO:0060021	palate development	IEA	biological_process
GO:0060348	bone development	IEA	biological_process
GO:0060363	cranial suture morphogene sis	IEA	biological_process
GO:0060363	cranial suture morphogene sis	TAS	biological_process
GO:0060900	embryonic camera-type eye formation	IMP	biological_process
GO:0061029	eyelid development in cam era-type eye	IMP	biological_process
GO:0061309	cardiac neural crest cell development involved in outflow tract morphogenes is	IEA	biological_process
GO:0070888	E-box binding	IEA	molecular_function
GO:0070888	E-box binding	IDA	molecular_function
GO:0070888	E-box binding	IDA	molecular_function
GO:0071363	cellular response to grow th factor stimulus	IEA	biological_process
GO:0071456	cellular response to hypo xia	IEA	biological_process
GO:0071456	cellular response to hypo xia	IMP	biological_process
GO:0071639	positive regulation of mo nocyte chemotactic protei n-1 production	IMP	biological_process
GO:2000144	positive regulation of DN A-templated transcription , initiation	IDA	biological_process
GO:2000147	positive regulation of ce ll motility	IEA	biological_process
GO:2000147	positive regulation of ce ll motility	NAS	biological_process
GO:2000147	positive regulation of ce ll motility	IMP	biological_process
GO:2000276	negative regulation of ox idative phosphorylation u ncoupler activity	IEA	biological_process
GO:2000679	positive regulation of tr anscription regulatory re gion DNA binding	IMP	biological_process
GO:2000773	negative regulation of ce llular senescence	IMP	biological_process
GO:2000778	positive regulation of in terleukin-6 secretion	IMP	biological_process
GO:2000780	negative regulation of do uble-strand break repair	IMP	biological_process
GO:2000793	cell proliferation involv ed in heart valve develop ment	IEA	biological_process
GO:2000793	cell proliferation involv ed in heart valve develop ment	IMP	biological_process
GO:2000802	positive regulation of en docardial cushion to mese nchymal transition involv ed in heart valve formati on	IEA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0000981	RNA polymerase II transcr iption factor activity, s equence-specific DNA bind ing	IDA	molecular_function
GO:0001503	ossification	TAS	biological_process
GO:0003180	aortic valve morphogenesi s	IMP	biological_process
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0008134	transcription factor bind ing	IPI	molecular_function
GO:0010628	positive regulation of ge ne expression	IMP	biological_process
GO:0010718	positive regulation of ep ithelial to mesenchymal t ransition	IMP	biological_process
GO:0014067	negative regulation of ph osphatidylinositol 3-kina se signaling	IMP	biological_process
GO:0030500	regulation of bone minera lization	IMP	biological_process
GO:0032000	positive regulation of fa tty acid beta-oxidation	IMP	biological_process
GO:0032760	positive regulation of tu mor necrosis factor produ ction	IMP	biological_process
GO:0033128	negative regulation of hi stone phosphorylation	IMP	biological_process
GO:0042473	outer ear morphogenesis	TAS	biological_process
GO:0042733	embryonic digit morphogen esis	TAS	biological_process
GO:0043425	bHLH transcription factor binding	IPI	molecular_function
GO:0043518	negative regulation of DN A damage response, signal transduction by p53 clas s mediator	IMP	biological_process
GO:0045668	negative regulation of os teoblast differentiation	IMP	biological_process
GO:0045766	positive regulation of an giogenesis	NAS	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	ISS	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0048701	embryonic cranial skeleto n morphogenesis	IMP	biological_process
GO:0048701	embryonic cranial skeleto n morphogenesis	IMP	biological_process
GO:0060363	cranial suture morphogene sis	TAS	biological_process
GO:0060900	embryonic camera-type eye formation	IMP	biological_process
GO:0061029	eyelid development in cam era-type eye	IMP	biological_process
GO:0070888	E-box binding	IDA	molecular_function
GO:0070888	E-box binding	IDA	molecular_function
GO:0071456	cellular response to hypo xia	IMP	biological_process
GO:0071639	positive regulation of mo nocyte chemotactic protei n-1 production	IMP	biological_process
GO:2000144	positive regulation of DN A-templated transcription , initiation	IDA	biological_process
GO:2000147	positive regulation of ce ll motility	NAS	biological_process
GO:2000147	positive regulation of ce ll motility	IMP	biological_process
GO:2000679	positive regulation of tr anscription regulatory re gion DNA binding	IMP	biological_process
GO:2000773	negative regulation of ce llular senescence	IMP	biological_process
GO:2000778	positive regulation of in terleukin-6 secretion	IMP	biological_process
GO:2000780	negative regulation of do uble-strand break repair	IMP	biological_process
GO:2000793	cell proliferation involv ed in heart valve develop ment	IMP	biological_process

Diseases

Associated diseases	References
Breast cancer	PMID: 19094228
Cleft lip with cleft palate	PMID: 20634891
Craniosynostosis	PMID: 12218784
Endometriosis	PMID: 27881125
Endometriosis	INFBASE26198055
Non-small cell lung carcinoma	PMID: 18549475
Ovarian cancer	PMID: 20628624

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
26198055	Endometrio sis			121 (47 control s, 74 patients with endometrio sis)		CDH1 TWIST1 SNAIL SLUG MYC	Show abstract
27881125	Endometrio sis			209 (69 endomet riosis patient, 90 endometriot ic tissue, 50 c ontrol endometr ium )		OCT4 SOX15 TWIST1 DCAMLK1	Show abstract