• Gene id: 7291

Gene Summary

• Gene Symbol: TWIST1   Gene   UCSC   Ensembl
• Aliases: ACS3, BPES2, BPES3, CRS, CRS1, CSO, SCS, SWCOS, 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 (19117635: 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 gen
• OMIM: 601622

SNPs

rs700519

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.51215771G>A
NC_000015.9   g.51507968G>A
NG_007982.1   g.127828C>T
NM_000103.4   c.790C>T
NM_000103.3   c.790C>T
NM_031226.3   c.790C>T
NM_031226.2   c.790C>T
NM_001347255.2   c.790C>T
NM_001347255.1   c.790C>T
NM_001347256.2   c.790C>T
NM_001347256.1   c.

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: 20954
  • Tissue specificity: Subset of mesodermal cells.
• Sequence:

  MMQDVSSSPVSPADDSLSNSEEEPDRQQPPSGKRGGRKRRSSRRSAGGGAGPGGAAGGGVGGGDEPGSPAQGKRG
  KKSAGCGGGGGAGGGGGSSSGGGSPQSYEELQTQRVMANVRERQRTQSLNEAFAALRKIIPTLPSDKLSKIQTLK
  LAARYIDFLYQVLQSDELDSKMASCSYVAHERLSYAFSVWRMEGAWSMSASH

• Structural information:
  • Protein Domains: (108..15-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981"-)
  • Interpro: IPR011598  IPR036638  IPR015789  
  • Prosite: PS50888
  • CDD: cd00083
  • PDB: 2MJV
  • PDBsum: 2MJV
  • DIP: 45974
  • STRING: ENSP00000242261
• Other Databases: GeneCards:  TWIST1  Malacards:  TWIST1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:2000144	positive regulation of DNA-templated transcription, initiation	IDA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	ISS	biological process
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0007517	muscle organ development	IEA	biological process
GO:0048511	rhythmic process	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0019221	cytokine-mediated signaling pathway	TAS	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: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:0060348	bone development	IEA	biological process
GO:0060021	roof of mouth development	IEA	biological process
GO:0042476	odontogenesis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:2000802	positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation	IEA	biological process
GO:2000276	negative regulation of oxidative phosphorylation uncoupler activity	IEA	biological process
GO:0070888	E-box binding	IEA	molecular function
GO:0060363	cranial suture morphogenesis	IEA	biological process
GO:0048704	embryonic skeletal system morphogenesis	IEA	biological process
GO:0048642	negative regulation of skeletal muscle tissue development	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045843	negative regulation of striated muscle tissue development	IEA	biological process
GO:0045668	negative regulation of osteoblast differentiation	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0042733	embryonic digit morphogenesis	IEA	biological process
GO:0035359	negative regulation of peroxisome proliferator activated receptor signaling pathway	IEA	biological process
GO:0035116	embryonic hindlimb morphogenesis	IEA	biological process
GO:0035115	embryonic forelimb morphogenesis	IEA	biological process
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0010718	positive regulation of epithelial to mesenchymal transition	IEA	biological process
GO:0008134	transcription factor binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003253	cardiac neural crest cell migration involved in outflow tract morphogenesis	IEA	biological process
GO:0003203	endocardial cushion morphogenesis	IEA	biological process
GO:0003180	aortic valve morphogenesis	IEA	biological process
GO:0001843	neural tube closure	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0071363	cellular response to growth factor stimulus	IEA	biological process
GO:0050679	positive regulation of epithelial cell proliferation	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:2000793	cell proliferation involved in heart valve development	IEA	biological process
GO:2000147	positive regulation of cell motility	IEA	biological process
GO:0071456	cellular response to hypoxia	IEA	biological process
GO:0061309	cardiac neural crest cell development involved in outflow tract morphogenesis	IEA	biological process
GO:0048701	embryonic cranial skeleton morphogenesis	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0045596	negative regulation of cell differentiation	IEA	biological process
GO:0044092	negative regulation of molecular function	IEA	biological process
GO:0043433	negative regulation of DNA-binding transcription factor activity	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0035137	hindlimb morphogenesis	IEA	biological process
GO:0035067	negative regulation of histone acetylation	IEA	biological process
GO:0032720	negative regulation of tumor necrosis factor production	IEA	biological process
GO:0030326	embryonic limb morphogenesis	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0003183	mitral valve morphogenesis	IEA	biological process
GO:0001764	neuron migration	IEA	biological process
GO:0001649	osteoblast differentiation	IEA	biological process
GO:0001503	ossification	IEA	biological process
GO:0043425	bHLH transcription factor binding	IPI	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	molecular function
GO:0070888	E-box binding	IDA	molecular function
GO:0070888	E-box binding	IDA	molecular function
GO:0001503	ossification	TAS	biological process
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0048701	embryonic cranial skeleton morphogenesis	IMP	biological process
GO:0048701	embryonic cranial skeleton morphogenesis	IMP	biological process
GO:0061029	eyelid development in camera-type eye	IMP	biological process
GO:0071456	cellular response to hypoxia	IMP	biological process
GO:2000147	positive regulation of cell motility	NAS	biological process
GO:2000147	positive regulation of cell motility	IMP	biological process
GO:2000679	positive regulation of transcription regulatory region DNA binding	IMP	biological process
GO:2000780	negative regulation of double-strand break repair	IMP	biological process
GO:2000793	cell proliferation involved in heart valve development	IMP	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP	biological process
GO:0003180	aortic valve morphogenesis	IMP	biological process
GO:0010718	positive regulation of epithelial to mesenchymal transition	IMP	biological process
GO:0014067	negative regulation of phosphatidylinositol 3-kinase signaling	IMP	biological process
GO:0030500	regulation of bone mineralization	IMP	biological process
GO:0032000	positive regulation of fatty acid beta-oxidation	IMP	biological process
GO:0032760	positive regulation of tumor necrosis factor production	IMP	biological process
GO:0033128	negative regulation of histone phosphorylation	IMP	biological process
GO:0042473	outer ear morphogenesis	TAS	biological process
GO:0042733	embryonic digit morphogenesis	TAS	biological process
GO:0043518	negative regulation of DNA damage response, signal transduction by p53 class mediator	IMP	biological process
GO:0045668	negative regulation of osteoblast differentiation	IMP	biological process
GO:0045766	positive regulation of angiogenesis	NAS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0060363	cranial suture morphogenesis	TAS	biological process
GO:0060900	embryonic camera-type eye formation	IMP	biological process
GO:0071639	positive regulation of monocyte chemotactic protein-1 production	IMP	biological process
GO:2000773	negative regulation of cellular senescence	IMP	biological process
GO:2000778	positive regulation of interleukin-6 secretion	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0008134	transcription factor binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05205	Proteoglycans in cancer

Diseases

Associated diseases	References
Syndromic craniosynostoses	KEGG:H00458
Craniosynostoses	KEGG:H02160
Saethre-Chotzen syndrome	KEGG:H01991
Syndromic craniosynostoses	KEGG:H00458
Craniosynostoses	KEGG:H02160
Saethre-Chotzen syndrome	KEGG:H01991
Acrocephalosyndactylia	PMID:8988166
Pulmonary fibrosis	PMID:19893041
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881