Entity Details

Primary name TWST1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ15672
EntryNameTWST1_HUMAN
FullNameTwist-related protein 1
TaxID9606
Evidenceevidence at protein level
Length202
SequenceStatuscomplete
DateCreated1997-11-01
DateModified2021-06-02

Ontological Relatives

GenesTWIST1

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000785 chromatin
GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001503 ossification
GO:0001649 osteoblast differentiation
GO:0001701 in utero embryonic development
GO:0001764 neuron migration
GO:0001843 neural tube closure
GO:0003180 aortic valve morphogenesis
GO:0003183 mitral valve morphogenesis
GO:0003203 endocardial cushion morphogenesis
GO:0003253 cardiac neural crest cell migration involved in outflow tract morphogenesis
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007517 muscle organ development
GO:0008134 transcription factor binding
GO:0010628 positive regulation of gene expression
GO:0010718 positive regulation of epithelial to mesenchymal transition
GO:0014067 negative regulation of phosphatidylinositol 3-kinase signaling
GO:0019221 cytokine-mediated signaling pathway
GO:0019904 protein domain specific binding
GO:0030500 regulation of bone mineralization
GO:0032000 positive regulation of fatty acid beta-oxidation
GO:0032502 developmental process
GO:0032720 negative regulation of tumor necrosis factor production
GO:0032755 positive regulation of interleukin-6 production
GO:0032760 positive regulation of tumor necrosis factor production
GO:0033128 negative regulation of histone phosphorylation
GO:0035067 negative regulation of histone acetylation
GO:0035115 embryonic forelimb morphogenesis
GO:0035116 embryonic hindlimb morphogenesis
GO:0035359 negative regulation of peroxisome proliferator activated receptor signaling pathway
GO:0042473 outer ear morphogenesis
GO:0042476 odontogenesis
GO:0042733 embryonic digit morphogenesis
GO:0042803 protein homodimerization activity
GO:0043066 negative regulation of apoptotic process
GO:0043425 bHLH transcription factor binding
GO:0043433 negative regulation of DNA-binding transcription factor activity
GO:0043518 negative regulation of DNA damage response, signal transduction by p53 class mediator
GO:0045668 negative regulation of osteoblast differentiation
GO:0045766 positive regulation of angiogenesis
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0048511 rhythmic process
GO:0048642 negative regulation of skeletal muscle tissue development
GO:0048701 embryonic cranial skeleton morphogenesis
GO:0050679 positive regulation of epithelial cell proliferation
GO:0060021 roof of mouth development
GO:0060363 cranial suture morphogenesis
GO:0060900 embryonic camera-type eye formation
GO:0061029 eyelid development in camera-type eye
GO:0070888 E-box binding
GO:0071363 cellular response to growth factor stimulus
GO:0071456 cellular response to hypoxia
GO:0071639 positive regulation of monocyte chemotactic protein-1 production
GO:2000144 positive regulation of DNA-templated transcription, initiation
GO:2000147 positive regulation of cell motility
GO:2000276 negative regulation of oxidative phosphorylation uncoupler activity
GO:2000679 positive regulation of transcription regulatory region DNA binding
GO:2000773 negative regulation of cellular senescence
GO:2000780 negative regulation of double-strand break repair
GO:2000793 cell proliferation involved in heart valve development
GO:2000802 positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR011598 Myc-type, basic helix-loop-helix (bHLH) domainDomainDomain
IPR015789 Twist-relatedFamilyFamily
IPR036638 Helix-loop-helix DNA-binding domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
123100 OMIMCraniosynostosis 1 (CRS1)A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. The disease is caused by variants affecting the gene represented in this entry.
617746 OMIMSweeney-Cox syndrome (SWCOS)An autosomal dominant syndrome characterized by facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears. The disease is caused by variants affecting the gene represented in this entry.
101400 OMIMSaethre-Chotzen syndrome (SCS)A craniosynostosis syndrome characterized by coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces, and clinodactyly. The disease is caused by variants affecting the gene represented in this entry.
180750 OMIMRobinow-Sorauf syndrome (RSS)An autosomal dominant syndrome characterized by craniosynostosis, asymmetry of orbits, flat face, hypertelorism, a thin, long, and pointed nose, shallow orbits, strabismus, and broad great toes with a duplication of the distal phalanx. RSS is clinically similar to Saethre-Chotzen syndrome, with the most characteristic additional feature in Robinow-Sorauf syndrome being a bifid or partially duplicated hallux. The disease is caused by variants affecting the gene represented in this entry.

Interactions

57 interactions

InteractorPartnerSourcesPublicationsLink
TWST1_HUMANP53_HUMANBioGRID, IntAct18504427 22975381 25402006 details
TWST1_HUMANKAT2B_HUMANBioGRID, HPRD, IntAct10025406 18504427 details
TWST1_HUMANKMT5A_HUMANBioGRID, MINT21983900 details
TWST1_HUMANKAT5_HUMANIntAct24525235 details
TWST1_HUMANSTAT3_HUMANBioGRID, IntAct23623921 25814554 details
TWST1_HUMANITF2_HUMANBioGRID, IntAct, MINT19534813 25402006 25609649 28514442 details
TWST1_HUMANBCL6_HUMANBioGRID, IntAct25402006 details
TWST1_HUMANTYY1_HUMANBioGRID, IntAct25402006 details
TWST1_HUMANNEIL3_HUMANBioGRID, IntAct25402006 details
TWST1_HUMANTYY2_HUMANBioGRID, IntAct25402006 details
TWST1_HUMANZIC3_HUMANBioGRID, IntAct25402006 details
TWST1_HUMANTFE2_HUMANBioGRID, HPRD, IntAct10749989 11248247 20714342 22354994 details
TWST1_HUMANC1QBP_HUMANIntAct19534813 details
TWST1_HUMANARRD3_HUMANIntAct19534813 details
TWST1_HUMANCLUS_HUMANIntAct19534813 details
TWST1_HUMANHD_HUMANIntAct32814053 details
TWST1_HUMANEP300_HUMANBioGRID, HPRD10025406 details
TWST1_HUMANRBBP7_HUMANBioGRID20714342 details
TWST1_HUMANMTA2_HUMANBioGRID20714342 22457607 details
TWST1_HUMANCHD4_HUMANBioGRID20714342 details
TWST1_HUMANHXA5_HUMANBioGRID, HPRD15545268 details
TWST1_HUMANIKKB_HUMANBioGRID23375009 details
TWST1_HUMANIMA6_HUMANBioGRID23375009 details
TWST1_HUMANIMA8_HUMANBioGRID23375009 details
TWST1_HUMANZRAN1_HUMANBioGRID29748601 details
TWST1_HUMANTIF1B_HUMANBioGRID27412325 details
TWST1_HUMANPTEN_HUMANBioGRID30631154 details
TWST1_HUMANTRIB3_HUMANBioGRID31235507 details
TWST1_HUMANUBP18_HUMANBioGRID32368392 details
TWST1_HUMANETS2_HUMANBioGRID, IntAct18598946 details
TWST1_HUMANRBGP1_HUMANIntAct20195357 details
TWST1_HUMANTF65_HUMANBioGRID, HPRD, MINT12553906 21983900 details
TWST1_HUMANTWST1_HUMANHPRD, IntAct24525235 9343420 details
TWST1_HUMANBRD4_HUMANBioGRID, IntAct24525235 31311807 details
TWST1_HUMANNFKB1_HUMANDIP25266422 details
TWST1_HUMANG3BP2_HUMANDIP25893917 details
TWST1_HUMANSOX2_HUMANBioGRID21532573 details
TWST1_HUMANTWST2_HUMANBioGRID20714342 details
TWST1_HUMANESPB1_HUMANBioGRID20714342 details
TWST1_HUMANHDAC2_HUMANBioGRID20714342 22457607 details
TWST1_HUMANHDAC3_HUMANBioGRID21884981 details
TWST1_HUMANWDR5_HUMANBioGRID21884981 details
TWST1_HUMANCHD3_HUMANBioGRID22457607 details
TWST1_HUMANFBW1A_HUMANBioGRID23375009 26905590 28346424 details
TWST1_HUMANPAQR3_HUMANBioGRID26905590 details
TWST1_HUMANSKP2_HUMANBioGRID28346424 details
TWST1_HUMANU17L2_HUMANBioGRID29088851 details
TWST1_HUMANHDAC6_HUMANBioGRID28779345 details
TWST1_HUMANTBG1_HUMANBioGRID28779345 details
TWST1_HUMANVIME_HUMANBioGRID28779345 details
TWST1_HUMANCUL4A_HUMANBioGRID28779345 details
TWST1_HUMANRNF8_HUMANBioGRID29748601 details
TWST1_HUMANHIF1A_HUMANBioGRID23623921 details
TWST1_HUMANRD23A_HUMANBioGRID31487504 details
TWST1_HUMANUBP4_HUMANBioGRID32549341 details
TWST1_HUMANGLI3_HUMANHPRD12142027 details
TWST1_HUMANMYOD1_HUMANHPRD9343420 details