Twist-related protein 1

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functionⁱ

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functionⁱ

• bHLH transcription factor binding Source: UniProtKB <p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#ipi">GO evidence code guide</a></p> Inferred from physical interactionⁱ
  • Ref.8

    "Tcf15 primes pluripotent cells for differentiation."
    Davies O.R., Lin C.Y., Radzisheuskaya A., Zhou X., Taube J., Blin G., Waterhouse A., Smith A.J., Lowell S.
    Cell Rep. 3:472-484(2013) [PubMed] [Europe PMC] [Abstract]

    Cited for: INTERACTION WITH TCF3.
• DNA-binding transcription activator activity, RNA polymerase II-specific Source: BHF-UCL <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#tas">GO evidence code guide</a></p> Traceable author statementⁱ
  • "The sonic hedgehog-patched-gli pathway in human development and disease."
    Villavicencio E.H., Walterhouse D.O., Iannaccone P.M.
    Am J Hum Genet 67:1047-1054(2000) [PubMed] [Europe PMC] [Abstract]
• DNA-binding transcription factor activity Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ
  • Ref.7

    "Mechanism of transcriptional activation by the proto-oncogene Twist1."
    Laursen K.B., Mielke E., Iannaccone P., Fuchtbauer E.M.
    J. Biol. Chem. 282:34623-34633(2007) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, SUBUNIT, MUTAGENESIS OF CYS-179; GLU-185; ARG-186; LEU-187; SER-188; PHE-191; SER-192 AND ARG-195.
• DNA-binding transcription factor activity, RNA polymerase II-specific Source: MGI
• E-box binding Source: UniProtKBInferred from direct assayⁱ
  • Ref.6

    "Twist1 dimer selection regulates cranial suture patterning and fusion."
    Connerney J., Andreeva V., Leshem Y., Muentener C., Mercado M.A., Spicer D.B.
    Dev. Dyn. 235:1345-1357(2006) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, SUBUNIT.
• identical protein binding Source: MGIInferred from physical interactionⁱ
  • Ref.6

    "Twist1 dimer selection regulates cranial suture patterning and fusion."
    Connerney J., Andreeva V., Leshem Y., Muentener C., Mercado M.A., Spicer D.B.
    Dev. Dyn. 235:1345-1357(2006) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, SUBUNIT.
• protein domain specific binding Source: MGIInferred from physical interactionⁱ
  • "A twist code determines the onset of osteoblast differentiation."
    Bialek P., Kern B., Yang X., Schrock M., Sosic D., Hong N., Wu H., Yu K., Ornitz D.M., Olson E.N., Justice M.J., Karsenty G.
    Dev Cell 6:423-435(2004) [PubMed] [Europe PMC] [Abstract]
• protein homodimerization activity Source: UniProtKBInferred from direct assayⁱ
  • Ref.6

    "Twist1 dimer selection regulates cranial suture patterning and fusion."
    Connerney J., Andreeva V., Leshem Y., Muentener C., Mercado M.A., Spicer D.B.
    Dev. Dyn. 235:1345-1357(2006) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, SUBUNIT.
• RNA polymerase II transcription regulatory region sequence-specific DNA binding Source: GO_Central <p>Inferred from Biological aspect of Ancestor</p> <p>A type of phylogenetic evidence whereby an aspect of a descendent is inferred through the characterization of an aspect of a ancestral gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#iba">GO evidence code guide</a></p> Inferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• transcription factor binding Source: BHF-UCLInferred from physical interactionⁱ
  • "Twist-1 is a PPARdelta-inducible, negative-feedback regulator of PGC-1alpha in brown fat metabolism."
    Pan D., Fujimoto M., Lopes A., Wang Y.X.
    Cell 137:73-86(2009) [PubMed] [Europe PMC] [Abstract]

GO - Biological processⁱ

• aortic valve morphogenesis Source: BHF-UCL <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ
  • "Twist1 promotes heart valve cell proliferation and extracellular matrix gene expression during development in vivo and is expressed in human diseased aortic valves."
    Chakraborty S., Wirrig E.E., Hinton R.B., Merrill W.H., Spicer D.B., Yutzey K.E.
    Dev Biol 347:167-179(2010) [PubMed] [Europe PMC] [Abstract]
• cardiac neural crest cell development involved in outflow tract morphogenesis Source: MGIInferred from mutant phenotypeⁱ
  • "An absence of Twist1 results in aberrant cardiac neural crest morphogenesis."
    Vincentz J.W., Barnes R.M., Rodgers R., Firulli B.A., Conway S.J., Firulli A.B.
    Dev Biol 320:131-139(2008) [PubMed] [Europe PMC] [Abstract]
• cardiac neural crest cell migration involved in outflow tract morphogenesis Source: MGIInferred from mutant phenotypeⁱ
  • "An absence of Twist1 results in aberrant cardiac neural crest morphogenesis."
    Vincentz J.W., Barnes R.M., Rodgers R., Firulli B.A., Conway S.J., Firulli A.B.
    Dev Biol 320:131-139(2008) [PubMed] [Europe PMC] [Abstract]
• cell differentiation Source: MGIInferred from mutant phenotypeⁱ
  • "Twist plays an essential role in FGF and SHH signal transduction during mouse limb development."
    O'Rourke M.P., Soo K., Behringer R.R., Hui C.C., Tam P.P.
    Dev Biol 248:143-156(2002) [PubMed] [Europe PMC] [Abstract]
• cell proliferation involved in heart valve development Source: BHF-UCLInferred from mutant phenotypeⁱ
  • "Twist1 promotes heart valve cell proliferation and extracellular matrix gene expression during development in vivo and is expressed in human diseased aortic valves."
    Chakraborty S., Wirrig E.E., Hinton R.B., Merrill W.H., Spicer D.B., Yutzey K.E.
    Dev Biol 347:167-179(2010) [PubMed] [Europe PMC] [Abstract]
• cellular response to growth factor stimulus Source: Ensembl
• cellular response to hypoxia Source: BHF-UCLInferred from mutant phenotypeⁱ
  • "Direct regulation of TWIST by HIF-1alpha promotes metastasis."
    Yang M.H., Wu M.Z., Chiou S.H., Chen P.M., Chang S.Y., Liu C.J., Teng S.C., Wu K.J.
    Nat Cell Biol 10:295-305(2008) [PubMed] [Europe PMC] [Abstract]
• cranial suture morphogenesis Source: UniProtKBInferred from mutant phenotypeⁱ
  • Ref.6

    "Twist1 dimer selection regulates cranial suture patterning and fusion."
    Connerney J., Andreeva V., Leshem Y., Muentener C., Mercado M.A., Spicer D.B.
    Dev. Dyn. 235:1345-1357(2006) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, SUBUNIT.
• developmental process Source: GO_CentralInferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• embryonic camera-type eye formation Source: MGI
• embryonic cranial skeleton morphogenesis Source: BHF-UCLInferred from mutant phenotypeⁱ
  • "Mutations of the TWIST gene in the Saethre-Chotzen syndrome."
    el Ghouzzi V., le Merrer M., Perrin-Schmitt F., Lajeunie E., Benit P., Renier D., Bourgeois P., Bolcato-Bellemin A.-L., Munnich A., Bonaventure J.
    Nat. Genet. 15:42-46(1997) [PubMed] [Europe PMC] [Abstract]
• embryonic digit morphogenesis Source: MGIInferred from mutant phenotypeⁱ
  • "A twist code determines the onset of osteoblast differentiation."
    Bialek P., Kern B., Yang X., Schrock M., Sosic D., Hong N., Wu H., Yu K., Ornitz D.M., Olson E.N., Justice M.J., Karsenty G.
    Dev Cell 6:423-435(2004) [PubMed] [Europe PMC] [Abstract]
• embryonic forelimb morphogenesis Source: MGIInferred from mutant phenotypeⁱ
  • "Mouse Twist is required for fibroblast growth factor-mediated epithelial-mesenchymal signalling and cell survival during limb morphogenesis."
    Zuniga A., Quillet R., Perrin-Schmitt F., Zeller R.
    Mech Dev 114:51-59(2002) [PubMed] [Europe PMC] [Abstract]
• embryonic hindlimb morphogenesis Source: BHF-UCLInferred from mutant phenotypeⁱ
  • "Mutations of the TWIST gene in the Saethre-Chotzen syndrome."
    el Ghouzzi V., le Merrer M., Perrin-Schmitt F., Lajeunie E., Benit P., Renier D., Bourgeois P., Bolcato-Bellemin A.-L., Munnich A., Bonaventure J.
    Nat. Genet. 15:42-46(1997) [PubMed] [Europe PMC] [Abstract]
• embryonic limb morphogenesis Source: MGIInferred from mutant phenotypeⁱ
  • "Mutations of the mouse Twist and sy (fibrillin 2) genes induced by chemical mutagenesis of ES cells."
    Browning V.L., Chaudhry S.S., Planchart A., Dixon M.J., Schimenti J.C.
    Genomics 73:291-298(2001) [PubMed] [Europe PMC] [Abstract]
  • "Twist plays an essential role in FGF and SHH signal transduction during mouse limb development."
    O'Rourke M.P., Soo K., Behringer R.R., Hui C.C., Tam P.P.
    Dev Biol 248:143-156(2002) [PubMed] [Europe PMC] [Abstract]
  • "A twist code determines the onset of osteoblast differentiation."
    Bialek P., Kern B., Yang X., Schrock M., Sosic D., Hong N., Wu H., Yu K., Ornitz D.M., Olson E.N., Justice M.J., Karsenty G.
    Dev Cell 6:423-435(2004) [PubMed] [Europe PMC] [Abstract]
• embryonic skeletal system morphogenesis Source: MGIInferred from mutant phenotypeⁱ
  • "A twist code determines the onset of osteoblast differentiation."
    Bialek P., Kern B., Yang X., Schrock M., Sosic D., Hong N., Wu H., Yu K., Ornitz D.M., Olson E.N., Justice M.J., Karsenty G.
    Dev Cell 6:423-435(2004) [PubMed] [Europe PMC] [Abstract]
• endocardial cushion morphogenesis Source: MGIInferred from mutant phenotypeⁱ
  • "An absence of Twist1 results in aberrant cardiac neural crest morphogenesis."
    Vincentz J.W., Barnes R.M., Rodgers R., Firulli B.A., Conway S.J., Firulli A.B.
    Dev Biol 320:131-139(2008) [PubMed] [Europe PMC] [Abstract]
• eyelid development in camera-type eye Source: MGI
• hindlimb morphogenesis Source: MGIInferred from mutant phenotypeⁱ
  • "Mouse mutants from chemically mutagenized embryonic stem cells."
    Munroe R.J., Bergstrom R.A., Zheng Q.Y., Libby B., Smith R., John S.W., Schimenti K.J., Browning V.L., Schimenti J.C.
    Nat Genet 24:318-321(2000) [PubMed] [Europe PMC] [Abstract]
• in utero embryonic development Source: MGIInferred from mutant phenotypeⁱ
  • "A twist code determines the onset of osteoblast differentiation."
    Bialek P., Kern B., Yang X., Schrock M., Sosic D., Hong N., Wu H., Yu K., Ornitz D.M., Olson E.N., Justice M.J., Karsenty G.
    Dev Cell 6:423-435(2004) [PubMed] [Europe PMC] [Abstract]
• mitral valve morphogenesis Source: BHF-UCLInferred from mutant phenotypeⁱ
  • "Twist1 promotes heart valve cell proliferation and extracellular matrix gene expression during development in vivo and is expressed in human diseased aortic valves."
    Chakraborty S., Wirrig E.E., Hinton R.B., Merrill W.H., Spicer D.B., Yutzey K.E.
    Dev Biol 347:167-179(2010) [PubMed] [Europe PMC] [Abstract]
• muscle organ development Source: UniProtKB-KW
• negative regulation of apoptotic process Source: MGIInferred from mutant phenotypeⁱ
  • "Mouse Twist is required for fibroblast growth factor-mediated epithelial-mesenchymal signalling and cell survival during limb morphogenesis."
    Zuniga A., Quillet R., Perrin-Schmitt F., Zeller R.
    Mech Dev 114:51-59(2002) [PubMed] [Europe PMC] [Abstract]
• negative regulation of cell differentiation Source: UniProtKBInferred from direct assayⁱ
  • "Expression of a twist-related gene, Bbtwist, during the development of a lancelet species and its relation to cephalochordate anterior structures."
    Yasui K., Zhang S.-C., Uemura M., Aizawa S., Ueki T.
    Dev. Biol. 195:49-59(1998) [PubMed] [Europe PMC] [Abstract]
• negative regulation of cellular senescence Source: MGI
• negative regulation of DNA-binding transcription factor activity Source: BHF-UCLInferred from direct assayⁱ
  • "Twist-1 is a PPARdelta-inducible, negative-feedback regulator of PGC-1alpha in brown fat metabolism."
    Pan D., Fujimoto M., Lopes A., Wang Y.X.
    Cell 137:73-86(2009) [PubMed] [Europe PMC] [Abstract]
• negative regulation of DNA damage response, signal transduction by p53 class mediator Source: MGI
• negative regulation of double-strand break repair Source: MGI
• negative regulation of histone acetylation Source: BHF-UCLInferred from direct assayⁱ
  • "Twist-1 is a PPARdelta-inducible, negative-feedback regulator of PGC-1alpha in brown fat metabolism."
    Pan D., Fujimoto M., Lopes A., Wang Y.X.
    Cell 137:73-86(2009) [PubMed] [Europe PMC] [Abstract]
• negative regulation of histone phosphorylation Source: MGI
• negative regulation of molecular function Source: MGIInferred from direct assayⁱ
  • "A twist code determines the onset of osteoblast differentiation."
    Bialek P., Kern B., Yang X., Schrock M., Sosic D., Hong N., Wu H., Yu K., Ornitz D.M., Olson E.N., Justice M.J., Karsenty G.
    Dev Cell 6:423-435(2004) [PubMed] [Europe PMC] [Abstract]
• negative regulation of osteoblast differentiation Source: MGIInferred from direct assayⁱ
  • "A twist code determines the onset of osteoblast differentiation."
    Bialek P., Kern B., Yang X., Schrock M., Sosic D., Hong N., Wu H., Yu K., Ornitz D.M., Olson E.N., Justice M.J., Karsenty G.
    Dev Cell 6:423-435(2004) [PubMed] [Europe PMC] [Abstract]
• negative regulation of oxidative phosphorylation uncoupler activity Source: BHF-UCLInferred from direct assayⁱ
  • "Twist-1 is a PPARdelta-inducible, negative-feedback regulator of PGC-1alpha in brown fat metabolism."
    Pan D., Fujimoto M., Lopes A., Wang Y.X.
    Cell 137:73-86(2009) [PubMed] [Europe PMC] [Abstract]
• negative regulation of peroxisome proliferator activated receptor signaling pathway Source: BHF-UCLInferred from direct assayⁱ
  • "Twist-1 is a PPARdelta-inducible, negative-feedback regulator of PGC-1alpha in brown fat metabolism."
    Pan D., Fujimoto M., Lopes A., Wang Y.X.
    Cell 137:73-86(2009) [PubMed] [Europe PMC] [Abstract]
• negative regulation of phosphatidylinositol 3-kinase signaling Source: MGI
• negative regulation of skeletal muscle tissue development Source: MGIInferred from direct assayⁱ
  • "M-twist expression inhibits mouse embryonic stem cell-derived myogenic differentiation in vitro."
    Rohwedel J., Horak V., Hebrok M., Fuchtbauer E.M., Wobus A.M.
    Exp Cell Res 220:92-100(1995) [PubMed] [Europe PMC] [Abstract]
  • "M-twist is an inhibitor of muscle differentiation."
    Hebrok M., Wertz K., Fuchtbauer E.M.
    Dev Biol 165:537-544(1994) [PubMed] [Europe PMC] [Abstract]
• negative regulation of striated muscle tissue development Source: UniProtKBInferred from direct assayⁱ
  • "Expression of a twist-related gene, Bbtwist, during the development of a lancelet species and its relation to cephalochordate anterior structures."
    Yasui K., Zhang S.-C., Uemura M., Aizawa S., Ueki T.
    Dev. Biol. 195:49-59(1998) [PubMed] [Europe PMC] [Abstract]
• negative regulation of transcription, DNA-templated Source: UniProtKBInferred from direct assayⁱ
  • Ref.5

    "Histone acetyltransferase-dependent chromatin remodeling and the vascular clock."
    Curtis A.M., Seo S.B., Westgate E.J., Rudic R.D., Smyth E.M., Chakravarti D., FitzGerald G.A., McNamara P.
    J. Biol. Chem. 279:7091-7097(2004) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION.
• negative regulation of transcription by RNA polymerase II Source: UniProtKBInferred from direct assayⁱ
  • Ref.6

    "Twist1 dimer selection regulates cranial suture patterning and fusion."
    Connerney J., Andreeva V., Leshem Y., Muentener C., Mercado M.A., Spicer D.B.
    Dev. Dyn. 235:1345-1357(2006) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, SUBUNIT.
• negative regulation of tumor necrosis factor production Source: MGI <p>Inferred from Genetic Interaction</p> <p>Used to describe "traditional" genetic interactions such as suppressors and synthetic lethals as well as other techniques such as functional complementation, rescue experiments, or inferences about a gene drawn from the phenotype of a mutation in a different gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#igi">GO evidence code guide</a></p> Inferred from genetic interactionⁱ
  • "Twist mediates suppression of inflammation by type I IFNs and Axl."
    Sharif M.N., Sosic D., Rothlin C.V., Kelly E., Lemke G., Olson E.N., Ivashkiv L.B.
    J Exp Med 203:1891-1901(2006) [PubMed] [Europe PMC] [Abstract]
• neural tube closure Source: MGIInferred from mutant phenotypeⁱ
  • "twist is required in head mesenchyme for cranial neural tube morphogenesis."
    Chen Z.F., Behringer R.R.
    Genes Dev 9:686-699(1995) [PubMed] [Europe PMC] [Abstract]
• neuron migration Source: MGIInferred from mutant phenotypeⁱ
  • "Twist is required for patterning the cranial nerves and maintaining the viability of mesodermal cells."
    Ota M.S., Loebel D.A., O'Rourke M.P., Wong N., Tsoi B., Tam P.P.
    Dev Dyn 230:216-228(2004) [PubMed] [Europe PMC] [Abstract]
• odontogenesis Source: Ensembl
• ossification Source: MGIInferred from mutant phenotypeⁱ
  • "A twist code determines the onset of osteoblast differentiation."
    Bialek P., Kern B., Yang X., Schrock M., Sosic D., Hong N., Wu H., Yu K., Ornitz D.M., Olson E.N., Justice M.J., Karsenty G.
    Dev Cell 6:423-435(2004) [PubMed] [Europe PMC] [Abstract]
• osteoblast differentiation Source: MGIInferred from mutant phenotypeⁱ
  • "A twist code determines the onset of osteoblast differentiation."
    Bialek P., Kern B., Yang X., Schrock M., Sosic D., Hong N., Wu H., Yu K., Ornitz D.M., Olson E.N., Justice M.J., Karsenty G.
    Dev Cell 6:423-435(2004) [PubMed] [Europe PMC] [Abstract]
• positive regulation of cell motility Source: BHF-UCLInferred from mutant phenotypeⁱ
  • "Twist and epithelial-mesenchymal transition are induced by the EBV oncoprotein latent membrane protein 1 and are associated with metastatic nasopharyngeal carcinoma."
    Horikawa T., Yang J., Kondo S., Yoshizaki T., Joab I., Furukawa M., Pagano J.S.
    Cancer Res 67:1970-1978(2007) [PubMed] [Europe PMC] [Abstract]
• positive regulation of DNA-templated transcription, initiation Source: MGI
• positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation Source: BHF-UCLInferred from direct assayⁱ
  • "Twist1 promotes heart valve cell proliferation and extracellular matrix gene expression during development in vivo and is expressed in human diseased aortic valves."
    Chakraborty S., Wirrig E.E., Hinton R.B., Merrill W.H., Spicer D.B., Yutzey K.E.
    Dev Biol 347:167-179(2010) [PubMed] [Europe PMC] [Abstract]
• positive regulation of epithelial cell proliferation Source: MGI
• positive regulation of epithelial to mesenchymal transition Source: BHF-UCLInferred from mutant phenotypeⁱ
  • "Twist and epithelial-mesenchymal transition are induced by the EBV oncoprotein latent membrane protein 1 and are associated with metastatic nasopharyngeal carcinoma."
    Horikawa T., Yang J., Kondo S., Yoshizaki T., Joab I., Furukawa M., Pagano J.S.
    Cancer Res 67:1970-1978(2007) [PubMed] [Europe PMC] [Abstract]
  • "Direct regulation of TWIST by HIF-1alpha promotes metastasis."
    Yang M.H., Wu M.Z., Chiou S.H., Chen P.M., Chang S.Y., Liu C.J., Teng S.C., Wu K.J.
    Nat Cell Biol 10:295-305(2008) [PubMed] [Europe PMC] [Abstract]
  • "Twist1 promotes heart valve cell proliferation and extracellular matrix gene expression during development in vivo and is expressed in human diseased aortic valves."
    Chakraborty S., Wirrig E.E., Hinton R.B., Merrill W.H., Spicer D.B., Yutzey K.E.
    Dev Biol 347:167-179(2010) [PubMed] [Europe PMC] [Abstract]
• positive regulation of fatty acid beta-oxidation Source: MGI
• positive regulation of gene expression Source: MGI
• positive regulation of interleukin-6 production Source: MGI
• positive regulation of monocyte chemotactic protein-1 production Source: MGI
• positive regulation of transcription by RNA polymerase II Source: UniProtKBInferred from direct assayⁱ
  • Ref.7

    "Mechanism of transcriptional activation by the proto-oncogene Twist1."
    Laursen K.B., Mielke E., Iannaccone P., Fuchtbauer E.M.
    J. Biol. Chem. 282:34623-34633(2007) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, SUBUNIT, MUTAGENESIS OF CYS-179; GLU-185; ARG-186; LEU-187; SER-188; PHE-191; SER-192 AND ARG-195.
• positive regulation of transcription regulatory region DNA binding Source: MGI
• positive regulation of tumor necrosis factor production Source: MGI
• regulation of bone mineralization Source: MGI
• regulation of transcription by RNA polymerase II Source: GO_CentralInferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• rhythmic process Source: UniProtKB-KW
• roof of mouth development Source: Ensembl

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsⁱ

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyⁱ

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationⁱ

• UniProt annotation
• GO - Cellular component

Keywords - Cellular componentⁱ

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechⁱ

Mutagenesis

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingⁱ

Molecule processing

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressionⁱ

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityⁱ

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductionⁱ

Gene expression databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactionⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structureⁱ

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsⁱ

GO - Molecular functionⁱ

• bHLH transcription factor binding Source: UniProtKBInferred from physical interactionⁱ
  • Ref.8

    "Tcf15 primes pluripotent cells for differentiation."
    Davies O.R., Lin C.Y., Radzisheuskaya A., Zhou X., Taube J., Blin G., Waterhouse A., Smith A.J., Lowell S.
    Cell Rep. 3:472-484(2013) [PubMed] [Europe PMC] [Abstract]

    Cited for: INTERACTION WITH TCF3.
• identical protein binding Source: MGIInferred from physical interactionⁱ
  • Ref.6

    "Twist1 dimer selection regulates cranial suture patterning and fusion."
    Connerney J., Andreeva V., Leshem Y., Muentener C., Mercado M.A., Spicer D.B.
    Dev. Dyn. 235:1345-1357(2006) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, SUBUNIT.
• protein domain specific binding Source: MGIInferred from physical interactionⁱ
  • "A twist code determines the onset of osteoblast differentiation."
    Bialek P., Kern B., Yang X., Schrock M., Sosic D., Hong N., Wu H., Yu K., Ornitz D.M., Olson E.N., Justice M.J., Karsenty G.
    Dev Cell 6:423-435(2004) [PubMed] [Europe PMC] [Abstract]
• protein homodimerization activity Source: UniProtKBInferred from direct assayⁱ
  • Ref.6

    "Twist1 dimer selection regulates cranial suture patterning and fusion."
    Connerney J., Andreeva V., Leshem Y., Muentener C., Mercado M.A., Spicer D.B.
    Dev. Dyn. 235:1345-1357(2006) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, SUBUNIT.
• transcription factor binding Source: BHF-UCLInferred from physical interactionⁱ
  • "Twist-1 is a PPARdelta-inducible, negative-feedback regulator of PGC-1alpha in brown fat metabolism."
    Pan D., Fujimoto M., Lopes A., Wang Y.X.
    Cell 137:73-86(2009) [PubMed] [Europe PMC] [Abstract]

Protein-protein interaction databases

Miscellaneous databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structureⁱ

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsⁱ

Domains and Repeats

Region

Compositional bias

Phylogenomic databases

Family and domain databases

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequenceⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusⁱ: Complete.

        10         20         30         40         50
MMQDVSSSPV SPADDSLSNS EEEPDRQQPA SGKRGARKRR SSRRSAGGSA 
        60         70         80         90        100
GPGGATGGGI GGGDEPGSPA QGKRGKKSAG GGGGGGAGGG GGGGGGSSSG 
       110        120        130        140        150
GGSPQSYEEL QTQRVMANVR ERQRTQSLNE AFAALRKIIP TLPSDKLSKI 
       160        170        180        190        200
QTLKLAARYI DFLYQVLQSD ELDSKMASCS YVAHERLSYA FSVWRMEGAW 

SMSASH                                                 

Experimental Info

Sequence databases

Genome annotation databases

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsⁱ

• 90% Identity
• 50% Identity

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesⁱ

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationⁱ

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousⁱ

Keywords - Technical termⁱ

Documents

1. MGD cross-references
   Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot