|Other Names||Heart- and neural crest derivatives-expressed protein 1, Class A basic helix-loop-helix protein 27, bHLHa27, Extraembryonic tissues, heart, autonomic nervous system and neural crest derivatives-expressed protein 1, eHAND, HAND1, BHLHA27, EHAND|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Transcription factor that plays an essential role in both trophoblast-giant cells differentiation and in cardiac morphogenesis. In the adult, could be required for ongoing expression of cardiac-specific genes. Binds the DNA sequence 5'- NRTCTG-3' (non-canonical E-box) (By similarity).|
|Cellular Location||Nucleus, nucleoplasm. Nucleus, nucleolus. Note=Interaction with MDFIC sequesters it into the nucleolus, preventing the transcription factor activity Phosphorylation by PLK4 disrupts the interaction with MDFIC and releases it from the nucleolus, leading to transcription factor activity (By similarity).|
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The protein encoded by this gene belongs to the basichelix-loop-helix family of transcription factors. This gene productis one of two closely related family members, the HAND proteins,which are asymmetrically expressed in the developing ventricularchambers and play an essential role in cardiac morphogenesis.Working in a complementary fashion, they function in the formationof the right ventricle and aortic arch arteries, implicating themas mediators of congenital heart disease. In addition, it has beensuggested that this transcription factor may be required for earlytrophoblast differentiation.
Reamon-Buettner, S.M., et al. Hum. Mol. Genet. 18(19):3567-3578(2009)Martinez Hoyos, J., et al. Oncogene 28(6):876-885(2009)Reamon-Buettner, S.M., et al. Hum. Mol. Genet. 17(10):1397-1405(2008)Morin, S., et al. J. Biol. Chem. 280(37):32272-32278(2005)Hill, A.A., et al. Mol. Cell. Biol. 24(22):9835-9847(2004)
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