HAND1

The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, it has been suggested that this transcription factor may be required for early trophoblast differentiation.

Full Name

heart and neural crest derivatives expressed 1

Function

Transcription factor that plays an essential role in both trophoblast giant cell differentiation and in cardiac morphogenesis (By similarity).

Binds the DNA sequence 5'-NRTCTG-3' (non-canonical E-box) (By similarity).

Acts as a transcriptional repressor of SOX15 (By similarity).

In the adult, could be required for ongoing expression of cardiac-specific genes (PubMed:9931445).

Biological Process

Angiogenesis Source: BHF-UCL
Blastocyst development Source: BHF-UCL
Cardiac left ventricle formation Source: BHF-UCL
Cardiac right ventricle formation Source: BHF-UCL
Cardiac septum morphogenesis Source: BHF-UCL
Cartilage morphogenesis Source: Ensembl
Developmental process Source: GO_Central
Embryonic heart tube development Source: BHF-UCL
Embryonic heart tube formation Source: Ensembl
Heart development Source: BHF-UCL
Heart looping Source: BHF-UCL
Mesenchyme development Source: Ensembl
Mesoderm formation Source: Ensembl
Negative regulation of DNA-binding transcription factor activity Source: BHF-UCL
Negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding Source: BHF-UCL
Negative regulation of transcription, DNA-templated Source: BHF-UCL
Negative regulation of transcription by RNA polymerase II Source: BHF-UCL
Odontogenesis of dentin-containing tooth Source: Ensembl
Positive regulation of transcription by RNA polymerase II Source: BHF-UCL
Regulation of transcription by RNA polymerase II Source: GO_Central
Trophectodermal cell differentiation Source: BHF-UCL
Trophoblast giant cell differentiation Source: UniProtKB
Ventricular cardiac muscle tissue morphogenesis Source: BHF-UCL

Cellular Location

Nucleoplasm; Nucleolus. 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).

PTM

Phosphorylation by PLK4 disrupts the interaction with MDFIC and leads to translocation into the nucleoplasm, allowing dimerization and transcription factor activity.