heart- & neural crest derivatives-expressed protein 1; class A basic helix-loop-helix protein 27; bHLHa27; extraembryonic tissues, heart, autonomic nervous system & neural crest derivatives-expressed protein 1; eHAND (HAND1, BHLHA27, EHAND)

Function

• transcription factor
• role in both trophoblast-giant cells differentiation & 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) (putative)
• phosphorylation by PLK4 disrupts the interaction with MDFIC & leads to tranlocation into the nucleoplasm, allowing dimerization & transcription factor activity (putative)
• efficient DNA binding requires dimerization with another bHLH protein
• forms homodimers & heterodimers with TCF3 gene products E12 & E47, HAND2 & HEY1, HEY2 & HEYL (hairy-related transcription factors)
• interacts with MDFIC (putative)

Structure

• contains 1 basic helix-loop-helix (bHLH) domain

Compartment

• nucleus, nucleoplasm, nucleolus (putative
• interaction with MDFIC sequesters HAND1 into the nucleolus, preventing the transcription factor activity
• phosphorylation by PLK4 disrupts the interaction with MDFIC & releases it from the nucleolus, leading to transcription factor activity (putative)

Expression

heart

More general terms

• transcription factor (TF)
• DNA-binding protein
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=9421
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:9421
• OMIM: https://mirror.omim.org/entry/602406
• UniProt: http://www.uniprot.org/uniprot/O96004.html