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

General

DNA-binding protein phosphoprotein transcription factor (TF)

Properties

SIZE: entity length = 215 aa MW = 24 kD COMPARTMENT: cell nucleus MOTIF: histidine-rich region {9-17} MOTIF: histidine residue (SEVERAL) alanine-rich region {64-71} MOTIF: alanine residue (SEVERAL) DNA-binding motif SITE: 94-106 helix-loop-helix NAME: helix-loop-helix SITE: 107-150 FOR-BINDING-VIA: helix-loop-helix MOTIF: Thr phosphorylation site {T107} Ser phosphorylation site {S109}

Database Correlations

OMIM 602406 UniProt O96004 Pfam PF00010 Entrez Gene 9421 Kegg hsa:9421

References

UniProt :accession O96004