| Gene Symbol |
HAND1
|
| Entrez Gene |
9421
|
| Alt Symbol |
Hxt, Thing1, bHLHa27, eHand
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
heart and neural crest derivatives expressed 1
|
| Other Description |
class A basic helix-loop-helix protein 27|extraembryonic tissues, heart, autonomic nervous system and neural crest derivatives-expressed protein 1|heart- and neural crest derivatives-expressed protein 1
|
| Swissprots |
O96004
|
| Accessions |
AAD19283 EAW61636 O96004 AF061756 AAD19280 BC021190 AAH21190 EU446688 ABZ92217 XM_005268531 XP_005268588 NM_004821 NP_004812
|
| 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). {ECO:0000250}.
|
| Subcellular Location |
Nucleus, nucleoplasm {ECO:0000250}. Nucleus, nucleolus {ECO:0000250}. 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). {ECO:0000250}.
|
| Tissue Specificity |
Heart.
|
| Top Pathways |
Signaling pathways regulating pluripotency of stem cells
|