Gene Symbol |
Hand1
|
Entrez Gene |
15110
|
Alt Symbol |
Ehand1, Hxt, Th1, Thing1, bHLHa27, eHAND
|
Species |
Mouse
|
Gene Type |
protein-coding
|
Description |
heart and neural crest derivatives expressed transcript 1
|
Other Description |
extraembryonic tissues, heart, autonomic nervous system and neural crest derivatives-expressed protein 1|heart- and neural crest derivatives-expressed protein 1|helix-loop-helix transcription factor expressed in extraembryonic mesoderm and trophoblast|thing-1
|
Swissprots |
Q61099 Q64279
|
Accessions |
EDL07780 Q64279 AK146084 BAE26888 BC050182 AAH50182 S79216 AAB35104 U21226 AAA86887 U43714 AAA86273 NM_008213 NP_032239
|
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). {ECO:0000269|PubMed:9500551}.
|
Subcellular Location |
Nucleus, nucleoplasm {ECO:0000269|PubMed:17891141}. Nucleus, nucleolus {ECO:0000269|PubMed:17891141}. 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.
|
Tissue Specificity |
Smooth muscle cells of the gut and adrenal tissue.
|
Top Pathways |
Signaling pathways regulating pluripotency of stem cells
|