Human Gene HAND1 (ENST00000231121.3) from GENCODE V43
Description: Homo sapiens heart and neural crest derivatives expressed 1 (HAND1), mRNA. (from RefSeq NM_004821) RefSeq Summary (NM_004821): 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. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000231121.3 Gencode Gene: ENSG00000113196.3 Transcript (Including UTRs) Position: hg38 chr5:154,474,972-154,478,227 Size: 3,256 Total Exon Count: 2 Strand: - Coding Region Position: hg38 chr5:154,475,806-154,478,008 Size: 2,203 Coding Exon Count: 2
ID:HAND1_HUMAN DESCRIPTION: RecName: Full=Heart- and neural crest derivatives-expressed protein 1; AltName: Full=Class A basic helix-loop-helix protein 27; Short=bHLHa27; AltName: Full=Extraembryonic tissues, heart, autonomic nervous system and neural crest derivatives-expressed protein 1; Short=eHAND; 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). SUBUNIT: Efficient DNA binding requires dimerization with another bHLH protein. Forms homodimers and heterodimers with TCF3 gene products E12 and E47, HAND2 and HEY1, HEY2 and HEYL (hairy-related transcription factors). Interacts with MDFIC (By similarity). SUBCELLULAR LOCATION: Nucleus, nucleoplasm (By similarity). Nucleus, nucleolus (By similarity). 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). TISSUE SPECIFICITY: Heart. PTM: Phosphorylation by PLK4 disrupts the interaction with MDFIC and leads to tranlocation into the nucleoplasm, allowing dimerization and transcription factor activity (By similarity). SIMILARITY: Contains 1 bHLH (basic helix-loop-helix) domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O96004
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
