HAND1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | HAND1 |
| Official Name | heart and neural crest derivatives expressed 1 [Source:HGNC Symbol;Acc:HGNC:4807] |
| Ensembl ID | ENSG00000113196 |
| Bio databases IDs | |
| Aliases | heart and neural crest derivatives expressed 1 |
| Synonyms | bHLHa27, eHAND, Ehand1, heart and neural crest derivatives expressed 1, Hxt, Th1, Thing1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HAND1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- transcription regulator
- nucleic acid binding
- basic Helix Loop Helix (bHLH) domain superfamily
- enzyme binding
- transcription factor binding
- protein binding
- sequence-specific DNA binding
- identical protein binding
- DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- double-stranded DNA binding
- helix loop helix domain
- protein homodimerization
- helix-loop-helix domain
- Helix-loop-helix DNA-binding domain
Pathways
Biological processes and signaling networks where the HAND1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- papillary thyroid carcinoma
- papillary thyroid cancer
- pancreatic cancer
- ductal breast carcinoma
- ductal breast cancer
- heart failure
- colon carcinoma
- colon epithelial cancer
- anaplastic thyroid carcinoma
- anaplastic thyroid cancer
role in cell
- number
- proliferation
- differentiation
- expression in
- growth
- production in
- oxidation in
- recruitment
- abnormal morphology
- development
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- cellular membrane
- nucleoplasm
- nucleoli
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HAND1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- mesenchyme development
- ventricular cardiac muscle tissue morphogenesis
- cartilage morphogenesis
- odontogenesis of dentin-containing tooth
- negative regulation of sequence-specific DNA binding transcription factor activity
- embryonic heart tube development
- cardiac septum morphogenesis
- embryonic heart tube formation
- positive regulation of transcription from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
- negative regulation of transcription from RNA polymerase II promoter
- heart development
- negative regulation of transcription, DNA-dependent
- cardiac left ventricle formation
- angiogenesis
- cardiac right ventricle formation
- trophoblast giant cell differentiation
- blastocyst development
- heart looping
- mesoderm formation
- trophectodermal cell differentiation
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- nucleolus
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein homodimerization activity
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- transcription regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- bHLH transcription factor binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity
- transcription cofactor binding
- protein binding
- enzyme binding