Hand1 Gene Summary [Mouse]
Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; bHLH transcription factor binding activity; and protein homodimerization activity. Involved in negative regulation of transcription by RNA polymerase II and positive regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including circulatory system development; negative regulation of DNA-binding transcription factor activity; and trophoblast giant cell differentiation. Located in nucleolus and nucleoplasm. Is expressed in several structures, including alimentary system; early conceptus; heart and pericardium; nervous system; and urinary system. Orthologous to human HAND1 (heart and neural crest derivatives expressed 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Hand1 |
| Official Name | heart and neural crest derivatives expressed 1 [Source:MGI Symbol;Acc:MGI:103577] |
| Ensembl ID | ENSMUSG00000037335 |
| 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 | Mouse, Mus musculus |
| 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 mouse 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 mouse 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
phenotypes
- abnormal amnion morphology
- abnormal cardiac outflow tract development
- abnormal cardiovascular system morphology
- abnormal chorioallantoic fusion
- abnormal chorion morphology
- abnormal craniofacial morphology
- abnormal embryo development
- abnormal embryo implantation
- abnormal embryo turning
- abnormal extraembryonic endoderm formation
- abnormal extraembryonic tissue morphology
- abnormal heart development
- abnormal heart looping
- abnormal heart morphology
- abnormal heart septum morphology
- abnormal interventricular septum morphology
- abnormal limb bud morphology
- abnormal mesoderm development
- abnormal metencephalon morphology
- abnormal myocardial trabeculae morphology
- abnormal neural tube morphology
- abnormal parietal yolk sac morphology
- abnormal pharyngeal arch development
- abnormal placenta development
- abnormal placenta labyrinth morphology
- abnormal placenta morphology
- abnormal rostral-caudal axis patterning
- abnormal somite development
- abnormal spongiotrophoblast cell morphology
- abnormal telencephalon development
- abnormal trophoblast giant cell morphology
- abnormal visceral yolk sac morphology
- abnormal vitelline vascular remodeling
- absent vitelline blood vessels
- decreased body length
- decreased cell proliferation
- decreased embryo size
- decreased spongiotrophoblast cell number
- decreased trophoblast giant cell number
- dilated heart
- embryonic growth arrest
- embryonic growth retardation
- embryonic lethality between implantation and somite formation complete penetrance
- embryonic lethality during organogenesis complete penetrance
- embryonic lethality during organogenesis incomplete penetrance
- embryonic lethality complete penetrance
- enlarged allantois
- enlarged heart
- excessive folding of visceral yolk sac
- failure of heart looping
- hemopericardium
- impaired placental function
- lethality incomplete penetrance
- no abnormal phenotype detected
- pale yolk sac
- small ectoplacental cone
- thin ventricular wall
- ventricular hypoplasia
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 mouse 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