HEG1 Gene Summary [Human]
Predicted to enable calcium ion binding activity. Involved in several processes, including negative regulation of Rho protein signal transduction; negative regulation of Rho-dependent protein serine/threonine kinase activity; and negative regulation of membrane permeability. Located in cell-cell junction. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | HEG1 |
| Official Name | heart development protein with EGF like domains 1 [Source:HGNC Symbol;Acc:HGNC:29227] |
| Ensembl ID | ENSG00000173706 |
| Bio databases IDs | |
| Aliases | heart development protein with EGF like domains 1, heart of glass |
| Synonyms | 4632417D23, 4632417D23Rik, 5530401I02RIK, 9530025L16Rik, BC038614, Gm629, heart development protein with EGF-like domains 1, HEG, KIAA1237, MST112, MSTP112, RGD1564641 |
| 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 HEG1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- EB module
- Family of unknown function (DUF5585)
- EGF domain
- protein binding
- cytosolic tail domain
- Tenascin EGF domain
- MSP1 EGF domain 1
- EGF_CA
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- endometriosis
regulates
- FGF
role in cell
- organization
- development
- cell-cell contact
- morphogenesis
- oxaliplatin resistance
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cell surface
- intercellular junctions
- plasma membrane extracellular face
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HEG1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- multicellular organism growth
- negative regulation of Rho protein signal transduction
- ventricular septum development
- post-embryonic development
- venous blood vessel morphogenesis
- vasculogenesis
- ventricular trabecula myocardium morphogenesis
- positive regulation of fibroblast growth factor production
- cell-cell junction organization
- pericardium development
- heart development
- lymph circulation
- endothelial cell morphogenesis
- in utero embryonic development
- cardiac atrium morphogenesis
- lymph vessel development
- negative regulation of Rho-dependent protein serine/threonine kinase activity
- regulation of body fluid levels
- cardiac muscle tissue growth
- lung development
Cellular Component
Where in the cell the gene product is active
- cell-cell junction
- external side of plasma membrane
- extracellular region
Molecular Function
What the gene product does at the molecular level
- protein binding
- calcium ion binding