HACE1 Gene Summary [Human]
This gene encodes a HECT domain and ankyrin repeat-containing ubiquitin ligase. The encoded protein is involved in specific tagging of target proteins, leading to their subcellular localization or proteasomal degradation. The protein is a potential tumor suppressor and is involved in the pathophysiology of several tumors, including Wilm's tumor. [provided by RefSeq, Mar 2016]
Details
| Type | Protein Coding |
| Official Symbol | HACE1 |
| Official Name | HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 [Source:HGNC Symbol;Acc:HGNC:21033] |
| Ensembl ID | ENSG00000085382 |
| Bio databases IDs | |
| Aliases | HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 |
| Synonyms | 1700042J16RIK, A730034A22Rik, BC025474, HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1, HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1, SPPRS |
| 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 HACE1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- HECTc
- Ankyrin repeats (many copies)
- ubiquitin-protein transferase activity
- Domain Homologous to E6-AP Carboxyl Terminus with
- Ankyrin repeats (3 copies)
- enzyme binding
- enzyme
- protein binding
- Ankyrin repeat
- ankyrin repeats
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- cancer
- small cell lung cancer
- organismal death
- lung adenocarcinoma
- lung adenocarcinoma formation
- mammary neoplasm
- spastic paraplegia and psychomotor retardation with or without seizures
- lung squamous cell carcinoma
- squamous cell lung cancer
role in cell
- expression in
- phosphorylation in
- activation in
- degradation in
- accumulation in
- migration
- growth
- cell spreading
- polyubiquitination in
- fusion
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Endoplasmic Reticulum
- Golgi membrane
- nuclear bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HACE1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- Rac protein signal transduction
- membrane fusion
- protein K48-linked ubiquitination
- protein polyubiquitination
- Golgi organization
- regulation of cell migration
- ubiquitin-dependent protein catabolic process
- protein ubiquitination
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear body
- cytoplasm
- Golgi cisterna membrane
- Golgi membrane
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- ubiquitin-protein ligase activity
- protein binding
- small GTPase binding