UBA2 Gene Summary [Human]
Posttranslational modification of proteins by the addition of the small protein SUMO (see SUMO1; MIM 601912), or sumoylation, regulates protein structure and intracellular localization. SAE1 (MIM 613294) and UBA2 form a heterodimer that functions as a SUMO-activating enzyme for the sumoylation of proteins (Okuma et al., 1999 [PubMed 9920803]).[supplied by OMIM, Mar 2010]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | UBA2 |
| Official Name | ubiquitin like modifier activating enzyme 2 [Source:HGNC Symbol;Acc:HGNC:30661] |
| Ensembl ID | ENSG00000126261 |
| Bio databases IDs | |
| Aliases | ubiquitin like modifier activating enzyme 2, UBA2, ubiquitin-activating enzyme E1 homolog (yeast) |
| Synonyms | ACCES, ARX, HRIHFB2115, LOC100505842, SAE2, UBA1, ubiquitin-like modifier activating enzyme 2, Ubl1a2, UBLE1B |
| 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 UBA2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ATP binding
- nuclear localization sequence
- enzyme binding
- SUMO activating enzyme
- transcription factor binding
- Ubiquitin/SUMO-activating enzyme ubiquitin-like domain
- enzyme
- protein binding
- magnesium ion binding
- Ubiquitin-activating enzyme, SCCH domain
- E1_enzyme_family
- protein heterodimerization
- SUMO-activating enzyme subunit 2 C-terminus
Pathways
Biological processes and signaling networks where the UBA2 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
- neoplasia
- breast cancer
- glioma
- glioma formation
- aortic valve calcification
- ACCES syndrome
- vasculogenic mimicry
- renal clear cell adenocarcinoma
- renal clear cell cancer
- hereditary disorder
role in cell
- expression in
- apoptosis
- proliferation
- cell cycle progression
- migration
- autophagy in
- dissociation
- invasion by
- sumoylation in
- polyploidy
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
- Nucleus
- nucleoplasm
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human UBA2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein sumoylation
- positive regulation of protein sumoylation
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- SUMO activating enzyme complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- magnesium ion binding
- small protein conjugating enzyme binding
- ATP binding
- SUMO binding
- SUMO activating enzyme activity
- protein binding
- protein heterodimerization activity
- small protein activating enzyme binding
- transferase activity