Uba1 Gene Summary [Mouse]
This gene encodes a member of the ubiquitin-activating E1 family. The encoded protein initiates the ubiquitin activation and transfer cascade, catalyzing the first step in ubiquitin conjugation to mark cellular proteins for proteasome degradation. Ubiquitin activating enzymes use ATP to form a thioester between a conserved catalytic cysteine of the enzyme and the C-terminal carboxylate of ubiquitin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
Details
| Type | Protein Coding |
| Official Symbol | Uba1 |
| Official Name | ubiquitin-like modifier activating enzyme 1 [Source:MGI Symbol;Acc:MGI:98890] |
| Ensembl ID | ENSMUSG00000001924 |
| Bio databases IDs | |
| Aliases | ubiquitin-like modifier activating enzyme 1 |
| Synonyms | A1S9, A1S9T, A1ST, AMCX1, CFAP124, E1, GXP1, POC20, Sbx, SMAX2, UBA1A, UBE1, UBE1X, ubiquitin activating enzyme E1, ubiquitin-like modifier activating enzyme 1, VEXAS |
| 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 Uba1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Ubiquitin-activating enzyme E1 FCCH domain
- Ubiquitin-activating enzyme E1 four-helix bundle
- ubiquitin activating enzyme
- enzyme
- protein binding
- ubiquitin-activating enzyme E1
- Ubiquitin-activating enzyme, SCCH domain
- E1_enzyme_family
- Ubiquitin fold domain
Pathways
Biological processes and signaling networks where the Uba1 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
- gastric cancer
- VEXAS syndrome
- neoplasia
- spinal muscular atrophy, infantile X-linked
- Klinefelter syndrome
- myelodysplastic syndrome
- non-small cell lung cancer
- hereditary disorder
- colon carcinoma
- colon epithelial cancer
role in cell
- activation in
- expression in
- degradation in
- cell death
- apoptosis
- proliferation
- growth
- survival
- downregulation in
- morphology
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
- myelin enriched fraction
- detergent resistant lipid raft fraction
- heterochromatin
- Nucleus
- Mitochondria
- desmosomes
- cytosol
- lysosome membrane
- endosomal membrane
- chromosome
- nucleoplasm
- rough endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Uba1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to DNA damage stimulus
- protein ubiquitination
- ubiquitin-dependent protein catabolic process
Cellular Component
Where in the cell the gene product is active
- heterochromatin
- nucleus
- extracellular vesicular exosome
- rough endoplasmic reticulum membrane
- cytoplasm
- mitochondrion
- cytosol
- desmosome
- endosome membrane
- lysosomal membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ATP binding
- RNA binding
- protein binding
- ubiquitin activating enzyme activity