UBA1 Gene Summary [Human]
The protein encoded by this gene catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation. This gene complements an X-linked mouse temperature-sensitive defect in DNA synthesis, and thus may function in DNA repair. It is part of a gene cluster on chromosome Xp11.23. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | UBA1 |
| Official Name | ubiquitin like modifier activating enzyme 1 [Source:HGNC Symbol;Acc:HGNC:12469] |
| Ensembl ID | ENSG00000130985 |
| Bio databases IDs | |
| Aliases | ubiquitin like modifier activating enzyme 1, UBA1, ubiquitin-activating enzyme E1 homolog (yeast), POC20 centriolar protein homolog (Chlamydomonas) |
| 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 | 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 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 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
- 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 human 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