UBA5 Gene Summary [Human]
This gene encodes a member of the E1-like ubiquitin-activating enzyme family. This protein activates ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein, via the formation of a high-energy thioester bond. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been identified on chromosome 1. [provided by RefSeq, Feb 2016]
Details
| Type | Protein Coding |
| Official Symbol | UBA5 |
| Official Name | ubiquitin like modifier activating enzyme 5 [Source:HGNC Symbol;Acc:HGNC:23230] |
| Ensembl ID | ENSG00000081307 |
| Bio databases IDs | |
| Aliases | ubiquitin like modifier activating enzyme 5, UBA5, ubiquitin-activating enzyme E1 homolog (yeast) |
| Synonyms | 5730525G14RIK, DEE44, DKFZP434C2415, EIEE44, LOC100129437, SCAR24, THIFP1, UBE1DC1, ubiquitin-like modifier activating enzyme 5 |
| 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 UBA5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- zinc ion binding
- ThiF family
- protein homodimerization
- small protein activating enzyme
- enzyme
- protein binding
- E1_enzyme_family
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- early infantile epileptic encephalopathy type 44
- Ohtahara syndrome
- autosomal recessive spinocerebellar ataxia type 24
- hereditary disorder
role in cell
- expression in
- activation in
- cell viability
- differentiation
- conjugation in
- amplification in
- amplification
- developmental process
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
- intracellular membrane-bounded organelle
- cytosol
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human UBA5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- megakaryocyte differentiation
- erythrocyte differentiation
- neuromuscular process
- regulation of intracellular estrogen receptor signaling pathway
- response to endoplasmic reticulum stress
- protein ufmylation
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- nucleus
- cytoplasm
- intracellular membrane-bounded organelle
- cytosol
- Golgi apparatus
Molecular Function
What the gene product does at the molecular level
- ATP binding
- zinc ion binding
- protein homodimerization activity
- protein binding
- UFM1 activating enzyme activity