ELP3 Gene Summary [Human]
Enables acetyltransferase activity and phosphorylase kinase regulator activity. Involved in regulation of transcription by RNA polymerase II and tRNA wobble uridine modification. Located in cytosol and nucleolus. Part of elongator holoenzyme complex. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | ELP3 |
| Official Name | elongator acetyltransferase complex subunit 3 [Source:HGNC Symbol;Acc:HGNC:20696] |
| Ensembl ID | ENSG00000134014 |
| Bio databases IDs | |
| Aliases | elongator acetyltransferase complex subunit 3 |
| Synonyms | 2610507P14Rik, elongator acetyltransferase complex subunit 3, KAT9 |
| 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 ELP3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- radical SAM enzyme/protein acetyltransferase, ELP3 family
- Radical_SAM
- Radical_SAM C-terminal domain
- Radical SAM superfamily
- phosphorylase kinase regulator
- Acetyltransferase (GNAT) domain
- enzyme
- protein binding
- acetyltransferase
- Elongator protein 3, MiaB family, Radical SAM
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- metabolic syndrome X
- COVID-19
- dextran sodium sulfate-induced colitis
- adenoma formation
- epithelial neoplasia
- benign neoplasia
- familial adenomatous polyposis
- invasive ductal breast cancer
- breast ductal carcinoma in situ
- ductal in situ breast cancer
role in cell
- expression in
- phosphorylation in
- apoptosis
- cell viability
- migration
- morphology
- accumulation in
- scattering
- quantity
- response
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- cytosol
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ELP3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of translation
- neuron migration
- central nervous system development
- tRNA wobble base 5-methoxycarbonylmethyl-2-thiouridine biosynthesis.
- tRNA wobble uridine modification
- regulation of transcription from RNA polymerase II promoter
- positive regulation of cell migration
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- Elongator holoenzyme complex
- cytosol
- nucleolus
Molecular Function
What the gene product does at the molecular level
- phosphorylase kinase regulator activity
- protein binding
- acetyltransferase activity
- metal ion binding
- 4 iron, 4 sulfur cluster binding
- tRNA binding