ELP4 Gene Summary [Human]
This gene encodes a component of the six subunit elongator complex, a histone acetyltransferase complex that associates directly with RNA polymerase II during transcriptional elongation. The human gene can partially complement sensitivity phenotypes of yeast ELP4 deletion mutants. This gene has also been associated with Rolandic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
Details
| Type | Protein Coding |
| Official Symbol | ELP4 |
| Official Name | elongator acetyltransferase complex subunit 4 [Source:HGNC Symbol;Acc:HGNC:1171] |
| Ensembl ID | ENSG00000109911 |
| Bio databases IDs | |
| Aliases | elongator acetyltransferase complex subunit 4 |
| Synonyms | A330107A17Rik, AN, AN2, C11orf19, dJ68P15A.1, elongator acetyltransferase complex subunit 4, hELP4, PAX6NEB, PAXNEB, RGD1566052 |
| 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 ELP4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- PAXNEB protein
- phosphorylase kinase regulator
- enzyme binding
- protein binding
- P-loop containing Nucleoside Triphosphate Hydrolases
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
regulates
- histone H4
- histone H3
- RNA polymerase II
- DNA promoter
- DNA endogenous promoter
regulated by
- methamphetamine
- HNRNPH1
disease
- pervasive developmental disorder
- insomnia
- developmental delay, epilepsy, intellectual disability, and motor dysfunction
- neuroticism
- aniridia type 2
- idiopathic perifoveal telangiectasia
- aniridia
- glaucoma
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
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ELP4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of translation
- tRNA wobble uridine modification
- transcription elongation from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- transcription elongation factor complex
- cytoplasm
- Elongator holoenzyme complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- phosphorylase kinase regulator activity
- protein binding
- RNA polymerase II core binding