ELP1 Gene Summary [Human]
The protein encoded by this gene is a scaffold protein and a regulator for three different kinases involved in proinflammatory signaling. The encoded protein can bind NF-kappa-B-inducing kinase and I-kappa-B kinases through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
Details
| Type | Processed Transcript |
| Official Symbol | ELP1 |
| Official Name | elongator acetyltransferase complex subunit 1 [Source:HGNC Symbol;Acc:HGNC:5959] |
| Ensembl ID | ENSG00000070061 |
| Bio databases IDs | |
| Aliases | elongator acetyltransferase complex subunit 1 |
| Synonyms | 3110040G09Rik, 6030413P05, DYS, elongator acetyltransferase complex subunit 1, elongator complex protein 1, FD, IKAP, IKBKAP, IKI3, Ikkap1, LOC102555189, TOT1 |
| 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 ELP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ATP binding
- protein binding
- IKI3 family
Pathways
Biological processes and signaling networks where the ELP1 gene in human plays a role, providing insight into its function and relevance in health or disease.
- 4-1BB Signaling in T Lymphocytes
- Activation of IRF by Cytosolic Pattern Recognition Receptors
- Acute Phase Response Signaling
- Angiopoietin Signaling
- Apoptosis Signaling
- April Mediated Signaling
- B Cell Activating Factor Signaling
- CD27 Signaling in Lymphocytes
- CD40 Signaling
- Death Receptor Signaling
- G-Protein Coupled Receptor Signaling
- Glucocorticoid Receptor Signaling
- Gα12/13 Signaling
- IL-1 Signaling
- IL-10 Signaling
- IL-6 Signaling
- Induction of Apoptosis by HIV1
- LPS-stimulated MAPK Signaling
- Lymphotoxin β Receptor Signaling
- NF-κB Activation by Viruses
- PPAR Signaling
- PPARα/RXRα Activation
- PTEN Signaling
- RANK Signaling in Osteoclasts
- Regulation of IL-2 Expression in Activated and Anergic T Lymphocytes
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- familial dysautonomia
- brain cancer
- central nervous system cancer
- head and neck cancer
- head and neck neoplasia
- pericardial effusion
- medulloblastoma
- pediatric cancer
- growth failure
role in cell
- apoptosis
- cell death
- number
- fragmentation
- fragmentation in
- transmembrane potential
- generation
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
- Nucleus
- cytosol
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ELP1 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 base 5-methoxycarbonylmethyl-2-thiouridine biosynthesis.
- tRNA wobble uridine modification
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- Elongator holoenzyme complex
- cytosol
Molecular Function
What the gene product does at the molecular level
- protein binding
- tRNA binding