Aliases for IKBKAP Gene
- Inhibitor Of Kappa Light Polypeptide Gene Enhancer In B-Cells, Kinase Complex-Associated Protein 2 3 5
- Elongator Acetyltransferase Complex Subunit 1 2 3
- IkappaB Kinase Complex-Associated Protein 3 4
- IKK Complex-Associated Protein 3 4
- ELP1 3 4
- IKAP 3 4
- Dysautonomia (Riley-Day Syndrome, Hereditary Sensory Autonomic Neuropathy Type III) 2
External Ids for IKBKAP Gene
Previous HGNC Symbols for IKBKAP Gene
Previous GeneCards Identifiers for IKBKAP Gene
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]
GeneCards Summary for IKBKAP Gene
IKBKAP (Inhibitor Of Kappa Light Polypeptide Gene Enhancer In B-Cells, Kinase Complex-Associated Protein) is a Protein Coding gene. Diseases associated with IKBKAP include dysautonomia, familial and dysautonomia. Among its related pathways are Chromatin organization and TNF-alpha/NF-kB Signaling Pathway. GO annotations related to this gene include binding and RNA polymerase II core binding.
UniProtKB/Swiss-Prot for IKBKAP Gene
May act as a scaffold protein that may assemble active IKK-MAP3K14 complexes (IKKA, IKKB and MAP3K14/NIK).
Acts as subunit of the RNA polymerase II elongator complex, which is a histone acetyltransferase component of the RNA polymerase II (Pol II) holoenzyme and is involved in transcriptional elongation. Elongator may play a role in chromatin remodeling and is involved in acetylation of histones H3 and probably H4. Involved in cell migration. Involved in neurogenesis (By similarity). Regulates the migration and branching of projection neurons in the developing cerebral cortex, through a process depending on alpha-tubulin acetylation (By similarity).