Aliases for ELP1 Gene
External Ids for ELP1 Gene
Previous HGNC Symbols for ELP1 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 ELP1 Gene
ELP1 (Elongator Complex Protein 1) is a Protein Coding gene. Diseases associated with ELP1 include Neuropathy, Hereditary Sensory And Autonomic, Type Iii and Charcot-Marie-Tooth Disease/Hereditary Motor And Sensory Neuropathy. Among its related pathways are Chromatin organization and Transcription_NF-kB signaling pathway.
UniProtKB/Swiss-Prot Summary for ELP1 Gene
Component of the RNA polymerase II elongator complex, a multiprotein complex associated with the RNA polymerase II (Pol II) holoenzyme, and which is involved in transcriptional elongation (PubMed:11714725, PubMed:11818576). The elongator complex catalyzes formation of carboxymethyluridine in the wobble base at position 34 in tRNAs (PubMed:29332244). 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). May act as a scaffold protein that may assemble active IKK-MAP3K14 complexes (IKKA, IKKB and MAP3K14/NIK) (PubMed:9751059).