Aliases for ELP3 Gene
External Ids for ELP3 Gene
Previous GeneCards Identifiers for ELP3 Gene
ELP3 is the catalytic subunit of the histone acetyltransferase elongator complex, which contributes to transcript elongation and also regulates the maturation of projection neurons (Creppe et al., 2009 [PubMed 19185337]).[supplied by OMIM, Apr 2009]
GeneCards Summary for ELP3 Gene
ELP3 (Elongator Acetyltransferase Complex Subunit 3) is a Protein Coding gene. Diseases associated with ELP3 include Neuropathy, Hereditary Sensory And Autonomic, Type Iii and Hereditary Sensory Neuropathy. Among its related pathways are Chromatin organization and Chromatin Regulation / Acetylation. Gene Ontology (GO) annotations related to this gene include histone acetyltransferase activity and N-acetyltransferase activity.
UniProtKB/Swiss-Prot Summary for ELP3 Gene
Catalytic tRNA acetyltransferase subunit of the RNA polymerase II elongator complex, which is a component of the RNA polymerase II (Pol II) holoenzyme and is involved in transcriptional elongation (PubMed:11714725, PubMed:11818576, PubMed:15902492, PubMed:16713582). The elongator complex is required for multiple tRNA modifications, including mcm5U (5-methoxycarbonylmethyl uridine), mcm5s2U (5-methoxycarbonylmethyl-2-thiouridine), and ncm5U (5-carbamoylmethyl uridine) (PubMed:29415125). In the elongator complex, acts as a tRNA uridine(34) acetyltransferase by mediating formation of carboxymethyluridine in the wobble base at position 34 in tRNAs (By similarity). May also act as a protein lysine acetyltransferase by mediating acetylation of target proteins; such activity is however unclear in vivo and recent evidences suggest that ELP3 primarily acts as a tRNA acetyltransferase (PubMed:29415125). Involved in neurogenesis: regulates the migration and branching of projection neurons in the developing cerebral cortex, through a process depending on alpha-tubulin acetylation (PubMed:19185337). Required for acetylation of GJA1 in the developing cerebral cortex (By similarity).