DISEASES

Disease-gene associations mined from literature

Literature on ELP3

ELP3 [ENSP00000256398]

Elongator complex protein 3; 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) . 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 . Involved in neurogenesis: regulates the migration and branching of projection neurons in the developing cerebral cortex, through a process depending on alpha-tubulin acetylation . Required for acetylation of GJA1 in the developing cerebral cortex (By similarity). ECO:0000269|PubMed:11714725, ECO:0000269|PubMed:11818576, ECO:0000269|PubMed:15902492, ECO:0000269|PubMed:16713582,

Synonyms:  ELP3,  ELP3p,  hELP3,  B4DKA4,  E5RG26 ...

Linkouts:  STRING  Pharos  UniProt  OMIM