ELP1
Function
Component of the elongator complex which is required for multiple tRNA modifications, including mcm5U (5-methoxycarbonylmethyl uridine), mcm5s2U (5-methoxycarbonylmethyl-2-thiouridine), and ncm5U (5-carbamoylmethyl uridine) (PubMed:29332244). The elongator complex catalyzes the formation of carboxymethyluridine in the wobble base at position 34 in tRNAs (PubMed:29332244). Regulates the migration and branching of projection neurons in the developing cerebral cortex, through a process depending on alpha-tubulin acetylation (By similarity). ELP1 binds to tRNA, mediating interaction of the elongator complex with tRNA (By similarity). May act as a scaffold protein that assembles active IKK-MAP3K14 complexes (IKKA, IKKB and MAP3K14/NIK) (PubMed:9751059).
Involvement in disease
Neuropathy, hereditary sensory and autonomic, 3
HSAN3
A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN3 patients manifest a variety of symptoms such as alacrima, decreased taste, decreased sensitivity to pain and temperature, vasomotor instability, hypoactive or absent deep tendon reflexes, vomiting crises, and gastrointestinal dysfunction.
None
The disease is caused by variants affecting the gene represented in this entry.
Medulloblastoma
MDB
Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children.
None
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Pathway
tRNA modification; 5-methoxycarbonylmethyl-2-thiouridine-tRNA biosynthesis.
Sequence Similarities
Belongs to the ELP1/IKA1 family.
Cellular localization
- Cytoplasm
- Nucleus
Alternative names
IKAP, IKBKAP, ELP1, Elongator complex protein 1, IkappaB kinase complex-associated protein, p150, IKK complex-associated protein