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MGP003580

UniProt Annotations

Entry Information
Gene Nameinhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
Protein EntryELP1_HUMAN
UniProt IDO95163
SpeciesHuman
Comments
Comment typeDescription
DiseaseNeuropathy, hereditary sensory and autonomic, 3 (HSAN3) [MIM:223900]: 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. {ECO:0000269|PubMed:11179008, ECO:0000269|PubMed:11179021}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionActs 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). {ECO:0000250|UniProtKB:Q7TT37}.
FunctionMay act as a scaffold protein that may assemble active IKK-MAP3K14 complexes (IKKA, IKKB and MAP3K14/NIK).
InteractionQ9H9T3:ELP3; NbExp=8; IntAct=EBI-347559, EBI-355217; P42858:HTT; NbExp=4; IntAct=EBI-347559, EBI-466029; Q15306:IRF4; NbExp=2; IntAct=EBI-347559, EBI-751345;
Sequence CautionSequence=CAB43219.1; Type=Frameshift; Positions=1286; Evidence={ECO:0000305};
SimilarityBelongs to the ELP1/IKA1 family. {ECO:0000305}.
Subcellular LocationCytoplasm. Nucleus.
SubunitInteracts preferentially with MAP3K14/NIK followed by IKK-alpha and IKK-beta. Component of the RNA polymerase II elongator complex (Elongator), which consists of IKBKAP/ELP1, STIP1/ELP2, ELP3, ELP4, ELP5 and ELP6. Elongator associates with the C-terminal domain (CTD) of Pol II largest subunit. Interacts with ELP3. {ECO:0000269|PubMed:11714725, ECO:0000269|PubMed:11818576, ECO:0000269|PubMed:22854966}.
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