Description: Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (ELP1), mRNA. RefSeq Summary (NM_003640): 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]. Transcript (Including UTRs) Position: hg19 chr9:111,629,800-111,696,608 Size: 66,809 Total Exon Count: 30 Strand: - Coding Region Position: hg19 chr9:111,631,395-111,674,685 Size: 43,291 Coding Exon Count: 27
ID:ELP1_HUMAN DESCRIPTION: RecName: Full=Elongator complex protein 1; Short=ELP1; AltName: Full=IkappaB kinase complex-associated protein; Short=IKK complex-associated protein; AltName: Full=p150; FUNCTION: May act as a scaffold protein that may assemble active IKK-MAP3K14 complexes (IKKA, IKKB and MAP3K14/NIK). FUNCTION: Acts 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. SUBUNIT: Interacts 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. INTERACTION: Q9H9T3:ELP3; NbExp=4; IntAct=EBI-347559, EBI-355217; P42858:HTT; NbExp=4; IntAct=EBI-347559, EBI-466029; Q15306:IRF4; NbExp=2; IntAct=EBI-347559, EBI-751345; SUBCELLULAR LOCATION: Cytoplasm. Nucleus. DISEASE: Defects in IKBKAP are the cause of hereditary sensory and autonomic neuropathy type 3 (HSAN3) [MIM:223900]; also known as Riley-Day syndrome or familial dysautonomia (FD). This autosomal recessive disorder is due to the poor development and survival, and progressive degeneration of the sensory, sympathetic and parasympathetic neurons. HSAN3 individuals are affected with a variety of symptoms such as decreased sensitivity to pain and temperature, cardiovascular instability, recurrent pneumonias, vomiting crises, and gastrointestinal dysfunction. It is primarily confined to individuals of Ashkenazi Jewish descent, with an incidence of 1/3'600 live births. SIMILARITY: Belongs to the ELP1/IKA1 family. SEQUENCE CAUTION: Sequence=CAB43219.1; Type=Frameshift; Positions=1286; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/IKBKAP";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O95163
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
