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IKBKAP (inhibitor of kappa light polypepti … IKBKAP (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein) is a human gene encoding the IKAP protein, which is ubiquitously expressed at varying levels in all tissue types, including brain cells. The IKAP protein is thought to participate as a sub-unit in the assembly of a six-protein putative human holo-Elongator complex, which allows for transcriptional elongation by RNA polymerase II. Further evidence has implicated the IKAP protein as being critical in neuronal development, and directs that decreased expression of IKAP in certain cell types is the molecular basis for the severe, neurodevelopmental disorder familial dysautonomia. Other pathways that have been connected to IKAP protein function in a variety of organisms include tRNA modification, cell motility, and cytosolic stress signalling.Homologs of the IKBKAP gene have been identified in multiple other Eukaryotic model organisms. Notable homologs include Elp1 in yeast, Ikbkap in mice, and D-elp1 in fruit flies. The fruit fly homolog (D-elp1) has RNA-dependent RNA polymerase activity and is involved in RNA interference. The IKBKAP gene is located on the long (q) arm of chromosome 9 at position 31, from base pair 108,709,355 to base pair 108,775,950.pair 108,709,355 to base pair 108,775,950.
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q
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13
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9
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8518
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5959
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603722
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NM_003640
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IKBKAP
, FD, DYS, ELP1, IKAP, IKI3, TOT1, FLJ12497 and DKFZp781H1425
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FD, DYS, ELP1, IKAP, IKI3, TOT1, FLJ12497 and DKFZp781H1425
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q
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13
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9
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8518
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5959
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Inhibitor of κ light polypeptide gene enhancer in B-cells, kinase complex-associated protein
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603722
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NM_003640
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IKBKAP
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| rdfs:comment |
IKBKAP (inhibitor of kappa light polypepti … IKBKAP (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein) is a human gene encoding the IKAP protein, which is ubiquitously expressed at varying levels in all tissue types, including brain cells. The IKAP protein is thought to participate as a sub-unit in the assembly of a six-protein putative human holo-Elongator complex, which allows for transcriptional elongation by RNA polymerase II. Further evidence has implicated the IKAP protein as being critical in neuronal development, and directs that decreased expression of IKAP in certain cell types is the molecular basis for the severe, neurodevelopmental disorder familial dysautonomia. Other pathways that have been connected to IKAP protein function in a variety of organisms include tRNA modificavariety of organisms include tRNA modifica
|
| rdfs:label |
IKBKAP
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