Property Summary

NCBI Gene PubMed Count 59
PubMed Score 897.58
PubTator Score 102.17

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
Multiple myeloma 1.070 8.3e-03
osteosarcoma -1.660 2.1e-09
medulloblastoma, large-cell -1.100 1.8e-03
pancreatic ductal adenocarcinoma liver m... -1.979 8.3e-03
Pick disease -1.600 1.7e-04
ovarian cancer -2.100 2.1e-10
dermatomyositis 1.300 1.8e-03

Protein-protein Interaction (6)

Gene RIF (40)

PMID Text
26437462 IKAP might be a vesicular like protein that might be involved in neuronal transport in hESC derived PNS neurons
26261306 The formation of the Elp1 dimer contributes to its stability in vitro and in vivo and is required for the assembly of human Elongator complexes.
24268683 IKBKAP mRNA levels decreased during a familial dysautonomia crisis and returned to baseline after recovery. The cause-and-effect relationship is unclear.
23711097 Digoxin-mediated repression of SRSF3 expression plays a role in the digoxin-mediated inclusion of exon 20 in the IKBKAP transcript generated from the familial dysautonomia mutant allele.
23515154 Phosphatidylserine increases IKBKAP levels in a humanized knock-in IKBKAP mouse model for Familial dysautonomia.
22495984 Combined treatment with epigallocatechin gallate and genistein synergistically upregulates wild-type IKBKAP-encoded RNA and protein levels in familial dysautonomia-derived cells.
22384137 IKAP plays pleiotropic roles in both the peripheral and central nervous systems
21559466 IKAP/hELP1 deficiency has an effect on gene expression in differentiating neuroblastoma cells, and possibly on familial dysautonomia
21273291 IKK complex-associated protein deficiency upregulates the microtubule destabilizing protein SCG10 and, in parallel, disorganizes the cytoskeleton
21209961 Phosphatidylserine increases IKBKAP levels in familial dysautonomia cells
21098405 IKAP is critical for the development of afferent baroreflex pathways and has therapeutic implications in the management of these patients.
20671422 IKAP regulates contactin levels for appropriate cell-cell adhesion that could modulate neuronal growth of neurons during development
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20503287 Observational study of gene-disease association. (HuGE Navigator)
20361209 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20361209 IKBKAP is a candidate gene for Hirschsprung's disease and was mapped to chromosome 9q31 locus.
20098615 Observational study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19651702 Observational study of gene-disease association. (HuGE Navigator)
19262425 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19258923 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19247692 Observational study of gene-disease association. (HuGE Navigator)
19015235 IKAP is crucial for both vascular and neural development during embryogenesis and that protein function is conserved between mouse and human.
18434448 Observational study of gene-disease association. (HuGE Navigator)
18303054 Evidence for the role of the cytosolic interactions of IKAP in cell adhesion and migration, and support the notion that cell-motility deficiencies could contribute to familial dysautonomia.
18264947 Observational study of genotype prevalence. (HuGE Navigator)
18091349 IKBKAP may have a role in familial dysautonomia
17703412 Observational study of gene-disease association. (HuGE Navigator)
17644305 description of a humanized IKBKAP transgenic mouse that models a tissue-specific human splicing defect
17591626 IKAP/hELP1 may play a role in oligodendrocyte differentiation and/or myelin formation.
17206408 investigated the nature of the FD splicing defect and the mechanism by which kinetin improves exon inclusion
17137217 Observational study of gene-disease association. (HuGE Navigator)
16964593 Neurodevelopmental disease familial dysautonomia (FD)caused by a single-base change in the 5' splice site (5'ss) of intron 20 in the IKBKAP gene (c.2204+6T>C).
16713582 whereas IKBKAP (Elongator) is recruited to both target and nontarget genes, only target genes display histone H3 hypoacetylation and progressively lower RNAPII density through the coding region in familial dysautonomia cells
12774215 Observational study of gene-disease association. (HuGE Navigator)
12774215 The study results suggest that the polymorphisms in the coding region of the IKAP gene are unlikely to contribute to atopic disease risk in the Czech population.
12577200 Tissue-specific reduction in splicing efficiency of this protein is due to the major mutation associated with familial dysautonomia.
12116234 Observational study of genotype prevalence and genetic testing. (HuGE Navigator)
12102458 Genetics of familial dysautonomia; tissue-specific expression of a splicing mutation (REVIEW)
12058026 novel role for the I kappa B kinase complex-associated protein (IKAP) in the regulation of activation of the mammalian stress response via the c-Jun N-terminal kinase (JNK)-signaling pathway

AA Sequence

MRNLKLFRTLEFRDIQGPGNPQCFSLRTEQGTVLIGSEHGLIEVDPVSREVKNEVSLVAEGFLPEDGSGR      1 - 70
IVGVQDLLDQESVCVATASGDVILCSLSTQQLECVGSVASGISVMSWSPDQELVLLATGQQTLIMMTKDF     71 - 140
EPILEQQIHQDDFGESKFITVGWGRKETQFHGSEGRQAAFQMQMHESALPWDDHRPQVTWRGDGQFFAVS    141 - 210
VVCPETGARKVRVWNREFALQSTSEPVAGLGPALAWKPSGSLIASTQDKPNQQDIVFFEKNGLLHGHFTL    211 - 280
PFLKDEVKVNDLLWNADSSVLAVWLEDLQREESSIPKTCVQLWTVGNYHWYLKQSLSFSTCGKSKIVSLM    281 - 350
WDPVTPYRLHVLCQGWHYLAYDWHWTTDRSVGDNSSDLSNVAVIDGNRVLVTVFRQTVVPPPMCTYQLLF    351 - 420
PHPVNQVTFLAHPQKSNDLAVLDASNQISVYKCGDCPSADPTVKLGAVGGSGFKVCLRTPHLEKRYKIQF    421 - 490
ENNEDQDVNPLKLGLLTWIEEDVFLAVSHSEFSPRSVIHHLTAASSEMDEEHGQLNVSSSAAVDGVIISL    491 - 560
CCNSKTKSVVLQLADGQIFKYLWESPSLAIKPWKNSGGFPVRFPYPCTQTELAMIGEEECVLGLTDRCRF    561 - 630
FINDIEVASNITSFAVYDEFLLLTTHSHTCQCFCLRDASFKTLQAGLSSNHVSHGEVLRKVERGSRIVTV    631 - 700
VPQDTKLVLQMPRGNLEVVHHRALVLAQIRKWLDKLMFKEAFECMRKLRINLNLIYDHNPKVFLGNVETF    701 - 770
IKQIDSVNHINLFFTELKEEDVTKTMYPAPVTSSVYLSRDPDGNKIDLVCDAMRAVMESINPHKYCLSIL    771 - 840
TSHVKKTTPELEIVLQKVHELQGNAPSDPDAVSAEEALKYLLHLVDVNELYDHSLGTYDFDLVLMVAEKS    841 - 910
QKDPKEYLPFLNTLKKMETNYQRFTIDKYLKRYEKAIGHLSKCGPEYFPECLNLIKDKNLYNEALKLYSP    911 - 980
SSQQYQDISIAYGEHLMQEHMYEPAGLMFARCGAHEKALSAFLTCGNWKQALCVAAQLNFTKDQLVGLGR    981 - 1050
TLAGKLVEQRKHIDAAMVLEECAQDYEEAVLLLLEGAAWEEALRLVYKYNRLDIIETNVKPSILEAQKNY   1051 - 1120
MAFLDSQTATFSRHKKRLLVVRELKEQAQQAGLDDEVPHGQESDLFSETSSVVSGSEMSGKYSHSNSRIS   1121 - 1190
ARSSKNRRKAERKKHSLKEGSPLEDLALLEALSEVVQNTENLKDEVYHILKVLFLFEFDEQGRELQKAFE   1191 - 1260
DTLQLMERSLPEIWTLTYQQNSATPVLGPNSTANSIMASYQQQKTSVPVLDAELFIPPKINRRTQWKLSL   1261 - 1330
LD                                                                       1331 - 1332
//

Text Mined References (64)

PMID Year Title
26437462 2015 Familial Dysautonomia (FD) Human Embryonic Stem Cell Derived PNS Neurons Reveal that Synaptic Vesicular and Neuronal Transport Genes Are Directly or Indirectly Affected by IKBKAP Downregulation.
26261306 2015 Dimerization of elongator protein 1 is essential for Elongator complex assembly.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24268683 2014 Dynamic changes in IKBKAP mRNA levels during crisis of familial dysautonomia patients.
23711097 2013 Cardiac glycosides correct aberrant splicing of IKBKAP-encoded mRNA in familial dysautonomia derived cells by suppressing expression of SRSF3.
23515154 2013 Phosphatidylserine increases IKBKAP levels in a humanized knock-in IKBKAP mouse model.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22854966 2012 DERP6 (ELP5) and C3ORF75 (ELP6) regulate tumorigenicity and migration of melanoma cells as subunits of Elongator.
22495984 2012 Nutraceutical-mediated restoration of wild-type levels of IKBKAP-encoded IKAP protein in familial dysautonomia-derived cells.
22384137 2012 IKAP/Elp1 is required in vivo for neurogenesis and neuronal survival, but not for neural crest migration.
21903422 2011 Mapping a dynamic innate immunity protein interaction network regulating type I interferon production.
21559466 2011 Effects of IKAP/hELP1 deficiency on gene expression in differentiating neuroblastoma cells: implications for familial dysautonomia.
21273291 2011 IKAP/Elp1 involvement in cytoskeleton regulation and implication for familial dysautonomia.
21269460 2011 Initial characterization of the human central proteome.
21209961 2010 Phosphatidylserine increases IKBKAP levels in familial dysautonomia cells.
21098405 2010 Afferent baroreflex failure in familial dysautonomia.
20671422 IKAP/hELP1 down-regulation in neuroblastoma cells causes enhanced cell adhesion mediated by contactin overexpression.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20503287 2010 Interleukin-9 polymorphism in infants with respiratory syncytial virus infection: an opposite effect in boys and girls.
20361209 2010 Fine mapping of the 9q31 Hirschsprung's disease locus.
20098615 2010 Application of gene network analysis techniques identifies AXIN1/PDIA2 and endoglin haplotypes associated with bicuspid aortic valve.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19651702 2009 Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.
19262425 2009 Investigation of genetic variants within candidate genes of the TNFRSF1B signalling pathway on the response to anti-TNF agents in a UK cohort of rheumatoid arthritis patients.
19258923 2009 Genetic susceptibility to respiratory syncytial virus bronchiolitis in preterm children is associated with airway remodeling genes and innate immune genes.
19247692 2009 Analyses of associations with asthma in four asthma population samples from Canada and Australia.
19185337 2009 Elongator controls the migration and differentiation of cortical neurons through acetylation of alpha-tubulin.
19015235 2009 Loss of mouse Ikbkap, a subunit of elongator, leads to transcriptional deficits and embryonic lethality that can be rescued by human IKBKAP.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18434448 2009 Genetic variation in the nuclear factor kappaB pathway in relation to susceptibility to rheumatoid arthritis.
18303054 2008 IKAP localizes to membrane ruffles with filamin A and regulates actin cytoskeleton organization and cell migration.
18264947 2008 Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated?
18091349 2008 IKBKAP mRNA in peripheral blood leukocytes: a molecular marker of gene expression and splicing in familial dysautonomia.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17703412 2007 Genetic susceptibility to respiratory syncytial virus bronchiolitis is predominantly associated with innate immune genes.
17644305 2007 A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect.
17591626 2007 IKAP/hELP1 deficiency in the cerebrum of familial dysautonomia patients results in down regulation of genes involved in oligodendrocyte differentiation and in myelination.
17206408 2007 Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia.
17137217 2006 Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension.
16964593 2007 Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia.
16713582 2006 Transcription impairment and cell migration defects in elongator-depleted cells: implication for familial dysautonomia.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15383276 2004 A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease.
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
15164053 2004 DNA sequence and analysis of human chromosome 9.
14743216 2004 A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14667819 2004 Analysis of a high-throughput yeast two-hybrid system and its use to predict the function of intracellular proteins encoded within the human MHC class III region.
12774215 2003 The role of the IKAP gene polymorphisms in atopic diseases in the middle European population.
12577200 2003 Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12116234 2002 Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews.
12102458 2002 Genetics of familial dysautonomia. Tissue-specific expression of a splicing mutation in the IKBKAP gene.
12058026 2002 A novel specific role for I kappa B kinase complex-associated protein in cytosolic stress signaling.
11818576 2002 Human Elongator facilitates RNA polymerase II transcription through chromatin.
11747609 2001 Cloning, characterization, and genomic structure of the mouse Ikbkap gene.
11714725 2002 Purification and characterization of the human elongator complex.
11179021 2001 Familial dysautonomia is caused by mutations of the IKAP gene.
11179008 2001 Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.
10094049 1999 The kinase TAK1 can activate the NIK-I kappaB as well as the MAP kinase cascade in the IL-1 signalling pathway.
9751059 1998 IKAP is a scaffold protein of the IkappaB kinase complex.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
8102296 1993 Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis.