Property Summary

NCBI Gene PubMed Count 59
Grant Count 296
R01 Count 145
Funding $53,574,092.67
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 0.008
osteosarcoma -1.660 0.000
medulloblastoma, large-cell -1.100 0.002
pancreatic ductal adenocarcinoma liver m... -1.979 0.008
Pick disease -1.600 0.000
ovarian cancer -2.100 0.000
dermatomyositis 1.300 0.002

Synonym

Accession O95163 Q5JSV2 Q9H327 Q9UG87 ELP1
Symbols FD
DYS
ELP1
IKAP
IKI3
TOT1

Gene

PDB

5CQR  

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
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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.
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