• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu26161 Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA. pcDNA3.1+-DYK On-demand $1699.00 25
OHu26161C Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA. Customized vector On-demand $1699.00 25

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Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_003640.3, 189163479
Length 3999 bp
Structure linear
Update Date 25-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA.
Product elongator complex protein 1
Comment

Summary: The protein encoded by this gene is a scaffold protein and a regulator for 3 different kinases involved in proinflammatory signaling. This encoded protein can bind NF-kappa-B-inducing kinase (NIK) and IKKs through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. [provided by RefSeq, Jul 2008].

RefSeq NP_003631.2
CDS 521..4519
Misc Feature(1)488..490
Misc Feature(2)521..3382
Misc Feature(3)521..3382
Misc Feature(4)728..4348
Misc Feature(5)3119..3121
Misc Feature(6)4031..4033
Misc Feature(7)4040..4042
Exon (1)1..465
Gene:IKBKAP
Gene Synonym:DYS; ELP1; FD; IKAP; IKI3; TOT1
Exon (2)466..670
Gene:IKBKAP
Gene Synonym:DYS; ELP1; FD; IKAP; IKI3; TOT1
Exon (3)671..823
Gene:IKBKAP
Gene Synonym:DYS; ELP1; FD; IKAP; IKI3; TOT1
Exon (4)824..905
Gene:IKBKAP
Gene Synonym:DYS; ELP1; FD; IKAP; IKI3; TOT1
Exon (5)906..986
Gene:IKBKAP
Gene Synonym:DYS; ELP1; FD; IKAP; IKI3; TOT1
Exon (6)987..1072
Gene:IKBKAP
Gene Synonym:DYS; ELP1; FD; IKAP; IKI3; TOT1
Exon (7)1073..1169
Gene:IKBKAP
Gene Synonym:DYS; ELP1; FD; IKAP; IKI3; TOT1
Exon (8)1170..1260
Gene:IKBKAP
Gene Synonym:DYS; ELP1; FD; IKAP; IKI3; TOT1
Exon (9)1261..1384
Gene:IKBKAP
Gene Synonym:DYS; ELP1; FD; IKAP; IKI3; TOT1
Exon (10)1385..1478
Gene:IKBKAP
Gene Synonym:DYS; ELP1; FD; IKAP; IKI3; TOT1
Exon (11)1479..1709
Gene:IKBKAP
Gene Synonym:DYS; ELP1; FD; IKAP; IKI3; TOT1
Exon (12)1710..1880
Gene:IKBKAP
Gene Synonym:DYS; ELP1; FD; IKAP; IKI3; TOT1
Exon (13)1881..1980
Gene:IKBKAP
Gene Synonym:DYS; ELP1; FD; IKAP; IKI3; TOT1
Exon (14)1981..2163
Gene:IKBKAP
Gene Synonym:DYS; ELP1; FD; IKAP; IKI3; TOT1
Exon (15)2164..2270
Gene:IKBKAP
Gene Synonym:DYS; ELP1; FD; IKAP; IKI3; TOT1
Exon (16)2271..2374
Gene:IKBKAP
Gene Synonym:DYS; ELP1; FD; IKAP; IKI3; TOT1
Exon (17)2375..2428
Gene:IKBKAP
Gene Synonym:DYS; ELP1; FD; IKAP; IKI3; TOT1
Exon (18)2429..2534
Gene:IKBKAP
Gene Synonym:DYS; ELP1; FD; IKAP; IKI3; TOT1
Exon (19)2535..2650
Gene:IKBKAP
Gene Synonym:DYS; ELP1; FD; IKAP; IKI3; TOT1
Exon (20)2651..2724
Gene:IKBKAP
Gene Synonym:DYS; ELP1; FD; IKAP; IKI3; TOT1
Exon (21)2725..2803
Gene:IKBKAP
Gene Synonym:DYS; ELP1; FD; IKAP; IKI3; TOT1
Exon (22)2804..2883
Gene:IKBKAP
Gene Synonym:DYS; ELP1; FD; IKAP; IKI3; TOT1
Exon (23)2884..3021
Gene:IKBKAP
Gene Synonym:DYS; ELP1; FD; IKAP; IKI3; TOT1
Exon (24)3022..3107
Gene:IKBKAP
Gene Synonym:DYS; ELP1; FD; IKAP; IKI3; TOT1
Exon (25)3108..3256
Gene:IKBKAP
Gene Synonym:DYS; ELP1; FD; IKAP; IKI3; TOT1
Exon (26)3257..3380
Gene:IKBKAP
Gene Synonym:DYS; ELP1; FD; IKAP; IKI3; TOT1
Exon (27)3381..3478
Gene:IKBKAP
Gene Synonym:DYS; ELP1; FD; IKAP; IKI3; TOT1
Exon (28)3479..3680
Gene:IKBKAP
Gene Synonym:DYS; ELP1; FD; IKAP; IKI3; TOT1
Exon (29)3681..3742
Gene:IKBKAP
Gene Synonym:DYS; ELP1; FD; IKAP; IKI3; TOT1
Exon (30)3743..3805
Gene:IKBKAP
Gene Synonym:DYS; ELP1; FD; IKAP; IKI3; TOT1
Exon (31)3806..3866
Gene:IKBKAP
Gene Synonym:DYS; ELP1; FD; IKAP; IKI3; TOT1
Exon (32)3867..3980
Gene:IKBKAP
Gene Synonym:DYS; ELP1; FD; IKAP; IKI3; TOT1
Exon (33)3981..4092
Gene:IKBKAP
Gene Synonym:DYS; ELP1; FD; IKAP; IKI3; TOT1
Exon (34)4093..4220
Gene:IKBKAP
Gene Synonym:DYS; ELP1; FD; IKAP; IKI3; TOT1
Exon (35)4221..4375
Gene:IKBKAP
Gene Synonym:DYS; ELP1; FD; IKAP; IKI3; TOT1
Exon (36)4376..4451
Gene:IKBKAP
Gene Synonym:DYS; ELP1; FD; IKAP; IKI3; TOT1
Exon (37)4452..6114
Gene:IKBKAP
Gene Synonym:DYS; ELP1; FD; IKAP; IKI3; TOT1
Translation MRNLKLFRTLEFRDIQGPGNPQCFSLRTEQGTVLIGSEHGLIEVDPVSREVKNEVSLVAE GFLPEDGSGRIVGVQDLLDQESVCVATASGDVILCSLSTQQLECVGSVASGISVMSWSPD QELVLLATGQQTLIMMTKDFEPILEQQIHQDDFGESKFITVGWGRKETQFHGSEGRQAAF QMQMHESALPWDDHRPQVTWRGDGQFFAVSVVCPETGARKVRVWNREFALQSTSEPVAGL GPALAWKPSGSLIASTQDKPNQQDIVFFEKNGLLHGHFTLPFLKDEVKVNDLLWNADSSV LAVWLEDLQREESSIPKTCVQLWTVGNYHWYLKQSLSFSTCGKSKIVSLMWDPVTPYRLH VLCQGWHYLAYDWHWTTDRSVGDNSSDLSNVAVIDGNRVLVTVFRQTVVPPPMCTYQLLF PHPVNQVTFLAHPQKSNDLAVLDASNQISVYKCGDCPSADPTVKLGAVGGSGFKVCLRTP HLEKRYKIQFENNEDQDVNPLKLGLLTWIEEDVFLAVSHSEFSPRSVIHHLTAASSEMDE EHGQLNVSSSAAVDGVIISLCCNSKTKSVVLQLADGQIFKYLWESPSLAIKPWKNSGGFP VRFPYPCTQTELAMIGEEECVLGLTDRCRFFINDIEVASNITSFAVYDEFLLLTTHSHTC QCFCLRDASFKTLQAGLSSNHVSHGEVLRKVERGSRIVTVVPQDTKLVLQMPRGNLEVVH HRALVLAQIRKWLDKLMFKEAFECMRKLRINLNLIYDHNPKVFLGNVETFIKQIDSVNHI NLFFTELKEEDVTKTMYPAPVTSSVYLSRDPDGNKIDLVCDAMRAVMESINPHKYCLSIL TSHVKKTTPELEIVLQKVHELQGNAPSDPDAVSAEEALKYLLHLVDVNELYDHSLGTYDF DLVLMVAEKSQKDPKEYLPFLNTLKKMETNYQRFTIDKYLKRYEKAIGHLSKCGPEYFPE CLNLIKDKNLYNEALKLYSPSSQQYQDISIAYGEHLMQEHMYEPAGLMFARCGAHEKALS AFLTCGNWKQALCVAAQLNFTKDQLVGLGRTLAGKLVEQRKHIDAAMVLEECAQDYEEAV LLLLEGAAWEEALRLVYKYNRLDIIETNVKPSILEAQKNYMAFLDSQTATFSRHKKRLLV VRELKEQAQQAGLDDEVPHGQESDLFSETSSVVSGSEMSGKYSHSNSRISARSSKNRRKA ERKKHSLKEGSPLEDLALLEALSEVVQNTENLKDEVYHILKVLFLFEFDEQGRELQKAFE DTLQLMERSLPEIWTLTYQQNSATPVLGPNSTANSIMASYQQQKTSVPVLDAELFIPPKI NRRTQWKLSLLD
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Position Chain Variation Link
complement(101)-dbSNP:
complement(101)-g, adbSNP:368615802
complement(120)-g, cdbSNP:374551187
complement(220)-g, cdbSNP:2275641
344+a, gdbSNP:138630440
complement(360)-t, cdbSNP:368392039
complement(366)-t, cdbSNP:117100816
complement(395)-c, adbSNP:2275640
complement(398)-g, cdbSNP:376411740
complement(417)-g, adbSNP:114048427
complement(450)-g, cdbSNP:2275639
complement(476)-dbSNP:
complement(476)-g, adbSNP:371791247
complement(490)-g, cdbSNP:375962780
complement(499)-c, adbSNP:150608921
complement(504)-t, cdbSNP:199738099
complement(508)-t, cdbSNP:142031825
complement(542)-g, adbSNP:150202264
complement(543)-c, adbSNP:370041985
complement(570)-t, cdbSNP:184017312
complement(579)-t, cdbSNP:201242143
complement(600)-t, cdbSNP:375666523
complement(620)-g, adbSNP:140944971
complement(659)-c, adbSNP:151209640
complement(674)-dbSNP:
complement(674)-t, cdbSNP:143494120
complement(709)-t, cdbSNP:2230786
complement(723)-c, adbSNP:143723093
complement(728)-g, adbSNP:3737311
complement(729)-t, cdbSNP:111936933
complement(729)-t, cdbSNP:386446110
complement(757)-g, adbSNP:200920506
complement(790)-t, adbSNP:200640674
complement(806)-t, cdbSNP:35942802
complement(814)-g, adbSNP:372571633
complement(842)-dbSNP:
complement(842)-t, cdbSNP:192047457
868+c, tdbSNP:2230787
complement(930)-dbSNP:
complement(930)-t, gdbSNP:201460139
complement(944)-g, adbSNP:370034421
961+a, gdbSNP:2230788
complement(1002)-dbSNP:
complement(1002)-g, adbSNP:149617554
complement(1031)-g, cdbSNP:202179488
complement(1065)-t, adbSNP:10521092
complement(1108)-dbSNP:
complement(1108)-t, cdbSNP:146875913
complement(1122)-t, cdbSNP:367552387
complement(1137)-c, adbSNP:184739734
complement(1175)-dbSNP:
complement(1175)-g, adbSNP:374238430
complement(1227)-g, adbSNP:374008013
complement(1250)-g, cdbSNP:200836328
complement(1271)-dbSNP:
complement(1271)-t, cdbSNP:17853166
complement(1278)-g, adbSNP:376142604
complement(1298)-g, adbSNP:371587578
complement(1336)-t, gdbSNP:201336920
complement(1339)-g, adbSNP:12340246
complement(1378)-t, cdbSNP:147517999
complement(1382)-t, cdbSNP:202184408
complement(1408)-dbSNP:
complement(1408)-t, cdbSNP:371923882
complement(1429)-g, cdbSNP:142420285
complement(1432)-c, adbSNP:368237362
complement(1443)-g, adbSNP:78135392
complement(1454)-g, adbSNP:1140064
complement(1467)-g, adbSNP:374814563
complement(1468)-t, cdbSNP:148917889
complement(1478)-t, cdbSNP:145866678
complement(1537)-dbSNP:
complement(1537)-t, gdbSNP:56053149
complement(1539)-g, adbSNP:200449531
complement(1551)-t, cdbSNP:374294411
complement(1580)-c, adbSNP:187183483
complement(1593)-t, cdbSNP:139091484
1595+c, tdbSNP:2230789
complement(1613)-c, adbSNP:367921553
complement(1636)-g, adbSNP:144878787
complement(1638)-c, adbSNP:141141120
complement(1643)-g, adbSNP:201976177
complement(1647)-g, adbSNP:376671881
complement(1649)-t, cdbSNP:34487171
complement(1663)-t, cdbSNP:35936107
complement(1733)-dbSNP:
complement(1733)-g, adbSNP:139703788
complement(1734)-t, cdbSNP:369242781
complement(1744)-t, cdbSNP:151157900
complement(1749)-g, adbSNP:375957332
complement(1750)-t, cdbSNP:41278359
complement(1783)-t, cdbSNP:371100951
complement(1798)-t, cdbSNP:372511606
complement(1829)-t, gdbSNP:148609833
complement(1830)-t, cdbSNP:368802950
complement(1835)-g, adbSNP:372117651
complement(1843)-g, adbSNP:200925118
complement(1863)-g, adbSNP:147575152
complement(1884)-dbSNP:
complement(1884)-t, cdbSNP:149685738
complement(1920)-t, gdbSNP:368040993
complement(1956..1958)-, gagdbSNP:139472133
complement(1986)-dbSNP:
complement(1986)-t, gdbSNP:140229715
complement(2057)-t, cdbSNP:201706900
complement(2062)-g, adbSNP:267602078
complement(2094)-t, cdbSNP:838827
complement(2094)-t, cdbSNP:386616947
complement(2123)-g, adbSNP:200170465
complement(2146)-g, adbSNP:149396381
complement(2175)-dbSNP:
complement(2175)-g, adbSNP:139891858
complement(2176)-t, cdbSNP:200535861
complement(2177)-c, adbSNP:376515761
complement(2195)-t, adbSNP:150638391
complement(2201)-g, adbSNP:372706811
complement(2213)-t, cdbSNP:141915722
complement(2224)-t, cdbSNP:138192941
complement(2241)-g, adbSNP:35455790
complement(2247)-t, cdbSNP:56229130
complement(2255)-g, adbSNP:199555804
complement(2278)-dbSNP:
complement(2278)-c, adbSNP:35054425
complement(2288)-t, cdbSNP:369856286
complement(2294)-g, adbSNP:376596678
complement(2320)-g, adbSNP:143315808
complement(2324)-g, adbSNP:200397694
complement(2325)-t, cdbSNP:369627815
complement(2338)-t, cdbSNP:138099341
complement(2340)-t, cdbSNP:146077661
complement(2350)-g, adbSNP:113048987
complement(2357)-t, cdbSNP:141324198
complement(2366)-t, cdbSNP:371941072
complement(2379)-dbSNP:
complement(2379)-g, cdbSNP:370377909
complement(2387)-c, adbSNP:150819862
complement(2396)-g, cdbSNP:202085601
complement(2398)-g, adbSNP:141596257
complement(2406)-t, cdbSNP:148378319
complement(2431)-dbSNP:
complement(2431)-g, adbSNP:369645371
complement(2433)-g, adbSNP:144370288
complement(2434)-t, cdbSNP:142096497
complement(2441)-t, cdbSNP:142265393
complement(2445)-g, adbSNP:377020122
complement(2446)-t, cdbSNP:10979605
complement(2466)-t, cdbSNP:201520655
2485+c, tdbSNP:2230791
complement(2493)-t, cdbSNP:372151936
complement(2495)-t, gdbSNP:200117008
complement(2522)-t, cdbSNP:369164780
complement(2528)-g, adbSNP:376699949
complement(2529)-c, adbSNP:139479557
complement(2545)-dbSNP:
complement(2545)-g, adbSNP:200532312
complement(2563)-g, adbSNP:147944437
complement(2585)-g, adbSNP:201390288
complement(2586)-t, cdbSNP:201742754
2607+a, c, gdbSNP:137853022
complement(2611)-c, adbSNP:369663142
complement(2615)-t, cdbSNP:148769518
complement(2617)-g, adbSNP:144352068
complement(2629)-t, cdbSNP:71499676
complement(2654)-dbSNP:
complement(2654)-g, adbSNP:370772658
complement(2679)-t, adbSNP:138076464
complement(2685)-t, cdbSNP:370575901
complement(2690)-g, cdbSNP:150005243
complement(2692)-g, cdbSNP:202166505
complement(2708)-g, adbSNP:375967301
complement(2709)-t, cdbSNP:374558203
complement(2737)-dbSNP:
complement(2737)-t, cdbSNP:139583037
complement(2772)-t, cdbSNP:369421634
complement(2774)-g, cdbSNP:182287137
complement(2778)-t, gdbSNP:201601641
complement(2786)-g, adbSNP:375290469
complement(2804)-dbSNP:
complement(2804)-t, cdbSNP:146338880
2814+a, c, gdbSNP:2230792
complement(2815)-t, adbSNP:137874743
complement(2898)-dbSNP:
complement(2898)-g, adbSNP:201596987
complement(2907)-g, adbSNP:377728941
complement(2914)-g, adbSNP:138819925
complement(2937)-t, cdbSNP:191464698
complement(2956)-g, adbSNP:113967847
2966+a, cdbSNP:2230793
complement(2980)-g, adbSNP:181121832
3010+a, gdbSNP:2230794
complement(3018)-t, gdbSNP:201714373
complement(3063)-dbSNP:
complement(3063)-t, gdbSNP:10979599
complement(3065)-g, cdbSNP:34550675
complement(3087)-t, gdbSNP:142186193
complement(3098)-t, cdbSNP:137983175
complement(3099)-t, cdbSNP:199796698
complement(3149)-dbSNP:
complement(3149)-t, cdbSNP:146958186
complement(3151)-g, adbSNP:138023874
complement(3160)-g, adbSNP:180790273
complement(3191)-g, adbSNP:373837396
complement(3206)-t, cdbSNP:200590656
complement(3213)-t, cdbSNP:199679232
3261+dbSNP:
3261+c, tdbSNP:28939712
complement(3268)-t, cdbSNP:200551647
complement(3289)-t, cdbSNP:370330097
complement(3319)-c, adbSNP:367974002
complement(3323)-t, adbSNP:145484092
complement(3327)-g, adbSNP:199617267
complement(3345)-t, cdbSNP:149845612
complement(3365)-g, adbSNP:201440191
3375+a, tdbSNP:2230798
complement(3428)-dbSNP:
complement(3428)-t, adbSNP:180931232
complement(3430)-t, cdbSNP:146198104
complement(3440)-t, cdbSNP:151120244
complement(3462)-t, cdbSNP:187975522
complement(3471)-t, cdbSNP:371186754
complement(3487)-dbSNP:
complement(3487)-g, adbSNP:141567919
complement(3495)-t, cdbSNP:372723869
complement(3497)-t, cdbSNP:201873298
complement(3502)-t, cdbSNP:147870527
complement(3522)-g, adbSNP:144959233
complement(3534)-g, adbSNP:55658431
complement(3552)-t, cdbSNP:368999377
complement(3557)-g, adbSNP:2230795
complement(3579..3580)-, tdbSNP:151101843
complement(3586)-t, adbSNP:372822046
3589+a, c, gdbSNP:1063110
complement(3621)-t, adbSNP:146319455
complement(3671)-t, cdbSNP:148548795
complement(3690)-dbSNP:
complement(3690)-g, adbSNP:147069577
complement(3721)-t, cdbSNP:143091867
complement(3725)-g, adbSNP:112178985
complement(3729)-t, cdbSNP:376878918
complement(3733)-g, cdbSNP:140024352
3734+a, tdbSNP:3204145
complement(3739)-t, gdbSNP:371960059
complement(3779)-dbSNP:
complement(3779)-t, cdbSNP:61749203
complement(3800)-t, cdbSNP:146440397
complement(3801)-t, cdbSNP:200941360
complement(3803)-g, cdbSNP:150595103
complement(3804)-g, adbSNP:374434020
3829+dbSNP:
3829+g, tdbSNP:1140075
complement(3844)-g, adbSNP:372541751
complement(3917)-dbSNP:
complement(3917)-g, adbSNP:372499865
complement(3918)-t, cdbSNP:143580972
complement(3929)-g, adbSNP:377679012
complement(3937)-g, cdbSNP:202080366
complement(3981)-dbSNP:
complement(3981)-t, cdbSNP:202165319
3993+c, tdbSNP:1538660
complement(3994)-g, adbSNP:146956297
complement(3997)-g, adbSNP:141257064
complement(4012)-g, adbSNP:79596285
complement(4013)-g, adbSNP:144301886
complement(4033)-g, adbSNP:199617076
complement(4036)-g, adbSNP:371811911
complement(4041)-c, adbSNP:143008686
complement(4050)-t, cdbSNP:200543069
complement(4051)-c, adbSNP:149585292
complement(4062)-t, cdbSNP:367582146
complement(4071)-t, cdbSNP:201781695
complement(4102)-dbSNP:
complement(4102)-g, adbSNP:368025337
complement(4109)-g, adbSNP:370450007
complement(4111)-g, adbSNP:144202915
complement(4112)-g, adbSNP:376078668
complement(4113)-t, cdbSNP:200322331
complement(4124)-g, adbSNP:201168521
complement(4155)-t, gdbSNP:200009363
4157+a, cdbSNP:1802207
complement(4159)-t, cdbSNP:377677858
complement(4228)-dbSNP:
complement(4228)-t, cdbSNP:368761085
complement(4249)-g, cdbSNP:201673697
complement(4266)-t, gdbSNP:75395135
complement(4270)-t, cdbSNP:149038322
complement(4304)-t, cdbSNP:200634033
complement(4305)-g, adbSNP:199723919
complement(4311)-t, cdbSNP:201888676
complement(4331)-g, adbSNP:372773763
complement(4336)-t, cdbSNP:145380688
complement(4339)-g, adbSNP:201242444
complement(4374)-g, adbSNP:199813856
complement(4389)-dbSNP:
complement(4389)-t, cdbSNP:145319352
complement(4396)-c, adbSNP:61749202
complement(4423)-c, adbSNP:200524123
complement(4438)-t, cdbSNP:146862778
complement(4469)-dbSNP:
complement(4469)-t, gdbSNP:199595486
complement(4476)-t, adbSNP:370439847
complement(4481)-t, adbSNP:367795801
complement(4507)-g, adbSNP:144816863
complement(4543)-g, cdbSNP:201039322
complement(4594)-g, adbSNP:181667931
complement(4606)-g, adbSNP:149407371
complement(4609)-g, adbSNP:149683800
4892+c, tdbSNP:150965414
complement(4911)-t, cdbSNP:10979577
4954+a, tdbSNP:1802208
complement(5021)-g, adbSNP:56305287
complement(5358)-t, cdbSNP:41313309
complement(5361)-g, adbSNP:115855085
complement(5380)-c, adbSNP:74671462
5421+a, gdbSNP:139728295
complement(5430)-g, adbSNP:146393718
complement(5590)-t, cdbSNP:41305457
5733+a, gdbSNP:143906434
complement(5766)-g, adbSNP:76994656
complement(5778..5779)-gg, acdbSNP:386737465
complement(5778)-gg, acdbSNP:66608307
complement(5778)-g, cdbSNP:13299652
complement(5779)-g, adbSNP:13299651
complement(5792)-t, adbSNP:140005128
complement(5800)-g, adbSNP:189897190
complement(5870)-t, gdbSNP:4978371
complement(5931)-t, adbSNP:117081559
complement(5948)-g, adbSNP:199666995
complement(5996)-g, adbSNP:144244054
complement(6008)-t, cdbSNP:78224677
complement(6020)-g, adbSNP:369833542
Gene SymbolIKBKAP
Gene SynonymDYS; ELP1; FD; IKAP; IKI3; TOT1
Chromosome9
Locus Map9q31
Title Cardiac glycosides correct aberrant splicing of IKBKAP-encoded mRNA in familial dysautonomia derived cells by suppressing expression of SRSF3 .
Author Liu B, Anderson SL, Qiu J and Rubin BY.
Journal FEBS J. 280 (15), 3632-3646 (2013)
Title Phosphatidylserine increases IKBKAP levels in a humanized knock-in .
Author Bochner R, Ziv Y, Zeevi D, Donyo M, Abraham L, Ashery-Padan R and Ast G.
Journal Hum. Mol. Genet. 22 (14), 2785-2794 (2013)
Title Nutraceutical-mediated restoration of wild-type levels of IKBKAP-encoded IKAP protein in familial dysautonomia-derived cells .
Author Anderson SL, Liu B, Qiu J, Sturm AJ, Schwartz JA, Peters AJ, Sullivan KA and Rubin BY.
Journal Mol Nutr Food Res 56 (4), 570-579 (2012)
Title IKAP/Elp1 is required in vivo for neurogenesis and neuronal survival, but not for neural crest migration .
Author Hunnicutt BJ, Chaverra M, George L and Lefcort F.
Journal PLoS ONE 7 (2), E32050 (2012)
Title Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia .
Author Slaugenhaupt SA, Blumenfeld A, Gill SP, Leyne M, Mull J, Cuajungco MP, Liebert CB, Chadwick B, Idelson M, Reznik L, Robbins C, Makalowska I, Brownstein M, Krappmann D, Scheidereit C, Maayan C, Axelrod FB and Gusella JF.
Journal Am. J. Hum. Genet. 68 (3), 598-605 (2001)
Title The kinase TAK1 can activate the NIK-I kappaB as well as the MAP kinase cascade in the IL-1 signalling pathway .
Author Ninomiya-Tsuji J, Kishimoto K, Hiyama A, Inoue J, Cao Z and Matsumoto K.
Journal Nature 398 (6724), 252-256 (1999)
Title IKAP is a scaffold protein of the IkappaB kinase complex .
Author Cohen L, Henzel WJ and Baeuerle PA.
Journal Nature 395 (6699), 292-296 (1998)
Title Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis .
Author Blumenfeld A, Slaugenhaupt SA, Axelrod FB, Lucente DE, Maayan C, Liebert CB, Ozelius LJ, Trofatter JA, Haines JL and Breakefield XO.
Journal Nat. Genet. 4 (2), 160-164 (1993)
Title Hirschsprung Disease Overview .
Author Parisi,M.A.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Familial Dysautonomia .
Author Shohat,M. and Halpern,G.J.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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