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Database:

Blast Method:

 
 


Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu25494 Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA. pcDNA3.1+-DYK On-demand $1699.00 25
OHu25494C Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, 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_003159.2, 83367066
Length 3093 bp
Structure linear
Update Date 18-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.
Product cyclin-dependent kinase-like 5
Comment

Summary: This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and Rett syndrome (RTT). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (I) represents the longer transcript. Variants I and II encode the same protein.

RefSeq NP_003150.1
CDS 254..3346
Misc Feature(1)128..130
Misc Feature(2)128..130
Misc Feature(3)284..1144
Misc Feature(4)284..1144
Misc Feature(5)290..1144
Misc Feature(6)order(308..319,332..334,371..373,377..379,428..430,
Misc Feature(7)order(308..319,332..334,371..373,377..379,470..472,
Misc Feature(8)order(428..430,542..544,656..658,662..664,719..721,
Misc Feature(9)707..781
Misc Feature(10)1472..1474
Misc Feature(11)2411..2413
Misc Feature(12)2534..2536
Exon (1)1..91
Gene:CDKL5
Gene Synonym:EIEE2; ISSX; STK9
Exon (2)92..317
Gene:CDKL5
Gene Synonym:EIEE2; ISSX; STK9
Exon (3)318..352
Gene:CDKL5
Gene Synonym:EIEE2; ISSX; STK9
Exon (4)353..398
Gene:CDKL5
Gene Synonym:EIEE2; ISSX; STK9
Exon (5)399..535
Gene:CDKL5
Gene Synonym:EIEE2; ISSX; STK9
Exon (6)536..656
Gene:CDKL5
Gene Synonym:EIEE2; ISSX; STK9
Exon (7)657..716
Gene:CDKL5
Gene Synonym:EIEE2; ISSX; STK9
Exon (8)717..807
Gene:CDKL5
Gene Synonym:EIEE2; ISSX; STK9
Exon (9)808..997
Gene:CDKL5
Gene Synonym:EIEE2; ISSX; STK9
Exon (10)998..1078
Gene:CDKL5
Gene Synonym:EIEE2; ISSX; STK9
Exon (11)1079..1230
Gene:CDKL5
Gene Synonym:EIEE2; ISSX; STK9
Exon (12)1231..2197
Gene:CDKL5
Gene Synonym:EIEE2; ISSX; STK9
Exon (13)2198..2299
Gene:CDKL5
Gene Synonym:EIEE2; ISSX; STK9
Exon (14)2300..2405
Gene:CDKL5
Gene Synonym:EIEE2; ISSX; STK9
Exon (15)2406..2529
Gene:CDKL5
Gene Synonym:EIEE2; ISSX; STK9
Exon (16)2530..2629
Gene:CDKL5
Gene Synonym:EIEE2; ISSX; STK9
Exon (17)2630..2749
Gene:CDKL5
Gene Synonym:EIEE2; ISSX; STK9
Exon (18)2750..2966
Gene:CDKL5
Gene Synonym:EIEE2; ISSX; STK9
Exon (19)2967..3050
Gene:CDKL5
Gene Synonym:EIEE2; ISSX; STK9
Exon (20)3051..3233
Gene:CDKL5
Gene Synonym:EIEE2; ISSX; STK9
Exon (21)3234..3431
Gene:CDKL5
Gene Synonym:EIEE2; ISSX; STK9
Translation MKIPNIGNVMNKFEILGVVGEGAYGVVLKCRHKETHEIVAIKKFKDSEENEEVKETTLRE LKMLRTLKQENIVELKEAFRRRGKLYLVFEYVEKNMLELLEEMPNGVPPEKVKSYIYQLI KAIHWCHKNDIVHRDIKPENLLISHNDVLKLCDFGFARNLSEGNNANYTEYVATRWYRSP ELLLGAPYGKSVDMWSVGCILGELSDGQPLFPGESEIDQLFTIQKVLGPLPSEQMKLFYS NPRFHGLRFPAVNHPQSLERRYLGILNSVLLDLMKNLLKLDPADRYLTEQCLNHPTFQTQ RLLDRSPSRSAKRKPYHVESSTLSNRNQAGKSTALQSHHRSNSKDIQNLSVGLPRADEGL PANESFLNGNLAGASLSPLHTKTYQASSQPGSTSKDLTNNNIPHLLSPKEAKSKTEFDFN IDPKPSEGPGTKYLKSNSRSQQNRHSFMESSQSKAGTLQPNEKQSRHSYIDTIPQSSRSP SYRTKAKSHGALSDSKSVSNLSEARAQIAEPSTSRYFPSSCLDLNSPTSPTPTRHSDTRT LLSPSGRNNRNEGTLDSRRTTTRHSKTMEELKLPEHMDSSHSHSLSAPHESFSYGLGYTS PFSSQQRPHRHSMYVTRDKVRAKGLDGSLSIGQGMAARANSLQLLSPQPGEQLPPEMTVA RSSVKETSREGTSSFHTRQKSEGGVYHDPHSDDGTAPKENRHLYNDPVPRRVGSFYRVPS PRPDNSFHENNVSTRVSSLPSESSSGTNHSKRQPAFDPWKSPENISHSEQLKEKEKQGFF RSMKKKKKKSQTVPNSDSPDLLTLQKSIHSASTPSSRPKEWRPEKISDLQTQSQPLKSLR KLLHLSSASNHPASSDPRFQPLTAQQTKNSFSEIRIHPLSQASGGSSNIRQEPAPKGRPA LQLPDGGCDGRRQRHHSGPQDRRFMLRTTEQQGEYFCCGDPKKPHTPCVPNRALHRPISS PAPYPVLQVRGTSMCPTLQVRGTDAFSCPTQQSGFSFFVRHVMREALIHRAQVNQAALLT YHENAALTGK
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Position Chain Variation Link
40+dbSNP:
40+a, gdbSNP:373175008
169+c, gdbSNP:370866731
230+g, tdbSNP:372701493
249+a, tdbSNP:79219416
260+a, tdbSNP:138539908
292+, tdbSNP:267608415
311+c, gdbSNP:267608418
318..319+dbSNP:
318..319+, gdbSNP:267608420
346+a, gdbSNP:140332992
372+dbSNP:
372+c, tdbSNP:122460159
378+a, gdbSNP:267608429
416..419+dbSNP:
416..419+, gaaadbSNP:267608433
428+c, tdbSNP:62653623
433+a, gdbSNP:148697943
436+, tdbSNP:62643608
444+c, tdbSNP:267608435
445+g, tdbSNP:145496868
447+a, gdbSNP:267608436
452+c, tdbSNP:267608437
468+a, c, tdbSNP:62641235
469+a, tdbSNP:267608439
482..485+, gaagdbSNP:267608441
544+dbSNP:
544+c, tdbSNP:138125282
557+a, gdbSNP:12689931
605+c, tdbSNP:267608453
628+c, gdbSNP:372825651
633+a, gdbSNP:267608468
653+c, tdbSNP:267608472
678+dbSNP:
678+a, tdbSNP:267608477
708+g, tdbSNP:122460157
766+dbSNP:
766+a, cdbSNP:267608490
778+a, tdbSNP:61749700
785+a, c, tdbSNP:267608493
786+a, c, gdbSNP:267606715
787+a, gdbSNP:369535258
792+c, tdbSNP:61749704
802..803+, adbSNP:267608497
831+dbSNP:
831+a, gdbSNP:267608500
840+c, tdbSNP:267608501
860+g, tdbSNP:267608505
912+c, tdbSNP:267608511
913+c, tdbSNP:370073267
933+g, tdbSNP:267608515
995+c, tdbSNP:374585296
1054..1055+dbSNP:
1054..1055+, tadbSNP:267608528
1091..1100+dbSNP:
1091..1100+, ttggacccagdbSNP:61750250
1108+a, cdbSNP:267608532
1116+c, tdbSNP:267606713
1120..1121+, adbSNP:267608537
1125+a, gdbSNP:267606714
1137+, cdbSNP:267608542
1156..1157+, gadbSNP:267608546
1157+c, tdbSNP:267608547
1192+a, gdbSNP:370986597
1204+c, tdbSNP:374371309
1217..1218+, adbSNP:267608552
1240+dbSNP:
1240+c, tdbSNP:142665931
complement(1249)-t, cdbSNP:17853543
1280+a, gdbSNP:371313385
1290+g, tdbSNP:199916668
1292+c, tdbSNP:267608561
1317+a, gdbSNP:189400843
1324+c, tdbSNP:144204039
1332+, tdbSNP:267608565
1335..1336+, cdbSNP:267608566
1369+a, tdbSNP:148302590
1375+a, tdbSNP:141452495
1449+a, cdbSNP:267608611
1491+c, gdbSNP:267608618
1531+a, cdbSNP:267608620
1539+c, tdbSNP:377263491
1564..1565+, cdbSNP:267608623
1583+c, tdbSNP:61753977
1585+c, tdbSNP:150844616
1591+a, tdbSNP:139329419
1631+c, tdbSNP:4825262
1635+a, gdbSNP:267608629
1653+a, cdbSNP:267608631
1684+c, tdbSNP:143992148
1699+c, tdbSNP:372655753
1776+c, tdbSNP:201893287
1780+a, gdbSNP:369561849
1849+a, cdbSNP:201786426
1867+a, gdbSNP:147300538
1901+c, tdbSNP:267608643
1925+c, tdbSNP:373370734
1928+c, tdbSNP:267608395
1937+a, gdbSNP:376341076
1961+g, tdbSNP:267608644
1974+c, tdbSNP:199897804
1975+a, gdbSNP:371603866
2015+c, tdbSNP:201209961
2020+c, tdbSNP:267608645
2021+a, gdbSNP:372629988
2050+c, gdbSNP:141478957
2070+a, gdbSNP:375650421
2111+a, c, gdbSNP:77097064
2145+c, tdbSNP:144878564
2146..2147+, tadbSNP:267608646
2207+dbSNP:
2207+c, tdbSNP:267608647
2269..2270+, cdbSNP:267608649
2269+, cdbSNP:267608648
2319+dbSNP:
2319+, cdbSNP:267608651
2339+a, gdbSNP:374518046
2371+c, tdbSNP:17853544
2396+c, tdbSNP:17855594
2405+a, gdbSNP:267608653
2410+dbSNP:
2410+a, tdbSNP:200333632
2417+c, tdbSNP:367674558
2453+a, gdbSNP:55803460
2473+a, gdbSNP:142079769
2578..2579+dbSNP:
2578..2579+, gadbSNP:267608654
2596+, gdbSNP:62643614
2616..2620+, agaaadbSNP:267608655
2625+a, cdbSNP:35478150
2631+dbSNP:
2631+c, tdbSNP:62643617
2642+c, gdbSNP:140313320
2662+a, gdbSNP:145401225
2666+c, tdbSNP:267608659
2698+c, tdbSNP:371902632
2718+a, gdbSNP:376429571
2719+c, gdbSNP:146488512
2722+c, tdbSNP:369377144
2735+c, gdbSNP:372839442
2747+c, tdbSNP:17857094
2753+dbSNP:
2753+c, tdbSNP:122460158
2757+, cdbSNP:267608660
2782+, adbSNP:267608661
2825+, cdbSNP:267608662
2846+c, tdbSNP:267608663
2888..2889+, ctdbSNP:61753251
2905+c, tdbSNP:201473442
2906+a, gdbSNP:398123694
2922+a, gdbSNP:200809878
2926+a, gdbSNP:373448935
2968+dbSNP:
2968+c, tdbSNP:201714912
2969+c, gdbSNP:369009993
2997+a, gdbSNP:149345562
3020+c, tdbSNP:267608664
3037+a, gdbSNP:369383134
3083+dbSNP:
3083+a, cdbSNP:200236257
3094+a, gdbSNP:368344738
3107+c, tdbSNP:202153551
3120+a, gdbSNP:376557374
3129+c, gdbSNP:371847235
3161+c, tdbSNP:267608665
3181+a, gdbSNP:140944590
3186+g, tdbSNP:143243059
3194+c, gdbSNP:374054249
3237+dbSNP:
3237+g, tdbSNP:267608666
3247+c, tdbSNP:150900695
3248+a, gdbSNP:35693326
3248+c, tdbSNP:386476936
3254+c, gdbSNP:376960593
3256+c, g, tdbSNP:36022183
3265+g, tdbSNP:267608667
3266+a, gdbSNP:145462429
3296+c, gdbSNP:377160785
3321+a, gdbSNP:34166184
3337+a, c, gdbSNP:139155110
3338+a, gdbSNP:201765217
3350+c, tdbSNP:187317325
3361+c, tdbSNP:267608394
Gene SymbolCDKL5
Gene SynonymEIEE2; ISSX; STK9
ChromosomeX
Locus MapXp22
Title Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients .
Author Zhao Y, Zhang X, Bao X, Zhang Q, Zhang J, Cao G, Zhang J, Li J, Wei L, Pan H and Wu X.
Journal BMC Med. Genet. 15, 24 (2014)
Title Epileptic encephalopathy and atypical Rett syndrome with mutations in CDKL5: clinical and molecular characterization of two Brazilian patients .
Author Ermel,E.L., Carneiro,L.C., Souza,C.F., Crippa,A.C., Sanseverino,M.T. and Raskin,S.
Journal Arq Neuropsiquiatr 71 (6), 414-415 (2013)
Title CDKL5 and ARX mutations in males with early-onset epilepsy .
Author Mirzaa GM, Paciorkowski AR, Marsh ED, Berry-Kravis EM, Medne L, Alkhateeb A, Grix A, Wirrell EC, Powell BR, Nickels KC, Burton B, Paras A, Kim K, Chung W, Dobyns WB and Das S.
Journal Pediatr. Neurol. 48 (5), 367-377 (2013)
Title Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene .
Author Hagebeuk EE, van den Bossche RA and de Weerd AW.
Journal Dev Med Child Neurol 55 (5), 480-484 (2013)
Title Novel mutations in cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett syndrome .
Author Das DK, Mehta B, Menon SR, Raha S and Udani V.
Journal Neuromolecular Med. 15 (1), 218-225 (2013)
Title Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation .
Author Tao J, Van Esch H, Hagedorn-Greiwe M, Hoffmann K, Moser B, Raynaud M, Sperner J, Fryns JP, Schwinger E, Gecz J, Ropers HH and Kalscheuer VM.
Journal Am. J. Hum. Genet. 75 (6), 1149-1154 (2004)
Title Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation .
Author Weaving LS, Christodoulou J, Williamson SL, Friend KL, McKenzie OL, Archer H, Evans J, Clarke A, Pelka GJ, Tam PP, Watson C, Lahooti H, Ellaway CJ, Bennetts B, Leonard H and Gecz J.
Journal Am. J. Hum. Genet. 75 (6), 1079-1093 (2004)
Title Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation .
Author Kalscheuer VM, Tao J, Donnelly A, Hollway G, Schwinger E, Kubart S, Menzel C, Hoeltzenbein M, Tommerup N, Eyre H, Harbord M, Haan E, Sutherland GR, Ropers HH and Gecz J.
Journal Am. J. Hum. Genet. 72 (6), 1401-1411 (2003)
Title Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region .
Author Montini E, Andolfi G, Caruso A, Buchner G, Walpole SM, Mariani M, Consalez G, Trump D, Ballabio A and Franco B.
Journal Genomics 51 (3), 427-433 (1998)
Title Differential screening identifies genetic markers of monocyte to macrophage maturation .
Author Krause SW, Rehli M, Kreutz M, Schwarzfischer L, Paulauskis JD and Andreesen R.
Journal J. Leukoc. Biol. 60 (4), 540-545 (1996)

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