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


RefSeq Accession Definition Services Price Order
NM_003159 Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA. ORF Sequence $1082.55
Peptide Services
Antibody Services
Protein Services


RefSeq Version NM_003159.2, 83367066
Length 3434 bp
Structure linear
Update Date 17-APR-2013
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
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
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+c, tdbSNP:267608493
786+a, c, gdbSNP:267606715
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
933+g, tdbSNP:267608515
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
1217..1218+, adbSNP:267608552
1240+dbSNP:
1240+c, tdbSNP:142665931
1249+c, tdbSNP:17853543
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
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
1776+c, tdbSNP:201893287
1849+a, cdbSNP:201786426
1867+a, gdbSNP:147300538
1901+c, tdbSNP:267608643
1928+c, tdbSNP:267608395
1961+g, tdbSNP:267608644
1974+c, tdbSNP:199897804
2015+c, tdbSNP:201209961
2020+c, tdbSNP:267608645
2050+c, gdbSNP:141478957
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
2371+c, tdbSNP:17853544
2396+c, tdbSNP:17855594
2405+a, gdbSNP:267608653
2410+dbSNP:
2410+a, tdbSNP:200333632
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
2719+c, gdbSNP:146488512
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
2922+a, gdbSNP:200809878
2968+dbSNP:
2968+c, tdbSNP:201714912
2997+a, gdbSNP:149345562
3020+c, tdbSNP:267608664
3083+dbSNP:
3083+a, cdbSNP:200236257
3107+c, tdbSNP:202153551
3161+c, tdbSNP:267608665
3181+a, gdbSNP:140944590
3186+g, tdbSNP:143243059
3237+dbSNP:
3237+g, tdbSNP:267608666
3247+c, tdbSNP:150900695
3248+a, gdbSNP:35693326
3256+c, g, tdbSNP:36022183
3265+g, tdbSNP:267608667
3266+a, gdbSNP:145462429
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
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_001037343 Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant II, mRNA. Full Length $1200.50
ORF Sequence $1082.55
NM_003159 Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA. Full Length $1201.90
ORF Sequence $1082.55
Title Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations .
Author Raymond,L., Diebold,B., Leroux,C., Maurey,H., Drouin-Garraud,V., Delahaye,A., Dulac,O., Metreau,J., Melikishvili,G., Toutain,A., Rivier,F., Bahi-Buisson,N. and Bienvenu,T.
Journal Gene 512 (1), 70-75 (2013)
Title CDKL5, a novel MYCN-repressed gene, blocks cell cycle and promotes differentiation of neuronal cells .
Author Valli,E., Trazzi,S., Fuchs,C., Erriquez,D., Bartesaghi,R., Perini,G. and Ciani,E.
Journal Biochim. Biophys. Acta 1819 (11-12), 1173-1185 (2012)
Title CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons .
Author Ricciardi,S., Ungaro,F., Hambrock,M., Rademacher,N., Stefanelli,G., Brambilla,D., Sessa,A., Magagnotti,C., Bachi,A., Giarda,E., Verpelli,C., Kilstrup-Nielsen,C., Sala,C., Kalscheuer,V.M. and Broccoli,V.
Journal Nat. Cell Biol. 14 (9), 911-923 (2012)
Title CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain .
Author Maortua,H., Martinez-Bouzas,C., Calvo,M.T., Domingo,M.R., Ramos,F., Garcia-Ribes,A., Martinez,M.J., Lopez-Ariztegui,M.A., Puente,N., Rubio,I. and Tejada,M.I.
Journal BMC Med. Genet. 13, 68 (2012)
Title What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy .
Author Kilstrup-Nielsen,C., Rusconi,L., La Montanara,P., Ciceri,D., Bergo,A., Bedogni,F. and Landsberger,N.
Journal Neural Plast. 2012, 728267 (2012)
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,J.P., Schwinger,E., Gecz,J., Ropers,H.H. and Kalscheuer,V.M.
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,L.S., Christodoulou,J., Williamson,S.L., Friend,K.L., McKenzie,O.L., Archer,H., Evans,J., Clarke,A., Pelka,G.J., Tam,P.P., Watson,C., Lahooti,H., Ellaway,C.J., 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,V.M., Tao,J., Donnelly,A., Hollway,G., Schwinger,E., Kubart,S., Menzel,C., Hoeltzenbein,M., Tommerup,N., Eyre,H., Harbord,M., Haan,E., Sutherland,G.R., Ropers,H.H. 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,S.M., 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,S.W., Rehli,M., Kreutz,M., Schwarzfischer,L., Paulauskis,J.D. and Andreesen,R.
Journal J. Leukoc. Biol. 60 (4), 540-545 (1996)

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