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O76039

- CDKL5_HUMAN

UniProt

O76039 - CDKL5_HUMAN

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Protein

Cyclin-dependent kinase-like 5

Gene
CDKL5, STK9
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Mediates phosphorylation of MECP2.2 Publications

Catalytic activityi

ATP + a protein = ADP + a phosphoprotein.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei42 – 421ATP By similarity
Active sitei135 – 1351Proton acceptor By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi19 – 279ATP By similarity

GO - Molecular functioni

  1. ATP binding Source: HGNC
  2. cyclin-dependent protein serine/threonine kinase activity Source: UniProtKB-EC
  3. kinase activity Source: MGI
  4. protein kinase activity Source: HGNC
  5. protein serine/threonine kinase activity Source: ProtInc
  6. Rac GTPase binding Source: BHF-UCL

GO - Biological processi

  1. neuron migration Source: BHF-UCL
  2. positive regulation of axon extension Source: BHF-UCL
  3. positive regulation of dendrite morphogenesis Source: BHF-UCL
  4. positive regulation of Rac GTPase activity Source: BHF-UCL
  5. protein autophosphorylation Source: HGNC
  6. protein phosphorylation Source: ProtInc
  7. regulation of dendrite development Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Kinase, Serine/threonine-protein kinase, Transferase

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDAi2.7.11.22. 2681.
SignaLinkiO76039.

Names & Taxonomyi

Protein namesi
Recommended name:
Cyclin-dependent kinase-like 5 (EC:2.7.11.22)
Alternative name(s):
Serine/threonine-protein kinase 9
Gene namesi
Name:CDKL5
Synonyms:STK9
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:11411. CDKL5.

Subcellular locationi

Nucleus 1 Publication

GO - Cellular componenti

  1. cytoplasm Source: HPA
  2. dendrite cytoplasm Source: BHF-UCL
  3. dendritic growth cone Source: BHF-UCL
  4. nucleus Source: HGNC
  5. ruffle membrane Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Chromosomal aberrations involving CDKL5 are found in patients manifesting early-onset seizures and spams and psychomotor impairment. Translocation t(X;6)(p22.3;q14); translocation t(X;7)(p22.3;p15).
Epileptic encephalopathy, early infantile, 2 (EIEE2) [MIM:300672]: A severe form of epilepsy characterized by seizures or spasms beginning in infancy. Patients with epileptic encephalopathy early infantile type 2 manifest features resembling Rett syndrome such as microcephaly, lack of speech development, stereotypic hand movements. However, EIEE2 and Rett syndrome are considered two distinct entities.
Note: The disease is caused by mutations affecting the gene represented in this entry.13 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti40 – 401A → V in EIEE2; causes mislocalization of the protein in the cytoplasm. 2 Publications
VAR_058022
Natural varianti72 – 721I → N in EIEE2. 1 Publication
VAR_058023
Natural varianti72 – 721I → T in EIEE2. 1 Publication
VAR_058024
Natural varianti127 – 1271H → R in EIEE2. 1 Publication
VAR_058025
Natural varianti152 – 1521C → F in EIEE2; affect activity; causes mislocalization of the protein in the cytoplasm. 2 Publications
VAR_023560
Natural varianti175 – 1751R → S in EIEE2; affect activity; does not affect the cellular distribution of the protein. 2 Publications
VAR_023561
Natural varianti178 – 1781R → P in EIEE2. 1 Publication
VAR_058026
Natural varianti178 – 1781R → Q in EIEE2.
VAR_071103
Natural varianti180 – 1801P → L in EIEE2. 1 Publication
VAR_037635
Natural varianti220 – 2201L → P in EIEE2; causes mislocalization of the protein in the cytoplasm. 2 Publications
VAR_058027
Natural varianti288 – 2881T → I in EIEE2. 1 Publication
VAR_058028
Natural varianti291 – 2911C → Y in EIEE2. 1 Publication
VAR_058029
Natural varianti399 – 3991N → T in EIEE2. 1 Publication
VAR_058030
Natural varianti718 – 7181V → M in EIEE2. 1 Publication
VAR_058032
Natural varianti793 – 7931V → A in EIEE2; unknown pathological significance. 1 Publication
VAR_037636

Keywords - Diseasei

Disease mutation, Epilepsy, Mental retardation

Organism-specific databases

MIMi300672. phenotype.
PharmGKBiPA36218.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 10301030Cyclin-dependent kinase-like 5PRO_0000085826Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei407 – 4071Phosphoserine4 Publications
Modified residuei720 – 7201Phosphoserine1 Publication
Modified residuei761 – 7611Phosphoserine1 Publication

Post-translational modificationi

Autophosphorylated.2 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiO76039.
PaxDbiO76039.
PRIDEiO76039.

PTM databases

PhosphoSiteiO76039.

Expressioni

Tissue specificityi

Expressed in brain, lung, kidney, prostate, ovary, placenta, pancreas and testis.

Gene expression databases

BgeeiO76039.
CleanExiHS_CDKL5.
GenevestigatoriO76039.

Organism-specific databases

HPAiCAB011577.
HPA002847.

Interactioni

Subunit structurei

Interacts with MECP2.1 Publication

Protein-protein interaction databases

BioGridi112668. 6 interactions.
IntActiO76039. 6 interactions.
MINTiMINT-7241055.
STRINGi9606.ENSP00000369325.

Structurei

Secondary structure

1
1030
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Turni10 – 123
Beta strandi13 – 2412
Beta strandi26 – 327
Turni33 – 353
Beta strandi38 – 436
Helixi55 – 6612
Beta strandi75 – 817
Beta strandi84 – 907
Beta strandi93 – 953
Helixi96 – 1027
Helixi109 – 12820
Helixi138 – 1403
Beta strandi141 – 1433
Beta strandi149 – 1513
Helixi180 – 1834
Helixi191 – 20616
Helixi216 – 22712
Helixi232 – 2409
Helixi242 – 2443
Helixi258 – 2625
Turni263 – 2653
Helixi268 – 27710
Helixi282 – 2843
Helixi288 – 2925
Helixi295 – 2984

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4BGQX-ray2.00A1-303[»]
ProteinModelPortaliO76039.
SMRiO76039. Positions 9-343.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini13 – 297285Protein kinaseAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi784 – 7896Poly-Lys

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG0515.
HOGENOMiHOG000049181.
HOVERGENiHBG050863.
InParanoidiO76039.
KOiK08824.
OMAiQPGSTSK.
OrthoDBiEOG7992PS.
PhylomeDBiO76039.
TreeFamiTF101032.

Family and domain databases

InterProiIPR011009. Kinase-like_dom.
IPR000719. Prot_kinase_dom.
IPR017441. Protein_kinase_ATP_BS.
IPR002290. Ser/Thr_dual-sp_kinase_dom.
IPR008271. Ser/Thr_kinase_AS.
[Graphical view]
PfamiPF00069. Pkinase. 1 hit.
[Graphical view]
SMARTiSM00220. S_TKc. 1 hit.
[Graphical view]
SUPFAMiSSF56112. SSF56112. 1 hit.
PROSITEiPS00107. PROTEIN_KINASE_ATP. 1 hit.
PS50011. PROTEIN_KINASE_DOM. 1 hit.
PS00108. PROTEIN_KINASE_ST. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: O76039-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MKIPNIGNVM NKFEILGVVG EGAYGVVLKC RHKETHEIVA IKKFKDSEEN     50
EEVKETTLRE LKMLRTLKQE NIVELKEAFR RRGKLYLVFE YVEKNMLELL 100
EEMPNGVPPE KVKSYIYQLI KAIHWCHKND IVHRDIKPEN LLISHNDVLK 150
LCDFGFARNL SEGNNANYTE YVATRWYRSP ELLLGAPYGK SVDMWSVGCI 200
LGELSDGQPL FPGESEIDQL FTIQKVLGPL PSEQMKLFYS NPRFHGLRFP 250
AVNHPQSLER RYLGILNSVL LDLMKNLLKL DPADRYLTEQ CLNHPTFQTQ 300
RLLDRSPSRS AKRKPYHVES STLSNRNQAG KSTALQSHHR SNSKDIQNLS 350
VGLPRADEGL PANESFLNGN LAGASLSPLH TKTYQASSQP GSTSKDLTNN 400
NIPHLLSPKE AKSKTEFDFN IDPKPSEGPG TKYLKSNSRS QQNRHSFMES 450
SQSKAGTLQP NEKQSRHSYI DTIPQSSRSP SYRTKAKSHG ALSDSKSVSN 500
LSEARAQIAE PSTSRYFPSS CLDLNSPTSP TPTRHSDTRT LLSPSGRNNR 550
NEGTLDSRRT TTRHSKTMEE LKLPEHMDSS HSHSLSAPHE SFSYGLGYTS 600
PFSSQQRPHR HSMYVTRDKV RAKGLDGSLS IGQGMAARAN SLQLLSPQPG 650
EQLPPEMTVA RSSVKETSRE GTSSFHTRQK SEGGVYHDPH SDDGTAPKEN 700
RHLYNDPVPR RVGSFYRVPS PRPDNSFHEN NVSTRVSSLP SESSSGTNHS 750
KRQPAFDPWK SPENISHSEQ LKEKEKQGFF RSMKKKKKKS QTVPNSDSPD 800
LLTLQKSIHS ASTPSSRPKE WRPEKISDLQ TQSQPLKSLR KLLHLSSASN 850
HPASSDPRFQ PLTAQQTKNS FSEIRIHPLS QASGGSSNIR QEPAPKGRPA 900
LQLPDGGCDG RRQRHHSGPQ DRRFMLRTTE QQGEYFCCGD PKKPHTPCVP 950
NRALHRPISS PAPYPVLQVR GTSMCPTLQV RGTDAFSCPT QQSGFSFFVR 1000
HVMREALIHR AQVNQAALLT YHENAALTGK 1030
Length:1,030
Mass (Da):115,538
Last modified:November 1, 1998 - v1
Checksum:i8A1C9C438610EF08
GO
Isoform 2 (identifier: O76039-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     905-1030: DGGCDGRRQR...YHENAALTGK → GQMDPGWHVS...NLNDLKETAL

Note: Predominant transcript in brain.

Show »
Length:960
Mass (Da):107,519
Checksum:i6E955E0B40DBC1B8
GO

Sequence cautioni

The sequence CAA61445.1 differs from that shown. Reason: Frameshift at position 415.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti40 – 401A → V in EIEE2; causes mislocalization of the protein in the cytoplasm. 2 Publications
VAR_058022
Natural varianti72 – 721I → N in EIEE2. 1 Publication
VAR_058023
Natural varianti72 – 721I → T in EIEE2. 1 Publication
VAR_058024
Natural varianti127 – 1271H → R in EIEE2. 1 Publication
VAR_058025
Natural varianti152 – 1521C → F in EIEE2; affect activity; causes mislocalization of the protein in the cytoplasm. 2 Publications
VAR_023560
Natural varianti175 – 1751R → S in EIEE2; affect activity; does not affect the cellular distribution of the protein. 2 Publications
VAR_023561
Natural varianti178 – 1781R → P in EIEE2. 1 Publication
VAR_058026
Natural varianti178 – 1781R → Q in EIEE2.
VAR_071103
Natural varianti180 – 1801P → L in EIEE2. 1 Publication
VAR_037635
Natural varianti220 – 2201L → P in EIEE2; causes mislocalization of the protein in the cytoplasm. 2 Publications
VAR_058027
Natural varianti288 – 2881T → I in EIEE2. 1 Publication
VAR_058028
Natural varianti291 – 2911C → Y in EIEE2. 1 Publication
VAR_058029
Natural varianti368 – 3681N → H in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036578
Natural varianti374 – 3741A → T in a metastatic melanoma sample; somatic mutation. 1 Publication
VAR_041997
Natural varianti399 – 3991N → T in EIEE2. 1 Publication
VAR_058030
Natural varianti444 – 4441R → C.1 Publication
VAR_058031
Natural varianti574 – 5741P → Q in an ovarian serous carcinoma sample; somatic mutation. 1 Publication
VAR_041998
Natural varianti718 – 7181V → M in EIEE2. 1 Publication
VAR_058032
Natural varianti734 – 7341T → A.1 Publication
Corresponds to variant rs55803460 [ dbSNP | Ensembl ].
VAR_041999
Natural varianti791 – 7911Q → P.4 Publications
Corresponds to variant rs35478150 [ dbSNP | Ensembl ].
VAR_023562
Natural varianti793 – 7931V → A in EIEE2; unknown pathological significance. 1 Publication
VAR_037636
Natural varianti923 – 9231R → C.1 Publication
VAR_058033
Natural varianti999 – 9991V → M.
Corresponds to variant rs35693326 [ dbSNP | Ensembl ].
VAR_037637
Natural varianti1023 – 10231E → G.1 Publication
Corresponds to variant rs34166184 [ dbSNP | Ensembl ].
VAR_042000

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei905 – 1030126DGGCD…ALTGK → GQMDPGWHVSSVTRSATEGP SYSEQLGAKSGPNGHPYNRT NRSRMPNLNDLKETAL in isoform 2. VSP_044082Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti339 – 3402HR → GT in CAA61445. 1 Publication
Sequence conflicti541 – 5411L → W in CAA61445. 1 Publication
Sequence conflicti731 – 76434Missing in CAA61445. 1 PublicationAdd
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
Y15057 mRNA. Translation: CAA75342.1.
AY217744 mRNA. Translation: AAO64440.1.
HQ171445 mRNA. Translation: ADN38258.1.
Z92542, AL109798 Genomic DNA. Translation: CAI42485.1.
AL109798, Z92542 Genomic DNA. Translation: CAI41159.1.
X89059 mRNA. Translation: CAA61445.1. Frameshift.
CCDSiCCDS14186.1. [O76039-1]
PIRiS58296.
RefSeqiNP_001032420.1. NM_001037343.1. [O76039-1]
NP_003150.1. NM_003159.2. [O76039-1]
XP_006724574.1. XM_006724511.1. [O76039-1]
UniGeneiHs.659851.

Genome annotation databases

EnsembliENST00000379989; ENSP00000369325; ENSG00000008086. [O76039-1]
ENST00000379996; ENSP00000369332; ENSG00000008086. [O76039-1]
GeneIDi6792.
KEGGihsa:6792.
UCSCiuc004cym.3. human. [O76039-1]
uc022btn.1. human. [O76039-2]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
Y15057 mRNA. Translation: CAA75342.1 .
AY217744 mRNA. Translation: AAO64440.1 .
HQ171445 mRNA. Translation: ADN38258.1 .
Z92542 , AL109798 Genomic DNA. Translation: CAI42485.1 .
AL109798 , Z92542 Genomic DNA. Translation: CAI41159.1 .
X89059 mRNA. Translation: CAA61445.1 . Frameshift.
CCDSi CCDS14186.1. [O76039-1 ]
PIRi S58296.
RefSeqi NP_001032420.1. NM_001037343.1. [O76039-1 ]
NP_003150.1. NM_003159.2. [O76039-1 ]
XP_006724574.1. XM_006724511.1. [O76039-1 ]
UniGenei Hs.659851.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
4BGQ X-ray 2.00 A 1-303 [» ]
ProteinModelPortali O76039.
SMRi O76039. Positions 9-343.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112668. 6 interactions.
IntActi O76039. 6 interactions.
MINTi MINT-7241055.
STRINGi 9606.ENSP00000369325.

Chemistry

BindingDBi O76039.
ChEMBLi CHEMBL1163112.

PTM databases

PhosphoSitei O76039.

Proteomic databases

MaxQBi O76039.
PaxDbi O76039.
PRIDEi O76039.

Protocols and materials databases

DNASUi 6792.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000379989 ; ENSP00000369325 ; ENSG00000008086 . [O76039-1 ]
ENST00000379996 ; ENSP00000369332 ; ENSG00000008086 . [O76039-1 ]
GeneIDi 6792.
KEGGi hsa:6792.
UCSCi uc004cym.3. human. [O76039-1 ]
uc022btn.1. human. [O76039-2 ]

Organism-specific databases

CTDi 6792.
GeneCardsi GC0XP018443.
HGNCi HGNC:11411. CDKL5.
HPAi CAB011577.
HPA002847.
MIMi 300203. gene.
300672. phenotype.
neXtProti NX_O76039.
PharmGKBi PA36218.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0515.
HOGENOMi HOG000049181.
HOVERGENi HBG050863.
InParanoidi O76039.
KOi K08824.
OMAi QPGSTSK.
OrthoDBi EOG7992PS.
PhylomeDBi O76039.
TreeFami TF101032.

Enzyme and pathway databases

BRENDAi 2.7.11.22. 2681.
SignaLinki O76039.

Miscellaneous databases

ChiTaRSi CDKL5. human.
GeneWikii CDKL5.
GenomeRNAii 6792.
NextBioi 26529.
PROi O76039.
SOURCEi Search...

Gene expression databases

Bgeei O76039.
CleanExi HS_CDKL5.
Genevestigatori O76039.

Family and domain databases

InterProi IPR011009. Kinase-like_dom.
IPR000719. Prot_kinase_dom.
IPR017441. Protein_kinase_ATP_BS.
IPR002290. Ser/Thr_dual-sp_kinase_dom.
IPR008271. Ser/Thr_kinase_AS.
[Graphical view ]
Pfami PF00069. Pkinase. 1 hit.
[Graphical view ]
SMARTi SM00220. S_TKc. 1 hit.
[Graphical view ]
SUPFAMi SSF56112. SSF56112. 1 hit.
PROSITEi PS00107. PROTEIN_KINASE_ATP. 1 hit.
PS50011. PROTEIN_KINASE_DOM. 1 hit.
PS00108. PROTEIN_KINASE_ST. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region."
    Montini E., Andolfi G., Caruso A., Buchner G., Walpole S.M., Mariani M., Consalez G.G., Trump D., Ballabio A., Franco B.
    Genomics 51:427-433(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation."
    Kalscheuer V.M., Tao J., Donnelly A., Hollway G., Schwinger E., Kuebart S., Menzel C., Hoeltzenbein M., Tommerup N., Eyre H., Harbord M., Haan E., Sutherland G.R., Ropers H.-H., Gecz J.
    Am. J. Hum. Genet. 72:1401-1411(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INVOLVEMENT IN EIEE2, CHROMOSOMAL TRANSLOCATION, VARIANT PRO-791.
  3. "A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain."
    Williamson S.L., Giudici L., Kilstrup-Nielsen C., Gold W., Pelka G.J., Tam P.P., Grimm A., Prodi D., Landsberger N., Christodoulou J.
    Hum. Genet. 131:187-200(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), ALTERNATIVE SPLICING.
  4. "The DNA sequence of the human X chromosome."
    Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
    , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
    Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "Differential screening leads to novel genetic markers of monocyte to macrophage maturation."
    Krause S.W., Rehli M., Kreutz M., Schwarzfischer L., Paulauskis J.D., Andreesen J.D.
    J. Leukoc. Biol. 60:540-545(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 339-789.
  6. Cited for: INVOLVEMENT IN EIEE2.
  7. Cited for: INTERACTION WITH MECP2, FUNCTION, AUTOPHOSPHORYLATION, INVOLVEMENT IN EIEE2.
  8. "Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation."
    Bertani I., Rusconi L., Bolognese F., Forlani G., Conca B., De Monte L., Badaracco G., Landsberger N., Kilstrup-Nielsen C.
    J. Biol. Chem. 281:32048-32056(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, AUTOPHOSPHORYLATION, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS EIEE2 PHE-152 AND SER-175.
  9. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
    Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
    Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-407 AND SER-761, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  10. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-407, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  11. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-407 AND SER-720, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  12. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-407, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  13. "Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation."
    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., Kalscheuer V.M.
    Am. J. Hum. Genet. 75:1149-1154(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS EIEE2 PHE-152 AND SER-175, VARIANT PRO-791.
  14. Cited for: INVOLVEMENT IN EIEE2.
  15. Cited for: VARIANT EIEE2 ASN-72, VARIANT CYS-444.
  16. "CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients."
    Archer H.L., Evans J., Edwards S., Colley J., Newbury-Ecob R., O'Callaghan F., Huyton M., O'Regan M., Tolmie J., Sampson J., Clarke A., Osborne J.
    J. Med. Genet. 43:729-734(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS EIEE2 LEU-180 AND ALA-793.
  17. Cited for: VARIANT [LARGE SCALE ANALYSIS] HIS-368.
  18. "Patterns of somatic mutation in human cancer genomes."
    Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G.
    , Choudhury B., Clements J., Cole J., Dicks E., Forbes S., Gray K., Halliday K., Harrison R., Hills K., Hinton J., Jenkinson A., Jones D., Menzies A., Mironenko T., Perry J., Raine K., Richardson D., Shepherd R., Small A., Tofts C., Varian J., Webb T., West S., Widaa S., Yates A., Cahill D.P., Louis D.N., Goldstraw P., Nicholson A.G., Brasseur F., Looijenga L., Weber B.L., Chiew Y.-E., DeFazio A., Greaves M.F., Green A.R., Campbell P., Birney E., Easton D.F., Chenevix-Trench G., Tan M.-H., Khoo S.K., Teh B.T., Yuen S.T., Leung S.Y., Wooster R., Futreal P.A., Stratton M.R.
    Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS [LARGE SCALE ANALYSIS] THR-374; GLN-574; ALA-734; PRO-791 AND GLY-1023.
  19. Cited for: VARIANTS EIEE2 VAL-40; PRO-220 AND MET-718.
  20. Cited for: VARIANTS EIEE2 VAL-40 AND PRO-220, CHARACTERIZATION OF VARIANTS EIEE2 VAL-40 AND PRO-220.
  21. "CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy."
    Elia M., Falco M., Ferri R., Spalletta A., Bottitta M., Calabrese G., Carotenuto M., Musumeci S.A., Lo Giudice M., Fichera M.
    Neurology 71:997-999(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS EIEE2 PRO-178; ILE-288 AND TYR-291.
  22. "A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype."
    Sprovieri T., Conforti F.L., Fiumara A., Mazzei R., Ungaro C., Citrigno L., Muglia M., Arena A., Quattrone A.
    Am. J. Med. Genet. A 149:722-725(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT EIEE2 THR-399.
  23. "Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes."
    Russo S., Marchi M., Cogliati F., Bonati M.T., Pintaudi M., Veneselli E., Saletti V., Balestrini M., Ben-Zeev B., Larizza L.
    Neurogenetics 10:241-250(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS EIEE2 THR-72 AND ARG-127, VARIANTS PRO-791 AND CYS-923.
  24. "Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients."
    Zhao Y., Zhang X., Bao X., Zhang Q., Zhang J., Cao G., Zhang J., Li J., Wei L., Pan H., Wu X.
    BMC Med. Genet. 15:24-24(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT EIEE2 GLN-178.

Entry informationi

Entry nameiCDKL5_HUMAN
AccessioniPrimary (citable) accession number: O76039
Secondary accession number(s): G9B9X4
, Q14198, Q5H985, Q8IYC7, Q9UJL6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: November 1, 1998
Last modified: September 3, 2014
This is version 144 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human and mouse protein kinases
    Human and mouse protein kinases: classification and index
  7. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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