• Gene id: 6792

Gene Summary

• Gene Symbol: CDKL5   Gene   UCSC   Ensembl
• Aliases: CFAP247, EIEE2, ISSX, STK9
• Gene name: cyclin dependent kinase like 5
• Alternate names: cyclin-dependent kinase-like 5, cyclin dependent kinase 5 transcript, serine/threonine kinase 9, serine/threonine-protein kinase 9,
• Gene location: Xp22.13 (18425604: 18653628)     Exons: 23     NC_000023.11
• Gene summary(Entrez): 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
• OMIM: 300203

Protein Summary

• Protein general information: O76039  
  • Name: Cyclin dependent kinase like 5 (EC 2.7.11.22) (Serine/threonine protein kinase 9)
  • Length: 1030  
  • Mass: 115538
  • Tissue specificity: Expressed in brain, lung, kidney, prostate, ovary, placenta, pancreas and testis.
• Sequence:

  MKIPNIGNVMNKFEILGVVGEGAYGVVLKCRHKETHEIVAIKKFKDSEENEEVKETTLRELKMLRTLKQENIVEL
  KEAFRRRGKLYLVFEYVEKNMLELLEEMPNGVPPEKVKSYIYQLIKAIHWCHKNDIVHRDIKPENLLISHNDVLK
  LCDFGFARNLSEGNNANYTEYVATRWYRSPELLLGAPYGKSVDMWSVGCILGELSDGQPLFPGESEIDQLFTIQK
  VLGPLPSEQMKLFYSNPRFHGLRFPAVNHPQSLERRYLGILNSVLLDLMKNLLKLDPADRYLTEQCLNHPTFQTQ
  RLLDRSPSRSAKRKPYHVESSTLSNRNQAGKSTALQSHHRSNSKDIQNLSVGLPRADEGLPANESFLNGNLAGAS
  LSPLHTKTYQASSQPGSTSKDLTNNNIPHLLSPKEAKSKTEFDFNIDPKPSEGPGTKYLKSNSRSQQNRHSFMES
  SQSKAGTLQPNEKQSRHSYIDTIPQSSRSPSYRTKAKSHGALSDSKSVSNLSEARAQIAEPSTSRYFPSSCLDLN
  SPTSPTPTRHSDTRTLLSPSGRNNRNEGTLDSRRTTTRHSKTMEELKLPEHMDSSHSHSLSAPHESFSYGLGYTS
  PFSSQQRPHRHSMYVTRDKVRAKGLDGSLSIGQGMAARANSLQLLSPQPGEQLPPEMTVARSSVKETSREGTSSF
  HTRQKSEGGVYHDPHSDDGTAPKENRHLYNDPVPRRVGSFYRVPSPRPDNSFHENNVSTRVSSLPSESSSGTNHS
  KRQPAFDPWKSPENISHSEQLKEKEKQGFFRSMKKKKKKSQTVPNSDSPDLLTLQKSIHSASTPSSRPKEWRPEK
  ISDLQTQSQPLKSLRKLLHLSSASNHPASSDPRFQPLTAQQTKNSFSEIRIHPLSQASGGSSNIRQEPAPKGRPA
  LQLPDGGCDGRRQRHHSGPQDRRFMLRTTEQQGEYFCCGDPKKPHTPCVPNRALHRPISSPAPYPVLQVRGTSMC
  PTLQVRGTDAFSCPTQQSGFSFFVRHVMREALIHRAQVNQAALLTYHENAALTGK

• Structural information:
  • Protein Domains: (13..29-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159"-)
  • Interpro: IPR011009  IPR000719  IPR017441  IPR008271  
  • Prosite: PS00107 PS50011 PS00108
  • PDB: 4BGQ
  • PDBsum: 4BGQ
  • STRING: ENSP00000369325
• Other Databases: GeneCards:  CDKL5  Malacards:  CDKL5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004672	protein kinase activity	IDA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0045773	positive regulation of axon extension	IBA	biological process
GO:0050773	regulation of dendrite development	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0006468	protein phosphorylation	IBA	biological process
GO:0032839	dendrite cytoplasm	IBA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0036064	ciliary basal body	IDA	cellular component
GO:0097542	ciliary tip	IDA	cellular component
GO:1902017	regulation of cilium assembly	IMP	biological process
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0004674	protein serine/threonine kinase activity	TAS	molecular function
GO:0006468	protein phosphorylation	TAS	biological process
GO:0004693	cyclin-dependent protein serine/threonine kinase activity	IEA	molecular function
GO:0016301	kinase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0099092	postsynaptic density, intracellular component	IEA	cellular component
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0060999	positive regulation of dendritic spine development	IEA	biological process
GO:0050775	positive regulation of dendrite morphogenesis	IEA	biological process
GO:0050773	regulation of dendrite development	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0045773	positive regulation of axon extension	IEA	biological process
GO:0032587	ruffle membrane	IEA	cellular component
GO:0001764	neuron migration	IEA	biological process
GO:0048365	Rac GTPase binding	IEA	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0044294	dendritic growth cone	IEA	cellular component
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0032839	dendrite cytoplasm	IEA	cellular component
GO:0048365	Rac GTPase binding	ISS	molecular function
GO:0001764	neuron migration	ISS	biological process
GO:0032587	ruffle membrane	ISS	colocalizes with
GO:0045773	positive regulation of axon extension	ISS	biological process
GO:0050773	regulation of dendrite development	ISS	biological process
GO:0050775	positive regulation of dendrite morphogenesis	ISS	biological process
GO:0032839	dendrite cytoplasm	ISS	cellular component
GO:0043547	positive regulation of GTPase activity	ISS	biological process
GO:0044294	dendritic growth cone	ISS	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0051726	regulation of cell cycle	IEA	biological process
GO:0099175	regulation of postsynapse organization	IMP	biological process
GO:0099175	regulation of postsynapse organization	IMP	biological process
GO:0099175	regulation of postsynapse organization	IMP	biological process
GO:0099175	regulation of postsynapse organization	IMP	biological process
GO:0099175	regulation of postsynapse organization	IDA	biological process
GO:0099175	regulation of postsynapse organization	IDA	biological process
GO:0098978	glutamatergic synapse	IMP	cellular component
GO:0098978	glutamatergic synapse	IMP	cellular component
GO:0098978	glutamatergic synapse	IMP	cellular component
GO:0098978	glutamatergic synapse	IMP	cellular component
GO:0098978	glutamatergic synapse	IDA	cellular component
GO:0098978	glutamatergic synapse	IDA	cellular component

Diseases

Associated diseases	References
Early infantile epileptic encephalopathy	KEGG:H00606
Early infantile epileptic encephalopathy	KEGG:H00606
Early infantile epileptic encephalopathy 2	PMID:22678952
Intellectual disability	PMID:25315662
Visual epilepsy	PMID:22264704
Rett syndrome	PMID:23242510
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray