InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CDKL5

Summary

InnateDB Protein

IDBP-48623.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CDKL5

Protein Name

cyclin-dependent kinase-like 5

Synonyms

EIEE2; ISSX; STK9;

Species

Homo sapiens

Ensembl Protein

ENSP00000369332

InnateDB Gene

IDBG-48621 (CDKL5)

Protein Structure

UniProt Annotation

Function

Mediates phosphorylation of MECP2. {ECO:0000269PubMed:15917271, ECO:0000269PubMed:16935860}.

Subcellular Localization

Nucleus {ECO:0000269PubMed:16935860}.

Disease Associations

Note=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. {ECO:0000269PubMed:12736870, ECO:0000269PubMed:15492925, ECO:0000269PubMed:15499549, ECO:0000269PubMed:15689447, ECO:0000269PubMed:15917271, ECO:0000269PubMed:16015284, ECO:0000269PubMed:16611748, ECO:0000269PubMed:17993579, ECO:0000269PubMed:18790821, ECO:0000269PubMed:18809835, ECO:0000269PubMed:19241098, ECO:0000269PubMed:19253388, ECO:0000269PubMed:24564546}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

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

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.

Experimentally validated
Total	9 [view]
Protein-Protein	9 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004672	protein kinase activity
GO:0004674	protein serine/threonine kinase activity
GO:0004693	cyclin-dependent protein serine/threonine kinase activity
GO:0004713	protein tyrosine kinase activity
GO:0005524	ATP binding
GO:0016301	kinase activity
GO:0016772	transferase activity, transferring phosphorus-containing groups
GO:0048365	Rac GTPase binding

Biological Process

GO:0001764	neuron migration
GO:0006468	protein phosphorylation
GO:0032855	positive regulation of Rac GTPase activity
GO:0045773	positive regulation of axon extension
GO:0046777	protein autophosphorylation
GO:0050773	regulation of dendrite development
GO:0050775	positive regulation of dendrite morphogenesis
GO:0051726	regulation of cell cycle

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0032587	ruffle membrane
GO:0032839	dendrite cytoplasm
GO:0044294	dendritic growth cone

Protein Structure and Domains

PDB ID

InterPro

IPR000719 Protein kinase domain
IPR001245 Serine-threonine/tyrosine-protein kinase catalytic domain
IPR002290 Serine/threonine/dual specificity protein kinase, catalytic domain
IPR011009 Protein kinase-like domain
IPR020635 Tyrosine-protein kinase, catalytic domain

PFAM

PF00069
PF07714

PRINTS

PR00109

PIRSF

SMART

SM00220
SM00219

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt