Features Interactions Isoform Disease Linear motifs Fingerprint Network All partners

CDKL5_HUMAN

Evidence for PS localization

GO
G2C
SynGO
SynaptomeDB
HPA (protein expression in neurons)

Functions

Mediates phosphorylation of MECP2 (PubMed, PubMed). May regulate ciliogenesis (PubMed). [View more on UniProt]

Protein features

Binary interactions with known binding regions

To display all evidence describing the interaction with a partner, click on the protein name left to the bars.

Network

Download full PS network for entry.

Isoforms

Disease-causing germline mutations

Position Amino acid Mutation Disease Overlap with binding region
152 Cys Phe Developmentalandepilepticencephalopathy2(DEE2) -
175 Arg Ser Developmentalandepilepticencephalopathy2(DEE2) -
180 Pro Leu Developmentalandepilepticencephalopathy2(DEE2) -
40 Ala Val Developmentalandepilepticencephalopathy2(DEE2) -
72 Ile Asn Developmentalandepilepticencephalopathy2(DEE2) -
72 Ile Thr Developmentalandepilepticencephalopathy2(DEE2) -
127 His Arg Developmentalandepilepticencephalopathy2(DEE2) -
178 Arg Pro Developmentalandepilepticencephalopathy2(DEE2) -
220 Leu Pro Developmentalandepilepticencephalopathy2(DEE2) -
288 Thr Ile Developmentalandepilepticencephalopathy2(DEE2) -
291 Cys Tyr Developmentalandepilepticencephalopathy2(DEE2) -
399 Asn Thr Developmentalandepilepticencephalopathy2(DEE2) -
718 Val Met Developmentalandepilepticencephalopathy2(DEE2) -
178 Arg Gln Developmentalandepilepticencephalopathy2(DEE2) -
196 Ser Leu Developmentalandepilepticencephalopathy2(DEE2) -
182 Leu Pro Developmentalandepilepticencephalopathy2(DEE2) -
207 Gly Glu Developmentalandepilepticencephalopathy2(DEE2) -
178 Arg Trp Developmentalandepilepticencephalopathy2(DEE2) -
647 Pro Leu - -

Linear motifs

ELM instance Name Type Start End Partner
ELMI003669 MOD_DYRK1A_RPxSP_1 MOD 717 721 -

Fingerprint

Molecular function

Term Name % Distance from the top of the tree Annotated in CDKL5_HUMAN
GO:0017076 purine nucleotide binding 38.8889 4 yes
GO:0032555 purine ribonucleotide binding 38.8889 4 yes
GO:0035639 purine ribonucleoside triphosphate binding 38.8889 4 yes
GO:0005524 ATP binding 33.3333 5 yes
GO:0030554 adenyl nucleotide binding 33.3333 5 yes
GO:0032559 adenyl ribonucleotide binding 33.3333 5 yes
GO:0046872 metal ion binding 33.3333 4 no
GO:0004712 protein serine/threonine/tyrosine kinase activity 27.7778 4 yes
GO:0016301 kinase activity 27.7778 4 yes
GO:0016773 phosphotransferase activity, alcohol group as acceptor 27.7778 4 yes
GO:0003723 RNA binding 27.7778 4 no
GO:0019900 kinase binding 27.7778 4 no
GO:0019901 protein kinase binding 27.7778 5 no
GO:0003779 actin binding 27.7778 4 no
GO:0019902 phosphatase binding 22.2222 4 no
GO:0045296 cadherin binding 22.2222 4 no
GO:0004674 protein serine/threonine kinase activity 16.6667 4 yes
GO:0106310 protein serine kinase activity 16.6667 4 yes
GO:0004693 cyclin-dependent protein serine/threonine kinase activity 11.1111 5 yes
GO:0031267 small GTPase binding 11.1111 5 yes
GO:0051020 GTPase binding 11.1111 4 yes
GO:0097472 cyclin-dependent protein kinase activity 11.1111 4 yes

Biological process

Term Name % Distance from top the of the tree Annotated in CDKL5_HUMAN
GO:0048522 positive regulation of cellular process 72.2222 4 yes
GO:0051128 regulation of cellular component organization 55.5556 4 yes
GO:0060255 regulation of macromolecule metabolic process 55.5556 4 no
GO:0006996 organelle organization 50.0000 4 no
GO:0048523 negative regulation of cellular process 50.0000 4 no
GO:0045595 regulation of cell differentiation 44.4444 4 yes
GO:0051094 positive regulation of developmental process 44.4444 4 yes
GO:0051130 positive regulation of cellular component organization 44.4444 5 yes
GO:0051049 regulation of transport 44.4444 4 no
GO:0008104 protein localization 44.4444 4 no
GO:0007010 cytoskeleton organization 44.4444 5 no
GO:0010646 regulation of cell communication 44.4444 4 no
GO:0009893 positive regulation of metabolic process 44.4444 4 no
GO:0031323 regulation of cellular metabolic process 44.4444 4 no
GO:0033043 regulation of organelle organization 38.8889 5 yes
GO:0036211 protein modification process 38.8889 4 yes
GO:0043412 macromolecule modification 38.8889 4 yes
GO:0044087 regulation of cellular component biogenesis 38.8889 4 yes
GO:0010468 regulation of gene expression 38.8889 5 no
GO:0010604 positive regulation of macromolecule metabolic process 38.8889 5 no
GO:0031325 positive regulation of cellular metabolic process 38.8889 5 no
GO:0051171 regulation of nitrogen compound metabolic process 38.8889 4 no
GO:0051246 regulation of protein metabolic process 38.8889 5 no
GO:0080090 regulation of primary metabolic process 38.8889 4 no
GO:0006796 phosphate-containing compound metabolic process 33.3333 4 yes
GO:0010720 positive regulation of cell development 33.3333 6 yes
GO:0022603 regulation of anatomical structure morphogenesis 33.3333 4 yes
GO:0022604 regulation of cell morphogenesis 33.3333 5 yes
GO:0031344 regulation of cell projection organization 33.3333 5 yes
GO:0031346 positive regulation of cell projection organization 33.3333 6 yes
GO:0045597 positive regulation of cell differentiation 33.3333 5 yes
GO:0048638 regulation of developmental growth 33.3333 4 yes
GO:0051240 positive regulation of multicellular organismal process 33.3333 4 yes
GO:0060284 regulation of cell development 33.3333 5 yes
GO:2000026 regulation of multicellular organismal development 33.3333 4 yes
GO:0043269 regulation of ion transport 33.3333 5 no
GO:0009966 regulation of signal transduction 33.3333 4 no
GO:0016192 vesicle-mediated transport 33.3333 4 no
GO:0050804 modulation of chemical synaptic transmission 33.3333 5 no
GO:0051173 positive regulation of nitrogen compound metabolic process 33.3333 5 no
GO:0099177 regulation of trans-synaptic signaling 33.3333 4 no
GO:0031399 regulation of protein modification process 33.3333 6 no
GO:0006468 protein phosphorylation 27.7778 5 yes
GO:0010975 regulation of neuron projection development 27.7778 7 yes
GO:0016310 phosphorylation 27.7778 5 yes
GO:0043085 positive regulation of catalytic activity 27.7778 4 yes
GO:0046777 protein autophosphorylation 27.7778 6 yes
GO:0120035 regulation of plasma membrane bounded cell projection organization 27.7778 6 yes
GO:0072657 protein localization to membrane 27.7778 4 no
GO:1990778 protein localization to cell periphery 27.7778 5 no
GO:0009967 positive regulation of signal transduction 27.7778 5 no
GO:0010647 positive regulation of cell communication 27.7778 5 no
GO:0023056 positive regulation of signaling 27.7778 4 no
GO:0048584 positive regulation of response to stimulus 27.7778 4 no
GO:0022607 cellular component assembly 27.7778 4 no
GO:0030030 cell projection organization 27.7778 4 no
GO:0001932 regulation of protein phosphorylation 27.7778 7 no
GO:0019220 regulation of phosphate metabolic process 27.7778 6 no
GO:0031401 positive regulation of protein modification process 27.7778 7 no
GO:0042325 regulation of phosphorylation 27.7778 7 no
GO:0050890 cognition 27.7778 4 no
GO:0051174 regulation of phosphorus metabolic process 27.7778 5 no
GO:0051247 positive regulation of protein metabolic process 27.7778 6 no
GO:0051493 regulation of cytoskeleton organization 27.7778 6 no
GO:0001558 regulation of cell growth 22.2222 4 yes
GO:0030516 regulation of axon extension 22.2222 5 yes
GO:0045927 positive regulation of growth 22.2222 4 yes
GO:0048639 positive regulation of developmental growth 22.2222 5 yes
GO:0050767 regulation of neurogenesis 22.2222 6 yes
GO:0050769 positive regulation of neurogenesis 22.2222 6 yes
GO:0050807 regulation of synapse organization 22.2222 5 yes
GO:0051336 regulation of hydrolase activity 22.2222 4 yes
GO:0051960 regulation of nervous system development 22.2222 5 yes
GO:0051962 positive regulation of nervous system development 22.2222 5 yes
GO:0061387 regulation of extent of cell growth 22.2222 5 yes
GO:0042127 regulation of cell population proliferation 22.2222 4 no
GO:0060341 regulation of cellular localization 22.2222 4 no
GO:0072659 protein localization to plasma membrane 22.2222 5 no
GO:0030155 regulation of cell adhesion 22.2222 4 no
GO:0071702 organic substance transport 22.2222 4 no
GO:0071705 nitrogen compound transport 22.2222 4 no
GO:0009889 regulation of biosynthetic process 22.2222 4 no
GO:0009894 regulation of catabolic process 22.2222 4 no
GO:0010243 response to organonitrogen compound 22.2222 4 no
GO:0031326 regulation of cellular biosynthetic process 22.2222 5 no
GO:0051050 positive regulation of transport 22.2222 4 no
GO:0071310 cellular response to organic substance 22.2222 4 no
GO:0071417 cellular response to organonitrogen compound 22.2222 4 no
GO:0120036 plasma membrane bounded cell projection organization 22.2222 5 no
GO:1901699 cellular response to nitrogen compound 22.2222 4 no
GO:1901701 cellular response to oxygen-containing compound 22.2222 4 no
GO:0001934 positive regulation of protein phosphorylation 22.2222 8 no
GO:0007612 learning 22.2222 4 no
GO:0010562 positive regulation of phosphorus metabolic process 22.2222 6 no
GO:0042327 positive regulation of phosphorylation 22.2222 8 no
GO:0045937 positive regulation of phosphate metabolic process 22.2222 7 no
GO:0051129 negative regulation of cellular component organization 22.2222 5 no
GO:0009892 negative regulation of metabolic process 22.2222 4 no
GO:0032271 regulation of protein polymerization 22.2222 6 no
GO:0032956 regulation of actin cytoskeleton organization 22.2222 5 no
GO:0032970 regulation of actin filament-based process 22.2222 4 no
GO:0043254 regulation of protein-containing complex assembly 22.2222 5 no
GO:0110053 regulation of actin filament organization 22.2222 6 no
GO:1902531 regulation of intracellular signal transduction 22.2222 5 no
GO:1902903 regulation of supramolecular fiber organization 22.2222 5 no
GO:0001764 neuron migration 16.6667 4 yes
GO:0010769 regulation of cell morphogenesis involved in differentiation 16.6667 6 yes
GO:0010770 positive regulation of cell morphogenesis involved in differentiation 16.6667 7 yes
GO:0030307 positive regulation of cell growth 16.6667 5 yes
GO:0045773 positive regulation of axon extension 16.6667 6 yes
GO:0050770 regulation of axonogenesis 16.6667 5 yes
GO:0050772 positive regulation of axonogenesis 16.6667 6 yes
GO:0050773 regulation of dendrite development 16.6667 4 yes
GO:0051345 positive regulation of hydrolase activity 16.6667 5 yes
GO:0099175 regulation of postsynapse organization 16.6667 6 yes
GO:0043087 regulation of GTPase activity 11.1111 5 yes
GO:0043547 positive regulation of GTPase activity 11.1111 6 yes
GO:0048814 regulation of dendrite morphogenesis 11.1111 5 yes
GO:0050775 positive regulation of dendrite morphogenesis 11.1111 6 yes
GO:0060491 regulation of cell projection assembly 11.1111 5 yes
GO:0120032 regulation of plasma membrane bounded cell projection assembly 11.1111 6 yes
GO:1902017 regulation of cilium assembly 11.1111 6 yes
GO:1902115 regulation of organelle assembly 11.1111 5 yes

Disease

Term Name % Distance from top the of the tree Annotated in CDKL5_HUMAN
DOID:0050701 electroclinical syndrome 11.1111 6 yes
DOID:0080467 developmental and epileptic encephalopathy 2 11.1111 8 yes
DOID:0112202 developmental and epileptic encephalopathy 11.1111 7 yes
DOID:1826 epilepsy 11.1111 5 yes
DOID:331 central nervous system disease 11.1111 3 yes
DOID:936 brain disease 11.1111 4 yes

All partners

Uniprot ID Details Highest evidence Localizing into PSD HPA (protein expression in neurons)
DLG4_HUMAN [view entry] [view interactions] Low throughput yes yes
MECP2_HUMAN [view interactions] Low throughput no yes
CDKL5_HUMAN [view entry] [view interactions] Low throughput yes yes
SMO_HUMAN [view interactions] Low throughput no yes
SHOT1_HUMAN [view interactions] Low throughput no no
ABL1_HUMAN [view entry] [view interactions] High throughput yes yes
FYN_HUMAN [view entry] [view interactions] High throughput yes no
GRB2_HUMAN [view entry] [view interactions] High throughput yes yes
HDGR3_HUMAN [view interactions] High throughput no yes
KLH20_HUMAN [view interactions] High throughput no yes
MACF1_HUMAN [view entry] [view interactions] High throughput yes yes
PRP16_HUMAN [view interactions] High throughput no yes
SPB8_HUMAN [view interactions] High throughput no no
DHX16_HUMAN [view interactions] High throughput no yes
CDC37_HUMAN [view interactions] High throughput no yes
PTX3_HUMAN [view interactions] High throughput no no
SKIV2_HUMAN [view entry] [view interactions] High throughput yes yes
GOGA2_HUMAN [view entry] [view interactions] High throughput yes yes
MLH1_HUMAN [view interactions] High throughput no yes
TACC3_HUMAN [view entry] [view interactions] High throughput yes yes
SPTN4_HUMAN [view entry] [view interactions] High throughput yes no
KGP2_HUMAN [view entry] [view interactions] High throughput yes yes
MGMT_HUMAN [view interactions] High throughput no no
HDGR2_HUMAN [view interactions] High throughput no yes
GPAM1_HUMAN [view interactions] High throughput no yes
SAR1B_HUMAN [view interactions] High throughput no yes
RABL6_HUMAN [view interactions] High throughput no yes
UBAP2_HUMAN [view interactions] High throughput no yes
TRI25_HUMAN [view interactions] High throughput no yes
VIR_HUMAN [view interactions] High throughput no yes
PP1G_HUMAN [view entry] [view interactions] High throughput yes yes
SC6A4_HUMAN [view entry] [view interactions] High throughput yes no
SNX27_HUMAN [view entry] [view interactions] High throughput yes no
ADDA_HUMAN [view entry] [view interactions] High throughput yes yes
CADH1_HUMAN [view entry] [view interactions] High throughput yes no
RASK_HUMAN [view entry] [view interactions] High throughput yes no
LAMP1_HUMAN [view interactions] High throughput no yes
DNMT1_HUMAN [view interactions] Computational no no