Features Interactions Isoform Disease Linear motifs Fingerprint Network All partners

CDKL5_HUMAN

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

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

Molecular function

Term Name % Distance from the top of the tree Annotated in CDKL5_HUMAN
GO:0019900 kinase binding 22.0779 4 no
GO:0043168 anion binding 20.7792 4 yes
GO:0000166 nucleotide binding 14.2857 4 yes
GO:0017076 purine nucleotide binding 14.2857 5 yes
GO:0032555 purine ribonucleotide binding 14.2857 4 yes
GO:0035639 purine ribonucleoside triphosphate binding 14.2857 4 yes
GO:0005524 ATP binding 12.9870 5 yes
GO:0016301 kinase activity 12.9870 4 yes
GO:0030554 adenyl nucleotide binding 12.9870 6 yes
GO:0032559 adenyl ribonucleotide binding 12.9870 5 yes
GO:0016773 phosphotransferase activity, alcohol group as acceptor 11.6883 4 yes
GO:0004674 protein serine/threonine kinase activity 7.7922 4 yes
GO:0106310 protein serine kinase activity 7.7922 4 yes
GO:0031267 small GTPase binding 5.1948 5 yes
GO:0051020 GTPase binding 5.1948 4 yes
GO:0004693 cyclin-dependent protein serine/threonine kinase activity 2.5974 5 yes
GO:0097472 cyclin-dependent protein kinase activity 2.5974 4 yes

Biological process

Term Name % Distance from top the of the tree Annotated in CDKL5_HUMAN
GO:0048522 positive regulation of cellular process 61.0390 4 yes
GO:0010646 regulation of cell communication 53.2468 4 yes
GO:0051128 regulation of cellular component organization 40.2597 4 yes
GO:0009966 regulation of signal transduction 40.2597 4 no
GO:0060255 regulation of macromolecule metabolic process 35.0649 4 no
GO:0008104 protein localization 33.7662 4 no
GO:0022607 cellular component assembly 33.7662 4 no
GO:0031323 regulation of cellular metabolic process 33.7662 4 no
GO:0048523 negative regulation of cellular process 33.7662 4 no
GO:0080090 regulation of primary metabolic process 31.1688 4 no
GO:0006996 organelle organization 28.5714 4 no
GO:0009893 positive regulation of metabolic process 28.5714 4 no
GO:0048584 positive regulation of response to stimulus 28.5714 4 no
GO:0010604 positive regulation of macromolecule metabolic process 27.2727 5 no
GO:0010647 positive regulation of cell communication 27.2727 5 no
GO:0023056 positive regulation of signaling 27.2727 4 no
GO:0051049 regulation of transport 27.2727 4 no
GO:0050804 modulation of chemical synaptic transmission 25.9740 5 yes
GO:0051094 positive regulation of developmental process 25.9740 4 yes
GO:0051130 positive regulation of cellular component organization 25.9740 5 yes
GO:0099177 regulation of trans-synaptic signaling 25.9740 4 yes
GO:0009889 regulation of biosynthetic process 25.9740 4 no
GO:0010556 regulation of macromolecule biosynthetic process 25.9740 5 no
GO:0031326 regulation of cellular biosynthetic process 25.9740 5 no
GO:0051246 regulation of protein metabolic process 25.9740 5 no
GO:0051240 positive regulation of multicellular organismal process 24.6753 4 yes
GO:2000026 regulation of multicellular organismal development 24.6753 4 yes
GO:0031325 positive regulation of cellular metabolic process 24.6753 5 no
GO:0009967 positive regulation of signal transduction 24.6753 5 no
GO:0022603 regulation of anatomical structure morphogenesis 23.3766 4 yes
GO:0044087 regulation of cellular component biogenesis 23.3766 4 yes
GO:0045595 regulation of cell differentiation 22.0779 4 yes
GO:0034330 cell junction organization 22.0779 4 no
GO:0010468 regulation of gene expression 22.0779 6 no
GO:0060341 regulation of cellular localization 22.0779 4 no
GO:0031344 regulation of cell projection organization 20.7792 5 yes
GO:0007010 cytoskeleton organization 20.7792 5 no
GO:1902531 regulation of intracellular signal transduction 20.7792 5 no
GO:0033043 regulation of organelle organization 19.4805 5 yes
GO:0120035 regulation of plasma membrane bounded cell projection organization 19.4805 6 yes
GO:0010975 regulation of neuron projection development 18.1818 7 yes
GO:0050807 regulation of synapse organization 18.1818 5 yes
GO:0051960 regulation of nervous system development 18.1818 5 yes
GO:0006796 phosphate-containing compound metabolic process 16.8831 4 yes
GO:0036211 protein modification process 16.8831 4 yes
GO:0043412 macromolecule modification 16.8831 4 yes
GO:0060284 regulation of cell development 16.8831 5 yes
GO:0045597 positive regulation of cell differentiation 15.5844 5 yes
GO:0051962 positive regulation of nervous system development 15.5844 5 yes
GO:0043085 positive regulation of catalytic activity 14.2857 4 yes
GO:0050767 regulation of neurogenesis 14.2857 6 yes
GO:0010720 positive regulation of cell development 12.9870 6 yes
GO:0031346 positive regulation of cell projection organization 12.9870 6 yes
GO:0050769 positive regulation of neurogenesis 11.6883 6 yes
GO:0099175 regulation of postsynapse organization 11.6883 6 yes
GO:0006468 protein phosphorylation 10.3896 5 yes
GO:0016310 phosphorylation 10.3896 5 yes
GO:0022604 regulation of cell morphogenesis 10.3896 5 yes
GO:0048638 regulation of developmental growth 10.3896 4 yes
GO:0050773 regulation of dendrite development 10.3896 4 yes
GO:0051336 regulation of hydrolase activity 10.3896 4 yes
GO:0001558 regulation of cell growth 7.7922 4 yes
GO:0001764 neuron migration 7.7922 4 yes
GO:0048814 regulation of dendrite morphogenesis 7.7922 5 yes
GO:0051345 positive regulation of hydrolase activity 7.7922 5 yes
GO:0030516 regulation of axon extension 6.4935 5 yes
GO:0045927 positive regulation of growth 6.4935 4 yes
GO:0046777 protein autophosphorylation 6.4935 6 yes
GO:0048639 positive regulation of developmental growth 6.4935 5 yes
GO:0050770 regulation of axonogenesis 6.4935 5 yes
GO:0061387 regulation of extent of cell growth 6.4935 5 yes
GO:1902115 regulation of organelle assembly 6.4935 5 yes
GO:0010770 positive regulation of cell morphogenesis 5.1948 6 yes
GO:0050775 positive regulation of dendrite morphogenesis 5.1948 6 yes
GO:0060998 regulation of dendritic spine development 5.1948 4 yes
GO:0060999 positive regulation of dendritic spine development 5.1948 5 yes
GO:0030307 positive regulation of cell growth 3.8961 5 yes
GO:0043087 regulation of GTPase activity 3.8961 5 yes
GO:0045773 positive regulation of axon extension 3.8961 6 yes
GO:0050772 positive regulation of axonogenesis 3.8961 6 yes
GO:0060491 regulation of cell projection assembly 3.8961 5 yes
GO:0120032 regulation of plasma membrane bounded cell projection assembly 3.8961 6 yes
GO:0043547 positive regulation of GTPase activity 2.5974 6 yes
GO:1902017 regulation of cilium assembly 2.5974 6 yes

Disease

No data found.

Uniprot ID Details Highest evidence Localizing into PSD HPA (protein expression in neurons)
GEPH_HUMAN [view entry] [view interactions] Low throughput yes yes
ARHG9_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 entry] [view interactions] Low throughput yes 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
DLG4_HUMAN [view entry] [view interactions] High throughput yes yes
DHX16_HUMAN [view interactions] High throughput no yes
SPB8_HUMAN [view interactions] High throughput no no
PRP16_HUMAN [view interactions] High throughput no yes
MACF1_HUMAN [view entry] [view interactions] High throughput yes yes
KLH20_HUMAN [view interactions] High throughput no yes
HDGR3_HUMAN [view interactions] High throughput no yes
PTX3_HUMAN [view interactions] High throughput no no
CDC37_HUMAN [view interactions] High throughput no yes
SKI2_HUMAN [view interactions] High throughput no 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
ZRAN1_HUMAN [view interactions] High throughput no yes
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 entry] [view interactions] High throughput yes yes
AR13B_HUMAN [view interactions] High throughput no yes
SANBR_HUMAN [view interactions] High throughput no yes
RTRAF_HUMAN [view interactions] High throughput no yes
AGRB3_HUMAN [view entry] [view interactions] High throughput yes no
AGRL3_HUMAN [view entry] [view interactions] High throughput yes yes
AFAD_HUMAN [view entry] [view interactions] High throughput yes yes
ANS1B_HUMAN [view entry] [view interactions] High throughput yes yes
RHG39_HUMAN [view entry] [view interactions] High throughput yes no
ASTN1_HUMAN [view entry] [view interactions] High throughput yes no
ATX2L_HUMAN [view interactions] High throughput no no
BAIP2_HUMAN [view entry] [view interactions] High throughput yes yes
CACB4_HUMAN [view entry] [view interactions] High throughput yes yes
CP131_HUMAN [view interactions] High throughput no no
CNKR2_HUMAN [view entry] [view interactions] High throughput yes no
KC1E_HUMAN [view entry] [view interactions] High throughput yes yes
CTNB1_HUMAN [view entry] [view interactions] High throughput yes yes
CTND2_HUMAN [view entry] [view interactions] High throughput yes no
DAB2P_HUMAN [view entry] [view interactions] High throughput yes no
DLG2_HUMAN [view entry] [view interactions] High throughput yes yes
DLG3_HUMAN [view entry] [view interactions] High throughput yes yes
DLGP1_HUMAN [view entry] [view interactions] High throughput yes no
DLGP2_HUMAN [view entry] [view interactions] High throughput yes no
DLGP3_HUMAN [view entry] [view interactions] High throughput yes yes
DLGP4_HUMAN [view entry] [view interactions] High throughput yes yes
EIF3C_HUMAN [view entry] [view interactions] High throughput yes yes
EIFCL_HUMAN [view interactions] High throughput no yes
ELFN1_HUMAN [view entry] [view interactions] High throughput yes no
PPR29_HUMAN [view entry] [view interactions] High throughput yes yes
ERBIN_HUMAN [view entry] [view interactions] High throughput yes yes
FBX41_HUMAN [view entry] [view interactions] High throughput yes no
G3BP2_HUMAN [view entry] [view interactions] High throughput yes yes
GBRA1_HUMAN [view entry] [view interactions] High throughput yes yes
GBRA2_HUMAN [view entry] [view interactions] High throughput yes no
AJM1_HUMAN [view interactions] High throughput no no
GRIA2_HUMAN [view entry] [view interactions] High throughput yes yes
NMDZ1_HUMAN [view entry] [view interactions] High throughput yes yes
NMDE2_HUMAN [view entry] [view interactions] High throughput yes no
GSTM1_HUMAN [view interactions] High throughput no yes
HIP1R_HUMAN [view entry] [view interactions] High throughput yes yes
HS90B_HUMAN [view entry] [view interactions] High throughput yes yes
IQEC1_HUMAN [view entry] [view interactions] High throughput yes yes
IQEC2_HUMAN [view entry] [view interactions] High throughput yes no
KCNB1_HUMAN [view entry] [view interactions] High throughput yes yes
KCNB2_HUMAN [view interactions] High throughput no no
LRC4B_HUMAN [view entry] [view interactions] High throughput yes no
LRRC7_HUMAN [view entry] [view interactions] High throughput yes no
LZTS3_HUMAN [view entry] [view interactions] High throughput yes yes
MP2K4_HUMAN [view interactions] High throughput no yes
MINK1_HUMAN [view entry] [view interactions] High throughput yes yes
NUFP2_HUMAN [view interactions] High throughput no no
PCKGM_HUMAN [view interactions] High throughput no no
PCM1_HUMAN [view interactions] High throughput no yes
MYOME_HUMAN [view interactions] High throughput no no
PLPR4_HUMAN [view entry] [view interactions] High throughput yes no
PPIA_HUMAN [view entry] [view interactions] High throughput yes yes
PP1A_HUMAN [view entry] [view interactions] High throughput yes yes
NEB2_HUMAN [view entry] [view interactions] High throughput yes yes
PRC2C_HUMAN [view interactions] High throughput no yes
PSD3_HUMAN [view entry] [view interactions] High throughput yes yes
RBGP1_HUMAN [view interactions] High throughput no yes
RBP2_HUMAN [view interactions] High throughput no yes
RICTR_HUMAN [view interactions] High throughput no yes
RP3A_HUMAN [view entry] [view interactions] High throughput yes yes
RL14_HUMAN [view entry] [view interactions] High throughput yes yes
SGIP1_HUMAN [view entry] [view interactions] High throughput yes yes
SH3K1_HUMAN [view entry] [view interactions] High throughput yes yes
SHAN2_HUMAN [view entry] [view interactions] High throughput yes yes
MOT2_HUMAN [view entry] [view interactions] High throughput yes yes
SLIK5_HUMAN [view entry] [view interactions] High throughput yes no
SRBS1_HUMAN [view entry] [view interactions] High throughput yes yes
STAU2_HUMAN [view entry] [view interactions] High throughput yes yes
SYGP1_HUMAN [view entry] [view interactions] High throughput yes yes
ZO1_HUMAN [view entry] [view interactions] High throughput yes no
TNIK_HUMAN [view entry] [view interactions] High throughput yes yes
UBP2L_HUMAN [view interactions] High throughput no yes
QCR8_HUMAN [view interactions] High throughput no yes
XRN1_HUMAN [view interactions] High throughput no yes
YTHD1_HUMAN [view interactions] High throughput no no