CDKL5
entrez
6792
canonical
uniprot
O76039
canonical
ensembl
ENSG00000008086
resolver
ensp
ENSP00000369325
resolver
ensp
ENSP00000369332
resolver
ensp
ENSP00000485244
resolver
genesymbol
CDKL5
resolver
genesymbol_syn
STK9
resolver
hgnc
HGNC:11411
resolver
uniprot
G9B9X4
resolver
uniprot
Q14198
resolver
uniprot
Q5H985
resolver
uniprot
Q8IYC7
resolver
uniprot
Q9UJL6
resolver
uniprot_entry
CDKL5_HUMAN
resolver
uniprot_sec
G9B9X4
resolver
uniprot_sec
Q14198
resolver
uniprot_sec
Q5H985
resolver
uniprot_sec
Q8IYC7
resolver
uniprot_sec
Q9UJL6
resolver
amino_acid_sequence
MKIPNIGNVMNKFEILGVVGEGAYGVVLKCRHKETHEIVAIKKFKDSEENEEVKETTLRELKMLRTLKQENIVELKEAFRRRGKLYLVFEYVEKNMLELLEEMPNGVPPEKVKSYIYQLIKAIHWCHKNDIVHRDIKPENLLISHNDVLKLCDFGFARNLSEGNNANYTEYVATRWYRSPELLLGAPYGKSVDMWSVGCILGELSDGQPLFPGESEIDQLFTIQKVLGPLPSEQMKLFYSNPRFHGLRFPAVNHPQSLERRYLGILNSVLLDLMKNLLKLDPADRYLTEQCLNHPTFQTQRLLDRSPSRSAKRKPYHVESSTLSNRNQAGKSTALQSHHRSNSKDIQNLSVGLPRADEGLPANESFLNGNLAGASLSPLHTKTYQASSQPGSTSKDLTNNNIPHLLSPKEAKSKTEFDFNIDPKPSEGPGTKYLKSNSRSQQNRHSFMESSQSKAGTLQPNEKQSRHSYIDTIPQSSRSPSYRTKAKSHGALSDSKSVSNLSEARAQIAEPSTSRYFPSSCLDLNSPTSPTPTRHSDTRTLLSPSGRNNRNEGTLDSRRTTTRHSKTMEELKLPEHMDSSHSHSLSAPHESFSYGLGYTSPFSSQQRPHRHSMYVTRDKVRAKGLDGSLSIGQGMAARANSLQLLSPQPGEQLPPEMTVARSSVKETSREGTSSFHTRQKSEGGVYHDPHSDDGTAPKENRHLYNDPVPRRVGSFYRVPSPRPDNSFHENNVSTRVSSLPSESSSGTNHSKRQPAFDPWKSPENISHSEQLKEKEKQGFFRSMKKKKKKSQTVPNSDSPDLLTLQKSIHSASTPSSRPKEWRPEKISDLQTQSQPLKSLRKLLHLSSASNHPASSDPRFQPLTAQQTKNSFSEIRIHPLSQASGGSSNIRQEPAPKGRPALQLPGQMDPGWHVSSVTRSATEGPSYSEQLGAKSGPNGHPYNRTNRSRMPNLNDLKETAL
uniprot
proteins
disease_involvement
DISEASE: 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).; DISEASE: Developmental and epileptic encephalopathy 2 (DEE2) [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, DEE2 and Rett syndrome are considered two distinct entities. {ECO:0000269|PubMed:12736870, ECO:0000269|PubMed:15492925, ECO:0000269|PubMed:15499549, ECO:0000269|PubMed:15689447, ECO:0000269|PubMed:15917271, ECO:0000269|PubMed:16015284, ECO:0000269|PubMed:16611748, ECO:0000269|PubMed:16935860, ECO:0000269|PubMed:17993579, ECO:0000269|PubMed:18790821, ECO:0000269|PubMed:18809835, ECO:0000269|PubMed:19241098, ECO:0000269|PubMed:19253388, ECO:0000269|PubMed:23662938, ECO:0000269|PubMed:23708187, ECO:0000269|PubMed:24564546, ECO:0000269|PubMed:26993267, ECO:0000269|PubMed:27864847}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.11.22
uniprot
proteins
function
FUNCTION: Mediates phosphorylation of MECP2 (PubMed:15917271, PubMed:16935860). May regulate ciliogenesis (PubMed:29420175). {ECO:0000269|PubMed:15917271, ECO:0000269|PubMed:16935860, ECO:0000269|PubMed:29420175}.
uniprot
proteins
mass_dalton
107519
uniprot
proteins
post_translational_modification
PTM: Autophosphorylated.
uniprot
proteins
protein_family
CDC2/CDKX subfamily
uniprot
proteins
protein_family
CMGC Ser/Thr protein kinase family
uniprot
proteins
protein_family
Protein kinase superfamily
uniprot
proteins
pubmed
12736870
uniprot
proteins
pubmed
15492925
uniprot
proteins
pubmed
15499549
uniprot
proteins
pubmed
15689447
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
15917271
uniprot
proteins
pubmed
16015284
uniprot
proteins
pubmed
16611748
uniprot
proteins
pubmed
16935860
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17344846
uniprot
proteins
pubmed
17993579
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
18790821
uniprot
proteins
pubmed
18809835
uniprot
proteins
pubmed
19241098
uniprot
proteins
pubmed
19253388
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21748340
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23662938
uniprot
proteins
pubmed
23708187
uniprot
proteins
pubmed
24564546
uniprot
proteins
pubmed
25969726
uniprot
proteins
pubmed
26993267
uniprot
proteins
pubmed
27864847
uniprot
proteins
pubmed
29420175
uniprot
proteins
pubmed
8864140
uniprot
proteins
pubmed
9721213
uniprot
proteins
sequence_length
960
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16935860}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:29420175}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:29420175}.
uniprot
proteins