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Entry version 191 (08 May 2019)
Sequence version 1 (01 Nov 1998)
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Protein

Cyclin-dependent kinase-like 5

Gene

CDKL5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Mediates phosphorylation of MECP2 (PubMed:15917271, PubMed:16935860). May regulate ciliogenesis (PubMed:29420175).3 Publications

Caution

It is uncertain whether Met-1 or Met-10 is the initiator.Curated

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei42ATPPROSITE-ProRule annotation1
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei135Proton acceptorPROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi19 – 27ATPPROSITE-ProRule annotation9

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionKinase, Serine/threonine-protein kinase, Transferase
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
2.7.11.22 2681

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
O76039

SIGNOR Signaling Network Open Resource

More...
SIGNORi
O76039

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Cyclin-dependent kinase-like 5Curated (EC:2.7.11.22)
Alternative name(s):
Serine/threonine-protein kinase 9
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CDKL5Imported
Synonyms:STK9
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:11411 CDKL5

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
300203 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O76039

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

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)18 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:300672
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_05802240A → V in EIEE2; causes mislocalization of the protein in the cytoplasm. 2 PublicationsCorresponds to variant dbSNP:rs122460159EnsemblClinVar.1
Natural variantiVAR_05802372I → N in EIEE2. 1 PublicationCorresponds to variant dbSNP:rs62641235EnsemblClinVar.1
Natural variantiVAR_05802472I → T in EIEE2. 1 PublicationCorresponds to variant dbSNP:rs62641235EnsemblClinVar.1
Natural variantiVAR_058025127H → R in EIEE2. 1 PublicationCorresponds to variant dbSNP:rs267608468EnsemblClinVar.1
Natural variantiVAR_078625145H → Y in EIEE2; unknown pathological significance. 1 Publication1
Natural variantiVAR_023560152C → F in EIEE2; affect activity; causes mislocalization of the protein in the cytoplasm. 2 PublicationsCorresponds to variant dbSNP:rs122460157EnsemblClinVar.1
Natural variantiVAR_023561175R → S in EIEE2; affect activity; does not affect the cellular distribution of the protein. 2 PublicationsCorresponds to variant dbSNP:rs61749700EnsemblClinVar.1
Natural variantiVAR_058026178R → P in EIEE2. 1 PublicationCorresponds to variant dbSNP:rs267606715EnsemblClinVar.1
Natural variantiVAR_071103178R → Q in EIEE2. 3 PublicationsCorresponds to variant dbSNP:rs267606715EnsemblClinVar.1
Natural variantiVAR_078712178R → W in EIEE2. 1 PublicationCorresponds to variant dbSNP:rs267608493EnsemblClinVar.1
Natural variantiVAR_037635180P → L in EIEE2. 1 PublicationCorresponds to variant dbSNP:rs61749704EnsemblClinVar.1
Natural variantiVAR_078626182L → P in EIEE2. 1 Publication1
Natural variantiVAR_078219196S → L in EIEE2. 1 PublicationCorresponds to variant dbSNP:rs267608501EnsemblClinVar.1
Natural variantiVAR_078627207G → E in EIEE2. 1 Publication1
Natural variantiVAR_058027220L → P in EIEE2; causes mislocalization of the protein in the cytoplasm. 2 PublicationsCorresponds to variant dbSNP:rs267608511EnsemblClinVar.1
Natural variantiVAR_058028288T → I in EIEE2. 1 PublicationCorresponds to variant dbSNP:rs267606713EnsemblClinVar.1
Natural variantiVAR_058029291C → Y in EIEE2. 1 PublicationCorresponds to variant dbSNP:rs267606714EnsemblClinVar.1
Natural variantiVAR_058030399N → T in EIEE2. 1 PublicationCorresponds to variant dbSNP:rs267608611EnsemblClinVar.1
Natural variantiVAR_078628581H → Y in EIEE2; unknown pathological significance. 1 Publication1
Natural variantiVAR_058032718V → M in EIEE2. 2 PublicationsCorresponds to variant dbSNP:rs267608653EnsemblClinVar.1
Natural variantiVAR_078714726 – 1030Missing in EIEE2. 1 PublicationAdd BLAST305
Natural variantiVAR_037636793V → A in EIEE2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs62643617EnsemblClinVar.1
Natural variantiVAR_078630858R → C in EIEE2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs773760466EnsemblClinVar.1
Natural variantiVAR_078220994G → R in EIEE2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs866859766EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Epilepsy, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
6792

MalaCards human disease database

More...
MalaCardsi
CDKL5
MIMi300672 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000008086

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
3095 Atypical Rett syndrome
505652 CDKL5-related epileptic encephalopathy
1934 Early infantile epileptic encephalopathy
3451 West syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA36218

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL1163112

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CDKL5

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000858261 – 1030Cyclin-dependent kinase-like 5Add BLAST1030

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei407PhosphoserineCombined sources1
Modified residuei479PhosphoserineCombined sources1
Modified residuei720PhosphoserineCombined sources1
Modified residuei761PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Autophosphorylated.

Keywords - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O76039

MaxQB - The MaxQuant DataBase

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MaxQBi
O76039

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
O76039

PeptideAtlas

More...
PeptideAtlasi
O76039

PRoteomics IDEntifications database

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PRIDEi
O76039

ProteomicsDB human proteome resource

More...
ProteomicsDBi
50359

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O76039

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
O76039

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000008086 Expressed in 195 organ(s), highest expression level in dorsolateral prefrontal cortex

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O76039 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O76039 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB011577
HPA002847

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with MECP2.1 Publication

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
112668, 19 interactors

Protein interaction database and analysis system

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IntActi
O76039, 8 interactors

Molecular INTeraction database

More...
MINTi
O76039

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000369325

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
O76039

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11030
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4BGQX-ray2.00A1-303[»]

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
O76039

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini13 – 297Protein kinasePROSITE-ProRule annotationAdd BLAST285

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi784 – 789Poly-Lys6

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0593 Eukaryota
ENOG410XNSW LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157355

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000049181

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O76039

KEGG Orthology (KO)

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KOi
K08824

Identification of Orthologs from Complete Genome Data

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OMAi
HPKNYQP

Database of Orthologous Groups

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OrthoDBi
398098at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O76039

TreeFam database of animal gene trees

More...
TreeFami
TF101032

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR011009 Kinase-like_dom_sf
IPR000719 Prot_kinase_dom
IPR017441 Protein_kinase_ATP_BS
IPR008271 Ser/Thr_kinase_AS

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00069 Pkinase, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00220 S_TKc, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF56112 SSF56112, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00107 PROTEIN_KINASE_ATP, 1 hit
PS50011 PROTEIN_KINASE_DOM, 1 hit
PS00108 PROTEIN_KINASE_ST, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O76039-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MKIPNIGNVM NKFEILGVVG EGAYGVVLKC RHKETHEIVA IKKFKDSEEN
60 70 80 90 100
EEVKETTLRE LKMLRTLKQE NIVELKEAFR RRGKLYLVFE YVEKNMLELL
110 120 130 140 150
EEMPNGVPPE KVKSYIYQLI KAIHWCHKND IVHRDIKPEN LLISHNDVLK
160 170 180 190 200
LCDFGFARNL SEGNNANYTE YVATRWYRSP ELLLGAPYGK SVDMWSVGCI
210 220 230 240 250
LGELSDGQPL FPGESEIDQL FTIQKVLGPL PSEQMKLFYS NPRFHGLRFP
260 270 280 290 300
AVNHPQSLER RYLGILNSVL LDLMKNLLKL DPADRYLTEQ CLNHPTFQTQ
310 320 330 340 350
RLLDRSPSRS AKRKPYHVES STLSNRNQAG KSTALQSHHR SNSKDIQNLS
360 370 380 390 400
VGLPRADEGL PANESFLNGN LAGASLSPLH TKTYQASSQP GSTSKDLTNN
410 420 430 440 450
NIPHLLSPKE AKSKTEFDFN IDPKPSEGPG TKYLKSNSRS QQNRHSFMES
460 470 480 490 500
SQSKAGTLQP NEKQSRHSYI DTIPQSSRSP SYRTKAKSHG ALSDSKSVSN
510 520 530 540 550
LSEARAQIAE PSTSRYFPSS CLDLNSPTSP TPTRHSDTRT LLSPSGRNNR
560 570 580 590 600
NEGTLDSRRT TTRHSKTMEE LKLPEHMDSS HSHSLSAPHE SFSYGLGYTS
610 620 630 640 650
PFSSQQRPHR HSMYVTRDKV RAKGLDGSLS IGQGMAARAN SLQLLSPQPG
660 670 680 690 700
EQLPPEMTVA RSSVKETSRE GTSSFHTRQK SEGGVYHDPH SDDGTAPKEN
710 720 730 740 750
RHLYNDPVPR RVGSFYRVPS PRPDNSFHEN NVSTRVSSLP SESSSGTNHS
760 770 780 790 800
KRQPAFDPWK SPENISHSEQ LKEKEKQGFF RSMKKKKKKS QTVPNSDSPD
810 820 830 840 850
LLTLQKSIHS ASTPSSRPKE WRPEKISDLQ TQSQPLKSLR KLLHLSSASN
860 870 880 890 900
HPASSDPRFQ PLTAQQTKNS FSEIRIHPLS QASGGSSNIR QEPAPKGRPA
910 920 930 940 950
LQLPDGGCDG RRQRHHSGPQ DRRFMLRTTE QQGEYFCCGD PKKPHTPCVP
960 970 980 990 1000
NRALHRPISS PAPYPVLQVR GTSMCPTLQV RGTDAFSCPT QQSGFSFFVR
1010 1020 1030
HVMREALIHR AQVNQAALLT YHENAALTGK
Length:1,030
Mass (Da):115,538
Last modified:November 1, 1998 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i8A1C9C438610EF08
GO
Isoform 2 (identifier: O76039-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     905-1030: DGGCDGRRQR...YHENAALTGK → GQMDPGWHVS...NLNDLKETAL

Note: Predominant transcript in brain.
Show »
Length:960
Mass (Da):107,519
Checksum:i6E955E0B40DBC1B8
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A096LNR9A0A096LNR9_HUMAN
Cyclin-dependent kinase-like 5
CDKL5
784Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GUM4A0A1B0GUM4_HUMAN
Cyclin-dependent kinase-like 5
CDKL5
881Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GTX4A0A1B0GTX4_HUMAN
Cyclin-dependent kinase-like 5
CDKL5
471Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A096LP32A0A096LP32_HUMAN
Cyclin-dependent kinase-like 5
CDKL5
68Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A096LPG3A0A096LPG3_HUMAN
Cyclin-dependent kinase-like 5
CDKL5
60Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A096LPI4A0A096LPI4_HUMAN
Cyclin-dependent kinase-like 5
CDKL5
17Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence CAA61445 differs from that shown. Reason: Frameshift at position 415.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti339 – 340HR → GT in CAA61445 (PubMed:8864140).Curated2
Sequence conflicti541L → W in CAA61445 (PubMed:8864140).Curated1
Sequence conflicti731 – 764Missing in CAA61445 (PubMed:8864140).CuratedAdd BLAST34

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05802240A → V in EIEE2; causes mislocalization of the protein in the cytoplasm. 2 PublicationsCorresponds to variant dbSNP:rs122460159EnsemblClinVar.1
Natural variantiVAR_05802372I → N in EIEE2. 1 PublicationCorresponds to variant dbSNP:rs62641235EnsemblClinVar.1
Natural variantiVAR_05802472I → T in EIEE2. 1 PublicationCorresponds to variant dbSNP:rs62641235EnsemblClinVar.1
Natural variantiVAR_058025127H → R in EIEE2. 1 PublicationCorresponds to variant dbSNP:rs267608468EnsemblClinVar.1
Natural variantiVAR_078625145H → Y in EIEE2; unknown pathological significance. 1 Publication1
Natural variantiVAR_023560152C → F in EIEE2; affect activity; causes mislocalization of the protein in the cytoplasm. 2 PublicationsCorresponds to variant dbSNP:rs122460157EnsemblClinVar.1
Natural variantiVAR_023561175R → S in EIEE2; affect activity; does not affect the cellular distribution of the protein. 2 PublicationsCorresponds to variant dbSNP:rs61749700EnsemblClinVar.1
Natural variantiVAR_058026178R → P in EIEE2. 1 PublicationCorresponds to variant dbSNP:rs267606715EnsemblClinVar.1
Natural variantiVAR_071103178R → Q in EIEE2. 3 PublicationsCorresponds to variant dbSNP:rs267606715EnsemblClinVar.1
Natural variantiVAR_078712178R → W in EIEE2. 1 PublicationCorresponds to variant dbSNP:rs267608493EnsemblClinVar.1
Natural variantiVAR_037635180P → L in EIEE2. 1 PublicationCorresponds to variant dbSNP:rs61749704EnsemblClinVar.1
Natural variantiVAR_078626182L → P in EIEE2. 1 Publication1
Natural variantiVAR_078219196S → L in EIEE2. 1 PublicationCorresponds to variant dbSNP:rs267608501EnsemblClinVar.1
Natural variantiVAR_078627207G → E in EIEE2. 1 Publication1
Natural variantiVAR_058027220L → P in EIEE2; causes mislocalization of the protein in the cytoplasm. 2 PublicationsCorresponds to variant dbSNP:rs267608511EnsemblClinVar.1
Natural variantiVAR_058028288T → I in EIEE2. 1 PublicationCorresponds to variant dbSNP:rs267606713EnsemblClinVar.1
Natural variantiVAR_058029291C → Y in EIEE2. 1 PublicationCorresponds to variant dbSNP:rs267606714EnsemblClinVar.1
Natural variantiVAR_036578368N → H in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_041997374A → T in a metastatic melanoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_058030399N → T in EIEE2. 1 PublicationCorresponds to variant dbSNP:rs267608611EnsemblClinVar.1
Natural variantiVAR_058031444R → C1 PublicationCorresponds to variant dbSNP:rs61753977EnsemblClinVar.1
Natural variantiVAR_041998574P → Q in an ovarian serous carcinoma sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs199897804Ensembl.1
Natural variantiVAR_078628581H → Y in EIEE2; unknown pathological significance. 1 Publication1
Natural variantiVAR_078713647P → L Probable disease-associated mutation found in a patient with autism spectrum disorder. 1 Publication1
Natural variantiVAR_058032718V → M in EIEE2. 2 PublicationsCorresponds to variant dbSNP:rs267608653EnsemblClinVar.1
Natural variantiVAR_078714726 – 1030Missing in EIEE2. 1 PublicationAdd BLAST305
Natural variantiVAR_041999734T → A1 PublicationCorresponds to variant dbSNP:rs55803460EnsemblClinVar.1
Natural variantiVAR_023562791Q → P4 PublicationsCorresponds to variant dbSNP:rs35478150EnsemblClinVar.1
Natural variantiVAR_037636793V → A in EIEE2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs62643617EnsemblClinVar.1
Natural variantiVAR_078629855 – 1030Missing Probable disease-associated mutation found in a patient with infatile spasms. 1 PublicationAdd BLAST176
Natural variantiVAR_078630858R → C in EIEE2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs773760466EnsemblClinVar.1
Natural variantiVAR_058033923R → C1 PublicationCorresponds to variant dbSNP:rs267608664EnsemblClinVar.1
Natural variantiVAR_078220994G → R in EIEE2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs866859766EnsemblClinVar.1
Natural variantiVAR_037637999V → M. Corresponds to variant dbSNP:rs35693326EnsemblClinVar.1
Natural variantiVAR_0420001023E → G1 PublicationCorresponds to variant dbSNP:rs34166184Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_044082905 – 1030DGGCD…ALTGK → GQMDPGWHVSSVTRSATEGP SYSEQLGAKSGPNGHPYNRT NRSRMPNLNDLKETAL in isoform 2. 1 PublicationAdd BLAST126

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
Y15057 mRNA Translation: CAA75342.1
AY217744 mRNA Translation: AAO64440.1
HQ171445 mRNA Translation: ADN38258.1
Z92542 Genomic DNA No translation available.
AL109798 Genomic DNA No translation available.
X89059 mRNA Translation: CAA61445.1 Frameshift.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS14186.1 [O76039-1]
CCDS83458.1 [O76039-2]

Protein sequence database of the Protein Information Resource

More...
PIRi
S58296

NCBI Reference Sequences

More...
RefSeqi
NP_001032420.1, NM_001037343.1 [O76039-1]
NP_001310218.1, NM_001323289.1 [O76039-2]
NP_003150.1, NM_003159.2 [O76039-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000379989; ENSP00000369325; ENSG00000008086 [O76039-1]
ENST00000379996; ENSP00000369332; ENSG00000008086 [O76039-1]
ENST00000623535; ENSP00000485244; ENSG00000008086 [O76039-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
6792

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:6792

UCSC genome browser

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UCSCi
uc004cym.4 human [O76039-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y15057 mRNA Translation: CAA75342.1
AY217744 mRNA Translation: AAO64440.1
HQ171445 mRNA Translation: ADN38258.1
Z92542 Genomic DNA No translation available.
AL109798 Genomic DNA No translation available.
X89059 mRNA Translation: CAA61445.1 Frameshift.
CCDSiCCDS14186.1 [O76039-1]
CCDS83458.1 [O76039-2]
PIRiS58296
RefSeqiNP_001032420.1, NM_001037343.1 [O76039-1]
NP_001310218.1, NM_001323289.1 [O76039-2]
NP_003150.1, NM_003159.2 [O76039-1]

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4BGQX-ray2.00A1-303[»]
SMRiO76039
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112668, 19 interactors
IntActiO76039, 8 interactors
MINTiO76039
STRINGi9606.ENSP00000369325

Chemistry databases

BindingDBiO76039
ChEMBLiCHEMBL1163112

PTM databases

iPTMnetiO76039
PhosphoSitePlusiO76039

Polymorphism and mutation databases

BioMutaiCDKL5

Proteomic databases

jPOSTiO76039
MaxQBiO76039
PaxDbiO76039
PeptideAtlasiO76039
PRIDEiO76039
ProteomicsDBi50359

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
6792
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000379989; ENSP00000369325; ENSG00000008086 [O76039-1]
ENST00000379996; ENSP00000369332; ENSG00000008086 [O76039-1]
ENST00000623535; ENSP00000485244; ENSG00000008086 [O76039-2]
GeneIDi6792
KEGGihsa:6792
UCSCiuc004cym.4 human [O76039-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
6792
DisGeNETi6792

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CDKL5
HGNCiHGNC:11411 CDKL5
HPAiCAB011577
HPA002847
MalaCardsiCDKL5
MIMi300203 gene
300672 phenotype
neXtProtiNX_O76039
OpenTargetsiENSG00000008086
Orphaneti3095 Atypical Rett syndrome
505652 CDKL5-related epileptic encephalopathy
1934 Early infantile epileptic encephalopathy
3451 West syndrome
PharmGKBiPA36218

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0593 Eukaryota
ENOG410XNSW LUCA
GeneTreeiENSGT00940000157355
HOGENOMiHOG000049181
InParanoidiO76039
KOiK08824
OMAiHPKNYQP
OrthoDBi398098at2759
PhylomeDBiO76039
TreeFamiTF101032

Enzyme and pathway databases

BRENDAi2.7.11.22 2681
SignaLinkiO76039
SIGNORiO76039

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
CDKL5 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
CDKL5

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
6792

Protein Ontology

More...
PROi
PR:O76039

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000008086 Expressed in 195 organ(s), highest expression level in dorsolateral prefrontal cortex
ExpressionAtlasiO76039 baseline and differential
GenevisibleiO76039 HS

Family and domain databases

InterProiView protein in InterPro
IPR011009 Kinase-like_dom_sf
IPR000719 Prot_kinase_dom
IPR017441 Protein_kinase_ATP_BS
IPR008271 Ser/Thr_kinase_AS
PfamiView protein in Pfam
PF00069 Pkinase, 1 hit
SMARTiView protein in SMART
SM00220 S_TKc, 1 hit
SUPFAMiSSF56112 SSF56112, 1 hit
PROSITEiView protein in PROSITE
PS00107 PROTEIN_KINASE_ATP, 1 hit
PS50011 PROTEIN_KINASE_DOM, 1 hit
PS00108 PROTEIN_KINASE_ST, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCDKL5_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O76039
Secondary accession number(s): G9B9X4
, Q14198, Q5H985, Q8IYC7, Q9UJL6
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: November 1, 1998
Last modified: May 8, 2019
This is version 191 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. Human and mouse protein kinases
    Human and mouse protein kinases: classification and index
  7. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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