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UniProtKB - Q9UPZ9 (CILK1_HUMAN)

Entry version 183 (23 Feb 2022)
Sequence version 1 (01 May 2000)
Previous versions | rss
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Protein

Serine/threonine-protein kinase ICK

Gene

CILK1

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

Required for ciliogenesis (PubMed:24797473).

Phosphorylates KIF3A (By similarity).

Involved in the control of ciliary length (PubMed:24853502).

Regulates the ciliary localization of SHH pathway components as well as the localization of IFT components at ciliary tips (By similarity).

May play a key role in the development of multiple organ systems and particularly in cardiac development (By similarity).

Regulates intraflagellar transport (IFT) speed and negatively regulates cilium length in a cAMP and mTORC1 signaling-dependent manner and this regulation requires its kinase activity (By similarity).

By similarity2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Mg2+1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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 sitei33ATPPROSITE-ProRule annotation1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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 sitei125Proton acceptorPROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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 bindingi10 – 18ATPPROSITE-ProRule annotationBy similarity9

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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 functionDevelopmental protein, Kinase, Serine/threonine-protein kinase, Transferase
Biological processCilium biogenesis/degradation
LigandATP-binding, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9UPZ9

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

More...SignaLinki		Q9UPZ9

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q9UPZ9

<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%5Fand%5Ftaxonomy%5Fsection">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:
Serine/threonine-protein kinase ICK (EC:2.7.11.11 Publication)
Alternative name(s):
Ciliogenesis associated kinase 1Curated
Intestinal cell kinase
Short name:
hICK
Laryngeal cancer kinase 2
Short name:
LCK2
MAK-related kinase
Short name:
MRK
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:CILK1
Synonyms:ICK, KIAA0936
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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)Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 6

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:21219, CILK1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		612325, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9UPZ9

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000112144

<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

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

Endocrine-cerebroosteodysplasia (ECO)4 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionPreviously unidentified neonatal lethal recessive disorder with multiple anomalies involving the endocrine, cerebral, and skeletal systems.
Related information in OMIM
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_057994272R → Q in ECO; significantly impairs kinase activity; decreased localization at the ciliary tips; impaired ciliogenesis; results in abnormally elongated cilia; impairs mitosis, cell-cycle exit and radial neuroblast migration, while promoting apoptosis, when tested in a heterologous system; loss of nuclear localization. 4 PublicationsCorresponds to variant dbSNP:rs118203918EnsemblClinVar.1
Juvenile myoclonic epilepsy 10 (EJM10)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of juvenile myoclonic epilepsy, a subtype of idiopathic generalized epilepsy generally characterized by afebrile seizures with onset in adolescence (rather than in childhood) and myoclonic jerks, which usually occur after awakening and are triggered by sleep deprivation and fatigue. EJM10 is an autosomal dominant seizure disorder with variable manifestations, even within families. Affected individuals have febrile, myoclonic, tonic-clonic, or absence seizures, although several seizure types can occur in the same individual. Some patients have onset of seizures in the first years of life.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080554102I → L in EJM10; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs748539319EnsemblClinVar.1
Natural variantiVAR_080555220K → E in EJM10; impairs mitosis, cell-cycle exit and radial neuroblast migration, while promoting apoptosis, when tested in a heterologous system. 1 Publication1
Natural variantiVAR_080556305K → T in EJM10; impairs mitosis, cell-cycle exit and radial neuroblast migration, while promoting apoptosis, when tested in a heterologous system. 1 PublicationCorresponds to variant dbSNP:rs765078446EnsemblClinVar.1
Natural variantiVAR_080557369 – 373Missing in EJM10; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs201964851Ensembl.5
Natural variantiVAR_042005615A → T in EJM10; unknown pathological significance; impairs mitosis, cell-cycle exit and radial neuroblast migration, while promoting apoptosis, when tested in a heterologous system. 2 PublicationsCorresponds to variant dbSNP:rs55932059EnsemblClinVar.1
Natural variantiVAR_080558632Missing in EJM10; impairs mitosis, cell-cycle exit and radial neuroblast migration, while promoting apoptosis, when tested in a heterologous system. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi33K → R: Loss of activity and autophosphorylation; when associated with R-34; R-36 and R-38. 1 Publication1
Mutagenesisi34K → R: Loss of activity and autophosphorylation; when associated with R-33; R-36 and R-38. 1 Publication1
Mutagenesisi36K → R: Loss of activity and autophosphorylation; when associated with R-33; R-34 and R-38. 1 Publication1
Mutagenesisi38K → R: Loss of activity and autophosphorylation; when associated with R-33; R-34 and R-36. 1 Publication1
Mutagenesisi157T → A: Reduction of activity and loss of autophosphorylation. Loss of activity and autophosphorylation; when associated with F-159. 1 Publication1
Mutagenesisi159Y → F: Reduction of activity and loss of autophosphorylation. Loss of activity and autophosphorylation; when associated with A-157. 1 Publication1

Keywords - Diseasei

Disease variant, Epilepsy

Organism-specific databases

DisGeNET

More...DisGeNETi		22858

MalaCards human disease database

More...MalaCardsi		CILK1
MIMi612651, phenotype
617924, phenotype

Open Targets

More...OpenTargetsi		ENSG00000112144

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

More...Orphaneti		199332, Endocrine-cerebro-osteodysplasia syndrome
307, Juvenile myoclonic epilepsy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134894544

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9UPZ9, Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL1163126

Drug and drug target database

More...DrugBanki		DB12010, Fostamatinib

DrugCentral

More...DrugCentrali		Q9UPZ9

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ICK

Domain mapping of disease mutations (DMDM)

More...DMDMi		48428273

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000860071 – 632Serine/threonine-protein kinase ICKAdd BLAST632

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 residuei157Phosphothreonine1 Publication1
Modified residuei159Phosphotyrosine1 Publication1
Modified residuei161PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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 on serine and threonine residues. Phosphorylation at Thr-157 increases kinase activity.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9UPZ9

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9UPZ9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9UPZ9

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

More...PaxDbi		Q9UPZ9

PeptideAtlas

More...PeptideAtlasi		Q9UPZ9

PRoteomics IDEntifications database

More...PRIDEi		Q9UPZ9

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		85480 [Q9UPZ9-1]
85481 [Q9UPZ9-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9UPZ9

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

More...PhosphoSitePlusi		Q9UPZ9

<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 heart, brain, placenta, pancreas, thymus, prostate, testis, ovary, small intestine and colon, with highest levels in placenta and testis. Not detected in spleen. Also expressed in many cancer cell lines.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000112144, Expressed in nasal cavity mucosa and 233 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9UPZ9, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9UPZ9, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000112144, Low tissue specificity

<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%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		116527, 51 interactors

Protein interaction database and analysis system

More...IntActi		Q9UPZ9, 26 interactors

Molecular INTeraction database

More...MINTi		Q9UPZ9

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000349458

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		Q9UPZ9

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9UPZ9, protein

<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

3D structure databases

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

More...SMRi		Q9UPZ9

Database of comparative protein structure models

More...ModBasei		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%5Fand%5Fdomains%5Fsection">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>Domaini4 – 284Protein kinasePROSITE-ProRule annotationCuratedAdd BLAST281

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni290 – 344DisorderedSequence analysisAdd BLAST55
Regioni457 – 481DisorderedSequence analysisAdd BLAST25
Regioni582 – 632DisorderedSequence analysisAdd BLAST51

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 type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi314 – 328Pro residuesSequence analysisAdd BLAST15
Compositional biasi330 – 344Polar residuesSequence analysisAdd BLAST15
Compositional biasi462 – 480Polar residuesSequence analysisAdd BLAST19

<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

Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0661, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158807

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_000288_181_25_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9UPZ9

Database of Orthologous Groups

More...OrthoDBi		76933at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9UPZ9

TreeFam database of animal gene trees

More...TreeFami		TF328769

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...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

More...SMARTi		View protein in SMART
SM00220, S_TKc, 1 hit

Superfamily database of structural and functional annotation

More...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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 11 Publication (identifier: Q9UPZ9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MNRYTTIRQL GDGTYGSVLL GRSIESGELI AIKKMKRKFY SWEECMNLRE 
        60         70         80         90        100
VKSLKKLNHA NVVKLKEVIR ENDHLYFIFE YMKENLYQLI KERNKLFPES 
       110        120        130        140        150
AIRNIMYQIL QGLAFIHKHG FFHRDLKPEN LLCMGPELVK IADFGLAREI 
       160        170        180        190        200
RSKPPYTDYV STRWYRAPEV LLRSTNYSSP IDVWAVGCIM AEVYTLRPLF 
       210        220        230        240        250
PGASEIDTIF KICQVLGTPK KTDWPEGYQL SSAMNFRWPQ CVPNNLKTLI 
       260        270        280        290        300
PNASSEAVQL LRDMLQWDPK KRPTASQALR YPYFQVGHPL GSTTQNLQDS 
       310        320        330        340        350
EKPQKGILEK AGPPPYIKPV PPAQPPAKPH TRISSRQHQA SQPPLHLTYP 
       360        370        380        390        400
YKAEVSRTDH PSHLQEDKPS PLLFPSLHNK HPQSKITAGL EHKNGEIKPK 
       410        420        430        440        450
SRRRWGLISR STKDSDDWAD LDDLDFSPSL SRIDLKNKKR QSDDTLCRFE 
       460        470        480        490        500
SVLDLKPSEP VGTGNSAPTQ TSYQRRDTPT LRSAAKQHYL KHSRYLPGIS 
       510        520        530        540        550
IRNGILSNPG KEFIPPNPWS SSGLSGKSSG TMSVISKVNS VGSSSTSSSG 
       560        570        580        590        600
LTGNYVPSFL KKEIGSAMQR VHLAPIPDPS PGYSSLKAMR PHPGRPFFHT 
       610        620        630 
QPRSTPGLIP RPPAAQPVHG RTDWASKYAS RR
Length:632
Mass (Da):71,427
Last modified:May 1, 2000 - 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:iF4C22C6CCD5878D2
GO
Isoform 2Curated (identifier: Q9UPZ9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     278-292: ALRYPYFQVGHPLGS → VFFHFLVITFISNSE
     293-632: Missing.

Show »
Length:292
Mass (Da):34,071
Checksum:iAB4CA7370E16F983
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A7I2PIU1A0A7I2PIU1_HUMAN
Serine/threonine-protein kinase ICK
CILK1
639Annotation 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 BAA76780 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.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 conflicti48L → Q in AAF37278 (PubMed:10699974).Curated1
Sequence conflicti119H → L in AAF37278 (PubMed:10699974).Curated1
Sequence conflicti310K → R in AAF37278 (PubMed:10699974).Curated1
Sequence conflicti598 – 599FH → LD in AAF37278 (PubMed:10699974).Curated2
Sequence conflicti629A → P in AAF37278 (PubMed:10699974).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05393198P → L. Corresponds to variant dbSNP:rs1493105Ensembl.1
Natural variantiVAR_080554102I → L in EJM10; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs748539319EnsemblClinVar.1
Natural variantiVAR_042001115F → Y in a renal clear cell carcinoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_080555220K → E in EJM10; impairs mitosis, cell-cycle exit and radial neuroblast migration, while promoting apoptosis, when tested in a heterologous system. 1 Publication1
Natural variantiVAR_057994272R → Q in ECO; significantly impairs kinase activity; decreased localization at the ciliary tips; impaired ciliogenesis; results in abnormally elongated cilia; impairs mitosis, cell-cycle exit and radial neuroblast migration, while promoting apoptosis, when tested in a heterologous system; loss of nuclear localization. 4 PublicationsCorresponds to variant dbSNP:rs118203918EnsemblClinVar.1
Natural variantiVAR_080556305K → T in EJM10; impairs mitosis, cell-cycle exit and radial neuroblast migration, while promoting apoptosis, when tested in a heterologous system. 1 PublicationCorresponds to variant dbSNP:rs765078446EnsemblClinVar.1
Natural variantiVAR_042002320V → I2 PublicationsCorresponds to variant dbSNP:rs33936662Ensembl.1
Natural variantiVAR_080557369 – 373Missing in EJM10; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs201964851Ensembl.5
Natural variantiVAR_042003471T → K1 PublicationCorresponds to variant dbSNP:rs56164633Ensembl.1
Natural variantiVAR_042004476R → Q1 PublicationCorresponds to variant dbSNP:rs55895113Ensembl.1
Natural variantiVAR_042005615A → T in EJM10; unknown pathological significance; impairs mitosis, cell-cycle exit and radial neuroblast migration, while promoting apoptosis, when tested in a heterologous system. 2 PublicationsCorresponds to variant dbSNP:rs55932059EnsemblClinVar.1
Natural variantiVAR_080558632Missing in EJM10; impairs mitosis, cell-cycle exit and radial neuroblast migration, while promoting apoptosis, when tested in a heterologous system. 1 Publication1

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_050752278 – 292ALRYP…HPLGS → VFFHFLVITFISNSE in isoform 2. 1 PublicationAdd BLAST15
Alternative sequenceiVSP_050753293 – 632Missing in isoform 2. 1 PublicationAdd BLAST340

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
AF225919 mRNA Translation: AAF37278.1
AF152469 mRNA Translation: AAG43364.1
AB023153 mRNA Translation: BAA76780.2 Different initiation.
AL031178 Genomic DNA No translation available.
AL162581 Genomic DNA No translation available.
CH471081 Genomic DNA Translation: EAX04400.1
BC035807 mRNA Translation: AAH35807.1
BC136420 mRNA Translation: AAI36421.1
BC136421 mRNA Translation: AAI36422.1
BC152464 mRNA Translation: AAI52465.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS4949.1 [Q9UPZ9-1]

NCBI Reference Sequences

More...RefSeqi		NP_055735.1, NM_014920.3 [Q9UPZ9-1]
NP_057597.2, NM_016513.4 [Q9UPZ9-1]
XP_016865977.1, XM_017010488.1
XP_016865978.1, XM_017010489.1
XP_016865979.1, XM_017010490.1
XP_016865980.1, XM_017010491.1
XP_016865981.1, XM_017010492.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000356971; ENSP00000349458; ENSG00000112144
ENST00000676107; ENSP00000501692; ENSG00000112144

Database of genes from NCBI RefSeq genomes

More...GeneIDi		22858

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:22858

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000676107.1; ENSP00000501692.1; NM_014920.5; NP_055735.1

UCSC genome browser

More...UCSCi		uc003pbh.3, human [Q9UPZ9-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AF225919 mRNA Translation: AAF37278.1
AF152469 mRNA Translation: AAG43364.1
AB023153 mRNA Translation: BAA76780.2 Different initiation.
AL031178 Genomic DNA No translation available.
AL162581 Genomic DNA No translation available.
CH471081 Genomic DNA Translation: EAX04400.1
BC035807 mRNA Translation: AAH35807.1
BC136420 mRNA Translation: AAI36421.1
BC136421 mRNA Translation: AAI36422.1
BC152464 mRNA Translation: AAI52465.1
CCDSiCCDS4949.1 [Q9UPZ9-1]
RefSeqiNP_055735.1, NM_014920.3 [Q9UPZ9-1]
NP_057597.2, NM_016513.4 [Q9UPZ9-1]
XP_016865977.1, XM_017010488.1
XP_016865978.1, XM_017010489.1
XP_016865979.1, XM_017010490.1
XP_016865980.1, XM_017010491.1
XP_016865981.1, XM_017010492.1

3D structure databases

SMRiQ9UPZ9
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi116527, 51 interactors
IntActiQ9UPZ9, 26 interactors
MINTiQ9UPZ9
STRINGi9606.ENSP00000349458

Chemistry databases

BindingDBiQ9UPZ9
ChEMBLiCHEMBL1163126
DrugBankiDB12010, Fostamatinib
DrugCentraliQ9UPZ9

PTM databases

iPTMnetiQ9UPZ9
PhosphoSitePlusiQ9UPZ9

Genetic variation databases

BioMutaiICK
DMDMi48428273

Proteomic databases

EPDiQ9UPZ9
jPOSTiQ9UPZ9
MassIVEiQ9UPZ9
PaxDbiQ9UPZ9
PeptideAtlasiQ9UPZ9
PRIDEiQ9UPZ9
ProteomicsDBi85480 [Q9UPZ9-1]
85481 [Q9UPZ9-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		605, 298 antibodies from 24 providers

The DNASU plasmid repository

More...DNASUi		22858

Genome annotation databases

EnsembliENST00000356971; ENSP00000349458; ENSG00000112144
ENST00000676107; ENSP00000501692; ENSG00000112144
GeneIDi22858
KEGGihsa:22858
MANE-SelectiENST00000676107.1; ENSP00000501692.1; NM_014920.5; NP_055735.1
UCSCiuc003pbh.3, human [Q9UPZ9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		22858
DisGeNETi22858

GeneCards: human genes, protein and diseases

More...GeneCardsi		CILK1
HGNCiHGNC:21219, CILK1
HPAiENSG00000112144, Low tissue specificity
MalaCardsiCILK1
MIMi612325, gene
612651, phenotype
617924, phenotype
neXtProtiNX_Q9UPZ9
OpenTargetsiENSG00000112144
Orphaneti199332, Endocrine-cerebro-osteodysplasia syndrome
307, Juvenile myoclonic epilepsy
PharmGKBiPA134894544
VEuPathDBiHostDB:ENSG00000112144

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0661, Eukaryota
GeneTreeiENSGT00940000158807
HOGENOMiCLU_000288_181_25_1
InParanoidiQ9UPZ9
OrthoDBi76933at2759
PhylomeDBiQ9UPZ9
TreeFamiTF328769

Enzyme and pathway databases

PathwayCommonsiQ9UPZ9
SignaLinkiQ9UPZ9
SIGNORiQ9UPZ9

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		22858, 6 hits in 1074 CRISPR screens

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

More...ChiTaRSi		ICK, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ICK_(gene)

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

More...GenomeRNAii		22858
PharosiQ9UPZ9, Tchem

Protein Ontology

More...PROi		PR:Q9UPZ9
RNActiQ9UPZ9, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000112144, Expressed in nasal cavity mucosa and 233 other tissues
ExpressionAtlasiQ9UPZ9, baseline and differential
GenevisibleiQ9UPZ9, 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

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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 nameiCILK1_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: Q9UPZ9
Secondary accession number(s): A7MD41
, O75985, Q5THL2, Q8IYH8, Q9BX17, Q9NYX3
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 7, 2004
Last sequence update: May 1, 2000
Last modified: February 23, 2022
This is version 183 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

Reference proteome

Documents

  1. Human and mouse protein kinases
    Human and mouse protein kinases: classification and index
  2. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  3. Human entries with genetic variants
    List of human entries with genetic variants
  4. Human variants curated from literature reports
    Index of human variants curated from literature reports
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. SIMILARITY comments
    Index of protein domains and families
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