CILK1 Gene (Protein Coding)

Ciliogenesis Associated Kinase 1

GC06M053002
GIFtS:
35
Eukaryotic protein kinases are enzymes that belong to a very extensive family of proteins which share a conserved catalytic core common with both serine/threonine and tyrosine protein kinases. This gene encodes an intestinal serine/threonine kinase harboring a dual phosphorylation site found in mitogen-activating protein (MAP) kinases. The protein localizes to the intestinal cr... See more...

Aliases for CILK1 Gene

Aliases for CILK1 Gene

  • Ciliogenesis Associated Kinase 1 2 3
  • Intestinal Cell Kinase 2 3 4 5
  • Serine/Threonine-Protein Kinase ICK 2 3 4
  • MAK-Related Kinase 2 3 4
  • Intestinal Cell (MAK-Like) Kinase 2 3
  • Laryngeal Cancer Kinase 2 3 4
  • LCK2 3 4
  • HICK 3 4
  • ICK 3 5
  • MRK 3 4
  • Iciliogenesis Associated Kinase 1 3
  • Serine/Threonine Protein Kinase 3
  • EC 2.7.11.22 52
  • EC 2.7.11.1 4
  • EC 2.7.11 52
  • KIAA0936 4
  • EJM10 3
  • ECO 3

External Ids for CILK1 Gene

Previous HGNC Symbols for CILK1 Gene

  • ICK

Summaries for CILK1 Gene

Entrez Gene Summary for CILK1 Gene

  • Eukaryotic protein kinases are enzymes that belong to a very extensive family of proteins which share a conserved catalytic core common with both serine/threonine and tyrosine protein kinases. This gene encodes an intestinal serine/threonine kinase harboring a dual phosphorylation site found in mitogen-activating protein (MAP) kinases. The protein localizes to the intestinal crypt region and is thought to be important in intestinal epithelial cell proliferation and differentiation. Alternative splicing has been observed at this locus and two variants, encoding the same isoform, have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for CILK1 Gene

CILK1 (Ciliogenesis Associated Kinase 1) is a Protein Coding gene. Diseases associated with CILK1 include Endocrine-Cerebroosteodysplasia and Epilepsy, Juvenile Myoclonic 10. An important paralog of this gene is MAK.

UniProtKB/Swiss-Prot Summary for CILK1 Gene

  • 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).

Gene Wiki entry for CILK1 Gene

Additional gene information for CILK1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CILK1 Gene

Genomics for CILK1 Gene

GeneHancer (GH) Regulatory Elements for CILK1 Gene

Promoters and enhancers for CILK1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH06J053054 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 505.2 +0.1 66 15.5 FOXK2 ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 POLR2G SP1 JUND CILK1 FBXO9 MCM3 TRAM2 GSTA3 EFHC1 piR-38352-469
GH06J052992 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 16.2 +66.9 66932 4.6 FOXK2 ZBTB40 ZNF217 CTCF TCF12 MYC ZNF300 POLR2G NCOR1 FOS 4WKR_C ENSG00000202198 GSTA4 RN7SK X05490 EFHC1 MCM3 CILK1 GSTA3 RF00019-091
GH06J052663 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 10 +396.6 396550 4.2 ZBTB40 ZNF217 CTCF SIN3A POLR2G SP1 NCOR1 PHF8 FOS ZNF639 ENSG00000216775 LOC730101 EFHC1 TRAM2 TRAM2-AS1 CILK1 TMEM14A lnc-GSTA2-3
GH06J053009 Enhancer 1 Ensembl ENCODE dbSUPER 15.8 +48.6 48649 7.1 CUX1 ATF2 GATAD2B CTBP1 SIN3A CREB1 NEUROD1 FOSL1 KLF9 FOXA1 CILK1 FBXO9 piR-45035-159 piR-38352-469
GH06J053032 Enhancer 0.9 Ensembl ENCODE dbSUPER 16.8 +27.4 27389 4 FOS PBX2 RBM22 FOSL1 ZFHX2 GATA2 ATF2 EGR2 ATF7 CEBPB CILK1 FBXO9 piR-38352-469 piR-45035-159
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CILK1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CILK1

Genomic Locations for CILK1 Gene

Genomic Locations for CILK1 Gene
chr6:53,001,279-53,061,833
(GRCh38/hg38)
Size:
60,555 bases
Orientation:
Minus strand
chr6:52,866,077-52,926,600
(GRCh37/hg19)
Size:
60,524 bases
Orientation:
Minus strand

Genomic View for CILK1 Gene

Genes around CILK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CILK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CILK1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CILK1 Gene

Proteins for CILK1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for CILK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UPZ9-ICK_HUMAN
    Recommended name:
    Serine/threonine-protein kinase ICK
    Protein Accession:
    Q9UPZ9
    Secondary Accessions:
    • A7MD41
    • O75985
    • Q5THL2
    • Q8IYH8
    • Q9BX17
    • Q9NYX3

    Protein attributes for CILK1 Gene

    Size:
    632 amino acids
    Molecular mass:
    71427 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA76780.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for CILK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CILK1 Gene

Selected DME Specific Peptides for CILK1 Gene

Q9UPZ9:
  • YSSPIDVWAVG
  • PKKRPTA
  • VHGRTDW
  • LKPENLL
  • RDLKPEN
  • TRWYRAPE

Post-translational modifications for CILK1 Gene

  • Autophosphorylated on serine and threonine residues. Phosphorylation at Thr-157 increases kinase activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CILK1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for CILK1 Gene

Gene Families for CILK1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for CILK1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CILK1 Gene

GenScript: Design optimal peptide antigens:
  • MAK-related kinase (ICK_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UPZ9

UniProtKB/Swiss-Prot:

ICK_HUMAN :
  • Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily.
Family:
  • Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily.
genes like me logo Genes that share domains with CILK1: view

Function for CILK1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for CILK1 Gene

UniProtKB/Swiss-Prot Function:
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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence={ECO:0000269 PubMed:10699974, ECO:0000269 PubMed:19185282};.

Enzyme Numbers (IUBMB) for CILK1 Gene

Phenotypes From GWAS Catalog for CILK1 Gene

Gene Ontology (GO) - Molecular Function for CILK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IDA 10699974
GO:0004672 protein kinase activity IDA 19185282
GO:0004674 protein serine/threonine kinase activity IDA,IBA 10699974
GO:0005515 protein binding IPI 22939624
GO:0005524 ATP binding IDA 10699974
genes like me logo Genes that share ontologies with CILK1: view
genes like me logo Genes that share phenotypes with CILK1: view

Human Phenotype Ontology for CILK1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CILK1 Gene

MGI Knock Outs for CILK1:
  • Cilk1 Cilk1<tm1a(KOMP)Mbp>

Animal Model Products

  • Taconic Biosciences Mouse Models for CILK1

CRISPR Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for CILK1 Gene

Localization for CILK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CILK1 Gene

Nucleus. Cytoplasm, cytosol. Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body. Note=Also found at the ciliary tip (PubMed:24797473). Nuclear localization has been observed with a GFP-tagged construct in transfected HeLa cells (PubMed:12103360, PubMed:19185282). {ECO:0000269 PubMed:12103360, ECO:0000269 PubMed:19185282, ECO:0000269 PubMed:24797473}.
[Isoform 2]: Cytoplasm. Note=Predominant cytoplasmic localization has been observed with a N-terminally GFP-tagged construct. {ECO:0000269 PubMed:15988018}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CILK1 gene
Compartment Confidence
nucleus 5
cytoskeleton 4
cytosol 4
plasma membrane 2
mitochondrion 2
extracellular 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CILK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus IBA,ISS --
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol IEA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with CILK1: view

Pathways & Interactions for CILK1 Gene

PathCards logo

SuperPathways for CILK1 Gene

No Data Available

SIGNOR curated interactions for CILK1 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CILK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IDA 10699974
GO:0007165 signal transduction TAS 10699974
GO:0007275 multicellular organism development IEA --
GO:0010468 regulation of gene expression IBA 21873635
GO:0016310 phosphorylation IEA --
genes like me logo Genes that share ontologies with CILK1: view

No data available for Pathways by source for CILK1 Gene

Drugs & Compounds for CILK1 Gene

Products:

  1. Drug

(4) Drugs for CILK1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
Magnesium Approved, Experimental, Investigational Pharma 0
Beta-D-Glucose Experimental Pharma Target 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(1) Additional Compounds for CILK1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with CILK1: view

Transcripts for CILK1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CILK1 Gene

8 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CILK1 Gene

No ASD Table

Relevant External Links for CILK1 Gene

GeneLoc Exon Structure for
CILK1

Expression for CILK1 Gene

Products:

  1. Primer

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CILK1

SOURCE GeneReport for Unigene cluster for CILK1 Gene:

Hs.417022

mRNA Expression by UniProt/SwissProt for CILK1 Gene:

Q9UPZ9-ICK_HUMAN
Tissue specificity: 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.

Evidence on tissue expression from TISSUES for CILK1 Gene

  • Nervous system(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CILK1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • ear
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • nose
  • outer ear
  • skull
Thorax:
  • breast
  • chest wall
  • rib
  • rib cage
  • sternum
Abdomen:
  • adrenal gland
Pelvis:
  • penis
  • testicle
  • urethra
  • vagina
  • vulva
Limb:
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • radius
  • shin
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
General:
  • skin
genes like me logo Genes that share expression patterns with CILK1: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for CILK1 Gene

Orthologs for CILK1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CILK1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia ICK 31 30
  • 99.58 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia ICK 31 30
  • 89.4 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia ICK 31 30
  • 88.43 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia ICK 31
  • 85 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Ick 31 30
  • 84.74 (n)
 OneToOne
Cilk1 17
rat
(Rattus norvegicus)
 Mammalia Ick 30
  • 84.63 (n)
chicken
(Gallus gallus)
 Aves ICK 31 30
  • 74.99 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia ICK 31
  • 70 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia ick 30
  • 63.9 (n)
fruit fly
(Drosophila melanogaster)
 Insecta CG42366 31
  • 33 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea dyf-5 31
  • 46 (a)
 OneToMany
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes IME2 33 31
  • 23 (a)
barley
(Hordeum vulgare)
 Liliopsida Hv.1455 30
sea squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 70 (a)
 OneToMany
Cin.8284 30
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.8284 30
Species where no ortholog for CILK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for CILK1 Gene

ENSEMBL:
Gene Tree for CILK1 (if available)
TreeFam:
Gene Tree for CILK1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CILK1: view image

Paralogs for CILK1 Gene

Paralogs for CILK1 Gene

genes like me logo Genes that share paralogs with CILK1: view

Variants for CILK1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CILK1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
593881 Uncertain Significance: not provided 53,016,129(-) C/T MISSENSE_VARIANT
595636 Benign: not specified 53,013,696(-) AGCAACGGGCTTG/A INFRAME_DELETION
rs1157785470 Pathogenic: Endocrine-cerebroosteodysplasia 53,031,065(-) C/A MISSENSE_VARIANT
rs118203918 Pathogenic: Endocrine-cerebroosteodysplasia. Endocrine-cerebroosteodysplasia (ECO) [MIM:612651] 53,016,099(-) C/Tp.Arg272Gln MISSENSE_VARIANT
rs1385476388 Uncertain Significance: not provided 53,006,372(-) C/A NONSENSE

Additional dbSNP identifiers (rs#s) for CILK1 Gene

Structural Variations from Database of Genomic Variants (DGV) for CILK1 Gene

Variant ID Type Subtype PubMed ID
nsv472194 CNV novel sequence insertion 20440878

Variation tolerance for CILK1 Gene

Residual Variation Intolerance Score: 13.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.26; 62.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CILK1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CILK1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CILK1 Gene

Disorders for CILK1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for CILK1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
endocrine-cerebroosteodysplasia
  • eco
epilepsy, juvenile myoclonic 10
  • epilepsy, juvenile myoclonic, susceptibility to, 10
epilepsy, myoclonic juvenile
  • ejm
epilepsy
  • epilepsy syndrome
seizure disorder
  • epilepsy
- elite association - COSMIC cancer census association via MalaCards
Search CILK1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ICK_HUMAN
  • Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]: Previously unidentified neonatal lethal recessive disorder with multiple anomalies involving the endocrine, cerebral, and skeletal systems. {ECO:0000269 PubMed:19185282, ECO:0000269 PubMed:24797473, ECO:0000269 PubMed:24853502, ECO:0000269 PubMed:29539279}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Juvenile myoclonic epilepsy 10 (EJM10) [MIM:617924]: A 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. {ECO:0000269 PubMed:29539279}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CILK1

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CILK1: view

No data available for Genatlas for CILK1 Gene

Publications for CILK1 Gene

  1. A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems. (PMID: 19185282) Lahiry P … Hegele RA (American journal of human genetics 2009) 3 4 23 54
  2. The identification and subcellular localization of human MRK. (PMID: 12103360) Yang T … Chen J (Biomolecular engineering 2002) 2 3 4 54
  3. Intestinal cell kinase (ICK) localizes to the crypt region and requires a dual phosphorylation site found in map kinases. (PMID: 10699974) Togawa K … Rustgi AK (Journal of cellular physiology 2000) 3 4 23 54
  4. Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy. (PMID: 29539279) Bailey JN … Delgado-Escueta AV (The New England journal of medicine 2018) 3 4 54
  5. ICK is essential for cell type-specific ciliogenesis and the regulation of ciliary transport. (PMID: 24797473) Chaya T … Furukawa T (The EMBO journal 2014) 3 4 54

ExternalLinks

View latest publications for CILK1 gene in Mastermind

Products for CILK1 Gene

  • Invitrogen Antibodies for CILK1 (AFLGC-ICK)

Sources for CILK1 Gene