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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
External Ids for CILK1 Gene
- HGNC: 21219
- Entrez Gene: 22858
- Ensembl: ENSG00000112144
- OMIM: 612325
- UniProtKB: Q9UPZ9
Previous HGNC Symbols for CILK1 Gene
- ICK
Summaries 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).
Additional gene information for CILK1 Gene
- HGNC(21219)
- Entrez Gene(22858)
- Ensembl(ENSG00000112144)
- OMIM(612325)
- UniProtKB(Q9UPZ9)
- Open Targets Platform(ENSG00000112144)
- Monarch Initiative
- Search for CILK1 at DataMed
- Search for CILK1 at HumanCyc
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 Pubs
Promoters and enhancers for CILK1 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CILK1
Genomic Locations for CILK1 Gene
Genomic Locations for CILK1 Gene
- chr6:53,001,279-53,061,824
- (GRCh38/hg38)
- Size:
- 60,546 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:
-
- 6p12.1 by HGNC
- 6p12.1 by Entrez Gene
- 6p12.1 by Ensembl
CILK1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CILK1 Gene
Proteins for CILK1 Gene
-
Protein details for CILK1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9UPZ9-CILK1_HUMAN
- Recommended name:
- Serine/threonine-protein kinase ICK
- Protein Accession:
- Q9UPZ9
- 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; Note=Extended N-terminus.; Evidence={ECO:0000305};
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
Antibody Products
- LifeSpan BioSciences ICK Antibody
- G Biosciences Immunotag™ Phospho-ICK (Tyr159) Antibody
- Novus Biologicals Antibodies for CILK1
- Invitrogen Antibodies for CILK1 (AFLGC-CILK1)
-
Boster Bio Antibodies for CILK1
Protein Products
-
OriGene Purified Proteins for CILK1
- Search Origene for MassSpec and Protein Over-expression Lysates for CILK1
- Origene Custom Protein Services for CILK1
- antibodies-online: Show 11 available ICK Proteins ranked by validation data
- Compare Top ICK Proteins
-
Signalway Proteins for CILK1
-
Abcam proteins for CILK1
Assay Products
- antibodies-online: Show 9 available ICK Elisa Kits ranked by validation data
- Compare Top ICK Elisa Kits
-
Quality Products:
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
Q9UPZ9UniProtKB/Swiss-Prot:
CILK1_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.
Function for CILK1 Gene
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={ECO:0000269|PubMed:10699974, ECO:0000269|PubMed:19185282};.
- 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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0000287 | magnesium ion binding | IDA | 10699974 |
| GO:0004672 | protein kinase activity | IDA | 19185282 |
| GO:0004674 | protein serine/threonine kinase activity | IBA,IDA | 10699974 |
| GO:0004707 | MAP kinase activity | IBA | 21873635 |
Phenotypes for CILK1 Gene
- MGI mutant phenotypes for CILK1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for CILK1:
-
- Mildly decreased CFP-tsO45G cell surface transport
- no effect
- Decreased viability
- Increased cell death HMECs cells
- Decreased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Dynamic nuclei (hole, folded or small irregular)
- Negative genetic interaction between BLM-/- and BLM+/+
- Synthetic lethal with Ras
- Increased transferrin (TF) endocytosis
- Decreased viability in pancreas lineage
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Decreased substrate adherent cell growth
- Wnt reporter downregulated
- Downregulation of RLR pathway after Sendai virus (SeV) infection
- Increased human cytomegalovirus (HCMV) strain AD169 replication
- Increased cell death in DLD-1 cells
- Decreased caspase 3/7 activity
- Decreased viability after gemcitabine stimulation
- Decreased human cytomegalovirus (HCMV) strain AD169 replication
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
- Applied Biological Materials (abm): CRISPR Clones for CILK1 - Select products 50% OFF >
- * CILK1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CILK1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CILK1
miRNA for CILK1 Gene
- miRTarBase miRNAs that target CILK1
-
- hsa-miR-215-5p (MIRT024721)
- hsa-miR-192-5p (MIRT026365)
- hsa-miR-101-3p (MIRT027299)
- hsa-miR-4760-3p (MIRT401886)
- hsa-miR-3942-3p (MIRT475415)
- hsa-miR-449c-3p (MIRT475416)
- hsa-miR-27b-3p (MIRT475417)
- hsa-miR-27a-3p (MIRT475418)
- hsa-miR-513a-5p (MIRT475419)
- hsa-miR-6825-5p (MIRT475420)
- hsa-miR-7106-5p (MIRT475421)
- hsa-miR-766-5p (MIRT475422)
- hsa-miR-6077 (MIRT475423)
- hsa-miR-8086 (MIRT475424)
- hsa-miR-6770-5p (MIRT475425)
- hsa-miR-3179 (MIRT475426)
- hsa-miR-4310 (MIRT475427)
- hsa-miR-7157-5p (MIRT475428)
- hsa-miR-4756-3p (MIRT475429)
- hsa-miR-3919 (MIRT475430)
- hsa-miR-205-3p (MIRT475431)
- hsa-miR-3154 (MIRT475432)
- hsa-miR-943 (MIRT529394)
- hsa-miR-4439 (MIRT529395)
- hsa-miR-3136-5p (MIRT529396)
- hsa-miR-6516-3p (MIRT529397)
- hsa-miR-3152-3p (MIRT529398)
- hsa-miR-205-5p (MIRT529399)
- hsa-miR-892a (MIRT529400)
- hsa-miR-6715b-3p (MIRT529401)
- hsa-miR-6715a-3p (MIRT529402)
- hsa-miR-548c-3p (MIRT529403)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CILK1
- Browse OriGene Inhibitory RNA Products For CILK1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CILK1
Clone Products
- Applied Biological Materials (abm): Clones for CILK1 - Select products 50% OFF >
- * CILK1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG209586
- MG223892
- MR209586
- MR209586L3
- MR209586L4
- MR223892
- MR223892L3
- MR223892L4
- RC213609
- RC213609L3
- RC213609L4
- RC216454
- RC216454L1
- RC216454L2
- RC216454L3
- RC216454L4
- RG213609
- RG216454
- RR201261
- RR201261L3
- RR201261L4
- MR209586L3V
- MR209586L4V
- MR223892L3V
- MR223892L4V
- RC213609L3V
- RC213609L4V
- RC216454L1V
- RC216454L2V
- RC216454L3V
- RC216454L4V
- RR201261L3V
- RR201261L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CILK1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CILK1
Cell Line Products
-
Horizon Cell Lines for CILK1
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}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytoskeleton | 4 |
| cytosol | 4 |
| plasma membrane | 2 |
| extracellular | 2 |
| mitochondrion | 2 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Nucleoli fibrillar center (2)
| 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 | -- |
Pathways & Interactions for CILK1 Gene
Interacting Proteins for CILK1 Gene
Selected Interacting proteins:
Q9UPZ9-CILK1_HUMAN
ENSP00000349458
for CILK1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for CILK1
SIGNOR curated interactions 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 | -- |
No data available for Pathways by source for CILK1 Gene
Drugs & Compounds for CILK1 Gene
| 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, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
Transcripts for CILK1 Gene
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 :
-
- ENST00000350082 6116 nts (view in UCSC)
- ENST00000356971 6227 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CILK1 - Select products 50% OFF >
- * CILK1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CILK1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CILK1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CILK1
- Browse OriGene Inhibitory RNA Products For CILK1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CILK1
Clone Products
- Applied Biological Materials (abm): Clones for CILK1 - Select products 50% OFF >
- * CILK1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG209586
- MG223892
- MR209586
- MR209586L3
- MR209586L4
- MR223892
- MR223892L3
- MR223892L4
- RC213609
- RC213609L3
- RC213609L4
- RC216454
- RC216454L1
- RC216454L2
- RC216454L3
- RC216454L4
- RG213609
- RG216454
- RR201261
- RR201261L3
- RR201261L4
- MR209586L3V
- MR209586L4V
- MR223892L3V
- MR223892L4V
- RC213609L3V
- RC213609L4V
- RC216454L1V
- RC216454L2V
- RC216454L3V
- RC216454L4V
- RR201261L3V
- RR201261L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CILK1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CILK1
Relevant External Links for CILK1 Gene
- GeneLoc Exon Structure for
- CILK1
Expression for CILK1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Hematopoietic Stem Cells Hematopoietic Bone Marrow
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CILK1
SOURCE GeneReport for Unigene cluster for CILK1 Gene:
Hs.417022mRNA Expression by UniProt/SwissProt for CILK1 Gene:
Q9UPZ9-CILK1_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(3.1)
- Skin(2.5)
- Blood(2.2)
- Intestine(2.2)
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
Primer Products
-
OriGene qPCR primer pairs for CILK1
-
OriGene qPCR primer pairs and template standards for CILK1
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ICK 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ICK 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ICK 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | ICK 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Ick 30 31 |
|
OneToOne | |
| Cilk1 17 |
|
||||
| Rat (Rattus norvegicus) |
Mammalia | Ick 30 |
|
||
| Chicken (Gallus gallus) |
Aves | ICK 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ICK 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ick 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG42366 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | dyf-5 31 |
|
OneToMany | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | IME2 31 33 33 |
|
OneToMany | |
| Barley (Hordeum vulgare) |
Liliopsida | Hv.1455 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.8284 30 |
|
- Species where no ortholog for CILK1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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
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 |
|---|---|---|---|---|---|
| 708986 | Likely Benign: not provided | 53,009,539(-) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
| 725806 | Likely Benign: not provided | 53,011,845(-) | T/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
| 728070 | Likely Benign: not provided | 53,012,213(-) | G/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
| 729148 | Benign: not provided | 53,009,452(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
| 734127 | Benign/Likely Benign: not specified; not provided | 53,016,248(-) | A/G | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT |
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
(8) MalaCards diseases for CILK1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| endocrine-cerebroosteodysplasia |
|
|
| epilepsy, juvenile myoclonic 10 |
|
|
| epilepsy, myoclonic juvenile |
|
|
| epilepsy |
|
|
| seizure disorder |
|
|
Search CILK1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CILK1_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
No data available for Genatlas for CILK1 Gene
Publications for CILK1 Gene
- 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
- The identification and subcellular localization of human MRK. (PMID: 12103360) Yang T … Chen J (Biomolecular engineering 2002) 2 3 4
- 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
- Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy. (PMID: 29539279) Bailey JN … Delgado-Escueta AV (The New England journal of medicine 2018) 3 4
- 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
ExternalLinks
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