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Cilk1 ciliogenesis associated kinase 1 [ Mus musculus (house mouse) ]

Gene ID: 56542, updated on 2-Nov-2024

Summary

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Official Symbol
Cilk1provided by MGI
Official Full Name
ciliogenesis associated kinase 1provided by MGI
Primary source
MGI:MGI:1934157
See related
Ensembl:ENSMUSG00000009828 AllianceGenome:MGI:1934157
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Ick; Mrk; 2210420N10Rik
Summary
Enables protein serine/threonine kinase activity. Involved in cilium organization and protein phosphorylation. Located in several cellular components, including ciliary basal body; ciliary base; and ciliary tip. Is expressed in several structures, including adipose tissue; alimentary system; eye; genitourinary system; and nervous system. Used to study endocrine-cerebro-osteodysplasia syndrome. Human ortholog(s) of this gene implicated in endocrine-cerebro-osteodysplasia syndrome and juvenile myoclonic epilepsy 10. Orthologous to human CILK1 (ciliogenesis associated kinase 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in whole brain E14.5 (RPKM 10.6), CNS E18 (RPKM 10.2) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Cilk1 in Genome Data Viewer
Location:
9 E1; 9 43.56 cM
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (78016425..78079396)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (78109080..78172114)

Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene Neighboring gene f-box protein 9 Neighboring gene STARR-positive B cell enhancer ABC_E6773 Neighboring gene STARR-positive B cell enhancer mm9_chr9:77960730-77961031 Neighboring gene STARR-seq mESC enhancer starr_24717 Neighboring gene RIKEN cDNA C920006O11 gene Neighboring gene STARR-positive B cell enhancer ABC_E41 Neighboring gene STARR-positive B cell enhancer ABC_E6774 Neighboring gene RNA, 7SK, nuclear

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. An Epilepsy-Associated CILK1 Variant Compromises KATNIP Regulation and Impairs Primary Cilia and Hedgehog Signaling. Limerick A, et al. Cells, 2024 Jul 26. PMID 39120290, Free PMC Article
  2. Mice Harboring a Non-Functional CILK1/ICK Allele Fail to Model the Epileptic Phenotype in Patients Carrying Variant CILK1/ICK. Salvati KA, et al. Int J Mol Sci, 2021 Aug 18. PMID 34445580, Free PMC Article
  3. Enriched expression of the ciliopathy gene Ick in cell proliferating regions of adult mice. Tsutsumi R, et al. Gene Expr Patterns, 2018 Sep. PMID 29635032
  4. Phosphosite T674A mutation in kinesin family member 3A fails to reproduce tissue and ciliary defects characteristic of CILK1 loss of function. Gailey CD, et al. Dev Dyn, 2021 Feb. PMID 32935890, Free PMC Article
  5. Fibroblast growth factor receptor influences primary cilium length through an interaction with intestinal cell kinase. Kunova Bosakova M, et al. Proc Natl Acad Sci U S A, 2019 Mar 5. PMID 30782830, Free PMC Article

See all (42) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Phosphosite T674A mutation in kinesin family member 3A fails to reproduce tissue and ciliary defects characteristic of CILK1 loss of function.
    Title: Phosphosite T674A mutation in kinesin family member 3A fails to reproduce tissue and ciliary defects characteristic of CILK1 loss of function.
  2. Mice Harboring a Non-Functional CILK1/ICK Allele Fail to Model the Epileptic Phenotype in Patients Carrying Variant CILK1/ICK.
    Title: Mice Harboring a Non-Functional CILK1/ICK Allele Fail to Model the Epileptic Phenotype in Patients Carrying Variant CILK1/ICK.
  3. Loss of ICK function markedly reduced mineralization in the spinal column, ribs, and long bones
    Title: A Murine Model for Human ECO Syndrome Reveals a Critical Role of Intestinal Cell Kinase in Skeletal Development.
  4. These results suggest that Ick is expressed in proliferating regions in the adult mouse brain, testis, and intestine.
    Title: Enriched expression of the ciliopathy gene Ick in cell proliferating regions of adult mice.
  5. Data indicate an essential role for intestinal cell kinase (ICK) in lung development and advances the mechanistic understanding of endocrine-cerebro-osteodysplasia (ECO) syndrome.
    Title: An essential role of intestinal cell kinase in lung development is linked to the perinatal lethality of human ECO syndrome.
  6. The results of this study found that loss of Ick leads to abnormal localization of the IFT component in kinocilia, PCP defects in HCs, and hearing dysfunction.
    Title: Ick Ciliary Kinase Is Essential for Planar Cell Polarity Formation in Inner Ear Hair Cells and Hearing Function.
  7. findings suggest that increased ICK expression/activity in response to protein deprivation likely provides a novel protective mechanism to limit apoptosis and support compensatory mucosal growth under nutritional stress.
    Title: Intestinal cell kinase is a novel participant in intestinal cell signaling responses to protein malnutrition.
  8. the expressions of ICK/MAK/MOK proteins in the intestinal tract can be differentially and dynamically regulated, implicating a significant functional diversity within this group of protein kinases.
    Title: Distinct expression patterns of ICK/MAK/MOK protein kinases in the intestine implicate functional diversity.
  9. Data indicate that ciliary defects caused by a lack of functional intestinal cell kinase (ICK) leads to abnormal Sonic hedgehog (Shh) signaling, resulting in congenital disorders such as endocrine-cerebro-osteodysplasia (ECO) syndrome .
    Title: Intestinal cell kinase, a protein associated with endocrine-cerebro-osteodysplasia syndrome, is a key regulator of cilia length and Hedgehog signaling.
  10. ICK is a Kif3a kinase and essential for proper ciliogenesis in development by regulating ciliary transport at the tip of cilia.
    Title: ICK is essential for cell type-specific ciliogenesis and the regulation of ciliary transport.
Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 
  • Gene trapped (1) 
  • Targeted (6)  1 citation

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATP binding ISO
Inferred from Sequence Orthology
more info
  
enables ATP binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables histone H2AS1 kinase activity IEA
Inferred from Electronic Annotation
more info
  
enables magnesium ion binding ISO
Inferred from Sequence Orthology
more info
  
enables magnesium ion binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein kinase activity ISO
Inferred from Sequence Orthology
more info
  
enables protein serine kinase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein serine/threonine kinase activity ISO
Inferred from Sequence Orthology
more info
  
enables protein serine/threonine kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in chromatin remodeling IEA
Inferred from Electronic Annotation
more info
  
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cilium assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cilium assembly ISO
Inferred from Sequence Orthology
more info
  
involved_in intracellular signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in intracellular signal transduction ISO
Inferred from Sequence Orthology
more info
  
involved_in intracellular signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in intraciliary anterograde transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in intraciliary retrograde transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in intraciliary transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in intraciliary transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein phosphorylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein phosphorylation ISO
Inferred from Sequence Orthology
more info
  
involved_in protein phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
  
acts_upstream_of_or_within signal transduction TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in ciliary basal body IDA
Inferred from Direct Assay
more info
 PubMed 
located_in ciliary base IDA
Inferred from Direct Assay
more info
 PubMed 
located_in ciliary tip IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in ciliary tip ISO
Inferred from Sequence Orthology
more info
  
is_active_in cilium IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cilium IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
located_in fibrillar center IEA
Inferred from Electronic Annotation
more info
  
located_in fibrillar center ISO
Inferred from Sequence Orthology
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
serine/threonine-protein kinase ICK
Names
MAK-related kinase
intestinal cell kinase
mICK
NP_001157252.1
NP_064371.2
XP_006511367.1
XP_030100325.1
XP_030100326.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001163780.1 → NP_001157252.1  serine/threonine-protein kinase ICK

    See identical proteins and their annotated locations for NP_001157252.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC159313
    Consensus CDS
    CCDS40697.1
    UniProtKB/Swiss-Prot
    Q8K138, Q9JKV2
    UniProtKB/TrEMBL
    Q3U4K6
    Related
    ENSMUSP00000112961.2, ENSMUST00000118869.8
    Conserved Domains (1) summary
    cd07830
    Location:4 → 284
    STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases

  2. NM_019987.2 → NP_064371.2  serine/threonine-protein kinase ICK

    See identical proteins and their annotated locations for NP_064371.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC159313, AK087484, AK173068, BM935223
    Consensus CDS
    CCDS40697.1
    UniProtKB/Swiss-Prot
    Q8K138, Q9JKV2
    UniProtKB/TrEMBL
    Q3U4K6
    Related
    ENSMUSP00000048234.8, ENSMUST00000044551.8
    Conserved Domains (1) summary
    cd07830
    Location:4 → 284
    STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000075.7 Reference GRCm39 C57BL/6J

    Range
    78016425..78079396
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030244466.2 → XP_030100326.1  serine/threonine-protein kinase ICK isoform X2

    UniProtKB/TrEMBL
    Q69ZV0
    Conserved Domains (1) summary
    cd07830
    Location:1 → 203
    STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases

  2. XM_030244465.1 → XP_030100325.1  serine/threonine-protein kinase ICK isoform X2

    UniProtKB/TrEMBL
    Q69ZV0
    Conserved Domains (1) summary
    cd07830
    Location:1 → 203
    STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases

  3. XM_006511304.2 → XP_006511367.1  serine/threonine-protein kinase ICK isoform X1

    See identical proteins and their annotated locations for XP_006511367.1

    UniProtKB/Swiss-Prot
    Q8K138, Q9JKV2
    UniProtKB/TrEMBL
    Q3U4K6
    Conserved Domains (1) summary
    cd07830
    Location:4 → 284
    STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9JKV2.2 GenPept UniProtKB/Swiss-Prot:Q9JKV2

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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