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

Summary

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, Oct 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

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_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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

AI848300 (e-PCR)
- UniSTS:165649

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

RH118328 (e-PCR)
- UniSTS:160966

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

EC 2.7.11.1

NP_064371.2

EC 2.7.11.1

XP_006511367.1

EC 2.7.11.1

XP_030100325.1

EC 2.7.11.1

XP_030100326.1

EC 2.7.11.1

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)

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
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

NC_000075.7 Reference GRCm39 C57BL/6J

Range

78016425..78079396

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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