CILK1 ciliogenesis associated kinase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CILK1provided by HGNC
Official Full Name: ciliogenesis associated kinase 1provided by HGNC
Primary source: HGNC:HGNC:21219
See related: Ensembl:ENSG00000112144 MIM:612325; AllianceGenome:HGNC:21219
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ECO; ICK; MRK; LCK2; hICK; EJM10
Summary: 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]
Expression: Ubiquitous expression in adrenal (RPKM 9.9), placenta (RPKM 5.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p12.1

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (53001303..53061824, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (52840881..52901428, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (52866101..52926622, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Ciliogenesis-associated Kinase 1 Promotes Breast Cancer Cell Proliferation and Chemoresistance via Phosphorylating ERK1.
Title: Ciliogenesis-associated Kinase 1 Promotes Breast Cancer Cell Proliferation and Chemoresistance via Phosphorylating ERK1.
The Scaffold Protein KATNIP Enhances CILK1 Control of Primary Cilia.
Title: The Scaffold Protein KATNIP Enhances CILK1 Control of Primary Cilia.
BROMI/TBC1D32 together with CCRK/CDK20 and FAM149B1/JBTS36 contributes to intraflagellar transport turnaround involving ICK/CILK1.
Title: BROMI/TBC1D32 together with CCRK/CDK20 and FAM149B1/JBTS36 contributes to intraflagellar transport turnaround involving ICK/CILK1.
Functional Alterations in Ciliogenesis-Associated Kinase 1 (CILK1) that Result from Mutations Linked to Juvenile Myoclonic Epilepsy.
Title: Functional Alterations in Ciliogenesis-Associated Kinase 1 (CILK1) that Result from Mutations Linked to Juvenile Myoclonic Epilepsy.
Anterograde trafficking of ciliary MAP kinase-like ICK/CILK1 by the intraflagellar transport machinery is required for intraciliary retrograde protein trafficking.
Title: Anterograde trafficking of ciliary MAP kinase-like ICK/CILK1 by the intraflagellar transport machinery is required for intraciliary retrograde protein trafficking.
Previously known as intestinal cell kinase because it was cloned from that origin, CILK1 is now recognized as a widely expressed and highly conserved. Mutations in the human CILK1 gene have been associated with ciliopathies. Thus, CILK1 has a fundamental role in the function of the cilium. Several candidate substrates have been proposed for CILK1. [review]
Title: Ciliogenesis associated kinase 1: targets and functions in various organ systems.
Study demonstrates that human ICK (intestinal cell kinase) that authors herein call CAPK (ciliopathy-associated protein kinase) interacts with human KIF3A and phosphorylates a conserved site Thr672 both in vitro and in vivo. Long, unstructured, non-catalytic carboxyl-terminal domain (CTD) of CAPK is required for this interaction with and phosphorylation of KIF3A.
Title: Ciliopathy-Associated Protein Kinase ICK Requires Its Non-Catalytic Carboxyl-Terminal Domain for Regulation of Ciliogenesis.
Our data provide evidence that heterozygous variants in ICK caused juvenile myoclonic epilepsy in 7% of the patients included in our analysis. Variant ICK affects cell processes that help explain microdysgenesis and polyspike networks observed on EEG in juvenile myoclonic epilepsy.
Title: Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy.
These data identify ICK as an short rib polydactyly syndromes (SRPS)-associated gene and reveal that abnormalities in signalling pathways contribute to defective skeletogenesis
Title: An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome.
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.

Submit: New GeneRIF Correction See all GeneRIFs (21)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Endocrine-cerebro-osteodysplasia syndrome MedGen: C2675227 OMIM: 612651 GeneReviews: Not available	Compare labs
Epilepsy, juvenile myoclonic, susceptibility to, 10 MedGen: C4693613 OMIM: 617924 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D6S1221E (e-PCR)
- UniSTS:20546

SGC35018 (e-PCR)
- UniSTS:79441

A006C43 (e-PCR)
- UniSTS:17747

RH68677 (e-PCR)
- UniSTS:52322

D11S3114 (e-PCR)
- UniSTS:152207

G20625 (e-PCR)
- UniSTS:7570

A005Z26 (e-PCR)
- UniSTS:7571

G32322 (e-PCR)
- UniSTS:116915

RH45102 (e-PCR)
- UniSTS:6853

AL035186 (e-PCR)
- UniSTS:94682

RH91718 (e-PCR)
- UniSTS:92926

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IDA Inferred from Direct Assay more info	PubMed
enables histone H2AS1 kinase activity	IEA Inferred from Electronic Annotation more info
enables magnesium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase activity	IDA Inferred from Direct Assay more info	PubMed
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

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 intracellular signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in intraciliary anterograde transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in intraciliary retrograde transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in intraciliary transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in intraciliary transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in ciliary basal body	ISS Inferred from Sequence or Structural Similarity more info
located_in ciliary base	ISS Inferred from Sequence or Structural Similarity more info
located_in ciliary tip	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in cilium	IBA Inferred from Biological aspect of Ancestor more info
located_in cilium	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in fibrillar center	IDA Inferred from Direct Assay 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	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: serine/threonine-protein kinase ICK

Names: MAK-related kinase; iciliogenesis associated kinase 1; intestinal cell (MAK-like) kinase; intestinal cell kinase; laryngeal cancer kinase 2; serine/threonine protein kinase

NP_001362326.1

EC 2.7.11.1

NP_001362327.1

EC 2.7.11.1

NP_001362328.1

EC 2.7.11.1

NP_001362329.1

EC 2.7.11.1

NP_001362330.1

EC 2.7.11.1

NP_001362331.1

EC 2.7.11.1

NP_055735.1

EC 2.7.11.1

NP_057597.2

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.

Genomic

NG_012159.2 RefSeqGene

Range

4979..65500

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001375397.1 → NP_001362326.1 serine/threonine-protein kinase ICK isoform 2

Status: REVIEWED

Source sequence(s)

AL031178, AL162581

Consensus CDS

CCDS93933.1

UniProtKB/TrEMBL

A0A7I2PIU1, B3KQG4

Related

ENSP00000263043.8, ENST00000350082.10

Conserved Domains (1) summary

cd07830
Location:4 → 284

STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
NM_001375398.1 → NP_001362327.1 serine/threonine-protein kinase ICK isoform 1

Status: REVIEWED

Source sequence(s)

AL031178, AL162581

Consensus CDS

CCDS4949.1

UniProtKB/Swiss-Prot

A7MD41, O75985, Q5THL2, Q8IYH8, Q9BX17, Q9NYX3, Q9UPZ9

UniProtKB/TrEMBL

B3KQG4

Conserved Domains (1) summary

cd07830
Location:4 → 284

STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
NM_001375399.1 → NP_001362328.1 serine/threonine-protein kinase ICK isoform 1

Status: REVIEWED

Source sequence(s)

AL031178, AL162581

Consensus CDS

CCDS4949.1

UniProtKB/Swiss-Prot

A7MD41, O75985, Q5THL2, Q8IYH8, Q9BX17, Q9NYX3, Q9UPZ9

UniProtKB/TrEMBL

B3KQG4

Conserved Domains (1) summary

cd07830
Location:4 → 284

STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
NM_001375400.1 → NP_001362329.1 serine/threonine-protein kinase ICK isoform 1

Status: REVIEWED

Source sequence(s)

AL031178, AL162581

Consensus CDS

CCDS4949.1

UniProtKB/Swiss-Prot

A7MD41, O75985, Q5THL2, Q8IYH8, Q9BX17, Q9NYX3, Q9UPZ9

UniProtKB/TrEMBL

B3KQG4

Conserved Domains (1) summary

cd07830
Location:4 → 284

STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
NM_001375401.1 → NP_001362330.1 serine/threonine-protein kinase ICK isoform 1

Status: REVIEWED

Source sequence(s)

AL031178, AL162581

Consensus CDS

CCDS4949.1

UniProtKB/Swiss-Prot

A7MD41, O75985, Q5THL2, Q8IYH8, Q9BX17, Q9NYX3, Q9UPZ9

UniProtKB/TrEMBL

B3KQG4

Conserved Domains (1) summary

cd07830
Location:4 → 284

STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
NM_001375402.1 → NP_001362331.1 serine/threonine-protein kinase ICK isoform 1

Status: REVIEWED

Source sequence(s)

AL031178, AL162581

Consensus CDS

CCDS4949.1

UniProtKB/Swiss-Prot

A7MD41, O75985, Q5THL2, Q8IYH8, Q9BX17, Q9NYX3, Q9UPZ9

UniProtKB/TrEMBL

B3KQG4

Conserved Domains (1) summary

cd07830
Location:4 → 284

STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
NM_014920.5 → NP_055735.1 serine/threonine-protein kinase ICK isoform 1

See identical proteins and their annotated locations for NP_055735.1

Status: REVIEWED

Source sequence(s)

AL031178, AL162581

Consensus CDS

CCDS4949.1

UniProtKB/Swiss-Prot

A7MD41, O75985, Q5THL2, Q8IYH8, Q9BX17, Q9NYX3, Q9UPZ9

UniProtKB/TrEMBL

B3KQG4

Related

ENSP00000501692.1, ENST00000676107.1

Conserved Domains (1) summary

cd07830
Location:4 → 284

STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
NM_016513.5 → NP_057597.2 serine/threonine-protein kinase ICK isoform 1

See identical proteins and their annotated locations for NP_057597.2

Status: REVIEWED

Source sequence(s)

AL031178, AL162581

Consensus CDS

CCDS4949.1

UniProtKB/Swiss-Prot

A7MD41, O75985, Q5THL2, Q8IYH8, Q9BX17, Q9NYX3, Q9UPZ9

UniProtKB/TrEMBL

B3KQG4

Related

ENSP00000349458.3, ENST00000356971.3

Conserved Domains (1) summary

cd07830
Location:4 → 284

STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases

RNA

NR_164684.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL031178, AL162581

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

53001303..53061824 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060930.1 Alternate T2T-CHM13v2.0

Range

52840881..52901428 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_173041.1: Suppressed sequence

Description

NM_173041.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.