ILK integrin linked kinase [Homo sapiens (human)] - Gene

Summary

Official Symbol: ILKprovided by HGNC
Official Full Name: integrin linked kinaseprovided by HGNC
Primary source: HGNC:HGNC:6040
See related: Ensembl:ENSG00000166333 MIM:602366
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: P59; ILK-1; ILK-2; p59ILK; HEL-S-28
Summary: This gene encodes a protein with a kinase-like domain and four ankyrin-like repeats. The encoded protein associates at the cell membrane with the cytoplasmic domain of beta integrins, where it regulates integrin-mediated signal transduction. Activity of this protein is important in the epithelial to mesenchymal transition, and over-expression of this gene is implicated in tumor growth and metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
Expression: Ubiquitous expression in endometrium (RPKM 90.1), prostate (RPKM 80.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p15.4

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
109.20201120	current	GRCh38.p13 (GCF_000001405.39)	11	NC_000011.10 (6603748..6610873)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (6624938..6632105)

Chromosome 11 - NC_000011.10 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
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?

Bioinformatics analysis suggested that ILK expression was elevated in ESCC tissues. Further validation indicated that expression of ILK was positively correlated with poor prognosis. Inhibition of ILK kinase activity by specific inhibitor termed Compound 22 (cpd22) blocked ESCC cells proliferation, invasion and migration and attenuated AKT phosphorylation.
Title: Integrin-Linked Kinase Is Involved In the Proliferation and Invasion of Esophageal Squamous Cell Carcinoma.
Drug resistance is closely associated with the inactivation of the hippo pathway protein Merlin/MST/LATS and the activation of YAP.
Title: Matrix stiffness modulates ILK-mediated YAP activation to control the drug resistance of breast cancer cells.
knockdown of ILK in periodontal ligament fibroblasts treated with mechanical stretching altered the composition of small-molecule metabolites
Title: Effect of ILK on small-molecule metabolism of human periodontal ligament fibroblasts with mechanical stretching.
Three loss-of-function mutations in human ILK were identified in genomic DNA samples from exudative retinopathy patients.
Title: Integrin-linked kinase controls retinal angiogenesis and is linked to Wnt signaling and exudative vitreoretinopathy.
Data indicate that ILK facilitates mechanosensitive VEGFR3 signaling and physiologic lymph vessel expansion by controlling beta1 integrin-mediated VEGFR3 activation.
Title: Identification of ILK as a critical regulator of VEGFR3 signalling and lymphatic vascular growth.
The expression of ILK was significantly correlated with differentiation and metastasis of the laryngeal carcinomas. The inhibition of the ILK gene could downregulate the proliferation, migration and invasion of Hep-2 human laryngeal squamous cell carcinoma cells. Data suggested that ILK acts as an oncogene in laryngeal squamous cell carcinoma.
Title: Integrin-linked kinase is overexpressed in laryngeal squamous cell carcinoma and correlates with tumor proliferation, migration and invasion.
findings provide genetic and functional evidence that ILK is a cardiomyopathy disease gene and highlight its relevance for diagnosis and genetic counseling of inherited cardiomyopathies
Title: Mutations in ILK, encoding integrin-linked kinase, are associated with arrhythmogenic cardiomyopathy.
Results found that ILK was highly expressed in EGFR-mutation positive non-small cell lung cancer and an independent poor prognostic factor for the progression-free survival of the patients.
Title: Integrin-linked kinase (ILK) and src homology 2 domain-containing phosphatase 2 (SHP2): Novel targets in EGFR-mutation positive non-small cell lung cancer (NSCLC).
Study found that both SDPR and ILK regulate the expression of ALDH1 in endometrioid carcinoma. Further results revealed that the localization of ILK at the cell cortex was disrupted by SDPR knockout, potentially interfering with ILK signaling.
Title: Serum deprivation-response protein regulates aldehyde dehydrogenase 1 through integrin-linked kinase signaling in endometrioid carcinoma cells.
high expression enhanced the migration and invasion abilities of endometrial stromal cells by facilitating the epithelial-mesenchymal transition; crucial role in the pathogenesis of endometriosis
Title: ILK enhances migration and invasion abilities of human endometrial stromal cells by facilitating the epithelial-mesenchymal transition.

Submit: New GeneRIF Correction See all GeneRIFs (225)

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

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

D8S2279 (e-PCR)
- UniSTS:473907

L18426 (e-PCR)
- UniSTS:34648

WI-22555 (e-PCR)
- UniSTS:5777

RH12375 (e-PCR)
- UniSTS:23970

WI-12713 (e-PCR)
- UniSTS:10454

A002C40 (e-PCR)
- UniSTS:5081

KS608 (e-PCR)
- UniSTS:253179

Homology

Homologs of the ILK gene: The ILK gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, and frog.
Orthologs from Annotation Pipeline: 327 organisms have orthologs with human gene ILK
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein kinase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
protein serine kinase activity	IEA Inferred from Electronic Annotation more info
protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed
protein threonine kinase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
cell junction assembly	TAS Traceable Author Statement more info
cell morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
cell-matrix adhesion	IBA Inferred from Biological aspect of Ancestor more info	PubMed
integrin-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
integrin-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
platelet aggregation	HMP more info	PubMed
positive regulation of NIK/NF-kappaB signaling	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of protein phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of substrate adhesion-dependent cell spreading	IGI Inferred from Genetic Interaction more info	PubMed
positive regulation of transcription, DNA-templated	IMP Inferred from Mutant Phenotype more info	PubMed
protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
substrate adhesion-dependent cell spreading	IBA Inferred from Biological aspect of Ancestor more info	PubMed
substrate adhesion-dependent cell spreading	IMP Inferred from Mutant Phenotype more info	PubMed
tumor necrosis factor-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
cytosol	TAS Traceable Author Statement more info
focal adhesion	HDA more info	PubMed
focal adhesion	IBA Inferred from Biological aspect of Ancestor more info	PubMed
focal adhesion	IDA Inferred from Direct Assay more info	PubMed
lamellipodium	IEA Inferred from Electronic Annotation more info
membrane	HDA more info	PubMed
nucleoplasm	IDA Inferred from Direct Assay more info
plasma membrane	IDA Inferred from Direct Assay more info
sarcomere	IEA Inferred from Electronic Annotation more info
colocalizes_with stress fiber	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

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Preferred Names: integrin-linked protein kinase

Names: 59 kDa serine/threonine-protein kinase; epididymis secretory protein Li 28; integrin-linked kinase-2

NP_001014794.1

EC 2.7.11.1

NP_001014795.1

EC 2.7.11.1

NP_001265370.1

EC 2.7.11.1

NP_001265371.1

EC 2.7.11.1

NP_004508.1

EC 2.7.11.1

XP_005252961.1

EC 2.7.11.1

XP_005252962.1

EC 2.7.11.1

XP_011518367.1

EC 2.7.11.1

XP_016873161.1

EC 2.7.11.1

XP_024304262.1

EC 2.7.11.1

XP_024304263.1

EC 2.7.11.1

XP_024304264.1

EC 2.7.11.1

XP_024304265.1

EC 2.7.11.1

XP_024304266.1

EC 2.7.11.1

XP_024304267.1

EC 2.7.11.1

XP_024304268.1

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.

Genomic

NG_029702.1 RefSeqGene

Range

4975..12142

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_444

mRNA and Protein(s)

NM_001014794.3 → NP_001014794.1 integrin-linked protein kinase isoform 1

See identical proteins and their annotated locations for NP_001014794.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same isoform (1).

Source sequence(s)

BC001554, DC380243, HY257434, U40282

Consensus CDS

CCDS7768.1

UniProtKB/Swiss-Prot

Q13418

UniProtKB/TrEMBL

V9HWF0

Related

ENSP00000403487.2, ENST00000420936.6

Conserved Domains (4) summary

cd14057
Location:197 → 449

PK_ILK; Pseudokinase domain of Integrin Linked Kinase

sd00045
Location:33 → 64

ANK; ANK repeat [structural motif]

pfam12796
Location:38 → 124

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:4 → 54

Ank_4; Ankyrin repeats (many copies)
NM_001014795.3 → NP_001014795.1 integrin-linked protein kinase isoform 1

See identical proteins and their annotated locations for NP_001014795.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same isoform (1).

Source sequence(s)

AC091564, CR749220, DC379936, HY257434, U40282

Consensus CDS

CCDS7768.1

UniProtKB/Swiss-Prot

Q13418

UniProtKB/TrEMBL

V9HWF0

Related

ENSP00000379975.2, ENST00000396751.6

Conserved Domains (4) summary

cd14057
Location:197 → 449

PK_ILK; Pseudokinase domain of Integrin Linked Kinase

sd00045
Location:33 → 64

ANK; ANK repeat [structural motif]

pfam12796
Location:38 → 124

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:4 → 54

Ank_4; Ankyrin repeats (many copies)
NM_001278441.2 → NP_001265370.1 integrin-linked protein kinase isoform 2

See identical proteins and their annotated locations for NP_001265370.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks two alternate exons in the coding region, which results in a section that contains a frameshift, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AC091564, AK296628, DC380243, HY257434, U40282

Consensus CDS

CCDS60712.1

UniProtKB/Swiss-Prot

Q13418

Related

ENSP00000435323.1, ENST00000528995.5

Conserved Domains (3) summary

cd00204
Location:28 → 117

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

cd14057
Location:144 → 388

PK_ILK; Pseudokinase domain of Integrin Linked Kinase

sd00045
Location:33 → 64

ANK; ANK repeat [structural motif]
NM_001278442.2 → NP_001265371.1 integrin-linked protein kinase isoform 3

See identical proteins and their annotated locations for NP_001265371.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) uses an alternate splice site in the 5' UTR, lacks an exon in the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AK293474

Consensus CDS

CCDS60713.1

UniProtKB/Swiss-Prot

Q13418

Related

ENSP00000434492.2, ENST00000532063.5

Conserved Domains (1) summary

cd14057
Location:63 → 315

PK_ILK; Pseudokinase domain of Integrin Linked Kinase
NM_004517.4 → NP_004508.1 integrin-linked protein kinase isoform 1

See identical proteins and their annotated locations for NP_004508.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform 1. Variants 1, 2, and 3 encode the same isoform (1).

Source sequence(s)

DC380243, HY257434, U40282

Consensus CDS

CCDS7768.1

UniProtKB/Swiss-Prot

Q13418

UniProtKB/TrEMBL

V9HWF0

Related

ENSP00000299421.3, ENST00000299421.8

Conserved Domains (4) summary

cd14057
Location:197 → 449

PK_ILK; Pseudokinase domain of Integrin Linked Kinase

sd00045
Location:33 → 64

ANK; ANK repeat [structural motif]

pfam12796
Location:38 → 124

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:4 → 54

Ank_4; Ankyrin repeats (many copies)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p13 Primary Assembly

Range

6603748..6610873

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024448499.1 → XP_024304267.1 integrin-linked protein kinase isoform X3

Conserved Domains (3) summary

cd14057
Location:146 → 398

PK_ILK; Pseudokinase domain of Integrin Linked Kinase

sd00045
Location:15 → 46

ANK; ANK repeat [structural motif]

pfam12796
Location:2 → 73

Ank_2; Ankyrin repeats (3 copies)
XM_017017672.1 → XP_016873161.1 integrin-linked protein kinase isoform X3

Conserved Domains (3) summary

cd14057
Location:146 → 398

PK_ILK; Pseudokinase domain of Integrin Linked Kinase

sd00045
Location:15 → 46

ANK; ANK repeat [structural motif]

pfam12796
Location:2 → 73

Ank_2; Ankyrin repeats (3 copies)
XM_005252904.5 → XP_005252961.1 integrin-linked protein kinase isoform X2

See identical proteins and their annotated locations for XP_005252961.1

UniProtKB/Swiss-Prot

Q13418

UniProtKB/TrEMBL

V9HWF0

Conserved Domains (4) summary

cd14057
Location:197 → 449

PK_ILK; Pseudokinase domain of Integrin Linked Kinase

sd00045
Location:33 → 64

ANK; ANK repeat [structural motif]

pfam12796
Location:38 → 124

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:4 → 54

Ank_4; Ankyrin repeats (many copies)
XM_024448495.1 → XP_024304263.1 integrin-linked protein kinase isoform X1

Related

ENST00000530016.5

Conserved Domains (3) summary

cd00204
Location:28 → 140

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

cd14057
Location:228 → 480

PK_ILK; Pseudokinase domain of Integrin Linked Kinase

sd00045
Location:33 → 64

ANK; ANK repeat [structural motif]
XM_024448494.1 → XP_024304262.1 integrin-linked protein kinase isoform X1

Related

ENSP00000439606.2, ENST00000537806.5

Conserved Domains (3) summary

cd00204
Location:28 → 140

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

cd14057
Location:228 → 480

PK_ILK; Pseudokinase domain of Integrin Linked Kinase

sd00045
Location:33 → 64

ANK; ANK repeat [structural motif]
XM_024448498.1 → XP_024304266.1 integrin-linked protein kinase isoform X3

Conserved Domains (3) summary

cd14057
Location:146 → 398

PK_ILK; Pseudokinase domain of Integrin Linked Kinase

sd00045
Location:15 → 46

ANK; ANK repeat [structural motif]

pfam12796
Location:2 → 73

Ank_2; Ankyrin repeats (3 copies)
XM_024448500.1 → XP_024304268.1 integrin-linked protein kinase isoform X4

Conserved Domains (1) summary

cd14057
Location:94 → 346

PK_ILK; Pseudokinase domain of Integrin Linked Kinase
XM_005252905.3 → XP_005252962.1 integrin-linked protein kinase isoform X5

See identical proteins and their annotated locations for XP_005252962.1

UniProtKB/Swiss-Prot

Q13418

Conserved Domains (1) summary

cd14057
Location:63 → 315

PK_ILK; Pseudokinase domain of Integrin Linked Kinase
XM_024448496.1 → XP_024304264.1 integrin-linked protein kinase isoform X1

Conserved Domains (3) summary

cd00204
Location:28 → 140

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

cd14057
Location:228 → 480

PK_ILK; Pseudokinase domain of Integrin Linked Kinase

sd00045
Location:33 → 64

ANK; ANK repeat [structural motif]
XM_011520065.1 → XP_011518367.1 integrin-linked protein kinase isoform X2

See identical proteins and their annotated locations for XP_011518367.1

UniProtKB/Swiss-Prot

Q13418

UniProtKB/TrEMBL

V9HWF0

Conserved Domains (4) summary

cd14057
Location:197 → 449

PK_ILK; Pseudokinase domain of Integrin Linked Kinase

sd00045
Location:33 → 64

ANK; ANK repeat [structural motif]

pfam12796
Location:38 → 124

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:4 → 54

Ank_4; Ankyrin repeats (many copies)
XM_024448497.1 → XP_024304265.1 integrin-linked protein kinase isoform X1

Conserved Domains (3) summary

cd00204
Location:28 → 140

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

cd14057
Location:228 → 480

PK_ILK; Pseudokinase domain of Integrin Linked Kinase

sd00045
Location:33 → 64

ANK; ANK repeat [structural motif]