Human Gene ILK (uc001mef.3)
  Description: Homo sapiens integrin-linked kinase (ILK), transcript variant 1, mRNA.
RefSeq Summary (NM_004517): 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].
Transcript (Including UTRs)
   Position: hg19 chr11:6,624,964-6,632,099 Size: 7,136 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg19 chr11:6,625,502-6,631,842 Size: 6,341 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:6,624,964-6,632,099)mRNA (may differ from genome)Protein (452 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
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MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ILK_HUMAN
DESCRIPTION: RecName: Full=Integrin-linked protein kinase; EC=2.7.11.1; AltName: Full=59 kDa serine/threonine-protein kinase; AltName: Full=ILK-1; AltName: Full=ILK-2; AltName: Full=p59ILK;
FUNCTION: Receptor-proximal protein kinase regulating integrin- mediated signal transduction. May act as a mediator of inside-out integrin signaling. Focal adhesion protein part of the complex ILK-PINCH. This complex is considered to be one of the convergence points of integrin- and growth factor-signaling pathway. Could be implicated in mediating cell architecture, adhesion to integrin substrates and anchorage-dependent growth in epithelial cells. Phosphorylates beta-1 and beta-3 integrin subunit on serine and threonine residues, but also AKT1 and GSK3B.
CATALYTIC ACTIVITY: ATP + a protein = ADP + a phosphoprotein.
ENZYME REGULATION: Stimulated rapidly but transiently by both cell fibronectin interactions, as well as by insulin, in a PI3-K- dependent manner, likely via the binding of PtdIns(3,4,5)P3 with a PH-like domain of ILK.
SUBUNIT: Interacts with cytoplasmic domain of beta 1 subunit of integrin. Could also interacts with beta 2, beta 3 and/or beta 5 subunit of integrin. Interacts (via ANK repeats) with LIMS1 and LIMS2. Interacts with parvins and probably TGFB1I1. Interacts (via ANK repeats) with EPHA1 (via SAM domain); stimulated by EFNA1 but independent of the kinase activity of EPHA1.
INTERACTION: Q14790:CASP8; NbExp=2; IntAct=EBI-747644, EBI-78060; P55211:CASP9; NbExp=2; IntAct=EBI-747644, EBI-516799; Q9H0C8:ILKAP; NbExp=3; IntAct=EBI-747644, EBI-2620298; Q9NVD7:PARVA; NbExp=2; IntAct=EBI-747644, EBI-747655; Q6R327:RICTOR; NbExp=8; IntAct=EBI-747644, EBI-1387196; Q9BWU0:SLC4A1AP; NbExp=8; IntAct=EBI-747644, EBI-1999704; Q9UMS6:SYNPO2; NbExp=6; IntAct=EBI-747644, EBI-3453434;
SUBCELLULAR LOCATION: Cell junction, focal adhesion. Cell membrane; Peripheral membrane protein; Cytoplasmic side.
TISSUE SPECIFICITY: Highly expressed in heart followed by skeletal muscle, pancreas and kidney. Weakly expressed in placenta, lung and liver.
DOMAIN: A PH-like domain is involved in phosphatidylinositol phosphate binding.
PTM: Autophosphorylated on serine residues.
SIMILARITY: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family.
SIMILARITY: Contains 5 ANK repeats.
SIMILARITY: Contains 1 protein kinase domain.
SEQUENCE CAUTION: Sequence=CAB94832.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact. Was originally thought to be distinct gene (ILK2) (PubMed:10871859);

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ILK
CDC HuGE Published Literature: ILK

-  MalaCards Disease Associations
  MalaCards Gene Search: ILK
Diseases sorted by gene-association score: scar contracture (13), focal segmental glomerulosclerosis (4), lung cancer (2), ovarian cancer, somatic (2), stomach cancer (2), dilated cardiomyopathy (1), prostate cancer (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 162.72 RPKM in Colon - Sigmoid
Total median expression: 2608.53 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -86.20181-0.476 Picture PostScript Text
3' UTR -93.30257-0.363 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002110 - Ankyrin_rpt
IPR020683 - Ankyrin_rpt-contain_dom
IPR016253 - Integrin-linked_kinase
IPR011009 - Kinase-like_dom
IPR000719 - Prot_kinase_cat_dom
IPR001245 - Ser-Thr/Tyr_kinase_cat_dom

Pfam Domains:
PF00023 - Ankyrin repeat
PF00069 - Protein kinase domain
PF07714 - Protein tyrosine kinase
PF12796 - Ankyrin repeats (3 copies)
PF13606 - Ankyrin repeat
PF13637 - Ankyrin repeats (many copies)
PF13857 - Ankyrin repeats (many copies)

SCOP Domains:
56112 - Protein kinase-like (PK-like)
48403 - Ankyrin repeat

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2KBX - NMR MuPIT 3F6Q - X-ray MuPIT 3IXE - X-ray MuPIT 3KMU - X-ray MuPIT 3KMW - X-ray MuPIT 3REP - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q13418
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004672 protein kinase activity
GO:0004674 protein serine/threonine kinase activity
GO:0004871 signal transducer activity
GO:0005178 integrin binding
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016740 transferase activity
GO:0017124 SH3 domain binding
GO:0019901 protein kinase binding
GO:0019904 protein domain specific binding

Biological Process:
GO:0000165 MAPK cascade
GO:0001558 regulation of cell growth
GO:0001658 branching involved in ureteric bud morphogenesis
GO:0001934 positive regulation of protein phosphorylation
GO:0001954 positive regulation of cell-matrix adhesion
GO:0003151 outflow tract morphogenesis
GO:0006468 protein phosphorylation
GO:0006469 negative regulation of protein kinase activity
GO:0007050 cell cycle arrest
GO:0007160 cell-matrix adhesion
GO:0007229 integrin-mediated signaling pathway
GO:0007275 multicellular organism development
GO:0007569 cell aging
GO:0008283 cell proliferation
GO:0008284 positive regulation of cell proliferation
GO:0009967 positive regulation of signal transduction
GO:0010667 negative regulation of cardiac muscle cell apoptotic process
GO:0010761 fibroblast migration
GO:0014044 Schwann cell development
GO:0014912 negative regulation of smooth muscle cell migration
GO:0016310 phosphorylation
GO:0018105 peptidyl-serine phosphorylation
GO:0021675 nerve development
GO:0022011 myelination in peripheral nervous system
GO:0030030 cell projection organization
GO:0030335 positive regulation of cell migration
GO:0030513 positive regulation of BMP signaling pathway
GO:0032288 myelin assembly
GO:0032956 regulation of actin cytoskeleton organization
GO:0033209 tumor necrosis factor-mediated signaling pathway
GO:0034329 cell junction assembly
GO:0034446 substrate adhesion-dependent cell spreading
GO:0042327 positive regulation of phosphorylation
GO:0043066 negative regulation of apoptotic process
GO:0043406 positive regulation of MAP kinase activity
GO:0043410 positive regulation of MAPK cascade
GO:0043491 protein kinase B signaling
GO:0043524 negative regulation of neuron apoptotic process
GO:0045197 establishment or maintenance of epithelial cell apical/basal polarity
GO:0045663 positive regulation of myoblast differentiation
GO:0045669 positive regulation of osteoblast differentiation
GO:0045773 positive regulation of axon extension
GO:0045893 positive regulation of transcription, DNA-templated
GO:0048662 negative regulation of smooth muscle cell proliferation
GO:0048812 neuron projection morphogenesis
GO:0050772 positive regulation of axonogenesis
GO:0050775 positive regulation of dendrite morphogenesis
GO:0051291 protein heterooligomerization
GO:0051897 positive regulation of protein kinase B signaling
GO:0070527 platelet aggregation
GO:0090263 positive regulation of canonical Wnt signaling pathway
GO:0097435 supramolecular fiber organization
GO:1901224 positive regulation of NIK/NF-kappaB signaling
GO:2000178 negative regulation of neural precursor cell proliferation

Cellular Component:
GO:0001725 stress fiber
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005911 cell-cell junction
GO:0005925 focal adhesion
GO:0016020 membrane
GO:0030017 sarcomere
GO:0030027 lamellipodium
GO:0030054 cell junction
GO:0030424 axon
GO:0032991 macromolecular complex
GO:0042995 cell projection
GO:0043025 neuronal cell body
GO:0043034 costamere
GO:0043195 terminal bouton
GO:0043198 dendritic shaft


-  Descriptions from all associated GenBank mRNAs
  LF207829 - JP 2014500723-A/15332: Polycomb-Associated Non-Coding RNAs.
LF207831 - JP 2014500723-A/15334: Polycomb-Associated Non-Coding RNAs.
AK293474 - Homo sapiens cDNA FLJ53825 complete cds, highly similar to Integrin-linked protein kinase 1 (EC 2.7.11.1).
AK314843 - Homo sapiens cDNA, FLJ95734.
U40282 - Homo sapiens integrin-linked kinase (ILK) mRNA, complete cds.
AK296628 - Homo sapiens cDNA FLJ50979 complete cds, moderately similar to Integrin-linked protein kinase (EC 2.7.11.1).
BC001554 - Homo sapiens integrin-linked kinase, mRNA (cDNA clone MGC:5051 IMAGE:3457801), complete cds.
AB209416 - Homo sapiens mRNA for integrin-linked kinase variant protein.
CR749220 - Homo sapiens mRNA; cDNA DKFZp686F1765 (from clone DKFZp686F1765).
EU794625 - Homo sapiens epididymis secretory protein Li 28 (HEL-S-28) mRNA, complete cds.
JD038744 - Sequence 19768 from Patent EP1572962.
JD555098 - Sequence 536122 from Patent EP1572962.
KJ897056 - Synthetic construct Homo sapiens clone ccsbBroadEn_06450 ILK gene, encodes complete protein.
KJ905216 - Synthetic construct Homo sapiens clone ccsbBroadEn_14673 ILK gene, encodes complete protein.
KR709573 - Synthetic construct Homo sapiens clone CCSBHm_00003606 ILK (ILK) mRNA, encodes complete protein.
CU674762 - Synthetic construct Homo sapiens gateway clone IMAGE:100019468 5' read ILK mRNA.
AB463785 - Synthetic construct DNA, clone: pF1KB8187, Homo sapiens ILK gene for integrin-linked kinase, without stop codon, in Flexi system.
CR407673 - Homo sapiens full open reading frame cDNA clone RZPDo834B113D for gene ILK, integrin-linked kinase complete cds, without stopcodon.
DQ891172 - Synthetic construct clone IMAGE:100003802; FLH178834.01X; RZPDo839H08128D integrin-linked kinase (ILK) gene, encodes complete protein.
DQ894355 - Synthetic construct Homo sapiens clone IMAGE:100008815; FLH178830.01L; RZPDo839H08127D integrin-linked kinase (ILK) gene, encodes complete protein.
LF369387 - JP 2014500723-A/176890: Polycomb-Associated Non-Coding RNAs.
JD158576 - Sequence 139600 from Patent EP1572962.
LF369392 - JP 2014500723-A/176895: Polycomb-Associated Non-Coding RNAs.
JD521671 - Sequence 502695 from Patent EP1572962.
JD060336 - Sequence 41360 from Patent EP1572962.
JD293820 - Sequence 274844 from Patent EP1572962.
JD527351 - Sequence 508375 from Patent EP1572962.
JD518710 - Sequence 499734 from Patent EP1572962.
JD384971 - Sequence 365995 from Patent EP1572962.
LF369393 - JP 2014500723-A/176896: Polycomb-Associated Non-Coding RNAs.
JD445947 - Sequence 426971 from Patent EP1572962.
MA604964 - JP 2018138019-A/176890: Polycomb-Associated Non-Coding RNAs.
MA604969 - JP 2018138019-A/176895: Polycomb-Associated Non-Coding RNAs.
MA604970 - JP 2018138019-A/176896: Polycomb-Associated Non-Coding RNAs.
MA443406 - JP 2018138019-A/15332: Polycomb-Associated Non-Coding RNAs.
MA443408 - JP 2018138019-A/15334: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa03320 - PPAR signaling pathway
hsa04510 - Focal adhesion
hsa05100 - Bacterial invasion of epithelial cells
hsa05213 - Endometrial cancer

BioCarta from NCI Cancer Genome Anatomy Project
h_ptenPathway - PTEN dependent cell cycle arrest and apoptosis

Reactome (by CSHL, EBI, and GO)

Protein Q13418 (Reactome details) participates in the following event(s):

R-HSA-432897 ILK interacts with beta-1 integrin
R-HSA-446391 Formation of the PINCH-ILK-parvin complex
R-HSA-446343 Localization of the PINCH-ILK-PARVIN complex to focal adhesions
R-HSA-446353 Cell-extracellular matrix interactions
R-HSA-446728 Cell junction organization
R-HSA-1500931 Cell-Cell communication

-  Other Names for This Gene
  Alternate Gene Symbols: D3DQU0, ILK1, ILK2, ILK_HUMAN, NM_004517, NP_004508, P57043, Q13418, Q68DZ3
UCSC ID: uc001mef.3
RefSeq Accession: NM_004517
Protein: Q13418 (aka ILK_HUMAN)
CCDS: CCDS7768.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_004517.2
exon count: 13CDS single in 3' UTR: no RNA size: 1817
ORF size: 1359CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2918.00frame shift in genome: no % Coverage: 98.90
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.