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    ILKAP ILK associated serine/threonine phosphatase [ Homo sapiens (human) ]

    Gene ID: 80895, updated on 5-May-2024

    Summary

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    Official Symbol
    ILKAPprovided by HGNC
    Official Full Name
    ILK associated serine/threonine phosphataseprovided by HGNC
    Primary source
    HGNC:HGNC:15566
    See related
    Ensembl:ENSG00000132323 MIM:618909; AllianceGenome:HGNC:15566
    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
    PP2CD; PPM1O; ILKAP2; ILKAP3; PP2C-DELTA
    Summary
    The protein encoded by this gene is a protein serine/threonine phosphatase of the PP2C family. This protein can interact with integrin-linked kinase (ILK/ILK1), a regulator of integrin mediated signaling, and regulate the kinase activity of ILK. Through the interaction with ILK, this protein may selectively affect the signaling process of ILK-mediated glycogen synthase kinase 3 beta (GSK3beta), and thus participate in Wnt signaling pathway. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in bone marrow (RPKM 11.1), testis (RPKM 10.3) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See ILKAP in Genome Data Viewer
    Location:
    2q37.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (238170402..238203695, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (238660143..238693437, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (239079043..239112336, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:239049565-239050078 Neighboring gene kelch like family member 30 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239061923-239062422 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12487 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239071799-239072299 Neighboring gene erythroferrone Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17379 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:239112345-239113217 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:239124858-239125110 Neighboring gene long intergenic non-protein coding RNA 2610 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:239142883-239143384 Neighboring gene TARDBP pseudogene 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Endometrial ILKAP expression among patients with endometriosis and its association with clinical characteristics. Shao G, et al. Int J Gynaecol Obstet, 2015 Jul. PMID 25872452
    2. ILKAP regulates ILK signaling and inhibits anchorage-independent growth. Kumar AS, et al. Oncogene, 2004 Apr 22. PMID 14990992
    3. ILKAP Binding to and Dephosphorylating HIF-1α is Essential for Apoptosis Induced by Severe Hypoxia. Liu T, et al. Cell Physiol Biochem, 2018. PMID 29742494
    4. Involvement of ANXA5 and ILKAP in susceptibility to malignant melanoma. Arroyo-Berdugo Y, et al. PLoS One, 2014. PMID 24743186, Free PMC Article
    5. Characterization of nuclear localization signal in the N terminus of integrin-linked kinase-associated phosphatase (ILKAP) and its essential role in the down-regulation of RSK2 protein signaling. Zhou W, et al. J Biol Chem, 2013 Mar 1. PMID 23329845, Free PMC Article

    See all (51) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ILKAP physically interacted with HIF-1A and induced its dephosphorylation. Both the HIF-1A-p53 interaction and apoptosis relied on ILKAP.
      Title: ILKAP Binding to and Dephosphorylating HIF-1α is Essential for Apoptosis Induced by Severe Hypoxia.
    2. our data suggest an essential role of PINCH1, ILK and ILKAP for the radioresistance of p53-wildtype glioblastoma multiforme cells
      Title: ILKAP, ILK and PINCH1 control cell survival of p53-wildtype glioblastoma cells after irradiation.
    3. The expression of ILKAP was considerably lower in eutopic and ectopic endometrial samples from women with endometriosis than in control endometrium. Expression varied depending on the phase of the menstrual cycle.
      Title: Endometrial ILKAP expression among patients with endometriosis and its association with clinical characteristics.
    4. Data show involvement of ANXA5 and ILKAP in susceptibility to malignant melanoma
      Title: Involvement of ANXA5 and ILKAP in susceptibility to malignant melanoma.
    5. ILKAP is a nuclear protein that regulates cell survival and apoptosis through the regulation of RSK2 signaling.
      Title: Characterization of nuclear localization signal in the N terminus of integrin-linked kinase-associated phosphatase (ILKAP) and its essential role in the down-regulation of RSK2 protein signaling.
    6. these results suggested that palladin played a specific role in modulating the subcellular localization of the cytoplasmic ILKAP and promoting the ILKAP-induced apoptosis.
      Title: Palladin is a novel binding partner of ILKAP in eukaryotic cells.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC4846, FLJ10181, DKFZp434J2031

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables myosin phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein dephosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    integrin-linked kinase-associated serine/threonine phosphatase 2C
    Names
    integrin-linked kinase associated phosphatase
    protein phosphatase 2c, delta isozyme
    protein phosphatase, Mg2+/Mn2+ dependent 1O
    NP_110395.1
    XP_006712847.1
    XP_016860546.1
    XP_016860547.1
    XP_054200060.1
    XP_054200061.1
    XP_054200062.1

    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_030768.3 → NP_110395.1  integrin-linked kinase-associated serine/threonine phosphatase 2C

      See identical proteins and their annotated locations for NP_110395.1

      Status: REVIEWED

      Source sequence(s)
      AC016757
      Consensus CDS
      CCDS2526.1
      UniProtKB/Swiss-Prot
      B3KM39, Q9H0C8
      Related
      ENSP00000254654.3, ENST00000254654.8
      Conserved Domains (1) summary
      cd00143
      Location:108 → 390
      PP2Cc; Serine/threonine phosphatases, family 2C, catalytic domain; The protein architecture and deduced catalytic mechanism of PP2C phosphatases are similar to the PP1, PP2A, PP2B family of protein Ser/Thr phosphatases, with which PP2C shares no sequence ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      238170402..238203695 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006712784.2 → XP_006712847.1  integrin-linked kinase-associated serine/threonine phosphatase 2C isoform X1

      See identical proteins and their annotated locations for XP_006712847.1

      Conserved Domains (1) summary
      cd00143
      Location:40 → 322
      PP2Cc; Serine/threonine phosphatases, family 2C, catalytic domain; The protein architecture and deduced catalytic mechanism of PP2C phosphatases are similar to the PP1, PP2A, PP2B family of protein Ser/Thr phosphatases, with which PP2C shares no sequence ...

    2. XM_017005058.2 → XP_016860547.1  integrin-linked kinase-associated serine/threonine phosphatase 2C isoform X3

      Conserved Domains (1) summary
      cd00143
      Location:10 → 258
      PP2Cc; Serine/threonine phosphatases, family 2C, catalytic domain; The protein architecture and deduced catalytic mechanism of PP2C phosphatases are similar to the PP1, PP2A, PP2B family of protein Ser/Thr phosphatases, with which PP2C shares no sequence ...

    3. XM_017005057.2 → XP_016860546.1  integrin-linked kinase-associated serine/threonine phosphatase 2C isoform X2

      Conserved Domains (1) summary
      cd00143
      Location:1 → 270
      PP2Cc; Serine/threonine phosphatases, family 2C, catalytic domain; The protein architecture and deduced catalytic mechanism of PP2C phosphatases are similar to the PP1, PP2A, PP2B family of protein Ser/Thr phosphatases, with which PP2C shares no sequence ...

    RNA

    1. XR_007082537.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      238660143..238693437 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344085.1 → XP_054200060.1  integrin-linked kinase-associated serine/threonine phosphatase 2C isoform X1

    2. XM_054344087.1 → XP_054200062.1  integrin-linked kinase-associated serine/threonine phosphatase 2C isoform X3

    3. XM_054344086.1 → XP_054200061.1  integrin-linked kinase-associated serine/threonine phosphatase 2C isoform X2

    RNA

    1. XR_008486540.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_176799.1: Suppressed sequence

      Description
      NM_176799.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H0C8.1 GenPept UniProtKB/Swiss-Prot:Q9H0C8

    Gene LinkOut

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

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