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    PPP1R11 protein phosphatase 1 regulatory inhibitor subunit 11 [ Homo sapiens (human) ]

    Gene ID: 6992, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PPP1R11provided by HGNC
    Official Full Name
    protein phosphatase 1 regulatory inhibitor subunit 11provided by HGNC
    Primary source
    HGNC:HGNC:9285
    See related
    Ensembl:ENSG00000204619 MIM:606670; AllianceGenome:HGNC:9285
    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
    HCGV; IPP3; HCG-V; TCTE5; TCTEX5; CFAP255
    Summary
    This gene encodes a specific inhibitor of protein phosphatase-1 (PP1) with a differential sensitivity toward the metal-independent and metal-dependent forms of PP1. The gene is located within the major histocompatibility complex class I region on chromosome 6. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in small intestine (RPKM 46.4), thyroid (RPKM 45.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PPP1R11 in Genome Data Viewer
    Location:
    6p22.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (30061265..30070333)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (29931133..29934607)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (30034975..30038110)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene POLR1H antisense, pseudogene Neighboring gene major histocompatibility complex, class I, J (pseudogene) Neighboring gene eukaryotic translation termination factor 1 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:30028069-30028935 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:30028936-30029801 Neighboring gene RNA polymerase I subunit H Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:30041647-30042322 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:30042323-30042996 Neighboring gene ring finger protein 39 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:30068196-30068705 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:30070193-30070692 Neighboring gene TRIM31 antisense RNA 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:30080310-30081509 Neighboring gene tripartite motif containing 31 Neighboring gene small nucleolar RNA SNORA48

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Identification of the interaction sites of Inhibitor-3 for protein phosphatase-1. Zhang L, et al. Biochem Biophys Res Commun, 2008 Dec 12. PMID 18951879, Free PMC Article
    2. Inhibitor-3 ensures bipolar mitotic spindle attachment by limiting association of SDS22 with kinetochore-bound protein phosphatase-1. Eiteneuer A, et al. EMBO J, 2014 Nov 18. PMID 25298395, Free PMC Article
    3. Localization of seven new genes around the HLA-A locus. el Kahloun A, et al. Hum Mol Genet, 1993 Jan. PMID 8490624
    4. Cloning of a human homologue of the mouse Tctex-5 gene within the MHC class I region. Giffon T, et al. Immunogenetics, 1996. PMID 8781118
    5. Systematic sequencing of the human HLA-A/HLA-F region: establishment of a cosmid contig and identification of a new gene cluster within 37 kb of sequence. Lepourcelet M, et al. Genomics, 1996 Nov 1. PMID 8938444

    See all (49) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Lentiviral gene transfer or knockdown of PPP1R11 in mouse lungs significantly affects lung inflammation and the clearance of Staphylococcus aureus. There is a negative correlation between PPP1R11 and TLR2 levels in white blood cell samples isolated from patients with Staphylococcus aureus infections
      Title: RING finger E3 ligase PPP1R11 regulates TLR2 signaling and innate immunity.
    2. a model in which I3 regulates an SDS22-mediated PP1 activation step in solution that precedes SDS22 dissociation and transfer of PP1 to kinetochores, and which is required for PP1 to efficiently antagonize Aurora B.
      Title: Inhibitor-3 ensures bipolar mitotic spindle attachment by limiting association of SDS22 with kinetochore-bound protein phosphatase-1.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.
    4. Inh3 has two domains that are required for its interaction with PP1.
      Title: Identification of the interaction sites of Inhibitor-3 for protein phosphatase-1.
    5. inhibitor-3 is an in vivo target of caspase-3 and participates in the apoptotic response
      Title: Protein phosphatase-1 inhibitor-3 is an in vivo target of caspase-3 and participates in the apoptotic response.
    6. Sds22 and Inhibitor-3 form a heterotrimeric complex with PP1, both in cell lysates and after purification. A pool of PP1 is complexly controlled by both Sds22 and Inhibitor-3.
      Title: A complex of catalytically inactive protein phosphatase-1 sandwiched between Sds22 and inhibitor-3.
    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 multiple loci influencing human serum metabolite levels.
    EBI GWAS Catalog
    Genome-wide association study of proneness to anger.
    EBI GWAS Catalog
    Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02).
    EBI GWAS Catalog
    Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
    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)

    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

    • MGC125741, MGC125742, MGC125743

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatase binding EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables phosphatase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein phosphatase 1 binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein phosphatase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein serine/threonine phosphatase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin protein ligase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in defense response to Gram-positive bacterium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of cytokine production ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    E3 ubiquitin-protein ligase PPP1R11
    Names
    HCG V
    hemochromatosis candidate gene V protein
    inhibitor-3
    protein phosphatase 1 regulatory subunit 11
    protein phosphatase inhibitor 3
    t-complex-associated-testis-expressed 5
    NP_068778.1
    XP_047275235.1
    XP_047275236.1
    XP_054184480.1
    XP_054184481.1
    XP_054185834.1
    XP_054185835.1
    XP_054186318.1
    XP_054186319.1
    XP_054186599.1
    XP_054186834.1
    XP_054186835.1
    XP_054187095.1
    XP_054187354.1
    XP_054212254.1
    XP_054212255.1

    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_021959.3 → NP_068778.1  E3 ubiquitin-protein ligase PPP1R11

      See identical proteins and their annotated locations for NP_068778.1

      Status: REVIEWED

      Source sequence(s)
      AL669914, CB126242
      Consensus CDS
      CCDS4671.1
      UniProtKB/Swiss-Prot
      O60927
      UniProtKB/TrEMBL
      A2BEK1
      Related
      ENSP00000365963.3, ENST00000376772.8
      Conserved Domains (1) summary
      pfam07491
      Location:29 → 71
      PPI_Ypi1; Protein phosphatase inhibitor

    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

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      30061265..30070333
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419279.1 → XP_047275235.1  E3 ubiquitin-protein ligase PPP1R11 isoform X1

      UniProtKB/Swiss-Prot
      O60927
      UniProtKB/TrEMBL
      A2BEK1

    2. XM_047419280.1 → XP_047275236.1  E3 ubiquitin-protein ligase PPP1R11 isoform X1

      UniProtKB/Swiss-Prot
      O60927
      UniProtKB/TrEMBL
      A2BEK1

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_167244.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      1324951..1328425
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328506.1 → XP_054184481.1  E3 ubiquitin-protein ligase PPP1R11 isoform X2

    2. XM_054328505.1 → XP_054184480.1  E3 ubiquitin-protein ligase PPP1R11 isoform X1

      UniProtKB/Swiss-Prot
      O60927
      UniProtKB/TrEMBL
      A2BEK1

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      1546630..1550104
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329860.1 → XP_054185835.1  E3 ubiquitin-protein ligase PPP1R11 isoform X3

    2. XM_054329859.1 → XP_054185834.1  E3 ubiquitin-protein ligase PPP1R11 isoform X1

      UniProtKB/Swiss-Prot
      O60927
      UniProtKB/TrEMBL
      A2BEK1

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      1322775..1326249
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330344.1 → XP_054186319.1  E3 ubiquitin-protein ligase PPP1R11 isoform X4

    2. XM_054330343.1 → XP_054186318.1  E3 ubiquitin-protein ligase PPP1R11 isoform X1

      UniProtKB/Swiss-Prot
      O60927
      UniProtKB/TrEMBL
      A2BEK1

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      1327875..1331083
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330624.1 → XP_054186599.1  E3 ubiquitin-protein ligase PPP1R11 isoform X5

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      1410949..1414423
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330860.1 → XP_054186835.1  E3 ubiquitin-protein ligase PPP1R11 isoform X6

    2. XM_054330859.1 → XP_054186834.1  E3 ubiquitin-protein ligase PPP1R11 isoform X1

      UniProtKB/Swiss-Prot
      O60927
      UniProtKB/TrEMBL
      A2BEK1

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      1322018..1325493
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331120.1 → XP_054187095.1  E3 ubiquitin-protein ligase PPP1R11 isoform X7

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      1365778..1369252
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331379.1 → XP_054187354.1  E3 ubiquitin-protein ligase PPP1R11 isoform X8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      29931133..29934607
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356280.1 → XP_054212255.1  E3 ubiquitin-protein ligase PPP1R11 isoform X9

    2. XM_054356279.1 → XP_054212254.1  E3 ubiquitin-protein ligase PPP1R11 isoform X1

      UniProtKB/Swiss-Prot
      O60927
      UniProtKB/TrEMBL
      A2BEK1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_170781.1: Suppressed sequence

      Description
      NM_170781.1: 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
    O60927.1 GenPept UniProtKB/Swiss-Prot:O60927

    Gene LinkOut

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

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