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

Gene ID: 6992, updated on 27-Nov-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: 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. 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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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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