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    PPP1R14D protein phosphatase 1 regulatory inhibitor subunit 14D [ Homo sapiens (human) ]

    Gene ID: 54866, updated on 28-Oct-2024

    Summary

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    Official Symbol
    PPP1R14Dprovided by HGNC
    Official Full Name
    protein phosphatase 1 regulatory inhibitor subunit 14Dprovided by HGNC
    Primary source
    HGNC:HGNC:14953
    See related
    Ensembl:ENSG00000166143 MIM:613256; AllianceGenome:HGNC:14953
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GBPI1; GBPI-1; CPI17-like
    Summary
    Protein phosphatase-1 (PP1; see MIM 176875) is a major cellular phosphatase that reverses serine/threonine protein phosphorylation. PPP1R14D is a PP1 inhibitor that itself is regulated by phosphorylation (Liu et al., 2004 [PubMed 12974676]).[supplied by OMIM, Feb 2010]
    Expression
    Biased expression in duodenum (RPKM 31.1), colon (RPKM 28.0) and 3 other tissues See more
    Orthologs
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    Genomic context

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    See PPP1R14D in Genome Data Viewer
    Location:
    15q15.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (40815451..40828708, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (38621477..38634737, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (41107649..41120906, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:41062076-41062694 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:41062695-41063311 Neighboring gene DnaJ heat shock protein family (Hsp40) member C17 Neighboring gene chromosome 15 open reading frame 62 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:41084513-41085712 Neighboring gene Sharpr-MPRA regulatory region 2594 Neighboring gene NANOG hESC enhancer GRCh37_chr15:41091921-41092462 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9263 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9264 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9265 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9266 Neighboring gene zinc finger FYVE-type containing 19 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:41117412-41117912 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:41117913-41118413 Neighboring gene Sharpr-MPRA regulatory region 7770 Neighboring gene SPINT1 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:41135684-41135866 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:41135819-41136390 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6344 Neighboring gene serine peptidase inhibitor, Kunitz type 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9267 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9268 Neighboring gene uncharacterized LOC124903475 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6345 Neighboring gene ras homolog family member V

    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 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. PPP1R14D promotes the proliferation, migration and invasion of lung adenocarcinoma via the PKCα/BRAF/MEK/ERK signaling pathway. Cao H, et al. Int J Oncol, 2022 Dec. PMID 36263632, Free PMC Article
    2. GBPI, a novel gastrointestinal- and brain-specific PP1-inhibitory protein, is activated by PKC and inactivated by PKA. Liu QR, et al. Biochem J, 2004 Jan 1. PMID 12974676, Free PMC Article
    3. Regulator-driven functional diversification of protein phosphatase-1 in eukaryotic evolution. Ceulemans H, et al. Bioessays, 2002 Apr. PMID 11948623
    4. Global analysis of host-pathogen interactions that regulate early-stage HIV-1 replication. König R, et al. Cell, 2008 Oct 3. PMID 18854154, Free PMC Article
    5. Systematic Analysis of Human Protein Phosphatase Interactions and Dynamics. Yadav L, et al. Cell Syst, 2017 Apr 26. PMID 28330616

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PPP1R14D promotes the proliferation, migration and invasion of lung adenocarcinoma via the PKCalpha/BRAF/MEK/ERK signaling pathway.
      Title: PPP1R14D promotes the proliferation, migration and invasion of lung adenocarcinoma via the PKCα/BRAF/MEK/ERK signaling pathway.
    2. A gastrointestinal- and brain-specific PP1 inhibitory protein (GBPI-1)is activated by PKC phosphorylation. A longer GBPI-2 splice variant mRNA is found in testes.
      Title: GBPI, a novel gastrointestinal- and brain-specific PP1-inhibitory protein, is activated by PKC and inactivated by PKA.
    Submit: New GeneRIF Correction

    Phenotypes

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    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)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of protein phosphatase 1, regulatory subunit 14D (PPP1R14D) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    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

    • FLJ20251, MGC119014, MGC119016

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein serine/threonine phosphatase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein serine/threonine phosphatase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of phosphorylation IEA
    Inferred from Electronic Annotation
    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
    protein phosphatase 1 regulatory subunit 14D
    Names
    PKC-dependent PP1 inhibitory protein
    gastrointestinal and brain-specific PP1-inhibitory protein 1
    gut and brain phosphatase inhibitor 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_001130143.2 → NP_001123615.1  protein phosphatase 1 regulatory subunit 14D isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents the longer transcript and encodes the longer isoform (2).
      Source sequence(s)
      AI963626, BC098150
      Consensus CDS
      CCDS45230.1
      UniProtKB/TrEMBL
      E9PAT1
      Related
      ENSP00000398342.2, ENST00000427255.2
      Conserved Domains (2) summary
      pfam05361
      Location:27 → 84
      PP1_inhibitor; PKC-activated protein phosphatase-1 inhibitor
      pfam13900
      Location:101 → 123
      GVQW; Putative domain of unknown function

    2. NM_017726.8 → NP_060196.1  protein phosphatase 1 regulatory subunit 14D isoform 1

      See identical proteins and their annotated locations for NP_060196.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) lacks an exon in the coding region, compared to variant 2, resulting in a frameshift and a protein (isoform 1) with a truncated C-terminus, compared to isoform 2.
      Source sequence(s)
      AI963626, AY050671
      Consensus CDS
      CCDS10066.1
      UniProtKB/Swiss-Prot
      Q4V773, Q9NXH3
      Related
      ENSP00000299174.6, ENST00000299174.10
      Conserved Domains (1) summary
      pfam05361
      Location:27 → 139
      PP1_inhibitor; PKC-activated protein phosphatase-1 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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      40815451..40828708 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      38621477..38634737 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NXH3.1 GenPept UniProtKB/Swiss-Prot:Q9NXH3

    Gene LinkOut

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

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