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    PPP1R14A protein phosphatase 1 regulatory inhibitor subunit 14A [ Homo sapiens (human) ]

    Gene ID: 94274, updated on 27-Dec-2024

    Summary

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    Official Symbol
    PPP1R14Aprovided by HGNC
    Official Full Name
    protein phosphatase 1 regulatory inhibitor subunit 14Aprovided by HGNC
    Primary source
    HGNC:HGNC:14871
    See related
    Ensembl:ENSG00000167641 MIM:608153; AllianceGenome:HGNC:14871
    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
    CPI17; CPI-17; PPP1INL
    Summary
    The protein encoded by this gene belongs to the protein phosphatase 1 (PP1) inhibitor family. This protein is an inhibitor of smooth muscle myosin phosphatase, and has higher inhibitory activity when phosphorylated. Inhibition of myosin phosphatase leads to increased myosin phosphorylation and enhanced smooth muscle contraction. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Sep 2011]
    Expression
    Broad expression in fat (RPKM 20.4), spleen (RPKM 15.6) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PPP1R14A in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (38251237..38256374, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (41053408..41058545, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (38741877..38747014, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene signal induced proliferation associated 1 like 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:38693513-38694196 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:38700253-38701236 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:38707788-38708987 Neighboring gene RNA, 7SL, cytoplasmic 663, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:38709595-38710094 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10563 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:38718119-38718889 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10564 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14569 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:38729145-38729644 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:38734884-38735760 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:38746806-38746993 Neighboring gene double PHD fingers 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:38751829-38752766 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:38752767-38753703 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:38753844-38754761 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10565 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:38785153-38785654 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:38788840-38789473 Neighboring gene serine peptidase inhibitor, Kunitz type 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:38791160-38791852 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:38792217-38792464 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:38794013-38794750 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:38794751-38795488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:38795489-38796226 Neighboring gene chromosome 19 open reading frame 33 Neighboring gene Yip1 interacting factor homolog B, membrane trafficking protein

    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. PPP1R14A is Associated with Immunotherapy Resistance in Head and Neck Squamous Cell Carcinoma Identified by Single-Cell and Bulk RNA-Sequencing. Ma JJ, et al. Chin Med Sci J, 2024 Jun 30. PMID 38887993
    2. Novel role of prostate cancer risk variant rs7247241 on PPP1R14A isoform transition through allelic TF binding and CpG methylation. Tian Y, et al. Hum Mol Genet, 2022 May 19. PMID 34849858, Free PMC Article
    3. CPI-17 silencing-reduced responsiveness in control and TNF-alpha-treated human bronchi. Morin C, et al. Am J Respir Cell Mol Biol, 2008 Dec. PMID 18757304
    4. CPI-17 Overexpression and Its Correlation With the NF2 Mutation Spectrum in Sporadic Vestibular Schwannomas. Xu J, et al. Otol Neurotol, 2020 Jan. PMID 31789805
    5. Relationship between uterine smooth muscular CPI-17-signal pathway-mediated Ca(2+) sensitivity changes and uterine atony-induced postpartum haemorrhage. Liao Q, et al. J Obstet Gynaecol, 2019 Apr. PMID 30428734

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PPP1R14A is Associated with Immunotherapy Resistance in Head and Neck Squamous Cell Carcinoma Identified by Single-Cell and Bulk RNA-Sequencing.
      Title: PPP1R14A is Associated with Immunotherapy Resistance in Head and Neck Squamous Cell Carcinoma Identified by Single-Cell and Bulk RNA-Sequencing.
    2. Phosphorylated CPI-17 and MLC2 as Biomarkers of Coronary Artery Spasm-Induced Sudden Cardiac Death.
      Title: Phosphorylated CPI-17 and MLC2 as Biomarkers of Coronary Artery Spasm-Induced Sudden Cardiac Death.
    3. Novel role of prostate cancer risk variant rs7247241 on PPP1R14A isoform transition through allelic TF binding and CpG methylation.
      Title: Novel role of prostate cancer risk variant rs7247241 on PPP1R14A isoform transition through allelic TF binding and CpG methylation.
    4. CPI-17 Overexpression and Its Correlation With the NF2 Mutation Spectrum in Sporadic Vestibular Schwannomas.
      Title: CPI-17 Overexpression and Its Correlation With the NF2 Mutation Spectrum in Sporadic Vestibular Schwannomas.
    5. The down-regulated expression of CPI-17 phosphorylated proteins might be one of the important factors of uterine atony-induced postpartum hemorrhage.
      Title: Relationship between uterine smooth muscular CPI-17-signal pathway-mediated Ca(2+) sensitivity changes and uterine atony-induced postpartum haemorrhage.
    6. CPI-17 drives Ras activity and tumorigenesis in melanomas in a two-fold way; inactivation of the tumor suppressor merlin and activation of the growth promoting ERM family.
      Title: CPI-17 drives oncogenic Ras signaling in human melanomas via Ezrin-Radixin-Moesin family proteins.
    7. The authors call the mutual sequestration mechanism through which pCPI-17 and myosin light-chain phosphatase interact inhibition by unfair competition: myosin light-chain phosphatase protects pCPI-17 from other phosphatases, while pCPI-17 blocks other substrates from the active site of myosin light-chain phosphatase.
      Title: Unfair competition governs the interaction of pCPI-17 with myosin phosphatase (PP1-MYPT1).
    8. Study finds that CPI-17 (PPP1R14A protein phosphatase 1 regulatory inhibitor subunit 14A, 17 kDa) is not expressed in the healthy peripheral nervous system or in nontumour pathologies of the peripheral nervous system. CPI-17 up-regulation, however, is observed in over 90% of schwannomas, but not in neurofibroma and only rarely in malignant peripheral nerve sheath tumour.
      Title: The putative oncogene CPI-17 is up-regulated in schwannoma.
    9. CPI-17 has a role in restoring skin homoeostasis in cutaneous field of cancerization lesions
      Title: Role of CPI-17 in restoring skin homoeostasis in cutaneous field of cancerization: effects of topical application of a film-forming medical device containing photolyase and UV filters.
    10. analysis of the interaction between plakoglobin and CPI-17, which is affected by the phosphorylation status of CPI-17 in human lung microvascular endothelial cells
      Title: Putative protein partners for the human CPI-17 protein revealed by bacterial two-hybrid screening.
    Submit: New GeneRIF Correction See all GeneRIFs (23)

    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

    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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    Homology

    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
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    protein phosphatase 1 regulatory subunit 14A
    Names
    17 kDa PKC-potentiated inhibitory protein of PP1
    17-KDa protein
    PKC-potentiated inhibitory protein of PP1
    protein kinase C-potentiated inhibitor protein of 17 kDa

    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_001243947.2 → NP_001230876.1  protein phosphatase 1 regulatory subunit 14A isoform 2

      See identical proteins and their annotated locations for NP_001230876.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame coding exon compared to variant 1. This results in a shorter isoform (2, also known as CPI-17beta) missing an internal protein segment compared to isoform 1.
      Source sequence(s)
      AB056509
      Consensus CDS
      CCDS58660.1
      UniProtKB/Swiss-Prot
      Q96A00
      Related
      ENSP00000301243.3, ENST00000347262.8
      Conserved Domains (1) summary
      pfam05361
      Location:1 → 104
      PP1_inhibitor; PKC-activated protein phosphatase-1 inhibitor

    2. NM_033256.3 → NP_150281.1  protein phosphatase 1 regulatory subunit 14A isoform 1

      See identical proteins and their annotated locations for NP_150281.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript, and encodes the longer isoform (1, also known as CPI-17alpha).
      Source sequence(s)
      AB056508
      Consensus CDS
      CCDS12509.1
      UniProtKB/Swiss-Prot
      Q7Z4X7, Q96A00, Q96S54
      Related
      ENSP00000301242.3, ENST00000301242.9
      Conserved Domains (1) summary
      pfam05361
      Location:1 → 135
      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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      38251237..38256374 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      41053408..41058545 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96A00.1 GenPept UniProtKB/Swiss-Prot:Q96A00

    Gene LinkOut

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