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

Gene ID: 94274, updated on 23-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (38251237..38256374, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (41053408..41058545, complement)
105.20220307 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: 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. 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
  2. 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
  3. 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
  4. The putative oncogene CPI-17 is up-regulated in schwannoma. Hagel C, et al. Neuropathol Appl Neurobiol, 2016 Dec. PMID 27248983
  5. 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. Puig-Butillé JA, et al. Exp Dermatol, 2013 Jul. PMID 23800065, Free PMC Article

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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).
  7. 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.
  8. 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.
  9. 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.
  10. The N-terminal 21-residue tail domain of CPI-17 is necessary for nuclear localization. Phospho-mimetic Asp-substitution of CPI-17 at Ser12 attenuates the nuclear import.
    Title: Nuclear localization of CPI-17, a protein phosphatase-1 inhibitor protein, affects histone H3 phosphorylation and corresponds to proliferation of cancer and smooth muscle cells.
Submit: New GeneRIF Correction See all GeneRIFs (22)

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)

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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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
  
Process Evidence Code Pubs
involved_in regulation of phosphorylation IEA
Inferred from Electronic Annotation
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_2023_10

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

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