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

Summary

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

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_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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).
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.
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.
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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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See Variation Viewer (GRCh37.p13)

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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)

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
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