Human Gene PPP1R14A (ENST00000301242.9) from GENCODE V44
  Description: Homo sapiens protein phosphatase 1 regulatory inhibitor subunit 14A (PPP1R14A), transcript variant 1, mRNA. (from RefSeq NM_033256)
RefSeq Summary (NM_033256): 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].
Gencode Transcript: ENST00000301242.9
Gencode Gene: ENSG00000167641.11
Transcript (Including UTRs)
   Position: hg38 chr19:38,251,237-38,256,374 Size: 5,138 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg38 chr19:38,251,318-38,256,339 Size: 5,022 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:38,251,237-38,256,374)mRNA (may differ from genome)Protein (147 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PP14A_HUMAN
DESCRIPTION: RecName: Full=Protein phosphatase 1 regulatory subunit 14A; AltName: Full=17 kDa PKC-potentiated inhibitory protein of PP1; AltName: Full=Protein kinase C-potentiated inhibitor protein of 17 kDa; Short=CPI-17;
FUNCTION: Inhibitor of PPP1CA. Has over 1000-fold higher inhibitory activity when phosphorylated, creating a molecular switch for regulating the phosphorylation status of PPP1CA substrates and smooth muscle contraction.
SUBCELLULAR LOCATION: Cytoplasm (By similarity).
TISSUE SPECIFICITY: Isoform 1 is detected in aorta and testis. Isoform 2 is detected in aorta.
SIMILARITY: Belongs to the PP1 inhibitor family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PPP1R14A
Diseases sorted by gene-association score: dracunculiasis (2), cutaneous anthrax (2), charcot-marie-tooth disease, type 1c (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 282.01 RPKM in Artery - Aorta
Total median expression: 2254.89 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -13.4035-0.383 Picture PostScript Text
3' UTR -9.1081-0.112 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008025 - PP1_inhibitor

Pfam Domains:
PF05361 - PKC-activated protein phosphatase-1 inhibitor

ModBase Predicted Comparative 3D Structure on Q96A00
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004864 protein phosphatase inhibitor activity

Biological Process:
GO:0032515 negative regulation of phosphoprotein phosphatase activity
GO:0035690 cellular response to drug
GO:0042325 regulation of phosphorylation

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  LF207589 - JP 2014500723-A/15092: Polycomb-Associated Non-Coding RNAs.
MA443166 - JP 2018138019-A/15092: Polycomb-Associated Non-Coding RNAs.
BC021089 - Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 14A, mRNA (cDNA clone MGC:31746 IMAGE:5019808), complete cds.
AF123763 - Homo sapiens PKC-potentiated inhibitory protein of PP1 mRNA, complete cds.
AY050670 - Homo sapiens PKC-potentiated PP1 inhibitory protein (PPP1R14A) mRNA, complete cds.
AB056508 - Homo sapiens CPI-17 mRNA for 17-kDa PKC-potentiated inhibitory protein of PP1, complete cds.
AB056509 - Homo sapiens CPI-17beta mRNA for a 17-kDa PKC-potentiated inhibitory protein of PP1, complete cds.
JD312810 - Sequence 293834 from Patent EP1572962.
JD389340 - Sequence 370364 from Patent EP1572962.
JD389339 - Sequence 370363 from Patent EP1572962.
JD413129 - Sequence 394153 from Patent EP1572962.
JD197935 - Sequence 178959 from Patent EP1572962.
LF367299 - JP 2014500723-A/174802: Polycomb-Associated Non-Coding RNAs.
MA602876 - JP 2018138019-A/174802: Polycomb-Associated Non-Coding RNAs.
CU676810 - Synthetic construct Homo sapiens gateway clone IMAGE:100021809 5' read PPP1R14A mRNA.
KJ895229 - Synthetic construct Homo sapiens clone ccsbBroadEn_04623 PPP1R14A gene, encodes complete protein.
DQ892130 - Synthetic construct clone IMAGE:100004760; FLH183292.01X; RZPDo839A08142D protein phosphatase 1, regulatory (inhibitor) subunit 14A (PPP1R14A) gene, encodes complete protein.
DQ895324 - Synthetic construct Homo sapiens clone IMAGE:100009784; FLH183288.01L; RZPDo839A08141D protein phosphatase 1, regulatory (inhibitor) subunit 14A (PPP1R14A) gene, encodes complete protein.
LF367296 - JP 2014500723-A/174799: Polycomb-Associated Non-Coding RNAs.
MA602873 - JP 2018138019-A/174799: Polycomb-Associated Non-Coding RNAs.
LF367294 - JP 2014500723-A/174797: Polycomb-Associated Non-Coding RNAs.
MA602871 - JP 2018138019-A/174797: Polycomb-Associated Non-Coding RNAs.
JD478007 - Sequence 459031 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04270 - Vascular smooth muscle contraction

Reactome (by CSHL, EBI, and GO)

Protein Q96A00 (Reactome details) participates in the following event(s):

R-HSA-5671763 p-T774-PKN1 phosphorylates PPP1R14A
R-HSA-5671772 p-T38-PPP1R14A binds MLCP
R-HSA-5625740 RHO GTPases activate PKNs
R-HSA-195258 RHO GTPase Effectors
R-HSA-194315 Signaling by Rho GTPases
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: CPI17, ENST00000301242.1, ENST00000301242.2, ENST00000301242.3, ENST00000301242.4, ENST00000301242.5, ENST00000301242.6, ENST00000301242.7, ENST00000301242.8, NM_033256, PP14A_HUMAN, PPP1INL, Q7Z4X7, Q96A00, Q96S54, uc002ohq.1, uc002ohq.2, uc002ohq.3, uc002ohq.4
UCSC ID: ENST00000301242.9
RefSeq Accession: NM_033256
Protein: Q96A00 (aka PP14A_HUMAN or P14A_HUMAN)
CCDS: CCDS12509.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.