Human Gene PPP1R14A (uc010efv.3) Description and Page Index
  Description: Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 14A (PPP1R14A), transcript variant 2, mRNA.
RefSeq Summary (NM_001243947): 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].
Transcript (Including UTRs)
   Position: hg19 chr19:38,741,877-38,747,231 Size: 5,355 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg19 chr19:38,741,958-38,746,979 Size: 5,022 Coding Exon Count: 3 

Page IndexSequence and LinksMalaCardsCTDGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA DescriptionsPathways
Other NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:38,741,877-38,747,231)mRNA (may differ from genome)Protein (120 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCLynxMGIOMIMPubMed
ReactomeStanford SOURCETreefamUniProtKBWikipedia

-  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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  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 -126.40252-0.502 Picture PostScript Text
3' UTR -9.5081-0.117 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
  Pfam Domains:
PF05361 - PKC-activated protein phosphatase-1 inhibitor

SCOP Domains:
81790 - Myosin phosphatase inhibitor 17kDa protein, CPI-17

ModBase Predicted Comparative 3D Structure on Q96A00-2
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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
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  LF207589 - JP 2014500723-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.
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.
LF367294 - JP 2014500723-A/174797: Polycomb-Associated Non-Coding RNAs.
JD478007 - Sequence 459031 from Patent EP1572962.
JD460743 - Sequence 441767 from Patent EP1572962.
MA602876 - JP 2018138019-A/174802: Polycomb-Associated Non-Coding RNAs.
MA602871 - JP 2018138019-A/174797: Polycomb-Associated Non-Coding RNAs.
MA443166 - JP 2018138019-A/15092: Polycomb-Associated Non-Coding RNAs.

-  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, NM_001243947, NP_001230876, PPP1INL, Q96A00-2
UCSC ID: uc010efv.3
RefSeq Accession: NM_001243947
Protein: Q96A00-2, splice isoform of Q96A00 CCDS: CCDS58660.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001243947.1
exon count: 3CDS single in 3' UTR: no RNA size: 701
ORF size: 363CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 782.00frame shift in genome: no % Coverage: 99.29
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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