Aliases for PPP1R14A Gene
Aliases for PPP1R14A Gene
External Ids for PPP1R14A Gene
- HGNC: 14871
- Entrez Gene: 94274
- Ensembl: ENSG00000167641
- OMIM: 608153
- UniProtKB: Q96A00
Previous HGNC Symbols for PPP1R14A Gene
- PPP1INL
Previous GeneCards Identifiers for PPP1R14A Gene
- GC19M039356
- GC19M039133
- GC19M043417
- GC19M043433
- GC19M038741
- GC19M035189
Summaries for PPP1R14A Gene
-
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]
GeneCards Summary for PPP1R14A Gene
PPP1R14A (Protein Phosphatase 1 Regulatory Inhibitor Subunit 14A) is a Protein Coding gene. Diseases associated with PPP1R14A include Dracunculiasis and Cutaneous Anthrax. Among its related pathways are Activation of cAMP-Dependent PKA and Signaling by Rho GTPases. Gene Ontology (GO) annotations related to this gene include protein phosphatase inhibitor activity. An important paralog of this gene is PPP1R14C.
UniProtKB/Swiss-Prot for PPP1R14A Gene
-
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.
Additional gene information for PPP1R14A Gene
- Monarch Initiative
- Search for PPP1R14A at DataMed
- Search for PPP1R14A at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPP1R14A Gene
Genomics for PPP1R14A Gene
GeneHancer (GH) Regulatory Elements for PPP1R14A Gene
Promoters and enhancers for PPP1R14A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around PPP1R14A on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the PPP1R14A gene promoter:
-
- c-Jun
- ATF-2
- deltaCREB
- CREB
- c-Fos
- AP-1
- Max1
Regulatory Element Products
Genomic Locations for PPP1R14A Gene
Genomic Locations for PPP1R14A Gene
- chr19:38,251,237-38,256,591
- (GRCh38/hg38)
- Size:
- 5,355 bases
- Orientation:
- Minus strand
- chr19:38,741,877-38,747,231
- (GRCh37/hg19)
- Size:
- 5,355 bases
- Orientation:
- Minus strand
Genomic View for PPP1R14A Gene
Genes around PPP1R14A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19q13.2 by Entrez Gene
- 19q13.1 by HGNC
- 19q13.2 by Ensembl
PPP1R14A Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PPP1R14A Gene
Proteins for PPP1R14A Gene
-
Protein details for PPP1R14A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q96A00-PP14A_HUMAN
- Recommended name:
- Protein phosphatase 1 regulatory subunit 14A
- Protein Accession:
- Q96A00
- Q7Z4X7
- Q96S54
Protein attributes for PPP1R14A Gene
- Size:
- 147 amino acids
- Molecular mass:
- 16693 Da
- Quaternary structure:
- No Data Available
Protein Expression for PPP1R14A Gene
Post-translational modifications for PPP1R14A Gene
Other Protein References for PPP1R14A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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-
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-
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-
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Assay Products
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-
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No data available for DME Specific Peptides for PPP1R14A Gene
Domains & Families for PPP1R14A Gene
Gene Families for PPP1R14A Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Plasma proteins
- Predicted intracellular proteins
Suggested Antigen Peptide Sequences for PPP1R14A Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q96A00- Family:
-
- Belongs to the PP1 inhibitor family.
Function for PPP1R14A Gene
Molecular function for PPP1R14A Gene
- UniProtKB/Swiss-Prot 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.
Phenotypes From GWAS Catalog for PPP1R14A Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004864 | protein phosphatase inhibitor activity | IEA | -- |
| GO:0004865 | protein serine/threonine phosphatase inhibitor activity | IBA | -- |
Phenotypes for PPP1R14A Gene
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-
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miRNA for PPP1R14A Gene
- miRTarBase miRNAs that target PPP1R14A
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- Mammalian expression: PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PPP1R14A
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Horizon Cell Lines for PPP1R14A
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PPP1R14A Gene
Localization for PPP1R14A Gene
Subcellular locations from UniProtKB/Swiss-Prot for PPP1R14A Gene
- Cytoplasm.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| nucleus | 4 |
| mitochondrion | 3 |
| cytoskeleton | 2 |
| plasma membrane | 1 |
| endoplasmic reticulum | 1 |
- Nucleoplasm (3)
- Nuclear bodies (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
Pathways & Interactions for PPP1R14A Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Activation of cAMP-Dependent PKA |
.77
|
.56
|
| 2 | Beta-Adrenergic Signaling |
.36
|
|
| 3 | Signaling by Rho GTPases | ||
| 4 | Vascular smooth muscle contraction | ||
| 5 | CREB Pathway | ||
Pathways by source for PPP1R14A Gene
4 Reactome pathways for PPP1R14A Gene
1 KEGG pathway for PPP1R14A Gene
1 GeneGo (Thomson Reuters) pathway for PPP1R14A Gene
16 Qiagen pathways for PPP1R14A Gene
Interacting Proteins for PPP1R14A Gene
Selected Interacting proteins:
ENSP00000301242
Q96A00-PP14A_HUMAN
for PPP1R14A Gene via
STRING
IID
MINT
GPS-Prot Interaction Network for PPP1R14A
SIGNOR curated interactions for PPP1R14A Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0032515 | negative regulation of phosphoprotein phosphatase activity | IEA | -- |
| GO:0035304 | regulation of protein dephosphorylation | IBA | -- |
| GO:0035690 | cellular response to drug | IEA | -- |
| GO:0042325 | regulation of phosphorylation | IEA | -- |
Transcripts for PPP1R14A Gene
mRNA/cDNA for PPP1R14A Gene
- (2) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (118) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000587515 607 bps (uc060xzh.1)
- ENST00000591291 433 bps (uc060xzi.1)
- ENST00000347262 637 bps (uc010efv.4)
- ENST00000301242 777 bps (uc002ohq.3)
- ENST00000591585 949 bps (uc060xzj.1)
Unigene Clusters for PPP1R14A Gene
- Protein phosphatase 1, regulatory (inhibitor) subunit 14A:
- Representative Sequences:
CRISPR Products
-
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Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PPP1R14A
- GenScript: Design CRISPR guide RNA sequences for PPP1R14A
miRNA Products
Inhibitory RNA Products
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Clone Products
- Sino Biological Human cDNA Clone for PPP1R14A
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- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PPP1R14A
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PPP1R14A
- genomics-online: cdna clones - Search results for available PPP1R14A gene related products
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- Applied Biological Materials Clones for PPP1R14A
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for PPP1R14A Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
- Testicular Interstitial Cells Testis Interstitium
-
Ovary (Reproductive System)
- Ovarian Somatic Cells Ovigerous Cord
- Granulosa Cells Primary Follicle
- Brain (Nervous System)
-
Heart (Cardiovascular System)
- Atrioventricular Canal Cells Atrioventricular Canal
- Blood (Hematopoietic System)
- Lateral Plate Mesoderm (Gastrulation Derivatives)
- Neural Crest (Gastrulation Derivatives)
- Adipose (Muscoskeletal System)
- Bone (Muscoskeletal System)
- Cartilage (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for PPP1R14A Gene
This gene is overexpressed in Artery - Aorta (x6.7), Artery - Coronary (x5.9), and Artery - Tibial (x5.4).
This gene is overexpressed in Peripheral blood mononuclear cells (12.3), Urinary Bladder (10.1), and Rectum (6.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PPP1R14A Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of PPP1R14A Gene:
PPP1R14ASOURCE GeneReport for Unigene cluster for PPP1R14A Gene:
Hs.631569mRNA Expression by UniProt/SwissProt for PPP1R14A Gene:
Q96A00-PP14A_HUMAN
Tissue specificity:
Isoform 1 is detected in aorta and testis. Isoform 2 is detected in aorta.
Evidence on tissue expression from TISSUES for PPP1R14A Gene
- Muscle(4.5)
- Blood(4.4)
- Liver(4.3)
- Pancreas(4.1)
- Nervous system(2.7)
- Intestine(2.5)
- Lung(2.4)
- Heart(2.2)
Primer Products
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OriGene qPCR primer pairs and template standards for PPP1R14A
-
OriGene qPCR primer pairs for PPP1R14A
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Gene Expression Assay Products
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PPP1R14A Gene
Orthologs for PPP1R14A Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| cow (Bos Taurus) |
Mammalia | PPP1R14A 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | PPP1R14A 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Ppp1r14a 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Ppp1r14a 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | PPP1R14A 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | PPP1R14A 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ppp1r14a 33 |
|
||
| Str.5879 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.4651 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | ppp1r14aa 34 |
|
OneToMany | |
| Dr.14203 33 |
|
- Species where no ortholog for PPP1R14A was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- chicken (Gallus gallus)
- chimpanzee (Pan troglodytes)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Evolution for PPP1R14A Gene
- ENSEMBL:
- Gene Tree for PPP1R14A (if available)
- TreeFam:
- Gene Tree for PPP1R14A (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for PPP1R14A: view image
Paralogs for PPP1R14A Gene
Variants for PPP1R14A Gene
| SNP ID | Clin | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000000675 | -- | 38,256,784(-) | T/A | upstream_transcript_variant | |
| rs1000664625 | -- | 38,255,689(-) | G/A | intron_variant | |
| rs1001005134 | -- | 38,255,434(-) | T/A | intron_variant | |
| rs1001126044 | -- | 38,251,099(-) | G/A | downstream_transcript_variant | |
| rs1001187576 | -- | 38,256,238(-) | G/C | coding_sequence_variant, missense_variant |
Residual Variation Intolerance Score:
68.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.28;
25.59% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PPP1R14A Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- PPP1R14A
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPP1R14A Gene
Disorders for PPP1R14A Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| dracunculiasis |
|
|
| cutaneous anthrax |
|
|
Search PPP1R14A in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for PPP1R14A
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for PPP1R14A Gene
Publications for PPP1R14A Gene
- Identification of human CPI-17, an inhibitory phosphoprotein for myosin phosphatase. (PMID: 11467857) Yamawaki K … Nakano T (Biochemical and biophysical research communications 2001) 2 3 4 22 58
- Association of CPI-17 with protein kinase C and casein kinase I. (PMID: 15003508) Zemlickova E … Dubois T (Biochemical and biophysical research communications 2004) 3 4 22 58
- Functional inactivation of NF2/merlin in human mesothelioma. (PMID: 18835652) Thurneysen C … Felley-Bosco E (Lung cancer (Amsterdam, Netherlands) 2009) 3 22 58
- CPI-17 silencing-reduced responsiveness in control and TNF-alpha-treated human bronchi. (PMID: 18757304) Morin C … Rousseau E (American journal of respiratory cell and molecular biology 2008) 3 22 58
- Up-regulation of myometrial RHO effector proteins (PKN1 and DIAPH1) and CPI-17 (PPP1R14A) phosphorylation in human pregnancy is associated with increased GTP-RHOA in spontaneous preterm labor. (PMID: 17301291) Lartey J … López Bernal A (Biology of reproduction 2007) 3 22 58
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- Mammalian expression: PiggyBac
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- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 50 available PPP1R14A Antibodies ranked by validation data
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Sources for PPP1R14A Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
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