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Aliases for PPP1R14A Gene

Aliases for PPP1R14A Gene

  • Protein Phosphatase 1 Regulatory Inhibitor Subunit 14A 2 3 5
  • Protein Kinase C-Potentiated Inhibitor Protein Of 17 KDa 3 4
  • 17 KDa PKC-Potentiated Inhibitory Protein Of PP1 3 4
  • PKC-Potentiated Inhibitory Protein Of PP1 2 3
  • 17-KDa Protein 2 3
  • PPP1INL 3 4
  • CPI-17 3 4
  • CPI17 3 4
  • Protein Phosphatase 1, Regulatory (Inhibitor) Subunit 14A 2
  • 17-KDa PKC-Potentiated Inhibitory Protein Of PP1 2
  • Protein Phosphatase 1 Regulatory Subunit 14A 3

External Ids for PPP1R14A Gene

Previous HGNC Symbols for PPP1R14A Gene

  • PPP1INL

Previous GeneCards Identifiers for PPP1R14A Gene

  • GC19M039356
  • GC19M039133
  • GC19M043417
  • GC19M043433
  • GC19M038741
  • GC19M035189

Summaries for PPP1R14A Gene

Entrez Gene Summary 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 Vascular smooth muscle contraction and Phospholipase-C Pathway. 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.

Gene Wiki entry for PPP1R14A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPP1R14A Gene

Genomics for PPP1R14A Gene

Regulatory Elements for PPP1R14A Gene

Enhancers for PPP1R14A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G038249 1.5 Ensembl ENCODE dbSUPER 23.6 +4.4 4368 5.1 FOXA2 MLX AGO1 ZNF48 YY1 ZNF121 GLIS2 ZNF548 ZNF263 REST PPP1R14A ZNF793 CATSPERG SPINT2 ZNF607 C19orf33
GH19G038262 1.4 ENCODE dbSUPER 21.8 -9.3 -9275 6.7 HDGF FOXA2 PKNOX1 MLX AGO1 ZFP64 SIN3A ARID4B DMAP1 ZNF2 ZNF573 ZNF607 ZNF793 ZNF569 C19orf33 ZNF570 CATSPERG LOC100631378 PPP1R14A LOC284412
GH19G038255 1.2 ENCODE dbSUPER 23.4 +0.4 449 2.2 HDGF ATF1 CREB3L1 ARNT SIN3A ZNF2 TCF12 ZNF121 GLIS2 KLF13 PPP1R14A CATSPERG ZNF571 SPINT2 C19orf33
GH19G038312 2 FANTOM5 Ensembl ENCODE dbSUPER 11.5 -61.0 -61030 9.9 CREB3L1 DMAP1 YY1 ZNF143 SP3 NFYC MEF2D ZNF610 GLIS1 NBN C19orf33 CATSPERG SPINT2 ZNF607 ENSG00000269688 ZNF571-AS1 ZNF793-AS1 ZNF793 ZNF781 LOC100631378
GH19G038244 0.8 dbSUPER 23.2 +11.6 11588 0.6 HDAC1 KLF1 AGO1 KLF17 BCL11B GLIS2 ZFHX2 POLR2A ZBTB48 PATZ1 PPP1R14A ZNF571 ZNF573 SPINT2 ENSG00000267682
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PPP1R14A on UCSC Golden Path with GeneCards custom track

Promoters for PPP1R14A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000109256 291 1001 HDGF ATF1 SIN3A KLF13 NCOA1 REST ZNF592 GLIS1 NBN CTCF

Genomic Location for PPP1R14A Gene

Chromosome:
19
Start:
38,251,237 bp from pter
End:
38,256,591 bp from pter
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:
PPP1R14A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPP1R14A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • Q7Z4X7
    • Q96S54

    Protein attributes for PPP1R14A Gene

    Size:
    147 amino acids
    Molecular mass:
    16693 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PPP1R14A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPP1R14A Gene

Post-translational modifications for PPP1R14A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PPP1R14A Gene

No data available for DME Specific Peptides for PPP1R14A Gene

Domains & Families for PPP1R14A Gene

Gene Families for PPP1R14A Gene

Protein Domains for PPP1R14A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PPP1R14A Gene

Graphical View of Domain Structure for InterPro Entry

Q96A00

UniProtKB/Swiss-Prot:

PP14A_HUMAN :
  • Belongs to the PP1 inhibitor family.
Family:
  • Belongs to the PP1 inhibitor family.
genes like me logo Genes that share domains with PPP1R14A: view

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.

Gene Ontology (GO) - Molecular Function for PPP1R14A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004864 protein phosphatase inhibitor activity IEA --
genes like me logo Genes that share ontologies with PPP1R14A: view
genes like me logo Genes that share phenotypes with PPP1R14A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PPP1R14A gene
Compartment Confidence
cytosol 5
nucleus 4
mitochondrion 3
cytoskeleton 2
plasma membrane 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for PPP1R14A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PPP1R14A: view

Pathways & Interactions for PPP1R14A Gene

genes like me logo Genes that share pathways with PPP1R14A: view

SIGNOR curated interactions for PPP1R14A Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for PPP1R14A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035690 cellular response to drug IEA --
GO:0042325 regulation of phosphorylation IEA --
GO:0043086 negative regulation of catalytic activity IEA --
genes like me logo Genes that share ontologies with PPP1R14A: view

Drugs & Compounds for PPP1R14A Gene

(7) Drugs for PPP1R14A Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for PPP1R14A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PPP1R14A: view

Transcripts for PPP1R14A Gene

Unigene Clusters for PPP1R14A Gene

Protein phosphatase 1, regulatory (inhibitor) subunit 14A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PPP1R14A Gene

No ASD Table

Relevant External Links for PPP1R14A Gene

GeneLoc Exon Structure for
PPP1R14A
ECgene alternative splicing isoforms for
PPP1R14A

Expression for PPP1R14A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PPP1R14A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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).

Protein differential expression in normal tissues from HIPED for PPP1R14A Gene

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, PaxDb, MaxQB, and MOPED for PPP1R14A Gene



Protein tissue co-expression partners for PPP1R14A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PPP1R14A Gene:

PPP1R14A

SOURCE GeneReport for Unigene cluster for PPP1R14A Gene:

Hs.631569

mRNA 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)
genes like me logo Genes that share expression patterns with PPP1R14A: view

Primer 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.

Orthologs for PPP1R14A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PPP1R14A 34 35
  • 90.93 (n)
dog
(Canis familiaris)
Mammalia PPP1R14A 34 35
  • 84.85 (n)
mouse
(Mus musculus)
Mammalia Ppp1r14a 34 16 35
  • 84.81 (n)
rat
(Rattus norvegicus)
Mammalia Ppp1r14a 34
  • 83.67 (n)
oppossum
(Monodelphis domestica)
Mammalia PPP1R14A 35
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PPP1R14A 35
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppp1r14a 34
  • 64.06 (n)
Str.5879 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.4651 34
zebrafish
(Danio rerio)
Actinopterygii ppp1r14aa 35
  • 42 (a)
OneToMany
Dr.14203 34
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)

Paralogs for PPP1R14A Gene

Paralogs for PPP1R14A Gene

(4) SIMAP similar genes for PPP1R14A Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with PPP1R14A: view

Variants for PPP1R14A Gene

Sequence variations from dbSNP and Humsavar for PPP1R14A Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1000000675 -- 38,256,784(+) ATTTG(A/T)TTGTT upstream-variant-2KB
rs1000664625 -- 38,255,689(+) TGTCC(A/G)TGAGT intron-variant
rs1001005134 -- 38,255,434(+) TTATG(A/T)CTTTG intron-variant
rs1001126044 -- 38,251,099(+) GGAGT(A/G)ATTCT downstream-variant-500B
rs1001187576 -- 38,256,238(+) CGCGC(C/G)TGCCG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for PPP1R14A Gene

Variant ID Type Subtype PubMed ID
nsv476367 CNV novel sequence insertion 20440878
nsv833821 CNV loss 17160897

Variation tolerance for PPP1R14A Gene

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)

Relevant External Links for PPP1R14A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPP1R14A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPP1R14A Gene

Disorders for PPP1R14A Gene

MalaCards: The human disease database

(3) MalaCards diseases for PPP1R14A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
dracunculiasis
  • dracontiasis
cutaneous anthrax
  • anthrax, skin type
loiasis
  • african eye worm
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PPP1R14A

Human Genome Epidemiology (HuGE) Navigator
PPP1R14A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PPP1R14A
genes like me logo Genes that share disorders with PPP1R14A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PPP1R14A Gene

Publications for PPP1R14A Gene

  1. Identification of human CPI-17, an inhibitory phosphoprotein for myosin phosphatase. (PMID: 11467857) Yamawaki K. … Nakano T. (Biochem. Biophys. Res. Commun. 2001) 2 3 4 22 64
  2. Association of CPI-17 with protein kinase C and casein kinase I. (PMID: 15003508) Zemlickova E. … Dubois T. (Biochem. Biophys. Res. Commun. 2004) 3 4 22 64
  3. Functional inactivation of NF2/merlin in human mesothelioma. (PMID: 18835652) Thurneysen C. … Felley-Bosco E. (Lung Cancer 2009) 3 22 64
  4. CPI-17 silencing-reduced responsiveness in control and TNF-alpha-treated human bronchi. (PMID: 18757304) Morin C. … Rousseau E. (Am. J. Respir. Cell Mol. Biol. 2008) 3 22 64
  5. Epoxyeicosatrienoic acid relaxing effects involve Ca2+-activated K+ channel activation and CPI-17 dephosphorylation in human bronchi. (PMID: 17237191) Morin C. … Rousseau E. (Am. J. Respir. Cell Mol. Biol. 2007) 3 22 64

Products for PPP1R14A Gene

Sources for PPP1R14A Gene

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