Aliases for PPP1R1A Gene

Aliases for PPP1R1A Gene

  • Protein Phosphatase 1 Regulatory Inhibitor Subunit 1A 2 3 5
  • Protein Phosphatase 1 Regulatory Subunit 1A 3 4
  • IPP-1 3 4
  • IPP1 3 4
  • I-1 3 4
  • Protein Phosphatase 1, Regulatory (Inhibitor) Subunit 1A 2
  • Protein Phosphatase Inhibitor-1 3
  • Protein Phosphatase Inhibitor 1 4
  • Inhibitor-1 3
  • PPP1R1A 5
  • I1 3

External Ids for PPP1R1A Gene

Previous GeneCards Identifiers for PPP1R1A Gene

  • GC12M055099
  • GC12M054689
  • GC12M053259
  • GC12M053255
  • GC12M054971
  • GC12M052011

Summaries for PPP1R1A Gene

GeneCards Summary for PPP1R1A Gene

PPP1R1A (Protein Phosphatase 1 Regulatory Inhibitor Subunit 1A) is a Protein Coding gene. Diseases associated with PPP1R1A include Rosette-Forming Glioneuronal Tumor. Among its related pathways are Activation of cAMP-Dependent PKA and Beta-Adrenergic Signaling. Gene Ontology (GO) annotations related to this gene include protein phosphatase inhibitor activity and protein serine/threonine phosphatase inhibitor activity. An important paralog of this gene is PPP1R1B.

UniProtKB/Swiss-Prot Summary for PPP1R1A Gene

  • Inhibitor of protein-phosphatase 1. This protein may be important in hormonal control of glycogen metabolism. Hormones that elevate intracellular cAMP increase I-1 activity in many tissues. I-1 activation may impose cAMP control over proteins that are not directly phosphorylated by PKA. Following a rise in intracellular calcium, I-1 is inactivated by calcineurin (or PP2B). Does not inhibit type-2 phosphatases.

Additional gene information for PPP1R1A Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PPP1R1A Gene

Genomics for PPP1R1A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PPP1R1A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J054586 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.7 667 2 GATAD2A PRDM10 REST KDM1A ZNF692 POLR2A PATZ1 SP1 EZH2 CEBPA PPP1R1A GTSF1 piR-43106-044 PDE1B
GH12J054590 Promoter/Enhancer 0.8 EPDnew ENCODE 600.7 -2.6 -2574 1.2 SALL2 ZFHX2 MAFK EGR2 EZH2 PPP1R1A CBX5 lnc-PPP1R1A-3 LACRT
GH12J054559 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 11.3 +27.6 27558 3 SP1 CREB1 ZNF512 JUND PKNOX1 POLR2A SMAD5 ZNF24 IRF3 NRF1 PDE1B PPP1R1A piR-43106-044
GH12J054549 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 10.9 +39.0 38958 1.4 PRDM10 ZNF692 POLR2A FOXA1 ZIC2 ZNF776 ZSCAN4 PATZ1 SMAD5 REST PDE1B ENSG00000258344 ATF7 PPP1R1A HNRNPA1 SCAT2 GTSF1 piR-43106-044
GH12J054564 Enhancer 1 Ensembl ENCODE CraniofacialAtlas 11.4 +22.9 22859 2.8 POLR2A ZBTB20 ZBTB17 YY1 NCOR1 TAL1 TCF12 FOS SMARCA4 REST PPP1R1A NCKAP1L piR-43106-044 PDE1B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PPP1R1A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PPP1R1A

Top Transcription factor binding sites by QIAGEN in the PPP1R1A gene promoter:
  • C/EBPbeta
  • FOXO3
  • FOXO3a
  • FOXO3b
  • HEN1
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1a

Genomic Locations for PPP1R1A Gene

Genomic Locations for PPP1R1A Gene
chr12:54,575,387-54,588,659
(GRCh38/hg38)
Size:
13,273 bases
Orientation:
Minus strand
chr12:54,969,171-54,982,443
(GRCh37/hg19)
Size:
13,273 bases
Orientation:
Minus strand

Genomic View for PPP1R1A Gene

Genes around PPP1R1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPP1R1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPP1R1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPP1R1A Gene

Proteins for PPP1R1A Gene

  • Protein details for PPP1R1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13522-PPR1A_HUMAN
    Recommended name:
    Protein phosphatase 1 regulatory subunit 1A
    Protein Accession:
    Q13522
    Secondary Accessions:
    • Q6IB01
    • Q8TBJ2
    • Q8WWV2

    Protein attributes for PPP1R1A Gene

    Size:
    171 amino acids
    Molecular mass:
    19011 Da
    Quaternary structure:
    • Interacts with PPP1R15A.

neXtProt entry for PPP1R1A Gene

Post-translational modifications for PPP1R1A Gene

Other Protein References for PPP1R1A Gene

No data available for DME Specific Peptides for PPP1R1A Gene

Domains & Families for PPP1R1A Gene

Gene Families for PPP1R1A Gene

Protein Domains for PPP1R1A Gene

InterPro:
Blocks:
  • Protein phosphatase inhibitor, 1DARPP-32
ProtoNet:

Suggested Antigen Peptide Sequences for PPP1R1A Gene

GenScript: Design optimal peptide antigens:
  • Protein phosphatase inhibitor 1 (PPR1A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13522

UniProtKB/Swiss-Prot:

PPR1A_HUMAN :
  • Belongs to the protein phosphatase inhibitor 1 family.
Family:
  • Belongs to the protein phosphatase inhibitor 1 family.
genes like me logo Genes that share domains with PPP1R1A: view

Function for PPP1R1A Gene

Molecular function for PPP1R1A Gene

UniProtKB/Swiss-Prot Function:
Inhibitor of protein-phosphatase 1. This protein may be important in hormonal control of glycogen metabolism. Hormones that elevate intracellular cAMP increase I-1 activity in many tissues. I-1 activation may impose cAMP control over proteins that are not directly phosphorylated by PKA. Following a rise in intracellular calcium, I-1 is inactivated by calcineurin (or PP2B). Does not inhibit type-2 phosphatases.

Phenotypes From GWAS Catalog for PPP1R1A Gene

Gene Ontology (GO) - Molecular Function for PPP1R1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004864 protein phosphatase inhibitor activity IEA --
GO:0004865 protein serine/threonine phosphatase inhibitor activity TAS 8611507
GO:0005515 protein binding IPI 11564868
genes like me logo Genes that share ontologies with PPP1R1A: view
genes like me logo Genes that share phenotypes with PPP1R1A: view

Animal Models for PPP1R1A Gene

MGI Knock Outs for PPP1R1A:

Animal Model Products

  • Taconic Biosciences Mouse Models for PPP1R1A

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPP1R1A

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PPP1R1A Gene

Localization for PPP1R1A Gene

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 PPP1R1A gene
Compartment Confidence
extracellular 3
nucleus 2
endoplasmic reticulum 2
cytosol 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PPP1R1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IEA --
GO:0005737 cytoplasm IEA,IBA 21873635
genes like me logo Genes that share ontologies with PPP1R1A: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for PPP1R1A Gene

Pathways & Interactions for PPP1R1A Gene

PathCards logo

SuperPathways for PPP1R1A Gene

SuperPathway Contained pathways
1 Activation of cAMP-Dependent PKA
.77
.77
.71
.56
2 Beta-Adrenergic Signaling
.37
.37
.37
.37
3 Long-term potentiation
4 cGMP-PKG signaling pathway
5 mTOR Pathway
genes like me logo Genes that share pathways with PPP1R1A: view

Pathways by source for PPP1R1A Gene

1 BioSystems pathway for PPP1R1A Gene
2 GeneGo (Thomson Reuters) pathways for PPP1R1A Gene
  • Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling
  • Regulation of lipid metabolism Insulin signaling-generic cascades
1 Tocris pathway for PPP1R1A Gene
14 Qiagen pathways for PPP1R1A Gene
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Beta-Adrenergic Signaling
  • Breast Cancer Regulation by Stathmin1
  • cAMP Pathway

SIGNOR curated interactions for PPP1R1A Gene

Gene Ontology (GO) - Biological Process for PPP1R1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0005977 glycogen metabolic process IEA --
GO:0007165 signal transduction IEA --
GO:0032515 negative regulation of phosphoprotein phosphatase activity IEA --
GO:0035556 intracellular signal transduction IBA 21873635
genes like me logo Genes that share ontologies with PPP1R1A: view

Drugs & Compounds for PPP1R1A Gene

(2) Drugs for PPP1R1A Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cyclic amp Experimental Pharma 0
Calcium Nutra 6556
genes like me logo Genes that share compounds with PPP1R1A: view

Transcripts for PPP1R1A Gene

mRNA/cDNA for PPP1R1A Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPP1R1A

Alternative Splicing Database (ASD) splice patterns (SP) for PPP1R1A Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b
SP1:
SP2: -
SP3: - -

Relevant External Links for PPP1R1A Gene

GeneLoc Exon Structure for
PPP1R1A

Expression for PPP1R1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PPP1R1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PPP1R1A Gene

This gene is overexpressed in Muscle - Skeletal (x12.0), Adipose - Subcutaneous (x4.5), and Brain - Putamen (basal ganglia) (x4.0).

Protein differential expression in normal tissues from HIPED for PPP1R1A Gene

This gene is overexpressed in Heart (47.7), Fetal Brain (11.4), and Fetal heart (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PPP1R1A Gene



Protein tissue co-expression partners for PPP1R1A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PPP1R1A

SOURCE GeneReport for Unigene cluster for PPP1R1A Gene:

Hs.505662

Evidence on tissue expression from TISSUES for PPP1R1A Gene

  • Liver(4.6)
  • Heart(4.6)
  • Nervous system(4.5)
  • Muscle(3.7)
  • Pancreas(2.8)
  • Kidney(2.5)
genes like me logo Genes that share expression patterns with PPP1R1A: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PPP1R1A Gene

Orthologs for PPP1R1A Gene

This gene was present in the common ancestor of chordates.

Orthologs for PPP1R1A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PPP1R1A 30 31
  • 98.2 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ppp1r1a 30 17 31
  • 86.35 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ppp1r1a 30
  • 84.8 (n)
Cow
(Bos Taurus)
Mammalia PPP1R1A 31
  • 77 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PPP1R1A 31
  • 54 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia PPP1R1A 31
  • 42 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PPP1R1A 31
  • 43 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398661 30
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.15285 30
Species where no ortholog for PPP1R1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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)
  • Zebrafish (Danio rerio)

Evolution for PPP1R1A Gene

ENSEMBL:
Gene Tree for PPP1R1A (if available)
TreeFam:
Gene Tree for PPP1R1A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PPP1R1A: view image

Paralogs for PPP1R1A Gene

Paralogs for PPP1R1A Gene

(3) SIMAP similar genes for PPP1R1A Gene using alignment to 4 proteins:

  • PPR1A_HUMAN
  • F8VR76_HUMAN
  • H0YIU4_HUMAN
  • R4GMQ8_HUMAN

Pseudogenes.org Pseudogenes for PPP1R1A Gene

genes like me logo Genes that share paralogs with PPP1R1A: view

Variants for PPP1R1A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PPP1R1A Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
782780 Benign: not provided 54,581,054(-) G/A INTRON_VARIANT
rs1064792893 Uncertain Significance: Rosette-forming glioneuronal tumor 54,582,006(-) AC/TG MISSENSE_VARIANT
rs1249958 - p.Glu109Gly
rs34376731 - p.Gly147Asp

Additional dbSNP identifiers (rs#s) for PPP1R1A Gene

Structural Variations from Database of Genomic Variants (DGV) for PPP1R1A Gene

Variant ID Type Subtype PubMed ID
nsv832421 CNV gain 17160897

Variation tolerance for PPP1R1A Gene

Residual Variation Intolerance Score: 50% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.16; 39.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPP1R1A Gene

Human Gene Mutation Database (HGMD)
PPP1R1A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPP1R1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPP1R1A Gene

Disorders for PPP1R1A Gene

MalaCards: The human disease database

(1) MalaCards diseases for PPP1R1A Gene - From: GeneCards

Disorder Aliases PubMed IDs
rosette-forming glioneuronal tumor
  • rgnt
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PPP1R1A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with PPP1R1A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PPP1R1A Gene

Publications for PPP1R1A Gene

  1. Multiple structural elements define the specificity of recombinant human inhibitor-1 as a protein phosphatase-1 inhibitor. (PMID: 8611507) Endo S … Shenolikar S (Biochemistry 1996) 2 3 4 23
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
  3. The human G147D-protein phosphatase 1 inhibitor-1 polymorphism is not associated with altered clinical characteristics in heart failure. (PMID: 18698139) Chen G … Kranias EG (Cardiology 2009) 3 41
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Growth arrest and DNA damage-inducible protein GADD34 assembles a novel signaling complex containing protein phosphatase 1 and inhibitor 1. (PMID: 11564868) Connor JH … Shenolikar S (Molecular and cellular biology 2001) 3 4

Products for PPP1R1A Gene

Sources for PPP1R1A Gene