Protein phosphatase regulatory subunits, such as SAPS1, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS1 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [Pu... See more...

Aliases for PPP6R1 Gene

Aliases for PPP6R1 Gene

  • Protein Phosphatase 6 Regulatory Subunit 1 2 3 5
  • KIAA1115 2 3 4
  • Serine/Threonine-Protein Phosphatase 6 Regulatory Subunit 1 3 4
  • SAPS Domain Family, Member 1 2 3
  • SAP190 2 3
  • PP6R1 3 4
  • SAPS1 3 4
  • Protein Phosphatase 6, Regulatory Subunit 1 2
  • SAPS Domain Family Member 1 4
  • PPP6R1 5

External Ids for PPP6R1 Gene

Previous HGNC Symbols for PPP6R1 Gene

  • KIAA1115
  • SAPS1

Previous GeneCards Identifiers for PPP6R1 Gene

  • GC19M055742
  • GC19M052064

Summaries for PPP6R1 Gene

Entrez Gene Summary for PPP6R1 Gene

  • Protein phosphatase regulatory subunits, such as SAPS1, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS1 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010]

GeneCards Summary for PPP6R1 Gene

PPP6R1 (Protein Phosphatase 6 Regulatory Subunit 1) is a Protein Coding gene. Diseases associated with PPP6R1 include Denture Stomatitis and Median Rhomboid Glossitis. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include binding and protein phosphatase binding. An important paralog of this gene is PPP6R3.

UniProtKB/Swiss-Prot Summary for PPP6R1 Gene

  • Regulatory subunit of protein phosphatase 6 (PP6). May function as a scaffolding PP6 subunit. Involved in the PP6-mediated dephosphorylation of NFKBIE opposing its degradation in response to TNF-alpha.

Additional gene information for PPP6R1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PPP6R1 Gene

Genomics for PPP6R1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PPP6R1 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 PPP6R1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PPP6R1

Genomic Locations for PPP6R1 Gene

Genomic Locations for PPP6R1 Gene
chr19:55,229,779-55,259,017
(GRCh38/hg38)
Size:
29,239 bases
Orientation:
Minus strand
chr19:55,741,147-55,770,363
(GRCh37/hg19)
Size:
29,217 bases
Orientation:
Minus strand

Genomic View for PPP6R1 Gene

Genes around PPP6R1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPP6R1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPP6R1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPP6R1 Gene

Proteins for PPP6R1 Gene

  • Protein details for PPP6R1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UPN7-PP6R1_HUMAN
    Recommended name:
    Serine/threonine-protein phosphatase 6 regulatory subunit 1
    Protein Accession:
    Q9UPN7
    Secondary Accessions:
    • Q2M2H3
    • Q504V2
    • Q6NVJ6
    • Q9BU97

    Protein attributes for PPP6R1 Gene

    Size:
    881 amino acids
    Molecular mass:
    96724 Da
    Quaternary structure:
    • Protein phosphatase 6 (PP6) holoenzyme is proposed to be a heterotrimeric complex formed of the catalytic subunit, a SAPS domain-containing subunit (PP6R) and an ankyrin repeat-domain containing regulatory subunit (ARS). Interacts with PPP6C and NFKBIE. Interacts with ANKRD28, ANKRD44 and ANKRD52.
    SequenceCaution:
    • Sequence=BAA83067.3; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

neXtProt entry for PPP6R1 Gene

Post-translational modifications for PPP6R1 Gene

  • Ubiquitination at Lys190, Lys203, and Lys480
  • Modification sites at PhosphoSitePlus

Other Protein References for PPP6R1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PPP6R1 Gene

Domains & Families for PPP6R1 Gene

Gene Families for PPP6R1 Gene

Protein Domains for PPP6R1 Gene

InterPro:
Blocks:
  • SIT4 phosphatase-associated protein
ProtoNet:

Suggested Antigen Peptide Sequences for PPP6R1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ56462, highly similar to SAPS domain family member 1 (B4DLT9_HUMAN)
  • SAPS domain family member 1 (PP6R1_HUMAN)
  • SAPS1 protein (Q96ID3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UPN7

UniProtKB/Swiss-Prot:

PP6R1_HUMAN :
  • Belongs to the SAPS family.
Family:
  • Belongs to the SAPS family.
genes like me logo Genes that share domains with PPP6R1: view

Function for PPP6R1 Gene

Molecular function for PPP6R1 Gene

UniProtKB/Swiss-Prot Function:
Regulatory subunit of protein phosphatase 6 (PP6). May function as a scaffolding PP6 subunit. Involved in the PP6-mediated dephosphorylation of NFKBIE opposing its degradation in response to TNF-alpha.

Phenotypes From GWAS Catalog for PPP6R1 Gene

Gene Ontology (GO) - Molecular Function for PPP6R1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 14743216
GO:0017048 Rho GTPase binding IPI 25743393
GO:0019888 protein phosphatase regulator activity IBA 21873635
GO:0019903 protein phosphatase binding IEA,IPI 16716191
genes like me logo Genes that share ontologies with PPP6R1: view

Phenotypes for PPP6R1 Gene

genes like me logo Genes that share phenotypes with PPP6R1: view

Animal Model Products

CRISPR Products

miRNA for PPP6R1 Gene

miRTarBase miRNAs that target PPP6R1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPP6R1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PPP6R1 Gene

Localization for PPP6R1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPP6R1 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 PPP6R1 gene
Compartment Confidence
cytosol 5
nucleus 4
golgi apparatus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PPP6R1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PPP6R1: view

Pathways & Interactions for PPP6R1 Gene

genes like me logo Genes that share pathways with PPP6R1: view

Gene Ontology (GO) - Biological Process for PPP6R1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043666 regulation of phosphoprotein phosphatase activity IEA,IDA 16716191
GO:0048208 COPII vesicle coating TAS --
genes like me logo Genes that share ontologies with PPP6R1: view

No data available for SIGNOR curated interactions for PPP6R1 Gene

Drugs & Compounds for PPP6R1 Gene

No Compound Related Data Available

Transcripts for PPP6R1 Gene

mRNA/cDNA for PPP6R1 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
8 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 PPP6R1

Alternative Splicing Database (ASD) splice patterns (SP) for PPP6R1 Gene

No ASD Table

Relevant External Links for PPP6R1 Gene

GeneLoc Exon Structure for
PPP6R1

Expression for PPP6R1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PPP6R1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PPP6R1 Gene

This gene is overexpressed in Whole Blood (x4.0).

Protein differential expression in normal tissues from HIPED for PPP6R1 Gene

This gene is overexpressed in Bone (21.3), Lymph node (6.5), and Heart (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PPP6R1 Gene



Protein tissue co-expression partners for PPP6R1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PPP6R1

SOURCE GeneReport for Unigene cluster for PPP6R1 Gene:

Hs.515610

mRNA Expression by UniProt/SwissProt for PPP6R1 Gene:

Q9UPN7-PP6R1_HUMAN
Tissue specificity: Ubiquitous with higher expression in testis.

Evidence on tissue expression from TISSUES for PPP6R1 Gene

  • Skin(4.7)
  • Nervous system(4.5)
  • Liver(4.4)
  • Pancreas(2.7)
  • Spleen(2.2)
  • Kidney(2.1)
  • Heart(2)
genes like me logo Genes that share expression patterns with PPP6R1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PPP6R1 Gene

Orthologs for PPP6R1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PPP6R1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PPP6R1 30 31
  • 98.33 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PPP6R1 30 31
  • 87.03 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ppp6r1 30 17 31
  • 83.88 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ppp6r1 30
  • 83.59 (n)
Cow
(Bos Taurus)
Mammalia PPP6R1 31
  • 83 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 74 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia PPP6R1 31
  • 56 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ppp6r1 30
  • 65.71 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG10289 31
  • 12 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea saps-1 31
  • 12 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SAP185 31
  • 11 (a)
ManyToMany
SAP155 31
  • 11 (a)
ManyToMany
SAP4 31
  • 10 (a)
ManyToMany
SAP190 31
  • 10 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8358 31
  • 48 (a)
OneToMany
Species where no ortholog for PPP6R1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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 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)
  • Zebrafish (Danio rerio)

Evolution for PPP6R1 Gene

ENSEMBL:
Gene Tree for PPP6R1 (if available)
TreeFam:
Gene Tree for PPP6R1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PPP6R1: view image

Paralogs for PPP6R1 Gene

Paralogs for PPP6R1 Gene

(3) SIMAP similar genes for PPP6R1 Gene using alignment to 2 proteins:

  • PP6R1_HUMAN
  • K7EM28_HUMAN
genes like me logo Genes that share paralogs with PPP6R1: view

Variants for PPP6R1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PPP6R1 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
769050 Benign: not provided 55,230,541(-) G/A INTRON_VARIANT
778870 Benign: not provided 55,241,629(-) C/T MISSENSE_VARIANT
789673 Benign: not provided 55,232,126(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for PPP6R1 Gene

Variation tolerance for PPP6R1 Gene

Residual Variation Intolerance Score: 54.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.99; 49.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPP6R1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPP6R1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PPP6R1 Gene

Disorders for PPP6R1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PPP6R1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
denture stomatitis
  • denture sore mouth
median rhomboid glossitis
  • persistent tuberculum impar
amyotrophic lateral sclerosis 1
  • als1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PPP6R1

genes like me logo Genes that share disorders with PPP6R1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PPP6R1 Gene

Publications for PPP6R1 Gene

  1. Protein phosphatase 6 subunit with conserved Sit4-associated protein domain targets IkappaBepsilon. (PMID: 16769727) Stefansson B … Brautigan DL (The Journal of biological chemistry 2006) 2 3 4
  2. Protein phosphatase 6 regulatory subunits composed of ankyrin repeat domains. (PMID: 18186651) Stefansson B … Brautigan DL (Biochemistry 2008) 3 4
  3. 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
  4. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10470851) Kikuno R … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 3 4
  5. LMBR1L regulates lymphopoiesis through Wnt/β-catenin signaling. (PMID: 31073040) Choi JH … Beutler B (Science (New York, N.Y.) 2019) 3

Products for PPP6R1 Gene

Sources for PPP6R1 Gene