Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PPP6C Gene

Aliases for PPP6C Gene

  • Protein Phosphatase 6 Catalytic Subunit 2 3 5
  • PP6C 3 4
  • Serine/Threonine-Protein Phosphatase 6 Catalytic Subunit 3
  • Serine/Threonine Protein Phosphatase Catalytic Subunit 3
  • Protein Phosphatase 6, Catalytic Subunit 2
  • EC 3.1.3.16 4
  • PPP6 4
  • PP6 3

External Ids for PPP6C Gene

Previous GeneCards Identifiers for PPP6C Gene

  • GC09M119026
  • GC09M119557
  • GC09M121365
  • GC09M123287
  • GC09M124990
  • GC09M126948
  • GC09M127908
  • GC09M097520

Summaries for PPP6C Gene

Entrez Gene Summary for PPP6C Gene

  • This gene encodes the catalytic subunit of protein phosphatase, a component of a signaling pathway regulating cell cycle progression. Splice variants encoding different protein isoforms exist. The pseudogene of this gene is located on chromosome X. [provided by RefSeq, Jul 2008]

GeneCards Summary for PPP6C Gene

PPP6C (Protein Phosphatase 6 Catalytic Subunit) is a Protein Coding gene. Diseases associated with PPP6C include Pineal Parenchymal Tumor Of Intermediate Differentiation and Usher Syndrome, Type Ic. 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 hydrolase activity and protein serine/threonine phosphatase activity.

UniProtKB/Swiss-Prot for PPP6C Gene

  • Catalytic subunit of protein phosphatase 6 (PP6). PP6 is a component of a signaling pathway regulating cell cycle progression in response to IL2 receptor stimulation. N-terminal domain restricts G1 to S phase progression in cancer cells, in part through control of cyclin D1. Downregulates MAP3K7 kinase activation of the IL1 signaling pathway by dephosphorylation of MAP3K7. Participates also in the innate immune defense against viruses by desphosphorylating RIG-I/DDX58, an essential step that triggers RIG-I/DDX58-mediated signaling activation.

Gene Wiki entry for PPP6C Gene

Additional gene information for PPP6C Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPP6C Gene

Genomics for PPP6C Gene

GeneHancer (GH) Regulatory Elements for PPP6C Gene

Promoters and enhancers for PPP6C 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
GH09J125189 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 +0.1 85 2.5 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B PPP6C RABEPK PRPS1P2 GAPVD1 RNU6-1020P NDUFB3P2
GH09J125188 Enhancer 0.3 ENCODE 650.7 +1.4 1440 0.1 MLLT1 PPP6C NDUFB3P2
GH09J124939 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 9.9 +248.6 248630 3 HDGF SMAD1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 GOLGA1 GC09P124941 GAPVD1 ARPC5L PRPS1P2 SCAI PPP6C GC09M124944
GH09J125271 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.7 -82.6 -82553 1.8 PKNOX1 FOXA2 MLX ARID4B NEUROD1 SIN3A ETS1 YY1 RXRA PPARG GAPVD1 RNU6-1020P PPP6C RPS10P17 GC09M125304
GH09J125374 Enhancer 1 Ensembl ENCODE 9.9 -184.9 -184853 0.8 ELF3 RB1 SIN3A IRF4 RAD21 ZNF335 ARID2 ZNF143 BCLAF1 RUNX3 GAPVD1 RNU6-1020P RPSAP76 RABEPK RPL35 ARPC5L WDR38 PPP6C GC09P125379 ENSG00000227845
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PPP6C on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PPP6C gene promoter:
  • AREB6
  • COMP1
  • XBP-1
  • GATA-3
  • AML1a
  • Sox9
  • C/EBPalpha

Genomic Locations for PPP6C Gene

Genomic Locations for PPP6C Gene
chr9:125,146,573-125,189,939
(GRCh38/hg38)
Size:
43,367 bases
Orientation:
Minus strand
chr9:127,908,852-127,952,218
(GRCh37/hg19)
Size:
43,367 bases
Orientation:
Minus strand

Genomic View for PPP6C Gene

Genes around PPP6C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPP6C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPP6C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPP6C Gene

Proteins for PPP6C Gene

  • Protein details for PPP6C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00743-PPP6_HUMAN
    Recommended name:
    Serine/threonine-protein phosphatase 6 catalytic subunit
    Protein Accession:
    O00743
    Secondary Accessions:
    • B2R5V6
    • B7Z2W9
    • B7Z5K9
    • Q5U0A2
    • Q9UIC9

    Protein attributes for PPP6C Gene

    Size:
    305 amino acids
    Molecular mass:
    35144 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Protein phosphatase 6 (PP6) holoenzyme is proposed to be a heterotrimeric complex formed by the catalytic subunit, a SAPS domain-containing subunit (PP6R) and an ankyrin repeat-domain containing regulatory subunit (ARS). Interacts with IGBP1, MAP3K7, NFKBIE, PPP6R1, PPP6R2 and PPP6R3. Interacts with TRIM14 and WRNIP1; these interactions positively regulate the RIG-I/DDX58 signaling pathway (PubMed:29053956).

    Alternative splice isoforms for PPP6C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPP6C Gene

Post-translational modifications for PPP6C Gene

  • Ubiquitination at Lys231, posLast=219219, posLast=188188, posLast=132132, and Lys8
  • Modification sites at PhosphoSitePlus

Other Protein References for PPP6C Gene

No data available for DME Specific Peptides for PPP6C Gene

Domains & Families for PPP6C Gene

Gene Families for PPP6C Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

O00743

UniProtKB/Swiss-Prot:

PPP6_HUMAN :
  • Belongs to the PPP phosphatase family. PP-6 (PP-V) subfamily.
Family:
  • Belongs to the PPP phosphatase family. PP-6 (PP-V) subfamily.
genes like me logo Genes that share domains with PPP6C: view

Function for PPP6C Gene

Molecular function for PPP6C Gene

UniProtKB/Swiss-Prot Function:
Catalytic subunit of protein phosphatase 6 (PP6). PP6 is a component of a signaling pathway regulating cell cycle progression in response to IL2 receptor stimulation. N-terminal domain restricts G1 to S phase progression in cancer cells, in part through control of cyclin D1. Downregulates MAP3K7 kinase activation of the IL1 signaling pathway by dephosphorylation of MAP3K7. Participates also in the innate immune defense against viruses by desphosphorylating RIG-I/DDX58, an essential step that triggers RIG-I/DDX58-mediated signaling activation.
UniProtKB/Swiss-Prot CatalyticActivity:
[a protein]-serine/threonine phosphate + H(2)O = [a protein]-serine/threonine + phosphate.
UniProtKB/Swiss-Prot Induction:
Regulated by IL2/interleukin-2 in peripheral blood T cells.
GENATLAS Biochemistry:
serine/threonine protein phosphatase 6C,catalytic subunit,S cerevisiae Sit4P,cell-cycle regulatory gene,homolog

Enzyme Numbers (IUBMB) for PPP6C Gene

Phenotypes From GWAS Catalog for PPP6C Gene

Gene Ontology (GO) - Molecular Function for PPP6C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004721 phosphoprotein phosphatase activity IEA --
GO:0004722 protein serine/threonine phosphatase activity TAS --
GO:0005515 protein binding IPI 9647778
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PPP6C: view
genes like me logo Genes that share phenotypes with PPP6C: view

Animal Models for PPP6C Gene

MGI Knock Outs for PPP6C:
  • Ppp6c Ppp6c<tm1b(EUCOMM)Hmgu>
  • Ppp6c Ppp6c<tm1.1Shma>

Animal Model Products

  • Taconic Biosciences Mouse Models for PPP6C

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPP6C

Clone Products

  • Addgene plasmids for PPP6C

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PPP6C Gene

Localization for PPP6C Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPP6C Gene

Mitochondrion. 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 PPP6C gene
Compartment Confidence
cytosol 5
mitochondrion 3
nucleus 3
extracellular 2
cytoskeleton 2
golgi apparatus 2
plasma membrane 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for PPP6C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol IDA,TAS --
genes like me logo Genes that share ontologies with PPP6C: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PPP6C Gene

Pathways & Interactions for PPP6C Gene

genes like me logo Genes that share pathways with PPP6C: view

SIGNOR curated interactions for PPP6C Gene

Inactivates:

Gene Ontology (GO) - Biological Process for PPP6C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000082 G1/S transition of mitotic cell cycle TAS 9013334
GO:0002376 immune system process IEA --
GO:0006470 protein dephosphorylation TAS,IDA 16716191
GO:0007049 cell cycle IEA --
GO:0045087 innate immune response IEA --
genes like me logo Genes that share ontologies with PPP6C: view

Drugs & Compounds for PPP6C Gene

(4) Drugs for PPP6C Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
calcium Approved Nutra 0
Manganese Approved Nutra 37

(2) Additional Compounds for PPP6C Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • FE (II) ion
  • Fe(II)
  • Fe(2+)
  • Ferrous ion
  • Iron ion(2+)
15438-31-0
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14265-44-2
genes like me logo Genes that share compounds with PPP6C: view

Transcripts for PPP6C Gene

Unigene Clusters for PPP6C Gene

Protein phosphatase 6, catalytic subunit:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPP6C

Clone Products

  • Addgene plasmids for PPP6C

Alternative Splicing Database (ASD) splice patterns (SP) for PPP6C Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b
SP1: -
SP2: - -
SP3: - - - -
SP4:

Relevant External Links for PPP6C Gene

GeneLoc Exon Structure for
PPP6C
ECgene alternative splicing isoforms for
PPP6C

Expression for PPP6C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PPP6C Gene

Protein differential expression in normal tissues from HIPED for PPP6C Gene

This gene is overexpressed in Bone (16.2) and Peripheral blood mononuclear cells (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PPP6C Gene



Protein tissue co-expression partners for PPP6C Gene

NURSA nuclear receptor signaling pathways regulating expression of PPP6C Gene:

PPP6C

SOURCE GeneReport for Unigene cluster for PPP6C Gene:

Hs.744091

mRNA Expression by UniProt/SwissProt for PPP6C Gene:

O00743-PPP6_HUMAN
Tissue specificity: Ubiquitously expressed in all tissues tested with highest expression levels in testis, heart, kidney, brain, stomach, liver and skeletal muscle and lowest in placenta, lung colon and spleen.

Evidence on tissue expression from TISSUES for PPP6C Gene

  • Nervous system(4.9)
  • Liver(4.3)
  • Muscle(2.3)
  • Kidney(2.2)
  • Blood(2.1)
  • Lung(2.1)
  • Intestine(2)
genes like me logo Genes that share expression patterns with PPP6C: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PPP6C Gene

Orthologs for PPP6C Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PPP6C Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia PPP6C 34
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PPP6C 34 33
  • 99.89 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PPP6C 34 33
  • 96.5 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PPP6C 34 33
  • 96.5 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ppp6c 16 34 33
  • 93.66 (n)
rat
(Rattus norvegicus)
Mammalia Ppp6c 33
  • 93.33 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PPP6C 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves PPP6C 34 33
  • 84.81 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PPP6C 34
  • 100 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppp6c 33
  • 81.42 (n)
Str.17180 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.6132 33
zebrafish
(Danio rerio)
Actinopterygii ppp6c 34 33
  • 81.75 (n)
OneToOne
zgc56227 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003017 33
  • 67.66 (n)
fruit fly
(Drosophila melanogaster)
Insecta PpV 34 35 33
  • 67 (n)
OneToOne
CG11597 35
  • 51 (a)
worm
(Caenorhabditis elegans)
Secernentea C34C12.3 35
  • 61 (a)
pph-6 34 33
  • 60.63 (n)
OneToOne
C27B7.6 35
  • 37 (a)
F42G8.8 35
  • 36 (a)
F49E11.7 35
  • 34 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D03652g 33
  • 62.68 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SIT4 36 34 33
  • 60.56 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER202C 33
  • 58.92 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons FYPP3 33
  • 66.56 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.8766 33
rice
(Oryza sativa)
Liliopsida Os01g0691700 33
  • 66.45 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 79 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ppe1 33
  • 65.78 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03436 33
  • 61.36 (n)
Species where no ortholog for PPP6C was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PPP6C Gene

ENSEMBL:
Gene Tree for PPP6C (if available)
TreeFam:
Gene Tree for PPP6C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PPP6C: view image

Paralogs for PPP6C Gene

(12) SIMAP similar genes for PPP6C Gene using alignment to 3 proteins:

  • PPP6_HUMAN
  • B7Z3E2_HUMAN
  • Q5T1S7_HUMAN

Pseudogenes.org Pseudogenes for PPP6C Gene

genes like me logo Genes that share paralogs with PPP6C: view

No data available for Paralogs for PPP6C Gene

Variants for PPP6C Gene

Sequence variations from dbSNP and Humsavar for PPP6C Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs763733111 likely-pathogenic, Malignant melanoma of skin, Squamous cell carcinoma of lung 125,149,801(-) G/A coding_sequence_variant, missense_variant
rs1000061399 -- 125,189,086(-) A/T genic_upstream_transcript_variant, intron_variant
rs1000065971 -- 125,161,844(-) T/C intron_variant
rs1000108773 -- 125,149,765(-) C/T coding_sequence_variant, missense_variant
rs1000183448 -- 125,170,480(-) A/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PPP6C Gene

Variant ID Type Subtype PubMed ID
esv23913 CNV loss 19812545
esv2669933 CNV deletion 23128226
esv2673169 CNV deletion 23128226
esv3621735 CNV loss 21293372
esv3621736 CNV gain 21293372
esv3621737 CNV loss 21293372
nsv436612 CNV deletion 17901297

Variation tolerance for PPP6C Gene

Residual Variation Intolerance Score: 34.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.67; 14.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPP6C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPP6C

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPP6C Gene

Disorders for PPP6C Gene

MalaCards: The human disease database

(4) MalaCards diseases for PPP6C Gene - From: DISEASES

Disorder Aliases PubMed IDs
pineal parenchymal tumor of intermediate differentiation
  • pineal parenchymal tumour of intermediate differentiation
usher syndrome, type ic
  • ush1c
hereditary wilms' tumor
  • wt1
spinocerebellar ataxia 12
  • sca12
- elite association - COSMIC cancer census association via MalaCards
Search PPP6C in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PPP6C

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PPP6C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PPP6C Gene

Publications for PPP6C 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) 3 4 22 58
  2. Assembly of the WHIP-TRIM14-PPP6C Mitochondrial Complex Promotes RIG-I-Mediated Antiviral Signaling. (PMID: 29053956) Tan P … Wang RF (Molecular cell 2017) 3 4 58
  3. Lack of replication of celiac disease risk variants reported in a Spanish population using an independent Spanish sample. (PMID: 19626039) Dema B … Núñez C (Genes and immunity 2009) 3 44 58
  4. Protein phosphatase 6 regulatory subunits composed of ankyrin repeat domains. (PMID: 18186651) Stefansson B … Brautigan DL (Biochemistry 2008) 3 4 58
  5. Protein phosphatase PP6 N terminal domain restricts G1 to S phase progression in human cancer cells. (PMID: 17568194) Stefansson B … Brautigan DL (Cell cycle (Georgetown, Tex.) 2007) 3 4 58

Products for PPP6C Gene

Sources for PPP6C Gene

Content
Loading form....