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Aliases for PPP6C Gene

Aliases for PPP6C Gene

  • Protein Phosphatase 6 Catalytic Subunit 2 3 5
  • EC 3.1.3.16 4 61
  • PP6C 3 4
  • Serine/Threonine-Protein Phosphatase 6 Catalytic Subunit 3
  • Serine/Threonine Protein Phosphatase Catalytic Subunit 3
  • Protein Phosphatase 6, Catalytic Subunit 2
  • 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 1C. Among its related pathways are Vesicle-mediated transport and Transport to the Golgi and subsequent modification. 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.

Gene Wiki entry 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

Regulatory Elements for PPP6C Gene

Enhancers for PPP6C 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
GH09G125271 1.5 Ensembl ENCODE dbSUPER 10.7 -82.6 -82554 1.8 PKNOX1 FOXA2 ATF1 MLX ARID4B SIN3A ZNF2 ZBTB7B YY1 CBX5 GAPVD1 RNU6-1020P PPP6C RPS10P17 GC09M125304
GH09G124939 1.1 ENCODE 9.9 +248.6 248631 3.0 HDGF FOXA2 CREB3L1 ARNT AGO1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ARPC5L SCAI PPP6C GAPVD1 GC09M124944 GC09P124941
GH09G125374 1.1 Ensembl ENCODE 9.8 -184.9 -184854 0.8 ELF3 HDAC1 ATF1 CBX3 PKNOX1 RB1 RAD21 CREM DEK THAP11 GAPVD1 RNU6-1020P RABEPK RPSAP76 ARPC5L RPL35 WDR38 PPP6C ENSG00000227845 GC09P125379
GH09G125407 1.6 FANTOM5 Ensembl ENCODE 5.2 -219.5 -219548 3.8 HDGF PKNOX1 ARNT AGO1 SIN3A ZNF2 YY1 CBX5 ZNF207 ZNF143 LOC101929116 PRPS1P2 PPP6C GAPVD1 PBX3 LOC101929014 GC09P125397
GH09G124201 1.8 FANTOM5 Ensembl ENCODE dbSUPER 4.1 +987.0 987038 2.6 PKNOX1 ARNT SIN3A ZNF766 ZNF143 ZNF207 FOS DEK JUNB REST PPP6C GC09M124203 LOC105376268
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PPP6C on UCSC Golden Path with GeneCards custom track

Promoters for PPP6C Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000241388 339 2001 HDGF PKNOX1 FOXA2 CREB3L1 MLX ARNT AGO1 ARID4B SIN3A DMAP1

Genomic Location for PPP6C Gene

Chromosome:
9
Start:
125,146,573 bp from pter
End:
125,189,939 bp from pter
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.

    Alternative splice isoforms for PPP6C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPP6C Gene

Selected DME Specific Peptides for PPP6C Gene

O00743:
  • GDFVDRG
  • CGDIHGQ
  • YGFYDEC
  • ESNVQPV
  • LFRTGGQVP
  • SAPNYCYRC
  • HGQFYDL
  • KGAFCDLVWSDPED
  • CVHGGLSP
  • HGGLSPDIKTLD
  • RGNHESRQ

Post-translational modifications for PPP6C Gene

  • Ubiquitination at posLast=88, posLast=132132, posLast=188188, posLast=219219, and posLast=231231
  • Modification sites at PhosphoSitePlus

Other Protein References for PPP6C Gene

Domains & Families for PPP6C Gene

Gene Families for PPP6C Gene

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

GENATLAS Biochemistry:
serine/threonine protein phosphatase 6C,catalytic subunit,S cerevisiae Sit4P,cell-cycle regulatory gene,homolog
UniProtKB/Swiss-Prot CatalyticActivity:
[a protein]-serine/threonine phosphate + H(2)O = [a protein]-serine/threonine + phosphate.
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.
UniProtKB/Swiss-Prot Induction:
Regulated by IL2/interleukin-2 in peripheral blood T cells.

Enzyme Numbers (IUBMB) 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 IDA,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:

Animal Model Products

  • Taconic Biosciences Mouse Models for PPP6C

CRISPR Products

Inhibitory RNA Products

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

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
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:0005829 cytosol IDA,TAS --
genes like me logo Genes that share ontologies with PPP6C: view

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:0006470 protein dephosphorylation IDA 16716191
GO:0007049 cell cycle IEA --
GO:0048208 COPII vesicle coating TAS --
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
Manganese Approved Nutra 34
calcium Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
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

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, PaxDb, 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

Primer Products

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 35
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PPP6C 34 35
  • 99.89 (n)
cow
(Bos Taurus)
Mammalia PPP6C 34 35
  • 96.5 (n)
dog
(Canis familiaris)
Mammalia PPP6C 34 35
  • 96.5 (n)
mouse
(Mus musculus)
Mammalia Ppp6c 34 16 35
  • 93.66 (n)
rat
(Rattus norvegicus)
Mammalia Ppp6c 34
  • 93.33 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PPP6C 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves PPP6C 34 35
  • 84.81 (n)
lizard
(Anolis carolinensis)
Reptilia PPP6C 35
  • 100 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppp6c 34
  • 81.42 (n)
Str.17180 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.6132 34
zebrafish
(Danio rerio)
Actinopterygii ppp6c 34 35
  • 81.75 (n)
zgc56227 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003017 34
  • 67.66 (n)
fruit fly
(Drosophila melanogaster)
Insecta PpV 36 34 35
  • 67 (n)
CG11597 36
  • 51 (a)
worm
(Caenorhabditis elegans)
Secernentea C34C12.3 36
  • 61 (a)
pph-6 34 35
  • 60.63 (n)
C27B7.6 36
  • 37 (a)
F42G8.8 36
  • 36 (a)
F49E11.7 36
  • 34 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D03652g 34
  • 62.68 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SIT4 34 35 37
  • 60.56 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER202C 34
  • 58.92 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons FYPP3 34
  • 66.56 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.8766 34
rice
(Oryza sativa)
Liliopsida Os01g0691700 34
  • 66.45 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 79 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ppe1 34
  • 65.78 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03436 34
  • 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)

Paralogs for PPP6C Gene

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

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 Sequence Context AA Info Type
rs1000061399 -- 125,189,086(+) AAGCA(A/T)TTTGG intron-variant
rs1000065971 -- 125,161,844(+) AAGCA(C/T)TACAG intron-variant
rs1000108773 -- 125,149,765(+) TACAT(C/T)TTTGA reference, missense
rs1000183448 -- 125,170,480(+) GATCC(A/C)CCCGC intron-variant
rs1000214591 -- 125,172,772(+) ACACA(A/C)ACACA intron-variant, upstream-variant-2KB

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)

Relevant External Links for PPP6C Gene

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

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

Disorders for PPP6C Gene

MalaCards: The human disease database

(5) MalaCards diseases for PPP6C Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
pineal parenchymal tumor of intermediate differentiation
  • pineal parenchymal tumour of intermediate differentiation
usher syndrome, type 1c
  • usher syndrome type 1c
hereditary wilms' tumor
  • hereditary wilms tumor
spinocerebellar ataxia 12
  • spinocerebellar ataxia type 12
autosomal recessive congenital ichthyosis
  • arci
- elite association - COSMIC cancer census association via MalaCards
Search PPP6C in MalaCards View complete list of genes associated with diseases

Relevant External Links for PPP6C

Genetic Association Database (GAD)
PPP6C
Human Genome Epidemiology (HuGE) Navigator
PPP6C
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PPP6C
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 D.L. (J. Biol. Chem. 2006) 3 4 22 64
  2. Lack of replication of celiac disease risk variants reported in a Spanish population using an independent Spanish sample. (PMID: 19626039) Dema B. … NA_A+ez C. (Genes Immun. 2009) 3 46 64
  3. Protein phosphatase 6 regulatory subunits composed of ankyrin repeat domains. (PMID: 18186651) Stefansson B. … Brautigan D.L. (Biochemistry 2008) 3 4 64
  4. Protein phosphatase PP6 N terminal domain restricts G1 to S phase progression in human cancer cells. (PMID: 17568194) Stefansson B. … Brautigan D.L. (Cell Cycle 2007) 3 4 64
  5. Protein phosphatase 6 down-regulates TAK1 kinase activation in the IL-1 signaling pathway. (PMID: 17079228) Kajino T. … Ninomiya-Tsuji J. (J. Biol. Chem. 2006) 3 4 64

Products for PPP6C Gene

  • Addgene plasmids for PPP6C

Sources for PPP6C Gene

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