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Aliases for PPP6R1 Gene

Aliases for PPP6R1 Gene

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

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. Among its related pathways are Transport to the Golgi and subsequent modification and Vesicle-mediated transport. GO annotations related to this gene include binding and protein phosphatase binding. An important paralog of this gene is PPP6R3.

UniProtKB/Swiss-Prot 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPP6R1 Gene

Genomics for PPP6R1 Gene

Regulatory Elements for PPP6R1 Gene

Enhancers for PPP6R1 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
GH19F055227 1 Ensembl ENCODE 19.7 +29.2 29175 5.0 ELF3 ARID4B THRB RAD21 RARA YY1 GATA4 THAP11 PAF1 SP5 PPP6R1 TMEM86B ENSG00000276570
GH19F055337 1 FANTOM5 ENCODE 14.2 -80.8 -80833 4.0 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 LENG8-AS1 HSPBP1 FAM71E2 KMT5C PPP6R1 ZNF628 U2AF2 TMEM238 IL11 TMEM190
GH19F055246 0.4 ENCODE 12.7 +5.1 5137 14.5 CREB3L1 MLX DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21 HSPBP1 TMEM86B ZNF628 RFPL4AP1 RPL13P13 PPP6R1 BRSK1 MIR6805 RPL28 TMEM238
GH19F055291 1.1 Ensembl ENCODE 12.1 -33.0 -33039 1.0 ELF3 TBP HDAC1 PKNOX1 ARNT ARID4B SIN3A RAD21 RFX5 GTF3C2 ZNF581 U2AF2 ENSG00000267523 ENSG00000235681 ENSG00000267265 LENG8-AS1 ZNF628 PPP6R1 MIR6805 RPL28
GH19F055300 0.5 ENCODE 11.9 -42.9 -42852 2.0 TBP SIN3A RAD21 RFX5 GLIS2 ZNF143 RCOR1 KLF13 EGR2 THAP11 TMEM86B TMEM150B KMT5C HSPBP1 PPP6R1 MIR6805 RPL28 TMEM238 UBE2S TMEM190
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PPP6R1 on UCSC Golden Path with GeneCards custom track

Promoters for PPP6R1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000218024 295 2601 CREB3L1 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC
ENSR00001818940 1895 201 ELF3 SOX5 SAP130 ARID4B MAX HMG20A HBP1 TCF7 ZSCAN29 CREM

Genomic Location for PPP6R1 Gene

Chromosome:
19
Start:
55,229,779 bp from pter
End:
55,258,995 bp from pter
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=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for PPP6R1 Gene

Post-translational modifications for PPP6R1 Gene

  • Ubiquitination at Lys 190, Lys 203, and Lys 480
  • 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

Suggested Antigen Peptide Sequences for PPP6R1 Gene

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.

Gene Ontology (GO) - Molecular Function for PPP6R1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 14743216
GO:0019903 protein phosphatase binding IPI 16716191
genes like me logo Genes that share ontologies with PPP6R1: view

Phenotypes for PPP6R1 Gene

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

Animal Model Products

miRNA for PPP6R1 Gene

miRTarBase miRNAs that target PPP6R1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
Jensen Localization Image for PPP6R1 Gene COMPARTMENTS Subcellular localization image for PPP6R1 gene
Compartment Confidence
cytosol 5
golgi apparatus 4
nucleus 3

Gene Ontology (GO) - Cellular Components for PPP6R1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005737 cytoplasm IDA --
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 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

Transcripts for PPP6R1 Gene

Unigene Clusters for PPP6R1 Gene

Protein phosphatase 6, regulatory subunit 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for PPP6R1 Gene

GeneLoc Exon Structure for
PPP6R1
ECgene alternative splicing isoforms for
PPP6R1

Expression for PPP6R1 Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for PPP6R1 Gene



Protein tissue co-expression partners for PPP6R1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PPP6R1 Gene:

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.
genes like me logo Genes that share expression patterns with PPP6R1: view

Primer Products

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 34 35
  • 98.33 (n)
dog
(Canis familiaris)
Mammalia PPP6R1 34 35
  • 87.03 (n)
mouse
(Mus musculus)
Mammalia Ppp6r1 34 16 35
  • 83.88 (n)
rat
(Rattus norvegicus)
Mammalia Ppp6r1 34
  • 83.59 (n)
cow
(Bos Taurus)
Mammalia PPP6R1 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 74 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia PPP6R1 35
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppp6r1 34
  • 65.71 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10289 35
  • 12 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea saps-1 35
  • 12 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SAP155 35
  • 11 (a)
ManyToMany
SAP185 35
  • 11 (a)
ManyToMany
SAP190 35
  • 10 (a)
ManyToMany
SAP4 35
  • 10 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8358 35
  • 48 (a)
OneToMany
Species where no ortholog for PPP6R1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for PPP6R1 Gene

Paralogs for PPP6R1 Gene

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

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

Variants for PPP6R1 Gene

Sequence variations from dbSNP and Humsavar for PPP6R1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs10405047 -- 55,240,558(+) ACACA(C/T)GCATG intron-variant, upstream-variant-2KB
rs10421088 -- 55,252,308(+) caccg(C/T)aacct intron-variant
rs10424537 -- 55,255,621(+) AGTGA(C/T)TCCCA intron-variant
rs111308783 -- 55,255,272(+) AAATC(A/G)TCTCC intron-variant
rs111319816 -- 55,246,946(+) GCAGG(A/G/T)GGGGT upstream-variant-2KB, reference, missense

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)

Relevant External Links 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

Relevant External Links for PPP6R1

Genetic Association Database (GAD)
PPP6R1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PPP6R1

No disorders were found for PPP6R1 Gene.

No data available for MalaCards , 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 D.L. (J. Biol. Chem. 2006) 2 3 4 64
  2. Protein phosphatase 6 regulatory subunits composed of ankyrin repeat domains. (PMID: 18186651) Stefansson B. … Brautigan D.L. (Biochemistry 2008) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  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 Res. 1999) 3 4 64
  5. Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. (PMID: 25609649) Li X. … Chen J. (Mol. Syst. Biol. 2015) 3 64

Products for PPP6R1 Gene

Sources for PPP6R1 Gene

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