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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
  • Protein Phosphatase 6, Regulatory Subunit 1 2 3
  • SAPS Domain Family, Member 1 2 3
  • SAPS1 3 4
  • PP6R1 3 4
  • 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 PPP6R2.

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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around PPP6R1 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for PPP6R1 Gene at MOPED

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:

Antibody Products

  • Abcam antibodies for SAPS1

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.

Phenotypes for PPP6R1 Gene

GenomeRNAi human phenotypes for PPP6R1:
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

No data available for Gene Ontology (GO) - Cellular Components for PPP6R1 Gene

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:0018279 protein N-linked glycosylation via asparagine TAS --
GO:0043687 post-translational protein modification TAS --
GO:0061024 membrane organization 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

Unigene Clusters for PPP6R1 Gene

Protein phosphatase 6, regulatory subunit 1:
Representative Sequences:

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



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

Protein tissue co-expression partners for PPP6R1 Gene

- Elite partner

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
dog
(Canis familiaris)
Mammalia PPP6R1 35
  • 87.03 (n)
  • 88.8 (a)
PPP6R1 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ppp6r1 35
  • 83.88 (n)
  • 86.21 (a)
Ppp6r1 16
Ppp6r1 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PPP6R1 35
  • 98.33 (n)
  • 98.29 (a)
PPP6R1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ppp6r1 35
  • 83.59 (n)
  • 86.26 (a)
cow
(Bos Taurus)
Mammalia PPP6R1 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 74 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia PPP6R1 36
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppp6r1 35
  • 65.71 (n)
  • 66.76 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10289 36
  • 12 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea saps-1 36
  • 12 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SAP155 36
  • 11 (a)
ManyToMany
SAP185 36
  • 11 (a)
ManyToMany
SAP190 36
  • 10 (a)
ManyToMany
SAP4 36
  • 10 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8358 36
  • 48 (a)
OneToMany
Species with no ortholog for PPP6R1:
  • 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
rs7256381 -- 55,258,997(+) GCTCC(C/G)TCCGC upstream-variant-2KB
rs7256388 -- 55,250,409(+) GTAGT(A/G)GACAC intron-variant
rs7256938 -- 55,259,435(+) GCTCT(A/C)GCGCT upstream-variant-2KB
rs7258327 -- 55,247,260(+) CGCCC(C/T)GGGAC intron-variant
rs7258481 -- 55,255,685(+) CTCTT(A/G)CTACC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PPP6R1 Gene

Variant ID Type Subtype PubMed ID
nsv912454 CNV Loss 21882294
dgv4016n71 CNV Loss 21882294
nsv912457 CNV Loss 21882294
nsv912458 CNV Loss 21882294

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links 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 67
  2. Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. (PMID: 25609649) Li X. … Chen J. (Mol. Syst. Biol. 2015) 3
  3. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3

Products for PPP6R1 Gene

Sources for PPP6R1 Gene

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