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Aliases for PPP6R3 Gene

Aliases for PPP6R3 Gene

  • Protein Phosphatase 6, Regulatory Subunit 3 2 3
  • Sporulation-Induced Transcript 4-Associated Protein SAPL 3 4
  • SAPS Domain Family, Member 3 2 3
  • C11orf23 3 4
  • SAPS3 3 4
  • PP6R3 3 4
  • SAPL 3 4
  • Sporulation-Induced Transcript 4-Associated Protein 2
  • Chromosome 11 Open Reading Frame 23 2
  • SAPS Domain Family Member 3 4
  • KIAA1558 4
  • SAP190 3
  • SAPLa 3

External Ids for PPP6R3 Gene

Previous HGNC Symbols for PPP6R3 Gene

  • C11orf23
  • SAPS3

Previous GeneCards Identifiers for PPP6R3 Gene

  • GC11P068229
  • GC11P064564

Summaries for PPP6R3 Gene

Entrez Gene Summary for PPP6R3 Gene

  • Protein phosphatase regulatory subunits, such as SAPS3, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS3 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 PPP6R3 Gene

PPP6R3 (Protein Phosphatase 6, Regulatory Subunit 3) is a Protein Coding gene. Diseases associated with PPP6R3 include decubitus ulcer. 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 PPP6R3 Gene

  • Regulatory subunit of protein phosphatase 6 (PP6). May function as a scaffolding PP6 subunit. May have an important role in maintaining immune self-tolerance.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPP6R3 Gene

Genomics for PPP6R3 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PPP6R3 Gene

Chromosome:
11
Start:
68,460,718 bp from pter
End:
68,615,334 bp from pter
Size:
154,617 bases
Orientation:
Plus strand

Genomic View for PPP6R3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PPP6R3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPP6R3 Gene

No data available for Regulatory Elements for PPP6R3 Gene

Proteins for PPP6R3 Gene

  • Protein details for PPP6R3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5H9R7-PP6R3_HUMAN
    Recommended name:
    Serine/threonine-protein phosphatase 6 regulatory subunit 3
    Protein Accession:
    Q5H9R7
    Secondary Accessions:
    • Q3B7I1
    • Q3I4Y0
    • Q3KR35
    • Q68CR3
    • Q7L4R8
    • Q8N3B2
    • Q96MB2
    • Q9H2K5
    • Q9H2K6
    • Q9HCL4
    • Q9NUY3

    Protein attributes for PPP6R3 Gene

    Size:
    873 amino acids
    Molecular mass:
    97669 Da
    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 PPP6C and ANKRD28.
    SequenceCaution:
    • Sequence=AAZ99639.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA91978.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB13384.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB71396.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for PPP6R3 Gene

neXtProt entry for PPP6R3 Gene

Proteomics data for PPP6R3 Gene at MOPED

Post-translational modifications for PPP6R3 Gene

  • Ubiquitination at Lys 190, Lys 430, and Lys 509
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PPP6R3 Gene

Domains & Families for PPP6R3 Gene

Gene Families for PPP6R3 Gene

Protein Domains for PPP6R3 Gene

Graphical View of Domain Structure for InterPro Entry

Q5H9R7

UniProtKB/Swiss-Prot:

PP6R3_HUMAN :
  • Belongs to the SAPS family.
Family:
  • Belongs to the SAPS family.
genes like me logo Genes that share domains with PPP6R3: view

Function for PPP6R3 Gene

Molecular function for PPP6R3 Gene

UniProtKB/Swiss-Prot Function:
Regulatory subunit of protein phosphatase 6 (PP6). May function as a scaffolding PP6 subunit. May have an important role in maintaining immune self-tolerance.

Gene Ontology (GO) - Molecular Function for PPP6R3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005488 binding --
GO:0005515 protein binding IPI 18186651
GO:0019903 protein phosphatase binding IPI 16716191
genes like me logo Genes that share ontologies with PPP6R3: view
genes like me logo Genes that share phenotypes with PPP6R3: view

Animal Model Products

CRISPR Products

miRNA for PPP6R3 Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PPP6R3

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for PPP6R3 Gene

Localization for PPP6R3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPP6R3 Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PPP6R3 Gene COMPARTMENTS Subcellular localization image for PPP6R3 gene
Compartment Confidence
nucleus 5
plasma membrane 4
cytosol 2

Gene Ontology (GO) - Cellular Components for PPP6R3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with PPP6R3: view

Pathways & Interactions for PPP6R3 Gene

genes like me logo Genes that share pathways with PPP6R3: view

Gene Ontology (GO) - Biological Process for PPP6R3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006516 glycoprotein catabolic process --
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0018279 protein N-linked glycosylation via asparagine TAS --
GO:0043666 regulation of phosphoprotein phosphatase activity IDA 16716191
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with PPP6R3: view

No data available for SIGNOR curated interactions for PPP6R3 Gene

Drugs & Compounds for PPP6R3 Gene

No Compound Related Data Available

Transcripts for PPP6R3 Gene

Unigene Clusters for PPP6R3 Gene

Protein phosphatase 6, regulatory subunit 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PPP6R3

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PPP6R3 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^
SP1: - -
SP2: - - - - - -
SP3: - - - - - -
SP4: - -
SP5:
SP6: - - - - -
SP7:
SP8: - - -
SP9: - - - -
SP10:
SP11: - - -
SP12: - - -
SP13: - - - -
SP14: -
SP15:
SP16:
SP17:

ExUns: 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19a · 19b · 19c ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b · 26c ^ 27a · 27b · 27c · 27d ^ 28
SP1: - - -
SP2: - - - -
SP3: - - - - - - -
SP4: - - - -
SP5: - - - - -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16: -
SP17:

Relevant External Links for PPP6R3 Gene

GeneLoc Exon Structure for
PPP6R3
ECgene alternative splicing isoforms for
PPP6R3

Expression for PPP6R3 Gene

mRNA expression in normal human tissues for PPP6R3 Gene

Protein differential expression in normal tissues from HIPED for PPP6R3 Gene

This gene is overexpressed in Bone (31.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PPP6R3 Gene



SOURCE GeneReport for Unigene cluster for PPP6R3 Gene Hs.503022

mRNA Expression by UniProt/SwissProt for PPP6R3 Gene

Q5H9R7-PP6R3_HUMAN
Tissue specificity: Expressed in skeletal muscle, placenta, heart, pancreas, testis, brain, lung, liver, kidney, spleen, thymus, prostate, small intestine, colon and leukocytes.
genes like me logo Genes that share expression patterns with PPP6R3: view

Protein tissue co-expression partners for PPP6R3 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for PPP6R3 Gene

Orthologs for PPP6R3 Gene

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

Orthologs for PPP6R3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PPP6R3 35
  • 91.81 (n)
  • 95.96 (a)
SAPS3 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PPP6R3 35
  • 92.77 (n)
  • 96.19 (a)
PPP6R3 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ppp6r3 35
  • 90.5 (n)
  • 96.31 (a)
Ppp6r3 16
Ppp6r3 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PPP6R3 35
  • 99.62 (n)
  • 99.77 (a)
PPP6R3 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ppp6r3 35
  • 90.62 (n)
  • 95.5 (a)
oppossum
(Monodelphis domestica)
Mammalia PPP6R3 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 72 (a)
OneToMany
-- 36
  • 71 (a)
OneToMany
-- 36
  • 73 (a)
OneToMany
chicken
(Gallus gallus)
Aves PPP6R3 35
  • 82.76 (n)
  • 91.45 (a)
PPP6R3 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PPP6R3 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppp6r3 35
  • 75.56 (n)
  • 80.26 (a)
zebrafish
(Danio rerio)
Actinopterygii ppp6r3 35
  • 71.81 (n)
  • 78.99 (a)
wufc31g07 35
ppp6r3 36
  • 64 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG10289 36
  • 14 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea saps-1 36
  • 16 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SAP155 36
  • 10 (a)
ManyToMany
SAP185 36
  • 11 (a)
ManyToMany
SAP190 36
  • 11 (a)
ManyToMany
SAP4 36
  • 11 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8358 36
  • 49 (a)
OneToMany
Species with no ortholog for PPP6R3:
  • 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)
  • 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)
  • 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)

Evolution for PPP6R3 Gene

ENSEMBL:
Gene Tree for PPP6R3 (if available)
TreeFam:
Gene Tree for PPP6R3 (if available)

Paralogs for PPP6R3 Gene

Paralogs for PPP6R3 Gene

Pseudogenes.org Pseudogenes for PPP6R3 Gene

genes like me logo Genes that share paralogs with PPP6R3: view

Variants for PPP6R3 Gene

Sequence variations from dbSNP and Humsavar for PPP6R3 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs11375771 -- 68,556,549(+) AAAAA(-/A)CGAAA intron-variant, upstream-variant-2KB
rs11369178 -- 68,494,103(+) AAAAA(-/A)GAATA intron-variant
rs11369177 -- 68,494,132(+) AAAAG(-/T)ATAAT intron-variant
rs11353865 -- 68,576,627(+) ACACA(-/T)TTAAG intron-variant
rs11344213 -- 68,606,496(+) TTTTT(-/T)GTAGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PPP6R3 Gene

Variant ID Type Subtype PubMed ID
nsv897857 CNV Loss 21882294
esv2656496 CNV Deletion 23128226
dgv1209n71 CNV Loss 21882294
dgv1210n71 CNV Loss 21882294
nsv509420 CNV Insertion 20534489
nsv468618 CNV Loss 19166990
nsv897863 CNV Loss 21882294
esv29352 CNV Loss 19812545
esv2744662 CNV Deletion 23290073
nsv832195 CNV Loss 17160897
esv2656937 CNV Deletion 23128226
nsv372 CNV Loss 18451855
nsv510259 CNV Loss 20534489
nsv509421 CNV Insertion 20534489
nsv897864 CNV Loss 21882294

Variation tolerance for PPP6R3 Gene

Residual Variation Intolerance Score: 6.96% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.12; 51.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PPP6R3 Gene

HapMap Linkage Disequilibrium report
PPP6R3
Human Gene Mutation Database (HGMD)
PPP6R3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPP6R3 Gene

Disorders for PPP6R3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PPP6R3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
decubitus ulcer
  • decubitus ulcer, lower back
- elite association

Relevant External Links for PPP6R3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PPP6R3
genes like me logo Genes that share disorders with PPP6R3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PPP6R3 Gene

Publications for PPP6R3 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 67
  2. The sequence and gene characterization of a 400-kb candidate region for IDDM4 on chromosome 11q13. (PMID: 11401438) Twells R.C.J. … Hess J.F. (Genomics 2001) 2 67
  3. Control of a neuronal morphology program by an RNA-binding zinc finger protein, Unkempt. (PMID: 25737280) Murn J. … Shi Y. (Genes Dev. 2015) 67
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  5. 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) 67

Products for PPP6R3 Gene

Sources for PPP6R3 Gene

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