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Aliases for PPP6R3 Gene

Aliases for PPP6R3 Gene

  • Protein Phosphatase 6 Regulatory Subunit 3 2 3 5
  • 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
  • Serine/Threonine-Protein Phosphatase 6 Regulatory Subunit 3 3
  • Sporulation-Induced Transcript 4-Associated Protein 2
  • Protein Phosphatase 6, Regulatory Subunit 3 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 Diabetes Mellitus, Insulin-Dependent, 4 and Pseudosarcomatous Fibromatosis. Among its related pathways are Vesicle-mediated transport and Transport to the Golgi and subsequent modification. 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 CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPP6R3 Gene

Genomics for PPP6R3 Gene

Regulatory Elements for PPP6R3 Gene

Enhancers for PPP6R3 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
GH11G068549 1.1 Ensembl ENCODE 26.5 +89.7 89700 1.5 ELF3 FOXA2 NFIB ARID4B THRB RAD21 YY1 RARA CREM SP5 PPP6R3 TESMIN GC11P068559 NDUFA3P2
GH11G068541 1.1 Ensembl ENCODE 26.5 +82.1 82068 2.3 FOXA2 SIN3A ARID4B FEZF1 DNMT3B ZNF48 ZNF335 ZNF121 FOS CREM PPP6R3 GC11P068559 NDUFA3P2
GH11G068410 1.2 ENCODE dbSUPER 20.2 -47.8 -47769 4.5 HDGF PKNOX1 WRNIP1 SCRT2 ZNF143 RELB IKZF2 CREM CBFB CEBPB PPP6R3 GAL GC11P068382 GC11M068452
GH11G068502 1.5 FANTOM5 Ensembl ENCODE 15 +42.6 42645 1.8 HDGF ATF1 FOXA2 PKNOX1 CREB3L1 SIN3A ARID4B DMAP1 FEZF1 YY1 PPP6R3 MRGPRD NDUFA3P2 GC11P068559
GH11G068471 1.3 FANTOM5 Ensembl ENCODE 16.4 +11.4 11402 1.9 HDGF PKNOX1 ZNF146 WRNIP1 MAX POLR2A EGR1 RELB IKZF2 EGR2 PPP6R3 TCIRG1 CHKA KMT5B IGHMBP2 GC11P068486
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PPP6R3 on UCSC Golden Path with GeneCards custom track

Promoters for PPP6R3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000041238 382 2601 HDGF HNRNPUL1 PKNOX1 ARNT WRNIP1 ARID4B SIN3A ZNF2 ZBTB7B YY1

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

Genes around PPP6R3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPP6R3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPP6R3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for PPP6R3 Gene

  • Ubiquitination at Lys190, posLast=430430, and Lys509
  • 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: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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
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 PPP6R3 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for PPP6R3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS,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 IEA --
GO:0043666 regulation of phosphoprotein phosphatase activity IDA 16716191
GO:0048208 COPII vesicle coating 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

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for PPP6R3 Gene



Protein tissue co-expression partners for PPP6R3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PPP6R3 Gene:

PPP6R3

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.

Evidence on tissue expression from TISSUES for PPP6R3 Gene

  • Nervous system(4.8)
  • Liver(4.3)
  • Muscle(4.3)
  • Kidney(2.5)
genes like me logo Genes that share expression patterns with PPP6R3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia PPP6R3 34 35
  • 99.62 (n)
cow
(Bos Taurus)
Mammalia SAPS3 35
  • 96 (a)
OneToOne
PPP6R3 34
  • 91.81 (n)
dog
(Canis familiaris)
Mammalia PPP6R3 34 35
  • 92.77 (n)
rat
(Rattus norvegicus)
Mammalia Ppp6r3 34
  • 90.62 (n)
mouse
(Mus musculus)
Mammalia Ppp6r3 34 16 35
  • 90.5 (n)
oppossum
(Monodelphis domestica)
Mammalia PPP6R3 35
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 73 (a)
OneToMany
-- 35
  • 72 (a)
OneToMany
-- 35
  • 71 (a)
OneToMany
chicken
(Gallus gallus)
Aves PPP6R3 34 35
  • 82.76 (n)
lizard
(Anolis carolinensis)
Reptilia PPP6R3 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppp6r3 34
  • 75.56 (n)
zebrafish
(Danio rerio)
Actinopterygii ppp6r3 34 35
  • 71.81 (n)
wufc31g07 34
fruit fly
(Drosophila melanogaster)
Insecta CG10289 35
  • 14 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea saps-1 35
  • 16 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SAP185 35
  • 11 (a)
ManyToMany
SAP190 35
  • 11 (a)
ManyToMany
SAP4 35
  • 11 (a)
ManyToMany
SAP155 35
  • 10 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8358 35
  • 49 (a)
OneToMany
Species where no ortholog for PPP6R3 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)
  • 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
rs1000021834 -- 68,534,939(+) AGTTA(C/T)CTTTT intron-variant
rs1000077621 -- 68,550,152(+) GAACA(A/G)GATTC intron-variant
rs1000105632 -- 68,575,340(+) TTATC(C/G)TTTTC intron-variant
rs1000105721 -- 68,463,911(+) TAGAG(A/G)CCAAG intron-variant
rs1000110851 -- 68,590,570(+) TGTAA(A/C)TATCT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1985n54 CNV loss 21841781
dgv1986n54 CNV loss 21841781
esv2656496 CNV deletion 23128226
esv2656937 CNV deletion 23128226
esv2744662 CNV deletion 23290073
esv29352 CNV loss 19812545
esv3626739 CNV loss 21293372
nsv1112606 CNV deletion 24896259
nsv372 CNV deletion 18451855
nsv468618 CNV loss 19166990
nsv472773 CNV novel sequence insertion 20440878
nsv477005 CNV novel sequence insertion 20440878
nsv509420 CNV insertion 20534489
nsv509421 CNV insertion 20534489
nsv510259 OTHER sequence alteration 20534489
nsv555285 CNV loss 21841781
nsv555290 CNV gain+loss 21841781
nsv832195 CNV loss 17160897

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

Human Gene Mutation Database (HGMD)
PPP6R3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPP6R3

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

Disorders for PPP6R3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PPP6R3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
diabetes mellitus, insulin-dependent, 4
  • type 1 diabetes mellitus 4
pseudosarcomatous fibromatosis
  • fasciitis - nodular
- elite association - COSMIC cancer census association via MalaCards

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 3 4 64
  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 3 4 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. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil S.A. … Gygi S.P. (Nat. Biotechnol. 2006) 3 4 64
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64

Products for PPP6R3 Gene

Sources for PPP6R3 Gene

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