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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 Type 1 Diabetes Mellitus 4 and Fasciitis. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (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.

Additional gene information for PPP6R3 Gene

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

GeneHancer (GH) Regulatory Elements for PPP6R3 Gene

Promoters and enhancers for PPP6R3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I068459 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 628.7 +0.5 531 3.3 HDGF HNRNPUL1 FOXA2 PKNOX1 ARNT ARID4B SIN3A ZNF2 ZBTB7B YY1 PPP6R3 KMT5B TPCN2 ENSG00000260808 IGHMBP2 MRGPRF-AS1 ENSG00000261625 MRGPRF GC11P068486
GH11I068098 Enhancer 1.4 Ensembl ENCODE dbSUPER 98 -359.7 -359676 4.7 FOXA2 SMAD1 MLX ZFP64 ARID4B DMAP1 YY1 SLC30A9 ZNF213 SP5 KMT5B PPP6R3 MRGPRF-AS1 ENSG00000260808 MRGPRF ENSG00000261625 TPCN2 RAD9A KDM2A SSH3
GH11I068210 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 39.3 -247.6 -247611 4.7 HDGF ARNT ARID4B SIN3A DMAP1 IRF4 YY1 POLR2B ZNF766 ZNF213 KMT5B PPP6R3 TPCN2 ENSG00000255031 IGHMBP2 ENSG00000260808 RAD9A C11orf24 CLCF1 CORO1B
GH11I069292 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 31.9 +837.9 837889 11.6 HDGF PKNOX1 CLOCK SMAD1 ARID4B NEUROD1 SIN3A YBX1 FEZF1 ZBTB7B LOC105369370 MYEOV ORAOV1 TPCN2 PPP6R3 ENSG00000260808 FADD IGHMBP2 LRP5 ANO1
GH11I068836 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 24.5 +380.0 380026 8.1 HDGF PKNOX1 CLOCK FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 CPT1A IGHMBP2 PPP6R3 MRGPRF-AS1 KMT5B ENSG00000261625 ORAOV1 MRGPRF ENSG00000260808 TPCN2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PPP6R3 on UCSC Golden Path with GeneCards custom track

Genomic Locations for PPP6R3 Gene

Genomic Locations for PPP6R3 Gene
chr11:68,460,718-68,615,334
(GRCh38/hg38)
Size:
154,617 bases
Orientation:
Plus strand
chr11:68,228,186-68,382,802
(GRCh37/hg19)

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 isoforms=2, 3, 4, 5, 6190, isoforms=2, 3, 4, 5, 6430, and isoforms=2, 3, 4, 5, 6509

Other Protein References for PPP6R3 Gene

ENSEMBL proteins:
REFSEQ proteins:

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.

Phenotypes From GWAS Catalog for PPP6R3 Gene

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

miRNA for PPP6R3 Gene

miRTarBase miRNAs that target PPP6R3

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleoplasm (4)
  • Plasma membrane (4)
See all subcellular structures

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 IDA,TAS --
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:

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(2.6)
genes like me logo Genes that share expression patterns with PPP6R3: view

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 33 34
  • 99.62 (n)
cow
(Bos Taurus)
Mammalia SAPS3 34
  • 96 (a)
OneToOne
PPP6R3 33
  • 91.81 (n)
dog
(Canis familiaris)
Mammalia PPP6R3 33 34
  • 92.77 (n)
rat
(Rattus norvegicus)
Mammalia Ppp6r3 33
  • 90.62 (n)
mouse
(Mus musculus)
Mammalia Ppp6r3 33 16 34
  • 90.5 (n)
oppossum
(Monodelphis domestica)
Mammalia PPP6R3 34
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 73 (a)
OneToMany
-- 34
  • 72 (a)
OneToMany
-- 34
  • 71 (a)
OneToMany
chicken
(Gallus gallus)
Aves PPP6R3 33 34
  • 82.76 (n)
lizard
(Anolis carolinensis)
Reptilia PPP6R3 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppp6r3 33
  • 75.56 (n)
zebrafish
(Danio rerio)
Actinopterygii ppp6r3 33 34
  • 71.81 (n)
wufc31g07 33
fruit fly
(Drosophila melanogaster)
Insecta CG10289 34
  • 14 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea saps-1 34
  • 16 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SAP185 34
  • 11 (a)
ManyToMany
SAP190 34
  • 11 (a)
ManyToMany
SAP4 34
  • 11 (a)
ManyToMany
SAP155 34
  • 10 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8358 34
  • 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 Variation AA Info Type
rs1000021834 -- 68,534,939(+) T/C intron_variant
rs1000077621 -- 68,550,152(+) A/G intron_variant
rs1000105632 -- 68,575,340(+) C/G intron_variant
rs1000105721 -- 68,463,911(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000110851 -- 68,590,570(+) A/C genic_downstream_transcript_variant, intron_variant

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

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

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)

Additional Variant Information 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

(3) MalaCards diseases for PPP6R3 Gene - From: HGMD, DISEASES, and GeneCards

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

Additional Disease Information for 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 DL (The Journal of biological chemistry 2006) 2 3 4 58
  2. The sequence and gene characterization of a 400-kb candidate region for IDDM4 on chromosome 11q13. (PMID: 11401438) Twells RC … Hess JF (Genomics 2001) 2 3 4 58
  3. Protein phosphatase 6 regulatory subunits composed of ankyrin repeat domains. (PMID: 18186651) Stefansson B … Brautigan DL (Biochemistry 2008) 3 4 58
  4. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4 58
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58

Products for PPP6R3 Gene

Sources for PPP6R3 Gene