Human Gene PPP6R3 (ENST00000393800.7_9) from GENCODE V47lift37
  Description: protein phosphatase 6 regulatory subunit 3, transcript variant 47 (from RefSeq NR_147971.2)
Gencode Transcript: ENST00000393800.7_9
Gencode Gene: ENSG00000110075.15_17
Transcript (Including UTRs)
   Position: hg19 chr11:68,228,220-68,382,802 Size: 154,583 Total Exon Count: 24 Strand: +
Coding Region
   Position: hg19 chr11:68,305,133-68,380,585 Size: 75,453 Coding Exon Count: 22 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:68,228,220-68,382,802)mRNA (may differ from genome)Protein (873 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PP6R3_HUMAN
DESCRIPTION: RecName: Full=Serine/threonine-protein phosphatase 6 regulatory subunit 3; AltName: Full=SAPS domain family member 3; AltName: Full=Sporulation-induced transcript 4-associated protein SAPL;
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.
SUBUNIT: 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.
INTERACTION: O15084:ANKRD28; NbExp=3; IntAct=EBI-355498, EBI-359567; O00743:PPP6C; NbExp=2; IntAct=EBI-355498, EBI-359751;
SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
TISSUE SPECIFICITY: Expressed in skeletal muscle, placenta, heart, pancreas, testis, brain, lung, liver, kidney, spleen, thymus, prostate, small intestine, colon and leukocytes.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
SIMILARITY: Belongs to the SAPS family.
SEQUENCE CAUTION: Sequence=AAZ99639.2; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAA91978.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB13384.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAB71396.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PPP6R3
Diseases sorted by gene-association score: fasciitis (9), diabetes mellitus, insulin-dependent, 4 (8), pseudosarcomatous fibromatosis (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 19.39 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 467.32 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -74.50233-0.320 Picture PostScript Text
3' UTR -618.202217-0.279 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007587 - SAPS

Pfam Domains:
PF04499 - SIT4 phosphatase-associated protein

SCOP Domains:
48371 - ARM repeat

ModBase Predicted Comparative 3D Structure on Q5H9R7
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0019903 protein phosphatase binding

Biological Process:
GO:0043666 regulation of phosphoprotein phosphatase activity
GO:0048208 COPII vesicle coating

Cellular Component:
GO:0000139 Golgi membrane
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane


-  Descriptions from all associated GenBank mRNAs
  BC070121 - Homo sapiens cDNA clone IMAGE:4771069, containing frame-shift errors.
AK298180 - Homo sapiens cDNA FLJ59366 complete cds, highly similar to SAPS domain family member 3.
AK303315 - Homo sapiens cDNA FLJ59647 complete cds, highly similar to SAPS domain family member 3.
AK315136 - Homo sapiens cDNA, FLJ96102.
CR936718 - Homo sapiens mRNA; cDNA DKFZp781O2362 (from clone DKFZp781O2362).
CR749815 - Homo sapiens mRNA; cDNA DKFZp781E17107 (from clone DKFZp781E17107).
CR933658 - Homo sapiens mRNA; cDNA DKFZp781E2374 (from clone DKFZp781E2374).
AB046778 - Homo sapiens KIAA1558 mRNA for KIAA1558 protein.
AF264779 - Homo sapiens sporulation-induced transcript 4-associated protein SAPLa (C11orf23) mRNA, complete cds, alternatively spliced.
AF264780 - Homo sapiens sporulation-induced transcript 4-associated protein SAPLb (C11orf23) mRNA, complete cds, alternatively spliced.
BC105934 - Homo sapiens SAPS domain family, member 3, mRNA (cDNA clone MGC:125711 IMAGE:40029058), complete cds.
BC105933 - Homo sapiens SAPS domain family, member 3, mRNA (cDNA clone MGC:125712 IMAGE:40029064), complete cds.
BC107599 - Homo sapiens SAPS domain family, member 3, mRNA (cDNA clone MGC:125713 IMAGE:40029065), complete cds.
LF211126 - JP 2014500723-A/18629: Polycomb-Associated Non-Coding RNAs.
MA446703 - JP 2018138019-A/18629: Polycomb-Associated Non-Coding RNAs.
AB385481 - Synthetic construct DNA, clone: pF1KA1558, Homo sapiens SAPS3 gene for SAPS domain family member 3, complete cds, without stop codon, in Flexi system.
DQ111954 - Homo sapiens protein phosphatase 6 regulatory subunit 3 (PP6R3) mRNA, partial cds.
AK057250 - Homo sapiens cDNA FLJ32688 fis, clone TESTI2000184, weakly similar to SIT4-ASSOCIATING PROTEIN SAP185.
AK302611 - Homo sapiens cDNA FLJ53373 complete cds, highly similar to SAPS domain family member 3.
AK300359 - Homo sapiens cDNA FLJ53458 complete cds, highly similar to SAPS domain family member 3.
BC020953 - Homo sapiens SAPS domain family, member 3, mRNA (cDNA clone IMAGE:3913160), partial cds.
AK125055 - Homo sapiens cDNA FLJ43065 fis, clone BRTHA3008520, highly similar to Homo sapiens sporulation-induced transcript 4-associated protein SAPLa.
AK023950 - Homo sapiens cDNA FLJ13888 fis, clone THYRO1001584.
AL834471 - Homo sapiens mRNA; cDNA DKFZp762O0710 (from clone DKFZp762O0710).
BC007738 - Homo sapiens SAPS domain family, member 3, mRNA (cDNA clone IMAGE:4122190), partial cds.
CU676780 - Synthetic construct Homo sapiens gateway clone IMAGE:100018546 5' read SAPS3 mRNA.
KJ906226 - Synthetic construct Homo sapiens clone ccsbBroadEn_15896 PPP6R3 gene, encodes complete protein.
AK001920 - Homo sapiens cDNA FLJ11058 fis, clone PLACE1004736.
AL389982 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 2004442.
JD173714 - Sequence 154738 from Patent EP1572962.
JD405081 - Sequence 386105 from Patent EP1572962.
JD546645 - Sequence 527669 from Patent EP1572962.
JD419231 - Sequence 400255 from Patent EP1572962.
JD349547 - Sequence 330571 from Patent EP1572962.
JD552609 - Sequence 533633 from Patent EP1572962.
JD490707 - Sequence 471731 from Patent EP1572962.
JD235658 - Sequence 216682 from Patent EP1572962.
JD298124 - Sequence 279148 from Patent EP1572962.
JD562756 - Sequence 543780 from Patent EP1572962.
JD196638 - Sequence 177662 from Patent EP1572962.
JD078143 - Sequence 59167 from Patent EP1572962.
JD245503 - Sequence 226527 from Patent EP1572962.
JD383005 - Sequence 364029 from Patent EP1572962.
JD147460 - Sequence 128484 from Patent EP1572962.
JD174788 - Sequence 155812 from Patent EP1572962.
JD539320 - Sequence 520344 from Patent EP1572962.
JD221655 - Sequence 202679 from Patent EP1572962.
JD082072 - Sequence 63096 from Patent EP1572962.
JD276503 - Sequence 257527 from Patent EP1572962.
JD045797 - Sequence 26821 from Patent EP1572962.
JD257425 - Sequence 238449 from Patent EP1572962.
JD484047 - Sequence 465071 from Patent EP1572962.
JD339064 - Sequence 320088 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q5H9R7 (Reactome details) participates in the following event(s):

R-HSA-5694421 PP6 dephosphorylates SEC24
R-HSA-204005 COPII-mediated vesicle transport
R-HSA-199977 ER to Golgi Anterograde Transport
R-HSA-199991 Membrane Trafficking
R-HSA-948021 Transport to the Golgi and subsequent modification
R-HSA-5653656 Vesicle-mediated transport
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: C11orf23, ENST00000393800.1, ENST00000393800.2, ENST00000393800.3, ENST00000393800.4, ENST00000393800.5, ENST00000393800.6, KIAA1558, NR_147971, PP6R3, PP6R3_HUMAN, Q3B7I1, Q3I4Y0, Q3KR35, Q5H9R7, Q68CR3, Q7L4R8, Q8N3B2, Q96MB2, Q9H2K5, Q9H2K6, Q9HCL4, Q9NUY3, SAPL, SAPS3, uc318wdl.1, uc318wdl.2
UCSC ID: ENST00000393800.7_9
RefSeq Accession: NM_001164161.2
Protein: Q5H9R7 (aka PP6R3_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.