Human Gene PPP6R1 (ENST00000412770.7_8) from GENCODE V47lift37
  Description: protein phosphatase 6 regulatory subunit 1 (from RefSeq NM_014931.4)
Gencode Transcript: ENST00000412770.7_8
Gencode Gene: ENSG00000105063.19_13
Transcript (Including UTRs)
   Position: hg19 chr19:55,741,147-55,770,385 Size: 29,239 Total Exon Count: 24 Strand: -
Coding Region
   Position: hg19 chr19:55,741,896-55,758,471 Size: 16,576 Coding Exon Count: 23 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:55,741,147-55,770,385)mRNA (may differ from genome)Protein (881 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIOMIMPubMedReactomeUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PP6R1_HUMAN
DESCRIPTION: RecName: Full=Serine/threonine-protein phosphatase 6 regulatory subunit 1; AltName: Full=SAPS domain family member 1;
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.
SUBUNIT: 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.
INTERACTION: O15084:ANKRD28; NbExp=4; IntAct=EBI-359745, EBI-359567; O00743:PPP6C; NbExp=5; IntAct=EBI-359745, EBI-359751;
SUBCELLULAR LOCATION: Cytoplasm.
TISSUE SPECIFICITY: Ubiquitous with higher expression in testis.
SIMILARITY: Belongs to the SAPS family.
SEQUENCE CAUTION: Sequence=BAA83067.3; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  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.
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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


-  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: 104.78 RPKM in Testis
Total median expression: 1243.02 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -320.50589-0.544 Picture PostScript Text
3' UTR -302.50749-0.404 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
48295 - TrpR-like

ModBase Predicted Comparative 3D Structure on Q9UPN7
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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    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0017048 Rho GTPase 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:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  BC007629 - Homo sapiens SAPS domain family, member 1, mRNA (cDNA clone IMAGE:3505029), partial cds.
BC002799 - Homo sapiens SAPS domain family, member 1, mRNA (cDNA clone IMAGE:3634673), partial cds.
BC068014 - Homo sapiens SAPS domain family, member 1, mRNA (cDNA clone IMAGE:6163252), partial cds.
BC094753 - Homo sapiens SAPS domain family, member 1, mRNA (cDNA clone MGC:104616 IMAGE:4838365), complete cds.
AK126810 - Homo sapiens cDNA FLJ44860 fis, clone BRALZ2007661.
AB029038 - Homo sapiens KIAA1115 mRNA for KIAA1115 protein.
JD397434 - Sequence 378458 from Patent EP1572962.
JD398425 - Sequence 379449 from Patent EP1572962.
JD519426 - Sequence 500450 from Patent EP1572962.
JD416626 - Sequence 397650 from Patent EP1572962.
JD078634 - Sequence 59658 from Patent EP1572962.
JD488287 - Sequence 469311 from Patent EP1572962.
JD403002 - Sequence 384026 from Patent EP1572962.
JD384320 - Sequence 365344 from Patent EP1572962.
JD134652 - Sequence 115676 from Patent EP1572962.
JD329440 - Sequence 310464 from Patent EP1572962.
JD551960 - Sequence 532984 from Patent EP1572962.
AK297152 - Homo sapiens cDNA FLJ56462 complete cds, highly similar to SAPS domain family member 1.
JD339611 - Sequence 320635 from Patent EP1572962.
JD509508 - Sequence 490532 from Patent EP1572962.
JD349829 - Sequence 330853 from Patent EP1572962.
JD123828 - Sequence 104852 from Patent EP1572962.
JD539815 - Sequence 520839 from Patent EP1572962.
JD365624 - Sequence 346648 from Patent EP1572962.
JD051023 - Sequence 32047 from Patent EP1572962.
JD449797 - Sequence 430821 from Patent EP1572962.
JD253988 - Sequence 235012 from Patent EP1572962.
BC111980 - Homo sapiens SAPS domain family, member 1, mRNA (cDNA clone IMAGE:8327448), with apparent retained intron.
BC113443 - Homo sapiens SAPS domain family, member 1, mRNA (cDNA clone IMAGE:8322495), with apparent retained intron.
AB385428 - Synthetic construct DNA, clone: pF1KA1115, Homo sapiens SAPS1 gene for SAPS domain family member 1, complete cds, without stop codon, in Flexi system.
DQ578756 - Homo sapiens piRNA piR-46868, complete sequence.
JD275951 - Sequence 256975 from Patent EP1572962.
JD246209 - Sequence 227233 from Patent EP1572962.
JD131269 - Sequence 112293 from Patent EP1572962.
JD156075 - Sequence 137099 from Patent EP1572962.
JD233190 - Sequence 214214 from Patent EP1572962.
JD347572 - Sequence 328596 from Patent EP1572962.
JD201610 - Sequence 182634 from Patent EP1572962.

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

Protein Q9UPN7 (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: ENST00000412770.1, ENST00000412770.2, ENST00000412770.3, ENST00000412770.4, ENST00000412770.5, ENST00000412770.6, KIAA1115, NM_014931, PP6R1, PP6R1_HUMAN, Q2M2H3, Q504V2, Q6NVJ6, Q9BU97, Q9UPN7, SAPS1, uc319itg.1, uc319itg.2
UCSC ID: ENST00000412770.7_8
RefSeq Accession: NM_014931.4
Protein: Q9UPN7 (aka PP6R1_HUMAN)

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

-  Methods, Credits, and Use Restrictions
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