Human Gene PPP1R8 (ENST00000311772.10_4) from GENCODE V47lift37
  Description: protein phosphatase 1 regulatory subunit 8, transcript variant 1 (from RefSeq NM_014110.5)
Gencode Transcript: ENST00000311772.10_4
Gencode Gene: ENSG00000117751.18_8
Transcript (Including UTRs)
   Position: hg19 chr1:28,157,293-28,178,187 Size: 20,895 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr1:28,157,347-28,176,957 Size: 19,611 Coding Exon Count: 7 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:28,157,293-28,178,187)mRNA (may differ from genome)Protein (351 aa)
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BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PP1R8_HUMAN
DESCRIPTION: RecName: Full=Nuclear inhibitor of protein phosphatase 1; Short=NIPP-1; AltName: Full=Protein phosphatase 1 regulatory inhibitor subunit 8; Includes: RecName: Full=Activator of RNA decay; EC=3.1.4.-; AltName: Full=ARD-1;
FUNCTION: Inhibitor subunit of the major nuclear protein phosphatase-1 (PP-1). It has RNA-binding activity but does not cleave RNA and may target PP-1 to RNA-associated substrates. May also be involved in pre-mRNA splicing. Binds DNA and might act as a transcriptional repressor. Seems to be required for cell proliferation.
FUNCTION: Isoform Gamma is a site-specific single-strand endoribonuclease that cleaves single strand RNA 3' to purines and pyrimidines in A+U-rich regions. It generates 5'-phosphate termini at the site of cleavage. This isoform does not inhibit PP-1. May be implicated in mRNA splicing.
COFACTOR: Magnesium. Endoribonuclease function is magnesium- dependent.
SUBUNIT: Interacts with phosphorylated CDC5L, SF3B1 and MELK. Interacts with EED, in a nucleic acid-stimulated manner. Part of a complex consisting of PPP1R8, EED, HDAC2 and PP-1. Part of the spliceosome. Interacts with PPP1CA, PPP1CB and PPP1CC.
SUBCELLULAR LOCATION: Nucleus. Nucleus speckle. Note=Primarily, but not exclusively, nuclear.
SUBCELLULAR LOCATION: Isoform Gamma: Cytoplasm. Note=Found mainly in the cytoplasm.
TISSUE SPECIFICITY: Ubiquitously expressed, with highest levels in heart and skeletal muscle, followed by brain, placenta, lung, liver and pancreas. Less abundant in kidney. The concentration and ratio between isoforms is cell-type dependent. Isoform Alpha (>90%) and isoform Beta were found in brain, heart and kidney. Isoform Gamma is mainly found in B-cells and T-lymphocytes, and has been found in 293 embryonic kidney cells.
DOMAIN: Has a basic N- and C-terminal and an acidic central domain.
DOMAIN: The FHA domain mediates interactions with threonine- phosphorylated MELK (By similarity).
PTM: May be inactivated by phosphorylation on Ser-199 or Ser-204 (By similarity). Phosphorylated by Lyn in vitro on Tyr-264, and also on Tyr-335 in the presence of RNA.
MISCELLANEOUS: A synthetic peptide, NIPP-1(330-351), is able to inhibit PP-1. Phosphorylation of Tyr-335 reduces PP-1 inhibition, whereas phosphorylation of Thr-346 or Ser-348 has no effect.
SIMILARITY: Contains 1 FHA domain.

-  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


-  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: 19.20 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 414.00 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 -25.1054-0.465 Picture PostScript Text
3' UTR -339.901230-0.276 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
IPR000253 - FHA_dom
IPR008984 - SMAD_FHA_domain

Pfam Domains:
PF00498 - FHA domain

SCOP Domains:
49879 - SMAD/FHA domain

ModBase Predicted Comparative 3D Structure on Q12972
FrontTopSide
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 orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
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 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0003723 RNA binding
GO:0003729 mRNA binding
GO:0004518 nuclease activity
GO:0004519 endonuclease activity
GO:0004864 protein phosphatase inhibitor activity
GO:0004865 protein serine/threonine phosphatase inhibitor activity
GO:0005515 protein binding
GO:0008995 ribonuclease E activity
GO:0016787 hydrolase activity
GO:0019888 protein phosphatase regulator activity

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006397 mRNA processing
GO:0006401 RNA catabolic process
GO:0008283 cell proliferation
GO:0008380 RNA splicing
GO:0032515 negative regulation of phosphoprotein phosphatase activity
GO:0035308 negative regulation of protein dephosphorylation
GO:0043666 regulation of phosphoprotein phosphatase activity
GO:0090305 nucleic acid phosphodiester bond hydrolysis
GO:0090501 RNA phosphodiester bond hydrolysis

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005681 spliceosomal complex
GO:0005737 cytoplasm
GO:0016607 nuclear speck


-  Descriptions from all associated GenBank mRNAs
  KJ891867 - Synthetic construct Homo sapiens clone ccsbBroadEn_01261 PPP1R8 gene, encodes complete protein.
AF061958 - Homo sapiens nuclear inhibitor of protein phosphatase-1 alpha (PPP1R8) mRNA, complete cds.
AK292077 - Homo sapiens cDNA FLJ77357 complete cds, highly similar to Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 8 (PPP1R8), transcript variant 1, mRNA.
AK304619 - Homo sapiens cDNA FLJ61568 complete cds, highly similar to Nuclear inhibitor of protein phosphatase 1.
AK297771 - Homo sapiens cDNA FLJ60722 complete cds, highly similar to Nuclear inhibitor of protein phosphatase 1.
AK307570 - Homo sapiens cDNA, FLJ97518.
BC093017 - Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 8, mRNA (cDNA clone MGC:110892 IMAGE:30531222), complete cds.
AX775985 - Sequence 255 from Patent WO03048202.
AF126488 - Homo sapiens nuclear inhibitor of phosphatase-1 (NIPP-1) mRNA, complete cds.
AK313814 - Homo sapiens cDNA, FLJ94432, Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit8 (PPP1R8), transcript variant 3, mRNA.
AB464098 - Synthetic construct DNA, clone: pF1KB6458, Homo sapiens PPP1R8 gene for protein phosphatase 1, regulatory (inhibitor) subunit 8, without stop codon, in Flexi system.
U14575 - Human (ard-1) mRNA, complete cds.
JD394488 - Sequence 375512 from Patent EP1572962.
AF061959 - Homo sapiens nuclear inhibitor of protein phosphatase-1 beta (PPP1R8) mRNA, complete cds.
BC013360 - Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 8, mRNA (cDNA clone MGC:15253 IMAGE:3633676), complete cds.
BC001597 - Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 8, mRNA (cDNA clone IMAGE:3542172), partial cds.
JD356878 - Sequence 337902 from Patent EP1572962.
JD155404 - Sequence 136428 from Patent EP1572962.
JD265587 - Sequence 246611 from Patent EP1572962.
JD436953 - Sequence 417977 from Patent EP1572962.
JD494851 - Sequence 475875 from Patent EP1572962.
JD440467 - Sequence 421491 from Patent EP1572962.
JD062358 - Sequence 43382 from Patent EP1572962.
HQ448661 - Synthetic construct Homo sapiens clone IMAGE:100072102; CCSB006578_02 protein phosphatase 1, regulatory (inhibitor) subunit 8 (PPP1R8) gene, encodes complete protein.
DQ223931 - Homo sapiens protein phosphatase 1 regulatory subunit 8 testis splice variant (PPP1R8) mRNA, partial cds, alternatively spliced.
JD157704 - Sequence 138728 from Patent EP1572962.
CR450309 - Homo sapiens full open reading frame cDNA clone RZPDo834E081D for gene PPP1R8, protein phosphatase 1, regulatory (inhibitor) subunit 8; complete cds; without stopcodon.
DQ578806 - Homo sapiens piRNA piR-46918, complete sequence.
JD114826 - Sequence 95850 from Patent EP1572962.
JD276883 - Sequence 257907 from Patent EP1572962.
JD214793 - Sequence 195817 from Patent EP1572962.
JD143668 - Sequence 124692 from Patent EP1572962.
JD287634 - Sequence 268658 from Patent EP1572962.
JD330536 - Sequence 311560 from Patent EP1572962.
BC003405 - Homo sapiens, clone IMAGE:3450003, mRNA.
JD154424 - Sequence 135448 from Patent EP1572962.
JD151556 - Sequence 132580 from Patent EP1572962.
JD219538 - Sequence 200562 from Patent EP1572962.
JD385618 - Sequence 366642 from Patent EP1572962.
JD197330 - Sequence 178354 from Patent EP1572962.
JD402528 - Sequence 383552 from Patent EP1572962.
JD262340 - Sequence 243364 from Patent EP1572962.
JD563005 - Sequence 544029 from Patent EP1572962.
JD246029 - Sequence 227053 from Patent EP1572962.
JD232675 - Sequence 213699 from Patent EP1572962.
JD410642 - Sequence 391666 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ARD1, ENST00000311772.1, ENST00000311772.2, ENST00000311772.3, ENST00000311772.4, ENST00000311772.5, ENST00000311772.6, ENST00000311772.7, ENST00000311772.8, ENST00000311772.9, NIPP1, NM_014110, PP1R8_HUMAN, Q12972, Q5TEJ2, Q5TEJ4, Q5TIF2, Q6PKF6, Q9UBH1, Q9UBZ0, uc317pbo.1, uc317pbo.2
UCSC ID: ENST00000311772.10_4
RefSeq Accession: NM_014110.5
Protein: Q12972 (aka PP1R8_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.