Human Gene PPP1R10 (uc003nqn.2) Description and Page Index
  Description: Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), transcript variant 1, mRNA.
RefSeq Summary (NM_002714): This gene encodes a protein phosphatase 1 binding protein. The encoded protein plays a role in many cellular processes including cell cycle progression, DNA repair and apoptosis by regulating the activity of protein phosphatase 1. This gene lies within the major histocompatibility complex class I region on chromosome 6, and alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012].
Transcript (Including UTRs)
   Position: hg19 chr6:30,568,177-30,585,084 Size: 16,908 Total Exon Count: 20 Strand: -
Coding Region
   Position: hg19 chr6:30,569,326-30,577,721 Size: 8,396 Coding Exon Count: 18 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:30,568,177-30,585,084)mRNA (may differ from genome)Protein (940 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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OMIMPubMedStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: PP1RA_HUMAN
DESCRIPTION: RecName: Full=Serine/threonine-protein phosphatase 1 regulatory subunit 10; AltName: Full=MHC class I region proline-rich protein CAT53; AltName: Full=PP1-binding protein of 114 kDa; AltName: Full=Phosphatase 1 nuclear targeting subunit; AltName: Full=Protein FB19; AltName: Full=p99;
FUNCTION: Scaffold protein which mediates the formation of the PTW/PP1 phosphatase complex by providing a binding platform to each component of the complex. The PTW/PP1 phosphatase complex plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase. Mediates interaction of WDR82 and PPP1CA. Inhibitor of PPP1CA and PPP1CC phosphatase activities. Has inhibitory activity on PPP1CA only when phosphorylated. Binds to mRNA, single-stranded DNA (ssDNA), poly(A) and poly(G) homopolymers (By similarity).
SUBUNIT: Component of the PTW/PP1 phosphatase complex, composed of PPP1R10/PNUTS, TOX4, WDR82, and PPP1CA or PPP1CB or PPP1CC. Interacts with PPP1CC. Interacts with PPP1CA, WDR82 and TOX4 (By similarity).
SUBCELLULAR LOCATION: Nucleus. Note=Found in discrete nucleoplasmic bodies and within nucleoli. Associates with chromatin during interphase, excluded from condensed chromosomes during early mitosis and is reloaded onto chromosomes at the late telophase (By similarity).
TISSUE SPECIFICITY: Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
PTM: Phosphorylated on Ser-398 and Thr-400 by PKA within the region necessary for interaction with PPP1CA (By similarity).
SIMILARITY: Contains 1 C3H1-type zinc finger.
SIMILARITY: Contains 1 TFIIS N-terminal domain.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PPP1R10
CDC HuGE Published Literature: PPP1R10
Positive Disease Associations: Behcet Syndrome
Related Studies:
  1. Behcet Syndrome
    Elaine F Remmers et al. Nature genetics 2010, , Nature genetics. [PubMed 20622878]
  2. Behcet Syndrome
    Elaine F Remmers et al. Nature genetics 2010, , Nature genetics. [PubMed 20622878]

-  MalaCards Disease Associations
  MalaCards Gene Search: PPP1R10
Diseases sorted by gene-association score: malignant melanoma, somatic (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 26.23 RPKM in Pituitary
Total median expression: 794.09 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 -190.91616-0.310 Picture PostScript Text
3' UTR -402.221149-0.350 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
IPR003617 - TFIIS/CRSP70_N_sub
IPR017923 - TFIIS_N
IPR000571 - Znf_CCCH

Pfam Domains:
PF00642 - Zinc finger C-x8-C-x5-C-x3-H type (and similar)
PF08711 - TFIIS helical bundle-like domain

SCOP Domains:
47676 - Conserved domain common to transcription factors TFIIS, elongin A, CRSP70
90229 - CCCH zinc finger

ModBase Predicted Comparative 3D Structure on Q96QC0
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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
 Gene Details    
 Gene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0003723 RNA binding
GO:0004864 protein phosphatase inhibitor activity
GO:0005515 protein binding
GO:0046872 metal ion binding

Biological Process:
GO:0006606 protein import into nucleus
GO:0010667 negative regulation of cardiac muscle cell apoptotic process
GO:0032206 positive regulation of telomere maintenance
GO:0032515 negative regulation of phosphoprotein phosphatase activity
GO:1904290 negative regulation of mitotic DNA damage checkpoint

Cellular Component:
GO:0000785 chromatin
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0016604 nuclear body
GO:0072357 PTW/PP1 phosphatase complex
GO:0000784 nuclear chromosome, telomeric region


-  Descriptions from all associated GenBank mRNAs
  Y13247 - Homo sapiens fb19 mRNA.
AJ544537 - Homo sapiens mRNA for protein phospahatase nuclear targeting subunit (CAT53 gene).
HM005690 - Homo sapiens clone HTL-T-67n testis tissue sperm-binding protein Li 67n mRNA, complete cds.
JD488526 - Sequence 469550 from Patent EP1572962.
JD281847 - Sequence 262871 from Patent EP1572962.
JD047792 - Sequence 28816 from Patent EP1572962.
JD095007 - Sequence 76031 from Patent EP1572962.
JD519719 - Sequence 500743 from Patent EP1572962.
JD247349 - Sequence 228373 from Patent EP1572962.
JD216681 - Sequence 197705 from Patent EP1572962.
JD080861 - Sequence 61885 from Patent EP1572962.
BC150310 - Homo sapiens cDNA clone IMAGE:8860444.
JD056429 - Sequence 37453 from Patent EP1572962.
BC136294 - Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 10, mRNA (cDNA clone MGC:167904 IMAGE:9020281), complete cds.
JD052309 - Sequence 33333 from Patent EP1572962.
JD363756 - Sequence 344780 from Patent EP1572962.
JD252937 - Sequence 233961 from Patent EP1572962.
JD487537 - Sequence 468561 from Patent EP1572962.
JD092384 - Sequence 73408 from Patent EP1572962.
JD247914 - Sequence 228938 from Patent EP1572962.
JD149748 - Sequence 130772 from Patent EP1572962.
JD080462 - Sequence 61486 from Patent EP1572962.
JD518779 - Sequence 499803 from Patent EP1572962.
JD140699 - Sequence 121723 from Patent EP1572962.
JD041634 - Sequence 22658 from Patent EP1572962.
JD097090 - Sequence 78114 from Patent EP1572962.
JD537049 - Sequence 518073 from Patent EP1572962.
JD157617 - Sequence 138641 from Patent EP1572962.
BC005267 - Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 10, mRNA (cDNA clone IMAGE:3683864), partial cds.
AK307406 - Homo sapiens cDNA, FLJ97354.
JD237911 - Sequence 218935 from Patent EP1572962.
JD095004 - Sequence 76028 from Patent EP1572962.
JD273702 - Sequence 254726 from Patent EP1572962.
JD131120 - Sequence 112144 from Patent EP1572962.
JD456409 - Sequence 437433 from Patent EP1572962.
JD068289 - Sequence 49313 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: CAT53, FB19, NM_002714, NP_002705, O00405, PNUTS, PP1RA_HUMAN, Q96QC0, uc003nqn.1
UCSC ID: uc003nqn.2
RefSeq Accession: NM_002714
Protein: Q96QC0 (aka PP1RA_HUMAN)
CCDS: CCDS4681.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_002714.3
exon count: 20CDS single in 3' UTR: no RNA size: 4604
ORF size: 2823CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 5429.00frame shift in genome: no % Coverage: 99.65
has start codon: yes stop codon in genome: no # of Alignments: 7
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.