Human Gene PPP1R13L (ENST00000360957.10_7) from GENCODE V47lift37
  Description: protein phosphatase 1 regulatory subunit 13 like, transcript variant 2 (from RefSeq NM_006663.4)
Gencode Transcript: ENST00000360957.10_7
Gencode Gene: ENSG00000104881.16_14
Transcript (Including UTRs)
   Position: hg19 chr19:45,882,896-45,908,327 Size: 25,432 Total Exon Count: 13 Strand: -
Coding Region
   Position: hg19 chr19:45,883,448-45,901,576 Size: 18,129 Coding Exon Count: 12 

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 (chr19:45,882,896-45,908,327)mRNA (may differ from genome)Protein (828 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: IASPP_HUMAN
DESCRIPTION: RecName: Full=RelA-associated inhibitor; AltName: Full=Inhibitor of ASPP protein; Short=Protein iASPP; AltName: Full=NFkB-interacting protein 1; AltName: Full=PPP1R13B-like protein;
FUNCTION: Regulator that plays a central role in regulation of apoptosis and transcription via its interaction with NF-kappa-B and p53/TP53 proteins. Blocks transcription of HIV-1 virus by inhibiting the action of both NF-kappa-B and SP1. Also inhibits p53/TP53 function, possibly by preventing the association between p53/TP53 and ASPP1 or ASPP2, and therefore suppressing the subsequent activation of apoptosis.
SUBUNIT: Interacts with RELA NF-kappa-B subunit and with SP1 via its C-terminus part. Interacts with p53/TP53, TP63 and TP73.
INTERACTION: P04637:TP53; NbExp=3; IntAct=EBI-5550163, EBI-366083;
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Predominantly cytoplasmic but also nuclear.
TISSUE SPECIFICITY: Highly expressed in heart, placenta and prostate. Weakly expressed in brain, liver, skeletal muscle, testis and peripheral blood leukocyte.
DOMAIN: Isoform 1 N-terminal region is required for cytoplasmic localization.
SIMILARITY: Belongs to the ASPP family.
SIMILARITY: Contains 2 ANK repeats.
SIMILARITY: Contains 1 SH3 domain.
SEQUENCE CAUTION: Sequence=AAD27004.1; Type=Frameshift; Positions=439, 483, 562, 591; Sequence=AAD27005.1; Type=Frameshift; Positions=483, 562, 591; Sequence=AAD27005.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/PPP1R13LID42997ch19q13.html";

-  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: PPP1R13L
Diseases sorted by gene-association score: leopard syndrome* (233), noonan syndrome with multiple lentigines* (231)
* = Manually curated disease association

-  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: 101.41 RPKM in Skin - Sun Exposed (Lower leg)
Total median expression: 684.53 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 -37.1092-0.403 Picture PostScript Text
3' UTR -175.20552-0.317 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
IPR002110 - Ankyrin_rpt
IPR020683 - Ankyrin_rpt-contain_dom
IPR001452 - SH3_domain

Pfam Domains:
PF00018 - SH3 domain
PF00023 - Ankyrin repeat
PF07653 - Variant SH3 domain
PF12796 - Ankyrin repeats (3 copies)
PF14604 - Variant SH3 domain

SCOP Domains:
140860 - Pseudo ankyrin repeat-like
50044 - SH3-domain
48403 - Ankyrin repeat

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2VGE - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q8WUF5
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 orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003714 transcription corepressor activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0042802 identical protein binding
GO:0045296 cadherin binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0003215 cardiac right ventricle morphogenesis
GO:0003229 ventricular cardiac muscle tissue development
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006915 apoptotic process
GO:0009791 post-embryonic development
GO:0031076 embryonic camera-type eye development
GO:0035264 multicellular organism growth
GO:0042633 hair cycle
GO:0045597 positive regulation of cell differentiation
GO:0048871 multicellular organismal homeostasis
GO:0060048 cardiac muscle contraction
GO:1901796 regulation of signal transduction by p53 class mediator

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0030054 cell junction
GO:0045171 intercellular bridge


-  Descriptions from all associated GenBank mRNAs
  BC020589 - Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 13 like, mRNA (cDNA clone IMAGE:4413052), partial cds.
AF078036 - Homo sapiens RelA associated inhibitor (RAI) mRNA, complete cds.
AY869712 - Homo sapiens NFkB interacting protein 1 mRNA, complete cds.
AF078037 - Homo sapiens RelA associated inhibitor (RAI) mRNA, complete cds.
BC001475 - Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 13 like, mRNA (cDNA clone IMAGE:3139016), partial cds.
BC032298 - Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 13 like, mRNA (cDNA clone MGC:40454 IMAGE:4994121), complete cds.
BC014499 - Homo sapiens cDNA clone IMAGE:4859524, containing frame-shift errors.
BC020259 - Homo sapiens cDNA clone IMAGE:4872801, containing frame-shift errors.
BC064913 - Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 13 like, mRNA (cDNA clone MGC:75341 IMAGE:6068949), complete cds.
JD270646 - Sequence 251670 from Patent EP1572962.
JD386227 - Sequence 367251 from Patent EP1572962.
JD419938 - Sequence 400962 from Patent EP1572962.
JD364120 - Sequence 345144 from Patent EP1572962.
JD115394 - Sequence 96418 from Patent EP1572962.
JD369847 - Sequence 350871 from Patent EP1572962.
JD387165 - Sequence 368189 from Patent EP1572962.
JD085984 - Sequence 67008 from Patent EP1572962.
JD363655 - Sequence 344679 from Patent EP1572962.
JD119472 - Sequence 100496 from Patent EP1572962.
JD203050 - Sequence 184074 from Patent EP1572962.
JD473189 - Sequence 454213 from Patent EP1572962.
JD528102 - Sequence 509126 from Patent EP1572962.
JD525590 - Sequence 506614 from Patent EP1572962.
JD399837 - Sequence 380861 from Patent EP1572962.
JD039370 - Sequence 20394 from Patent EP1572962.
JD419972 - Sequence 400996 from Patent EP1572962.
JD206012 - Sequence 187036 from Patent EP1572962.
JD348834 - Sequence 329858 from Patent EP1572962.
JD373447 - Sequence 354471 from Patent EP1572962.
JD530333 - Sequence 511357 from Patent EP1572962.
DQ986418 - Homo sapiens IASPP short isoform (PPP1R13L) mRNA, complete cds.
AJ888472 - Homo sapiens mRNA for inhibitor of apoptosis stimulating protein of p53 (PPP1R13L gene).
KJ898297 - Synthetic construct Homo sapiens clone ccsbBroadEn_07691 PPP1R13L gene, encodes complete protein.
JD331573 - Sequence 312597 from Patent EP1572962.
AK130326 - Homo sapiens cDNA FLJ26816 fis, clone PRS06437.

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

Protein Q8WUF5 (Reactome details) participates in the following event(s):

R-HSA-6799761 TP53 binds PPP1R13L
R-HSA-6804759 Regulation of TP53 Activity through Association with Co-factors
R-HSA-5633007 Regulation of TP53 Activity
R-HSA-3700989 Transcriptional Regulation by TP53
R-HSA-212436 Generic Transcription Pathway
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000360957.1, ENST00000360957.2, ENST00000360957.3, ENST00000360957.4, ENST00000360957.5, ENST00000360957.6, ENST00000360957.7, ENST00000360957.8, ENST00000360957.9, IASPP, IASPP_HUMAN, NKIP1, NM_006663, PPP1R13BL, Q2PNZ9, Q5DU71, Q5I1X4, Q6P1R7, Q6PKF8, Q8WUF5, Q9Y290, RAI, uc318buq.1, uc318buq.2
UCSC ID: ENST00000360957.10_7
RefSeq Accession: NM_006663.4
Protein: Q8WUF5 (aka IASPP_HUMAN or IASP_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.