IASPP is one of the most evolutionarily conserved inhibitors of p53 (TP53; MIM 191170), whereas ASPP1 (MIM 606455) and ASPP2 (MIM 602143) are activators of p53.[supplied by OMIM, Mar 2008] See more...

Aliases for PPP1R13L Gene

Aliases for PPP1R13L Gene

  • Protein Phosphatase 1 Regulatory Subunit 13 Like 2 3 5
  • RelA-Associated Inhibitor 2 3 4
  • IASPP 2 3 4
  • RAI 2 3 4
  • Protein Phosphatase 1, Regulatory (Inhibitor) Subunit 13 Like 2 3
  • Inhibitor Of ASPP Protein 3 4
  • PPP1R13B-Like Protein 3 4
  • Protein IASPP 3 4
  • NKIP1 3 4
  • Protein Phosphatase 1, Regulatory Subunit 13 Like 2
  • Inhibitor Of Apoptosis Stimulating Protein Of P53 3
  • NFkB Interacting Protein 1 3
  • NFkB-Interacting Protein 1 4
  • Retinoic Acid Induced 4 3
  • PPP1R13BL 4
  • PPP1R13L 5
  • RAI4 3

External Ids for PPP1R13L Gene

Previous GeneCards Identifiers for PPP1R13L Gene

  • GC19M050575
  • GC19M045883
  • GC19M042315

Summaries for PPP1R13L Gene

Entrez Gene Summary for PPP1R13L Gene

  • IASPP is one of the most evolutionarily conserved inhibitors of p53 (TP53; MIM 191170), whereas ASPP1 (MIM 606455) and ASPP2 (MIM 602143) are activators of p53.[supplied by OMIM, Mar 2008]

GeneCards Summary for PPP1R13L Gene

PPP1R13L (Protein Phosphatase 1 Regulatory Subunit 13 Like) is a Protein Coding gene. Diseases associated with PPP1R13L include Noonan Syndrome With Multiple Lentigines and Dilated Cardiomyopathy. Among its related pathways are Regulation of TP53 Activity and p53 pathway. Gene Ontology (GO) annotations related to this gene include identical protein binding and transcription corepressor activity.

UniProtKB/Swiss-Prot Summary for PPP1R13L Gene

  • 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 (PubMed:12524540).

Gene Wiki entry for PPP1R13L Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PPP1R13L Gene

Genomics for PPP1R13L Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PPP1R13L Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PPP1R13L on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PPP1R13L

Top Transcription factor binding sites by QIAGEN in the PPP1R13L gene promoter:
  • E2F-4
  • E2F-5
  • p53

Genomic Locations for PPP1R13L Gene

Latest Assembly
chr19:45,379,634-45,406,361
(GRCh38/hg38)
Size:
26,728 bases
Orientation:
Minus strand

Previous Assembly
chr19:45,882,896-45,909,619
(GRCh37/hg19 by Entrez Gene)
Size:
26,724 bases
Orientation:
Minus strand

chr19:45,882,892-45,909,607
(GRCh37/hg19 by Ensembl)
Size:
26,716 bases
Orientation:
Minus strand

Genomic View for PPP1R13L Gene

Genes around PPP1R13L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPP1R13L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPP1R13L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPP1R13L Gene

Proteins for PPP1R13L Gene

  • Protein details for PPP1R13L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WUF5-IASPP_HUMAN
    Recommended name:
    RelA-associated inhibitor
    Protein Accession:
    Q8WUF5
    Secondary Accessions:
    • Q2PNZ9
    • Q5DU71
    • Q5I1X4
    • Q6P1R7
    • Q6PKF8
    • Q9Y290

    Protein attributes for PPP1R13L Gene

    Size:
    828 amino acids
    Molecular mass:
    89091 Da
    Quaternary structure:
    • Interacts with RELA NF-kappa-B subunit and with SP1 via its C-terminus part. Interacts (via SH3 domain and ANK repeats) with p53/TP53; the interaction inhibits pro-apoptotic activity of p53/TP53 (PubMed:12524540). Interacts with TP63 and TP73.
    SequenceCaution:
    • Sequence=AAD27004.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAD27005.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAD27005.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PPP1R13L Gene

neXtProt entry for PPP1R13L Gene

Post-translational modifications for PPP1R13L Gene

  • Ubiquitination at Lys541
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PPP1R13L Gene

Domains & Families for PPP1R13L Gene

Gene Families for PPP1R13L Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for PPP1R13L Gene

Suggested Antigen Peptide Sequences for PPP1R13L Gene

GenScript: Design optimal peptide antigens:
  • Protein phosphatase 1, regulatory (Inhibitor) subunit 13 like, isoform CRA_b (A7YME7_HUMAN)
  • PPP1R13B-like protein (IASPP_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WUF5

UniProtKB/Swiss-Prot:

IASPP_HUMAN :
  • The N-terminal region is required for cytoplasmic localization.
  • Belongs to the iASPP family.
Domain:
  • The N-terminal region is required for cytoplasmic localization.
  • The ANK repeats and the SH3 domain are required for specific interactions with p53/TP53.
Family:
  • Belongs to the iASPP family.
genes like me logo Genes that share domains with PPP1R13L: view

Function for PPP1R13L Gene

Molecular function for PPP1R13L Gene

UniProtKB/Swiss-Prot 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 (PubMed:12524540).

Phenotypes From GWAS Catalog for PPP1R13L Gene

Gene Ontology (GO) - Molecular Function for PPP1R13L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003714 transcription corepressor activity TAS 10336463
GO:0005515 protein binding IPI 17906639
GO:0008134 transcription factor binding TAS,IEA --
GO:0042802 identical protein binding IPI 18275817
GO:0045296 cadherin binding HDA 25468996
genes like me logo Genes that share ontologies with PPP1R13L: view
genes like me logo Genes that share phenotypes with PPP1R13L: view

Animal Models for PPP1R13L Gene

MGI Knock Outs for PPP1R13L:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPP1R13L

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PPP1R13L Gene

Localization for PPP1R13L Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPP1R13L Gene

Cytoplasm. Nucleus. Note=Predominantly cytoplasmic but also nuclear. {ECO:0000269 PubMed:15489900}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PPP1R13L gene
Compartment Confidence
cytosol 5
extracellular 4
nucleus 4
plasma membrane 1
cytoskeleton 1
mitochondrion 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PPP1R13L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 10336463
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
GO:0030054 cell junction IDA --
genes like me logo Genes that share ontologies with PPP1R13L: view

Pathways & Interactions for PPP1R13L Gene

genes like me logo Genes that share pathways with PPP1R13L: view

Pathways by source for PPP1R13L Gene

Gene Ontology (GO) - Biological Process for PPP1R13L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0003215 cardiac right ventricle morphogenesis IEA --
GO:0003229 ventricular cardiac muscle tissue development IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
genes like me logo Genes that share ontologies with PPP1R13L: view

No data available for SIGNOR curated interactions for PPP1R13L Gene

Drugs & Compounds for PPP1R13L Gene

(3) Drugs for PPP1R13L Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Potent pro-apoptotic anticancer agent; activates caspase-3, Platinum 3624
Gemcitabine Approved Pharma Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs 2590
Platinum compounds Pharma 0
genes like me logo Genes that share compounds with PPP1R13L: view

Transcripts for PPP1R13L Gene

mRNA/cDNA for PPP1R13L Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPP1R13L

Alternative Splicing Database (ASD) splice patterns (SP) for PPP1R13L Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b
SP1:
SP2:
SP3: -

Relevant External Links for PPP1R13L Gene

GeneLoc Exon Structure for
PPP1R13L

Expression for PPP1R13L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PPP1R13L Gene

mRNA differential expression in normal tissues according to GTEx for PPP1R13L Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x6.8), Skin - Not Sun Exposed (Suprapubic) (x6.8), and Esophagus - Mucosa (x5.2).

Protein differential expression in normal tissues from HIPED for PPP1R13L Gene

This gene is overexpressed in Cervix (30.3), Urine (14.8), and Pancreas (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PPP1R13L Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PPP1R13L

SOURCE GeneReport for Unigene cluster for PPP1R13L Gene:

Hs.466937

mRNA Expression by UniProt/SwissProt for PPP1R13L Gene:

Q8WUF5-IASPP_HUMAN
Tissue specificity: Highly expressed in heart, placenta and prostate. Weakly expressed in brain, liver, skeletal muscle, testis and peripheral blood leukocyte.

Evidence on tissue expression from TISSUES for PPP1R13L Gene

  • Liver(4.3)
  • Skin(2.9)
  • Lung(2.3)
  • Heart(2.2)
  • Pancreas(2.1)
genes like me logo Genes that share expression patterns with PPP1R13L: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PPP1R13L Gene

Orthologs for PPP1R13L Gene

This gene was present in the common ancestor of animals.

Orthologs for PPP1R13L Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PPP1R13L 29 30
  • 99.36 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PPP1R13L 30
  • 90 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia PPP1R13L 29 30
  • 86.43 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ppp1r13l 29
  • 82.97 (n)
Mouse
(Mus musculus)
Mammalia Ppp1r13l 29 16 30
  • 82.81 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PPP1R13L 30
  • 75 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PPP1R13L 30
  • 66 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PPP1R13L 30
  • 59 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.19607 29
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.6245 29
Zebrafish
(Danio rerio)
Actinopterygii ppp1r13l 30
  • 35 (a)
OneToOne
Dr.19303 29
Fruit Fly
(Drosophila melanogaster)
Insecta ASPP 30
  • 18 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea ape-1 30
  • 20 (a)
ManyToMany
mel-11 30
  • 11 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 18 (a)
OneToMany
Species where no ortholog for PPP1R13L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PPP1R13L Gene

ENSEMBL:
Gene Tree for PPP1R13L (if available)
TreeFam:
Gene Tree for PPP1R13L (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PPP1R13L: view image
Alliance of Genome Resources:
Additional Orthologs for PPP1R13L

Paralogs for PPP1R13L Gene

(5) SIMAP similar genes for PPP1R13L Gene using alignment to 6 proteins:

  • IASPP_HUMAN
  • A7YME7_HUMAN
  • K7EML6_HUMAN
  • K7EN03_HUMAN
  • K7ENG6_HUMAN
  • K7EPP1_HUMAN
genes like me logo Genes that share paralogs with PPP1R13L: view

No data available for Paralogs for PPP1R13L Gene

Variants for PPP1R13L Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PPP1R13L Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
974803 Likely Pathogenic: Primary dilated cardiomyopathy 45,380,190(-) CT/GA
NM_006663.4(PPP1R13L):c.2486_2487delinsTC (p.Ter829Phe)
STOP_LOST
974804 Likely Pathogenic: Primary dilated cardiomyopathy 45,392,084(-) AG/A
NM_006663.4(PPP1R13L):c.1610del (p.Pro537fs)
FRAMESHIFT
974805 Pathogenic/Likely Pathogenic: Primary dilated cardiomyopathy; Oral cleft 45,396,384(-) CAGGTCAGACTCGTTC
NM_006663.4(PPP1R13L):c.736_764del (p.Pro246fs)
FRAMESHIFT
974806 Uncertain Significance: Primary dilated cardiomyopathy 45,385,643(-) T/G
NM_006663.4(PPP1R13L):c.2167A>C (p.Thr723Pro)
MISSENSE
974807 Likely Pathogenic: Primary dilated cardiomyopathy 45,392,157(-) AC/A
NM_006663.4(PPP1R13L):c.1537del (p.Val513fs)
FRAMESHIFT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PPP1R13L Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PPP1R13L Gene

Variant ID Type Subtype PubMed ID
dgv1054e212 CNV gain 25503493
dgv1788n106 CNV deletion 24896259
dgv3606n100 CNV gain 25217958
dgv648e199 CNV deletion 23128226
esv3556461 CNV deletion 23714750
esv3644502 CNV gain 21293372
esv3644505 CNV loss 21293372
esv6828 CNV loss 19470904
nsv1063547 CNV gain 25217958
nsv1109201 CNV deletion 24896259
nsv1151840 CNV deletion 26484159
nsv428365 CNV gain+loss 18775914
nsv442466 CNV gain 18776908
nsv458711 CNV gain 19166990
nsv579867 CNV gain 21841781
nsv833844 CNV loss 17160897
nsv833845 CNV loss 17160897
nsv833846 CNV loss 17160897
nsv954623 CNV deletion 24416366

Variation tolerance for PPP1R13L Gene

Residual Variation Intolerance Score: 13.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.82; 34.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPP1R13L Gene

Human Gene Mutation Database (HGMD)
PPP1R13L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPP1R13L
Leiden Open Variation Database (LOVD)
PPP1R13L

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPP1R13L Gene

Disorders for PPP1R13L Gene

MalaCards: The human disease database

(3) MalaCards diseases for PPP1R13L Gene - From: CVR, COP, and GCD

Disorder Aliases PubMed IDs
noonan syndrome with multiple lentigines
  • capute-rimoin-konigsmark-esterly-richardson syndrome
dilated cardiomyopathy
  • congestive cardiomyopathy
basal cell carcinoma
  • basal cell cancer
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PPP1R13L

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PPP1R13L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PPP1R13L Gene

Publications for PPP1R13L Gene

  1. Identification of a novel inhibitor of nuclear factor-kappaB, RelA-associated inhibitor. (PMID: 10336463) Yang JP … Okamoto T (The Journal of biological chemistry 1999) 2 3 4 22
  2. Linkage disequilibrium mapping of a breast cancer susceptibility locus near RAI/PPP1R13L/iASPP. (PMID: 18588689) Nexø BA … Børglum AD (BMC medical genetics 2008) 3 22 40
  3. A haplotype of polymorphisms in ASE-1, RAI and ERCC1 and the effects of tobacco smoking and alcohol consumption on risk of colorectal cancer: a Danish prospective case-cohort study. (PMID: 18289367) Hansen RD … Vogel U (BMC cancer 2008) 3 22 40
  4. The N-terminus of a novel isoform of human iASPP is required for its cytoplasmic localization. (PMID: 15489900) Slee EA … Lu X (Oncogene 2004) 3 4 22
  5. iASPP oncoprotein is a key inhibitor of p53 conserved from worm to human. (PMID: 12524540) Bergamaschi D … Lu X (Nature genetics 2003) 3 4 22

Products for PPP1R13L Gene

Sources for PPP1R13L Gene