This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. ASPP proteins are required for the induction of apoptosis by p53-family proteins. They promote DNA binding and transactivation of p53-family proteins on the promote... See more...

Aliases for PPP1R13B Gene

Aliases for PPP1R13B Gene

  • Protein Phosphatase 1 Regulatory Subunit 13B 2 3 4 5
  • ASPP1 2 3 4
  • Protein Phosphatase 1, Regulatory (Inhibitor) Subunit 13B 2 3
  • Apoptosis-Stimulating Of P53 Protein 1 3 4
  • P53BP2-Like 2 3
  • KIAA0771 2 4
  • P85 2 3
  • Protein Phosphatase 1, Regulatory Subunit 13B 2
  • Apoptosis-Stimulating Protein Of P53, 1 3
  • PPP1R13B 5

External Ids for PPP1R13B Gene

Previous GeneCards Identifiers for PPP1R13B Gene

  • GC14M101591
  • GC14M098015
  • GC14M102190
  • GC14M103271
  • GC14M104200
  • GC14M084378

Summaries for PPP1R13B Gene

Entrez Gene Summary for PPP1R13B Gene

  • This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. ASPP proteins are required for the induction of apoptosis by p53-family proteins. They promote DNA binding and transactivation of p53-family proteins on the promoters of proapoptotic genes. Expression of this gene is regulated by the E2F transcription factor. [provided by RefSeq, Jul 2008]

GeneCards Summary for PPP1R13B Gene

PPP1R13B (Protein Phosphatase 1 Regulatory Subunit 13B) is a Protein Coding gene. Diseases associated with PPP1R13B include Schizophrenia. Among its related pathways are Beta-Adrenergic Signaling and Regulation of TP53 Activity. Gene Ontology (GO) annotations related to this gene include transcription factor binding. An important paralog of this gene is TP53BP2.

UniProtKB/Swiss-Prot Summary for PPP1R13B Gene

  • Regulator that plays a central role in regulation of apoptosis via its interaction with p53/TP53 (PubMed:11684014, PubMed:12524540). Regulates TP53 by enhancing the DNA binding and transactivation function of TP53 on the promoters of proapoptotic genes in vivo.

Gene Wiki entry for PPP1R13B Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PPP1R13B Gene

Genomics for PPP1R13B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PPP1R13B 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 PPP1R13B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PPP1R13B

Top Transcription factor binding sites by QIAGEN in the PPP1R13B gene promoter:
  • AML1a
  • AREB6
  • c-Rel
  • Ik-3
  • MyoD
  • Nkx2-5
  • p53
  • RORalpha2
  • YY1

Genomic Locations for PPP1R13B Gene

Latest Assembly
chr14:103,733,195-103,849,327
(GRCh38/hg38)
Size:
116,133 bases
Orientation:
Minus strand

Previous Assembly
chr14:104,199,532-104,313,912
(GRCh37/hg19 by Entrez Gene)
Size:
114,381 bases
Orientation:
Minus strand

chr14:104,200,089-104,313,927
(GRCh37/hg19 by Ensembl)
Size:
113,839 bases
Orientation:
Minus strand

Genomic View for PPP1R13B Gene

Genes around PPP1R13B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPP1R13B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPP1R13B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPP1R13B Gene

Proteins for PPP1R13B Gene

  • Protein details for PPP1R13B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96KQ4-ASPP1_HUMAN
    Recommended name:
    Apoptosis-stimulating of p53 protein 1
    Protein Accession:
    Q96KQ4
    Secondary Accessions:
    • B2RMX5
    • O94870

    Protein attributes for PPP1R13B Gene

    Size:
    1090 amino acids
    Molecular mass:
    119565 Da
    Quaternary structure:
    • Interacts with P53/TP53; the interaction promotes pro-apoptotic activity.
    Miscellaneous:
    • In contrast to its official gene name, it is not a regulatory subunit of protein phosphatase 1. This name was given due to its similarity with a protein that binds to protein phosphatase 1.

    Three dimensional structures from OCA and Proteopedia for PPP1R13B Gene

neXtProt entry for PPP1R13B Gene

Post-translational modifications for PPP1R13B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PPP1R13B Gene

Domains & Families for PPP1R13B Gene

Gene Families for PPP1R13B Gene

Protein Domains for PPP1R13B Gene

Suggested Antigen Peptide Sequences for PPP1R13B Gene

GenScript: Design optimal peptide antigens:
  • Protein phosphatase 1 regulatory subunit 13B (ASPP1_HUMAN)
  • cDNA FLJ13126 fis, clone NT2RP3002909, highly similar to Apoptosis-stimulating of p53 protein 1 (B3KN04_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96KQ4

UniProtKB/Swiss-Prot:

ASPP1_HUMAN :
  • The ankyrin repeats and the SH3 domain are required for specific interactions with TP53.
  • Belongs to the ASPP family.
Domain:
  • The ankyrin repeats and the SH3 domain are required for specific interactions with TP53.
Family:
  • Belongs to the ASPP family.
genes like me logo Genes that share domains with PPP1R13B: view

Function for PPP1R13B Gene

Molecular function for PPP1R13B Gene

UniProtKB/Swiss-Prot Function:
Regulator that plays a central role in regulation of apoptosis via its interaction with p53/TP53 (PubMed:11684014, PubMed:12524540). Regulates TP53 by enhancing the DNA binding and transactivation function of TP53 on the promoters of proapoptotic genes in vivo.

Phenotypes From GWAS Catalog for PPP1R13B Gene

Gene Ontology (GO) - Molecular Function for PPP1R13B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002039 p53 binding IBA 21873635
GO:0005515 protein binding IPI 11684014
GO:0008134 transcription factor binding IEA --
genes like me logo Genes that share ontologies with PPP1R13B: view
genes like me logo Genes that share phenotypes with PPP1R13B: view

Animal Models for PPP1R13B Gene

MGI Knock Outs for PPP1R13B:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPP1R13B

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PPP1R13B Gene

Localization for PPP1R13B Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPP1R13B Gene

Cytoplasm. Nucleus. Note=Predominantly cytoplasmic. Some fraction is nuclear.

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 PPP1R13B gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 4
mitochondrion 3
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PPP1R13B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 11684014
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm TAS 15782125
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with PPP1R13B: view

Pathways & Interactions for PPP1R13B Gene

genes like me logo Genes that share pathways with PPP1R13B: view

Pathways by source for PPP1R13B Gene

14 Qiagen pathways for PPP1R13B Gene
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Beta-Adrenergic Signaling
  • Breast Cancer Regulation by Stathmin1
  • cAMP Pathway

Gene Ontology (GO) - Biological Process for PPP1R13B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0042981 regulation of apoptotic process TAS --
GO:0045786 negative regulation of cell cycle IEA,TAS 14729977
GO:0072332 intrinsic apoptotic signaling pathway by p53 class mediator IDA 11684014
GO:1900740 positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway TAS --
genes like me logo Genes that share ontologies with PPP1R13B: view

No data available for SIGNOR curated interactions for PPP1R13B Gene

Drugs & Compounds for PPP1R13B Gene

No Compound Related Data Available

Transcripts for PPP1R13B Gene

mRNA/cDNA for PPP1R13B Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
18 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 PPP1R13B

Alternative Splicing Database (ASD) splice patterns (SP) for PPP1R13B Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^
SP1: - - -
SP2:
SP3:
SP4: - - -
SP5: - - - - - -
SP6:
SP7: -
SP8:
SP9: - - - - - - -
SP10: -
SP11: - - -
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:

ExUns: 16a · 16b · 16c ^ 17 ^ 18a · 18b · 18c · 18d ^ 19 ^ 20 ^ 21a · 21b · 21c ^ 22a · 22b ^ 23a · 23b ^ 24a · 24b ^ 25a · 25b
SP1:
SP2: - -
SP3:
SP4:
SP5: -
SP6: - -
SP7:
SP8:
SP9: -
SP10:
SP11: - - -
SP12: -
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:

Relevant External Links for PPP1R13B Gene

GeneLoc Exon Structure for
PPP1R13B

Expression for PPP1R13B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PPP1R13B Gene

Protein differential expression in normal tissues from HIPED for PPP1R13B Gene

This gene is overexpressed in Testis (15.7), Colon (8.4), Retina (8.1), Fetal gut (7.9), and Frontal cortex (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PPP1R13B Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PPP1R13B

SOURCE GeneReport for Unigene cluster for PPP1R13B Gene:

Hs.709297

mRNA Expression by UniProt/SwissProt for PPP1R13B Gene:

Q96KQ4-ASPP1_HUMAN
Tissue specificity: Reduced expression in breast carcinomas expressing a wild-type TP53 protein.

Evidence on tissue expression from TISSUES for PPP1R13B Gene

  • Nervous system(4.7)
  • Liver(4.3)
  • Intestine(2)
genes like me logo Genes that share expression patterns with PPP1R13B: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PPP1R13B Gene

Orthologs for PPP1R13B Gene

This gene was present in the common ancestor of animals.

Orthologs for PPP1R13B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PPP1R13B 29 30
  • 99.51 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PPP1R13B 29 30
  • 87.95 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PPP1R13B 29 30
  • 86.07 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ppp1r13b 29 16 30
  • 86.05 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PPP1R13B 30
  • 84 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ppp1r13b 29
  • 83.88 (n)
Oppossum
(Monodelphis domestica)
Mammalia PPP1R13B 30
  • 82 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PPP1R13B 29 30
  • 74.41 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PPP1R13B 30
  • 73 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ppp1r13b 29
  • 68.53 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.11488 29
Zebrafish
(Danio rerio)
Actinopterygii ppp1r13bb 29 30
  • 65.31 (n)
OneToMany
ppp1r13ba 30
  • 61 (a)
OneToMany
sbcb375 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG18375 31
  • 60 (a)
ASPP 30
  • 31 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea ape-1 30
  • 27 (a)
ManyToMany
mel-11 30
  • 13 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 41 (a)
OneToMany
Species where no ortholog for PPP1R13B 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)
  • 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 PPP1R13B Gene

ENSEMBL:
Gene Tree for PPP1R13B (if available)
TreeFam:
Gene Tree for PPP1R13B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PPP1R13B: view image
Alliance of Genome Resources:
Additional Orthologs for PPP1R13B

Paralogs for PPP1R13B Gene

Paralogs for PPP1R13B Gene

(5) SIMAP similar genes for PPP1R13B Gene using alignment to 8 proteins:

  • ASPP1_HUMAN
  • B3KN04_HUMAN
  • G3V2L3_HUMAN
  • G3V3S2_HUMAN
  • G3V5J1_HUMAN
  • H0YJG1_HUMAN
  • H0YJL1_HUMAN
  • L8EAS9_HUMAN
genes like me logo Genes that share paralogs with PPP1R13B: view

Variants for PPP1R13B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PPP1R13B Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs114723653 Benign: not provided 103,740,532(-) G/A
NM_015316.3(PPP1R13B):c.1884C>T (p.His628=)
SYNONYMOUS
rs140395624 Benign: not provided 103,754,193(-) T/C
NM_015316.3(PPP1R13B):c.508A>G (p.Ile170Val)
MISSENSE
rs143920315 Benign: not provided 103,741,949(-) G/T
NM_015316.3(PPP1R13B):c.1663C>A (p.Pro555Thr)
MISSENSE
rs149001440 Benign: not provided 103,740,262(-) G/A
NM_015316.3(PPP1R13B):c.2154C>T (p.Gly718=)
SYNONYMOUS
rs200187506 Benign: not provided 103,737,845(-) G/A
NM_015316.3(PPP1R13B):c.2880C>T (p.Cys960=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PPP1R13B 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 PPP1R13B Gene

Variant ID Type Subtype PubMed ID
dgv3947n54 CNV gain+loss 21841781
esv24784 CNV loss 19812545
esv2760013 CNV loss 17122850
esv3581413 CNV loss 25503493
esv3581414 CNV loss 25503493
esv3635606 CNV loss 21293372
esv3635608 CNV loss 21293372
esv3635609 CNV gain 21293372
esv3892582 CNV loss 25118596
nsv1054574 CNV loss 25217958
nsv1070241 CNV deletion 25765185
nsv1116046 CNV deletion 24896259
nsv1126378 CNV deletion 24896259
nsv470673 CNV loss 18288195
nsv566026 CNV loss 21841781
nsv566027 CNV gain 21841781
nsv9172 CNV gain 18304495

Variation tolerance for PPP1R13B Gene

Residual Variation Intolerance Score: 4.83% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.68; 46.03% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPP1R13B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPP1R13B
Leiden Open Variation Database (LOVD)
PPP1R13B

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPP1R13B Gene

Disorders for PPP1R13B Gene

MalaCards: The human disease database

(1) MalaCards diseases for PPP1R13B Gene - From: GCD

Disorder Aliases PubMed IDs
schizophrenia
  • sczd
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PPP1R13B

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 PPP1R13B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PPP1R13B Gene

Publications for PPP1R13B Gene

  1. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9872452) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4
  2. Epigenetic silence of ankyrin-repeat-containing, SH3-domain-containing, and proline-rich-region- containing protein 1 (ASPP1) and ASPP2 genes promotes tumor growth in hepatitis B virus-positive hepatocellular carcinoma. (PMID: 20034025) Zhao J … Guo Y (Hepatology (Baltimore, Md.) 2010) 3 22
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  4. Single-nucleotide polymorphisms in DNA-repair genes and cutaneous melanoma. (PMID: 20601096) Figl A … Kumar R (Mutation research 2010) 3 40
  5. ASPP1, a common activator of TP53, is inactivated by aberrant methylation of its promoter in acute lymphoblastic leukemia. (PMID: 16314841) Agirre X … Prósper F (Oncogene 2006) 3 22

Products for PPP1R13B Gene

  • Biorbyt antibodies for PPP1R13B

Sources for PPP1R13B Gene