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Aliases for PPP1R13B Gene

Aliases for PPP1R13B Gene

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

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. Among its related pathways are Beta-Adrenergic Signaling and Gene Expression. Gene Ontology (GO) annotations related to this gene include transcription factor binding. An important paralog of this gene is TP53BP2.

UniProtKB/Swiss-Prot for PPP1R13B Gene

  • Regulator that plays a central role in regulation of apoptosis via its interaction with p53/TP53. 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

Additional gene information for PPP1R13B Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPP1R13B Gene

Genomics for PPP1R13B Gene

GeneHancer (GH) Regulatory Elements for PPP1R13B Gene

Promoters and enhancers for PPP1R13B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14I103846 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 560.2 +1.0 979 3.2 ZFP64 ARID4B SIN3A ZNF48 GTF3C2 GLIS2 ZNF213 ELK1 ZNF207 ZNF143 PPP1R13B LINC00637 XRCC3 ZFYVE21
GH14I103204 Promoter/Enhancer 2.2 FANTOM5 Ensembl ENCODE dbSUPER 11.1 +641.6 641614 6 PKNOX1 ARNT ZNF133 GLI4 BRCA1 ZNF280A TCF12 CBX5 GATA2 ZNF416 ENSG00000278071 ENSG00000270705 XRCC3 CDC42BPB RCOR1 MOK BAG5 PPP1R13B TNFAIP2 LINC00605
GH14I103819 Enhancer 1.1 Ensembl ENCODE dbSUPER 21.9 +29.0 28963 0.8 KLF1 SAP130 MZF1 FEZF1 ZNF335 ZNF366 PATZ1 PRDM10 KLF7 ZNF600 PPP1R13B XRCC3 APOPT1 GC14M103799 ENSG00000202275 LINC00637
GH14I103909 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.7 -61.5 -61489 1.2 PKNOX1 CLOCK ARID4B SIN3A ZNF2 ZNF48 YY1 ZNF143 DEK PAF1 PPP1R13B ENSG00000202275 ATP5MPL ASPG TDRD9 GC14P103906 GC14M103922 GC14M103921
GH14I103887 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 9.8 -40.9 -40948 4.1 ATF1 FOXA2 ARID4B DMAP1 ZNF48 YY1 FOS RXRA SP5 REST PPP1R13B ATP5MPL KLC1 TDRD9 LOC105370690 ENSG00000269958 TRMT61A GC14P103903
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PPP1R13B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PPP1R13B gene promoter:

Genomic Locations for PPP1R13B Gene

Genomic Locations for PPP1R13B Gene
chr14:103,733,751-103,848,967
(GRCh38/hg38)
Size:
115,217 bases
Orientation:
Minus strand
chr14:104,200,088-104,313,927
(GRCh37/hg19)

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 TP53.
    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.

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

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. 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: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:

Animal Model Products

Clone Products

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
plasma membrane 5
nucleus 5
cytosol 5
mitochondrion 2

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 IDA,IEA 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

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 TAS,IEA 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

Unigene Clusters for PPP1R13B Gene

Protein phosphatase 1, regulatory subunit 13B:
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
PPP1R13B

Expression for PPP1R13B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for PPP1R13B Gene



NURSA nuclear receptor signaling pathways regulating expression of PPP1R13B Gene:

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(4.6)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with PPP1R13B: view

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 33 34
  • 99.51 (n)
dog
(Canis familiaris)
Mammalia PPP1R13B 33 34
  • 87.95 (n)
cow
(Bos Taurus)
Mammalia PPP1R13B 33 34
  • 86.07 (n)
mouse
(Mus musculus)
Mammalia Ppp1r13b 33 16 34
  • 86.05 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PPP1R13B 34
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ppp1r13b 33
  • 83.88 (n)
oppossum
(Monodelphis domestica)
Mammalia PPP1R13B 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves PPP1R13B 33 34
  • 74.41 (n)
lizard
(Anolis carolinensis)
Reptilia PPP1R13B 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppp1r13b 33
  • 68.53 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.11488 33
zebrafish
(Danio rerio)
Actinopterygii ppp1r13bb 33 34
  • 65.31 (n)
ppp1r13ba 34
  • 61 (a)
OneToMany
sbcb375 33
fruit fly
(Drosophila melanogaster)
Insecta CG18375 35
  • 60 (a)
ASPP 34
  • 31 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ape-1 34
  • 27 (a)
ManyToMany
mel-11 34
  • 13 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 41 (a)
OneToMany
Species where no ortholog for PPP1R13B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for PPP1R13B Gene

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

Variants for PPP1R13B Gene

Sequence variations from dbSNP and Humsavar for PPP1R13B Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs863223358 benign, Childhood-Onset Schizophrenia 103,784,857(-) C/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1000036713 -- 103,766,862(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000066512 -- 103,846,657(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000066684 -- 103,763,790(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000141528 -- 103,807,212(-) T/C genic_upstream_transcript_variant, intron_variant

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

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

Disorders for PPP1R13B Gene

Additional Disease Information for PPP1R13B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for PPP1R13B Gene.

No data available for MalaCards , 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 58
  2. 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 44 58
  3. Single-nucleotide polymorphisms in DNA-repair genes and cutaneous melanoma. (PMID: 20601096) Figl A … Kumar R (Mutation research 2010) 3 44 58
  4. 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 58
  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 58

Products for PPP1R13B Gene

Sources for PPP1R13B Gene

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