Ask about this productRelated genes to: PPP1R13B antibody
- Gene:
- PPP1R13B NIH gene
- Name:
- protein phosphatase 1 regulatory subunit 13B
- Previous symbol:
- -
- Synonyms:
- p53BP2-like, KIAA0771, p85, ASPP1
- Chromosome:
- 14q32.33
- Locus Type:
- gene with protein product
- Date approved:
- 2001-06-29
- Date modifiied:
- 2015-11-18
Related products to: PPP1R13B antibody
Related articles to: PPP1R13B antibody
- ASPP1 (PPP1R13B) belongs to a family of p53-binding proteins and enhances apoptosis by stimulation of p53-transactivation of selected proapoptotic target genes. It is preferentially expressed in hematopoietic stem cells (HSC) and together with p53 preserves the genomic integrity of the HSC pool. Consequently, dysfunction of ASPP1 has been associated with malignant transformation and development of acute lymphoblastic leukemias and lymphomas - whereas methylation of the promoter region is linked to reduced transcription and ultimately attenuated expression of ASPP1. The role of ASPP1 in AML is not known. We now show that impaired regulation of PPP1R13B contributes to the biology of leukemogenesis and primary therapy resistance in AML. PPP1R13B mRNA expression patterns thereby define a distinct prognostic profile - which is not reflected by the European leukemia net (ELN) risk score. These findings have direct therapeutic implications and we provide a strategy to restore ASPP1 protein levels using hypomethylating agents to sensitize cells towards proapoptotic drugs. Prospective clinical trials are warranted to investigate the role of ASPP1 (PPP1R13B) as a biomarker for risk stratification and as a potential therapeutic target to restore susceptibility to chemotherapy. - Source: PubMed
Publication date: 2024/01/10
Schittenhelm Marcus MKaiser MaxGyőrffy BalázsKampa-Schittenhelm Kerstin M - Recently, worldwide incidences of young adult aggressive colorectal cancer (CRC) have rapidly increased. Of these incidences diagnosed as familial Lynch syndrome (LS) CRC, outcomes are extremely poor. In this study, we seek novel familial germline variants from a large pedigree Tunisian family with 12 LS-affected individuals to identify putative germline variants associated with varying risk of LS. Whole-genome sequencing analysis was performed to identify known and novel germline variants shared between affected and non-affected pedigree members. SNPs, indels, and structural variants (SVs) were computationally identified, and their oncological influence was predicted using the Genetic Association of Complex Diseases and Disorders, OncoKB, and My Cancer Genome databases. Of 94 germline familial variants identified with predicted functional impact, 37 SNPs/indels were detected in 28 genes, 2 of which (MLH1 and PRH1-TAS2R14) have known association with CRC and 4 others (PPP1R13B, LAMA5, FTO, and NLRP14) have known association with non-CRC cancers. In addition, 48 of 57 identified SVs overlap with 43 genes. Three of these genes (RELN, IRS2, and FOXP1) have a known association with non-CRC digestive cancers and one (RRAS2) has a known association with non-CRC cancer. Our study identified 83 novel, predicted functionally impactful germline variants grouped in three "variant risk clusters" shared in three familiarly associated LS groups (high, intermediate and low risk). This variant characterization study demonstrates that large pedigree investigations provide important evidence supporting the hypothesis that different "variant risk clusters" can convey different mechanisms of risk and oncogenesis of LS-CRC even within the same pedigree. - Source: PubMed
Publication date: 2023/08/12
Barbirou MouadhMiller Amanda AMezlini AmelBouhaouala-Zahar BalkissTonellato Peter J - Alzheimer's disease (AD) is a common neurodegenerative disease in aging individuals. Alternative splicing is reported to be relevant to AD development while their roles in etiology of AD remain largely elusive. We performed a comprehensive splicing transcriptome-wide association study (spTWAS) using intronic excision expression genetic prediction models of 12 brain tissues developed through three modelling strategies, to identify candidate susceptibility splicing introns for AD risk. A total of 111,326 (46,828 proxy) cases and 677,663 controls of European ancestry were studied. We identified 343 associations of 233 splicing introns (143 genes) with AD risk after Bonferroni correction (0.05/136,884 = 3.65 × 10). Fine-mapping analyses supported 155 likely causal associations corresponding to 83 splicing introns of 55 genes. Eighteen causal splicing introns of 15 novel genes (EIF2D, WDR33, SAP130, BYSL, EPHB6, MRPL43, VEGFB, PPP1R13B, TLN2, CLUHP3, LRRC37A4P, CRHR1, LINC02210, ZNF45-AS1, and XPNPEP3) were identified for the first time to be related to AD susceptibility. Our study identified novel genes and splicing introns associated with AD risk, which can improve our understanding of the etiology of AD. - Source: PubMed
Publication date: 2023/06/22
Sun YanfaBae Ye EunZhu JingjingZhang ZichenZhong HuaYu JieWu ChongWu Lang - Ovaries are important endocrine organs in female animals that secrete various steroid hormones, which are involved in multiple physiological functions. Estrogen, one of the hormones secreted by ovaries, is essential for the overall maintenance of muscle growth and development. However, the molecular mechanisms that affect muscle growth and development in sheep following ovariectomy remain unclear. In this study, we identified 1662 differentially expressed mRNAs (DEGs) and 40 differentially expressed miRNAs (DEMs) in sheep that underwent ovariectomy compared with those that underwent sham surgery. A total of 178 DEG-DEM pairs were negatively correlated. GO and KEGG analysis showed that PPP1R13B was involved in the PI3K-Akt signaling pathway, which was essential for muscle development. Using in vitro experiments, we examined the effect of PPP1R13B on myoblast proliferation and found that overexpression or inhibition of PPP1R13B increased or decreased the expression of myoblast proliferation markers, respectively. PPP1R13B was identified as a functional downstream target of miR-485-5p. Our results suggested that miR-485-5p promoted myoblast proliferation by regulating proliferation factors in myoblasts by targeting PPP1R13B. Notably, exogenous estradiol supplementation to myoblasts regulated the expression of oar-miR-485-5p and PPP1R13B and promoted myoblast proliferation. These results provided new insights into the molecular mechanism by which ovaries influence muscle growth and development in sheep. - Source: PubMed
Publication date: 2023/03/10
Liu SiqiLiu ZiyiWang PengLi WentaoZhao ShengguoLiu YufangChu Mingxing - ASPP1 (apoptosis stimulating of p53 protein 1) is critical in regulating cell apoptosis as a cofactor of p53 to promote its transcriptional activity in the nucleus. However, whether cytoplasmic ASPP1 affects p53 nuclear trafficking and its role in cardiac diseases remains unknown. This study aims to explore the mechanism by which ASPP1 modulates p53 nuclear trafficking and the subsequent contribution to cardiac ischemia/reperfusion (I/R) injury. - Source: PubMed
Publication date: 2022/12/30
Yang YingZhang YangYang JiqinZhang ManmanTian TaoJiang YuanLiu XueningXue GenlongLi XingdaZhang XiaofangLi ShangxuanHuang XiangLi ZhengGuo YangZhao LexinBao HairongZhou ZhiwenSong JiahuiYang GuohuiXuan LinaShan HongliZhang ZhirenLu YanjieYang BaofengPan Zhenwei