Ask about this productRelated genes to: TBL1XR1 Blocking Peptide
- Gene:
- TBL1XR1 NIH gene
- Name:
- transducin beta like 1 X-linked receptor 1
- Previous symbol:
- -
- Synonyms:
- IRA1, FLJ12894, TBLR1, C21, DC42
- Chromosome:
- 3q26.32
- Locus Type:
- gene with protein product
- Date approved:
- 2004-08-09
- Date modifiied:
- 2016-10-05
Related products to: TBL1XR1 Blocking Peptide
Related articles to: TBL1XR1 Blocking Peptide
- Pierpont syndrome is a rare autosomal dominant disorder caused by pathogenic variants in TBL1XR1 gene, characterized by distinctive craniofacial features, plantar lipomatosis, and neurodevelopmental disorders. Urological malformations were reported, but signifcant kidney function impairment has never been described in previous cases. - Source: PubMed
Publication date: 2026/06/27
Wong Sze WaTong Pak ChiuChong Josephine Shuk ChingLeung Lettie Chuk KwanChan Eugene Yu HinMa Alison Lap Tak - Neurodevelopmental disorders were a wide range of cognitive and behavioural disorders. Its pathogenic genes, transduction beta like 1 X-linked receptor 1 (TBL1XR1), had been a hot research topic recently. However, reports involving treatment and long-term follow-up were still limited. - Source: PubMed
Cao FangfangXie JihuaHuang ZhixinXiong LingZha Jian - Macrophage antimicrobial programs are regulated not only by transcriptional networks but also by RNA processing mechanisms affecting signal transduction and effector responses. One such mechanism, alternative polyadenylation (APA), determines mRNA fate by changing the length of the 3' UTR. However, our understanding of the impact of APA on antibacterial functions and how we can manipulate it to influence infection outcomes remains limited. In this study, we identify the APA regulator CFIm25 (NUDT21) as a promoter of macrophage defense against serovar Typhimurium (STM). STM infection is known to drive macrophages toward an M2-like immunosuppressive state conducive to bacterial survival. Concurrent with this transition, the CFIm25 level is reduced, and the 3' UTRs of CFIm25 targets encoding key immune proteins, such as TAB2 and TBL1XR1, are lengthened, suggesting a role for APA changes in the response to STM. Overexpression of CFIm25 in infected macrophages blocks these -induced 3' UTR changes, leading to greater mRNA and protein expression. Significantly, the increase in CFIm25 suppresses infection, thereby creating a more antimicrobial intracellular environment, improving macrophage survival, and reducing M2 properties that support bacterial replication. Specifically, CFIm25 enhances production of the antibacterial peptide LL-37, increases reactive oxygen species and nitric oxide levels, suppresses arginase activity and lactate production, and stimulates release of pro-inflammatory cytokines while inhibiting anti-inflammatory cytokines. Depletion studies show TAB2 mediates CFIm25's antibacterial effects by activating both MAPK and NF-kB pathways. Our findings highlight APA regulation as a potential target for boosting immune defenses and developing treatments for chronic bacterial infections. - Source: PubMed
Publication date: 2026/02/28
Barua AtishMukherjee SrimoyeeBourgeois JeffMoore Claire L - A main mechanism of β-cell dysfunction in diabetes is loss of identity, controlled by transcription factors that induce identity gene expression and disallowed gene repression. How transcription factors facilitate simultaneous expression and repression is not fully understood, representing a knowledge gap in diabetes research. We identify the transcriptional co-factors transducin β-like 1 x-linked (TBL1X) and its homolog TBL1X-related (TBL1XR1, together TBL/R1) as crucial regulators of β-cell identity and determinants of diabetes development and progression. β-cell specific TBL/R1 knockout in mice leads to progressive hypoinsulinemia and hyperglycemia. scRNA-sequencing reveals loss of β-cells, emergence of polyhormonal cells, and reduced β-cell maturity upon TBL/R1 knockout. Interactome screens and chromatin immunoprecipitation show TBL/R1 directly regulate insulin promoter activity through a PAX6-HDAC3 gene regulatory network, evident also in human models. TBL/R1 associates with diabetes in humans, thus our study uncovers an additional regulatory layer maintaining β-cell identity crucial for diabetes development and progression. - Source: PubMed
Publication date: 2026/04/23
Walth-Hummel Alina AJouffe CelineWeber PeterMotzler KarstenGeppert JuliaSterr MichaelGan WeiSzczerbinska IwonaKönig Ann-ChristineHauck Stefanie MTerron-Exposito RaulHass DanielaWang CongcongDyar Kenneth ALyon James GLickert HeikoÄmmälä CarinaHerzig StephanAshcroft Frances MBakhti MostafaMacDonald Patrick ERohm Maria - Relevance exists between tumorigenesis and embryonic development. Distinct clinical and molecular features, as well as the relationship between the pattern of lymphoma invasion and germ layer development remain largely unknown. We identified a germ layer-dependent specification of extranodal invasion (ENI) in diffuse large B-cell lymphoma. Upon R-CHOP (rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone) treatment, mesoderm-originating ENI (ENI-mesoderm) was significantly associated with inferior progression-free survival and overall survival, as compared to ectoderm-originating ENI (ENI-ectoderm) and endoderm-originating ENI (ENI-endoderm). Representative oncogenic mutations were MYD88, PIM1, and TBL1XR1 in ENI-ectoderm, TP53 and TET2 in ENI-endoderm, and MYD88, PIM1, TBL1XR1, and CD79B in ENI-mesoderm. Notably, organotrophic migration exhibited temporal disparities corresponding to germ layer development, occurring from ectoderm- to endoderm- and mesoderm-originating organs, with a similar trajectory to the germ layer process. Single-cell RNA sequencing revealed that malignant B cells follow a developmental trajectory mirroring the germ layer process, differentiating from a progenitor state enriched with NF-κB and T-cell activation signaling into two distinct branches by either upregulated B-cell receptor signaling (Path I) or sustained T-cell activation (Path II). Regarding immune checkpoints, ENI-ectoderm, ENI-endoderm, and ENI-mesoderm exhibited significant upregulation of LGALS9, PD-L1, and B7-H3, respectively. Our findings thus contributed to a better understanding of crosstalk between lymphoma progression and embryonic development, providing new insights into targeted approaches against germ layer-dependent invasion in cancer treatment. - Source: PubMed
Publication date: 2026/03/04
Dong YanXu Peng-PengHan XiaoWang Yu-QingChen YiFang YingZhu YueShi QingShen RongShi Zi-YangQiao NiuCheng ShuLiu YuWang LiZhang Mu-ChenZhao Wei-Li