TFCP2L1 antibody - N-terminal region (ARP31918_P050)
- Known as:
- TFCP2L1 (anti-) - N-terminal region (ARP31918_P050)
- Catalog number:
- arp31918_p050
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- TFCP2L1 antibody - N-terminal region (ARP31918_P050)
Related genes to: TFCP2L1 antibody - N-terminal region (ARP31918_P050)
- Gene:
- TFCP2L1 NIH gene
- Name:
- transcription factor CP2 like 1
- Previous symbol:
- -
- Synonyms:
- LBP-9, CRTR1
- Chromosome:
- 2q14.2
- Locus Type:
- gene with protein product
- Date approved:
- 2004-01-05
- Date modifiied:
- 2016-10-05
Related products to: TFCP2L1 antibody - N-terminal region (ARP31918_P050)
Related articles to: TFCP2L1 antibody - N-terminal region (ARP31918_P050)
- Systematic analysis of copy number variants (CNVs) in large datasets is challenging and there are limited studies of homozygous copy number losses in rare disease exome datasets. Here we leveraged the genomic uniqueness and relative under-representation of the Indian population in the current public genomic databases and identified 42,386 possible homozygous losses (median count 20 per individual, range 0 - 55; median size 2.95 kb, range 99 bp - 4.76 Mb) in a heterogeneous cohort of 2,021 individuals with suspected Mendelian disorders, who had undergone exome sequencing using 12 different capture kits in a resource-limited setting. Employing a genomic position loss-count based approach, we filtered 1,224 rare homozygous loss calls in 718 individuals (median count 1 per individual, range 0 - 22; median size 3.49 kb, range 121 bp - 4.76 Mb) for further analysis, thus significantly reducing the analysis burden. Clinical correlation and validation of these rare calls enabled 10 new diagnoses in 240 unsolved individuals with at least one filtered rare homozygous loss call. This, led to nearly two-fold increase in diagnosis owing to homozygous deletions in our cohort. Further analysis of the data and identification of additional affected individuals through collaboration led to identification of biallelic and variants as causes of a syndromic arthrogryposis and a neuromuscular disorder respectively. Both these conditions have been recently proven as ultra-rare recessive disorders, thus validating our approach. We also show that biallelic loss-of-function variants cause chronic kidney disease and variants cause a severe recessive neurodevelopmental disorder characterised by microcephaly, motor delay, agenesis of the corpus callosum, cerebellar atrophy, seizures, hypotonia, spasticity and early death. Overall, these results demonstrate a scalable approach to screen homozygous losses for improving diagnostic yield and discovering disease-genes in large exome cohorts. - Source: PubMed
Publication date: 2026/01/27
Chaurasia AnkurShukla AnjuPande ShrutiPurushothama GreeshmaAshokan Akhil KanathayMajethia PurviKaur NamanpreetUpadhyai PriyankaQuadri NehaBhavani Gandham SriLakshmiNarayanan Dhanya LakshmiNayak Shalini SNampoothiri SheelaSabir Ataf HMohammed Alaa AShaw SophieHartill Verity LWatson Christopher MJohnson Colin AAlshammari AfrahFry Andrew EPoulter James ANewman William GKasher Paul RBanka SiddharthGirisha Katta M - The crosstalk between translation and metabolism is fundamental for cellular plasticity. While most studies focus on translation within canonical coding regions, the roles of non-canonical open reading frames (ORFs) in metabolic regulation and early development remain unclear. Here, we show that selective translation of an upstream ORF in the 5' untranslated region (UTR) of Lin28b produces an 85-amino acid microprotein, PLUM (pluripotency-associated Lin28b uORF-encoded microprotein). Depletion of PLUM leads to deterministic and synchronized (near 100%) induction of naïve pluripotency and causes embryo implantation defects in vivo. Mechanistically, PLUM depletion dissolves L1td1 condensates and enhances L1td1 binding to pluripotency mRNAs such as Tfcp2l1 and Zfp42, stabilizing them and promoting coordinated gene activation. Concurrently, PLUM loss disrupts P-bodies enriched with a subset of nuclear-encoded mitochondrial mRNA, potentially preventing their degradation. Together, these alterations trigger an early burst of mitochondrial oxidative phosphorylation and synchronized naïve gene expression, accelerating acquisition of the naïve state. Our study identifies the novel uORF-encoded microprotein PLUM as a pluripotency determinant integrating RNA regulation and metabolic remodeling. - Source: PubMed
Publication date: 2025/11/26
Hao ZhihongWu YiHuang YileZhang MaoleiLiu YangLi YueqiaoLi WenxinRuan ZifengZhang JianDing YingzheLi LinpengXing GuangsuoLiu ZichaoZhou YanshuangWang QiChen KeshiWang WumingLu GangQin DajiangChan Wai-YeeLiu Xingguo - The network of transcription factors is dynamically reorganized during the transition from naïve- to formative-pluripotency. In mice, Prdm14 is expressed in naïve pluripotent cells but rapidly downregulated upon exit from the naïve state. In contrast, PRDM14 expression persists throughout pluripotency transitions in non-rodent mammals, including pigs and humans. Here, we investigate the molecular mechanisms underlying the rodent-specific expression of Prdm14. Using CRISPR/Cas9-mediated deletions, we demonstrated that POU5F1 and TFCP2L1 recognition sequences within Muroidea-specific cis-regulatory elements located downstream of Prdm14 are essential for its transcriptional upregulation in naïve embryonic stem cells. Loss of these enhancers attenuates the upregulation of Prdm14, leading to reduced Pramel7 induction and impaired degradation of UHRF1, which consequently diminished global DNA demethylation under 2iL conditions. Moreover, deletion of PRDM14-binding motifs in Muroidea-specific enhancers disrupts its negative feedback loop, resulting in a delayed transition from the naïve to formative pluripotent state. Our findings reveal that rodent-specific enhancer insertions endow Prdm14 with a dynamic regulatory architecture, enabling both activation and repression that collectively ensure the timely exit from naïve pluripotency during early embryogenesis. - Source: PubMed
Publication date: 2025/12/19
Matsubara KazumiHirota MasakiKajiwara KentaroSenga HinakoMatsui ShunsukeMarutani MiyuSeki Yoshiyuki - Transcription factor CP2-like protein 1 (Tfcp2l1), a naïve pluripotency transcription factor, is expressed in both early embryonic and adult tissues, where it enforces pluripotency of embryonic stem cells (ESCs) and stemness features of cancer cells, respectively. However, the detailed molecular pathways by which Tfcp2l1 is regulated in early embryonic development and cancer cells remain unknown. Here, we identified the pseudophosphatase dual specificity phosphatase 27 (Dusp27), also known as serine/threonine/tyrosine-interacting like-2, as a novel Tfcp2l1-interacting protein through a sterile alpha motif-like domain in the C-terminus of Tfcp2l1 in murine ESCs. The interaction between Dusp27 and Tfcp2l1 was dependent on the cell cycle status and increased during mitosis. Expression of was upregulated during naïve pluripotency and repressed during spontaneous differentiation of murine ESCs. Ectopic expression of enhanced the transcriptional activity of Tfcp2l1 and promoted features associated with the naïve pluripotent state, while suppressing meso-endodermal lineage differentiation. The present study demonstrates that Dusp27 is a novel positive regulator of Tfcp2l1 through a physical interaction and thereby fine-tunes the pluripotency status and meso-endodermal differentiation of murine ESCs. - Source: PubMed
Publication date: 2025/10/24
Song SujinHeo JinbeomLee SiwonNam Yun JiKim YongHwanJu HyeinKwon HyunguIm Hyun JunHa Seok WooKim Hyun JiLee DabinPark Sang JinSong Sang HoonPark JuhyunJeong Eui ManKim KyunggonShin Dong-MyungLee Seungun - Regulation of cell fate decisions during early embryonic development requires precise temporal and spatial control. The embryonic stem cell (ESC) transcription factor network maintains a delicate balance between self-renewal and differentiation by suppressing lineage-specific transcription while upregulating pluripotency factors. Our previous studies highlighted a critical role for the SET domain-containing protein actin-histidine N-methyltransferase (SETD3) in endoderm differentiation of mouse embryonic stem cells (mESCs). However, its specific functions within the nuclear context remained poorly understood. In this study, we used mass spectrometry to identify nuclear protein partners of SETD3. Our findings revealed that SETD3 interacts with the transcription factor CP2-like protein 1 (TFCP2L1; a pluripotency transcription factor) and bromodomain-containing protein 2 (BRD2) in the nucleus. Notably, our study highlights an essential role of SETD3 in the recruitment of BRD2 to chromatin in mESCs. Through domain deletions and proximity ligation assays, we established that this interaction is dependent on the RSB domain of SETD3 and potentially the BD2 domain of BRD2. The absence of SETD3 led to considerable alterations in the chromatin environment and a significant reduction in BRD2 recruitment, resulting in transcriptional changes. Our findings highlight the significant role of SETD3-dependent BRD2 recruitment in regulating chromatin dynamics and transcriptional outcomes in mESCs, enhancing our understanding of its role in ESC pluripotency exit and lineage commitment. - Source: PubMed
Publication date: 2025/09/13
Sezginmert DersuGuven GozdeAlganatay CerenAk DenizTerzi Cizmecioglu Nihal