BLOC1S1 Antibody - N-terminal region (ARP38042_P050)
- Known as:
- BLOC1S1 Antibody - N-terminal region (ARP38042_P050)
- Catalog number:
- arp38042_p050
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- BLOC1S1 Antibody - N-terminal region (ARP38042_P050)
Related genes to: BLOC1S1 Antibody - N-terminal region (ARP38042_P050)
- Gene:
- BLOC1S1 NIH gene
- Name:
- biogenesis of lysosomal organelles complex 1 subunit 1
- Previous symbol:
- GCN5L1
- Synonyms:
- BLOS1, BORCS1
- Chromosome:
- 12q13.2
- Locus Type:
- gene with protein product
- Date approved:
- 1995-11-15
- Date modifiied:
- 2016-10-05
Related products to: BLOC1S1 Antibody - N-terminal region (ARP38042_P050)
Related articles to: BLOC1S1 Antibody - N-terminal region (ARP38042_P050)
- Although the endolysosome system is central to intracellular recycling, signal transduction, and intercellular communication via exocytosis, its role in immunoregulation remains incompletely defined. We recently identified that CD4+ T cell-specific depletion of BLOC1S1, a component of multiprotein complexes regulating endolysosomal biology, predisposes toward type 2 (Th2) immunity. We therefore hypothesized that the study of BLOC1S1-deficient CD4+ T cells would expand our understanding of endolysosomal dynamics in Th2 function. Here, we demonstrate that CD4+ T cell BLOC1S1 deficiency resulted in aberrant lysosomal distribution, accumulation of endosomal vesicles, and increased exocytosis, which collectively correlated with enhanced Th2 immune responses. The phenotype was associated with upregulation of key components of the exocytosis machinery, including RAB11 and VAMP7. Functional inhibition of these vesicle trafficking proteins following siRNA knockdown of RAB11 and VAMP7 significantly attenuated Th2 cytokine secretion in BLOC1S1-deficient CD4+ T cells, highlighting their essential role in exosome-mediated cytokine export. Furthermore, exosomes derived from BLOC1S1-deficient CD4+ T cells promoted Th2 polarization in recipient cells, indicating a mechanism of intracellular amplification. Together, these findings identify BLOC1S1 as a critical regulator of lysosomal dynamics and exocytic vesicle fusion, thereby linking intracellular trafficking mechanisms to Th2 immune regulation. - Source: PubMed
Publication date: 2026/05/18
Sharma RahulSyed Zulfeqhar AVishwakarma Sandeep KWu KaiyuanHan KimGupta Anand KCombs Christian ASack Michael N - Biogenesis of lysosome-related organelles complex 1 subunit 1 (BLOC1S1, also known as BLOS1) is a key gene involved in phagosome-lysosome maturation, transport, and autophagosome fusion, and it plays a crucial role in host resistance to Brucella infection. This study aimed to examine the effects of BLOS1 overexpression (oeBLOS1) on the stress response of goat macrophages and on intestinal microbiota composition. Peripheral blood mononuclear cells (PBMCs) were isolated from oeBLOS1 and wild-type (WT) goats and differentiated into macrophages. These macrophages were then stimulated with Brucella LPS to assess cytokine secretion and autophagy levels. Metagenomic sequencing was also performed to analyze the structural and functional profiles of the rectal fecal microbiota in these goats. After Brucella LPS stimulation, oeBLOS1 goat macrophages rapidly activated the NF-κB and TLR4 signaling pathways, promoting the synthesis and secretion of cytokines such as TNF-α (P < 0.05). Brucella LPS challenge also significantly increased the transcription of autophagy-related genes such as LAMP2 and BECN1, enhancing autophagic activity and bacterial clearance (P < 0.05). Furthermore, oeBLOS1 altered the intestinal microbiota, significantly enriching pathways linked to membrane transport and cell motility, and reducing the abundance of virulence factors and opportunistic pathogens, which may contribute to intestinal immune homeostasis. In summary, oeBLOS1 may help counteract Brucella LPS-induced infection by promoting the immune response, enhancing autophagy. In addition, it is associated with remodeling gut microbial function, suggesting a potential role in disease resistance. - Source: PubMed
Publication date: 2026/05/20
Wang CongliangLiu XiaoyuWan ShichengXie FangdeDai JianqiChen WenboQu LeiZhang LeiLi NaDu XiaominZhu HaijingHua Jinlian - The multicomponent Petasis boron-Mannich reaction (PR) enables the generation of functionalized amines that are of biological interest. Here, we demonstrated that a series of pyrazolylpyrimidinamines decorated via PR are new small-molecule activators of the dual kinase and ribonuclease RNA-degrading protein inositol-requiring enzyme 1α (IRE1α), which is an essential effector in the unfolded protein response associated with many human diseases. Compound SH4 was identified via a FRET assay and showed potent activity in activating the IRE1α ribonuclease (RNase) activity, inducing increased mRNA splicing, and inducing mRNA degradation. Based on a binding mode analysis, the following series of PR-decorated functionalized amines was further probed as IRE1α RNase activators. One PR-derived compound, AK177, showed nanomolar activating potency in biochemical assays but minimal activities in cellular evaluations. Overall, we present here a series of pyrazolylpyrimidinamines as new small-molecule activators of the IRE1α RNase activity, which served as the first examples of applying PR in accessing bioactive compounds targeting the kinase domain of a ribonuclease involved in mRNA cleavage and splicing. - Source: PubMed
Publication date: 2026/02/27
Avathan Veettil Amrutha KLiu YangWagner LeonHastürk OguzHuynh Nguyen Song ThuMancino GiorgiaBeerbaum MariaWu Peng - Septic shock (SS), the most severe stage of sepsis, has a high mortality rate. Mitochondria-mediated programmed cell death (MPCD) plays a key role in SS pathogenesis, but its diagnostic value remains unclear. This study integrated the Gene Expression Omnibus (GEO) public dataset and used the weighted gene coexpression network analysis (WGCNA) method to identify gene modules significantly associated with SS and intersected them with MPCD-related genes to obtain the SS-MPCD gene set. Least absolute shrinkage and selection operator (LASSO) regression and Boruta algorithms screened key genes, with their diagnostic performance verified in an independent queue. Through single-cell transcriptome analysis, immune infiltration score (ssGSEA), and regulatory network construction [transcription factor {TF} microRNA {miRNA}, and protein-protein interaction {PPI}], the immune regulatory characteristics of candidate genes were systematically analyzed. Clinical blood samples were collected, and the expression levels of candidate genes were validated through quantitative real-time polymerase chain reaction (qRT-PCR). Finally, the cecal ligation and puncture (CLP)-induced SS mouse model was used for ACSL1 intervention, and its functional effects were evaluated by survival analysis, hematoxylin and eosin (H&E), qRT-PCR, Western blot (WB), and immunofluorescence (IF). Four diagnostic genes were identified: ACSL1, BLOC1S1, SPTLC2, and TSPO. They were upregulated in SS patients and clinical samples, showed immune cell-specific expression, and were regulated by specific miRNAs/TFs. Immune profiling revealed a neutrophil- and Treg-dominated microenvironment. Inhibiting ACSL1 improved survival, reduced organ damage and inflammation, decreased apoptosis markers, and suppressed neutrophil/Treg infiltration. The study systematically identifies and preliminarily validates 4 MPCD-related diagnostic genes, offering insights into SS pathogenesis and potential early diagnosis. - Source: PubMed
Yu DiLai ZhongbinXia JingzhaoHuang QunZhang Jin'erHe Shaoyi - BLOC1S1 encodes a subunit shared by the BLOC-1 and BLOC-one-related complex (BORC) hetero-octameric complexes that regulate various endolysosomal processes. Here, we report the identification of seven distinct variants in BLOC1S1 in 11 individuals from seven independent families presenting with early psychomotor delay, hypotonia, spasticity, epileptic encephalopathy, optic atrophy, and leuko-axonopathy with hypomyelination. A subset of the affected individuals also have features of hypopigmentation and ocular albinism that are similar, although milder, than those of individuals with BLOC-1-related Hermansky-Pudlak syndrome. Functional analyses show that BLOC1S1 knockout (KO) impairs the anterograde transport of lysosomes and autophagy in both non-neuronal cells and induced pluripotent stem cell (iPSC)-derived neurons. Transfection experiments reveal that most BLOC1S1 variants exhibit reduced expression, decreased assembly with other BORC/BLOC-1 subunits, and/or impaired restoration of lysosome transport and autophagy in BLOC1S1-KO cells. Additionally, we show that KO of BLOC1S1 reduces pigmentation in a melanocytic cell line and that five of the BLOC1S1 variants partially or fully restore pigmentation. These findings provide genetic, clinical, and functional evidence that loss of function (LoF) of BLOC1S1 leads to more pronounced deficits in BORC than BLOC-1 function. We conclude that the bi-allelic BLOC1S1 variants characterized here primarily result in a neurological disorder with prominent leukodystrophy, similar to the recently reported condition caused by variants in the BORCS8 subunit of BORC. Together, these findings establish BORCopathies as a distinct disease entity. - Source: PubMed
Publication date: 2026/03/25
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