Ask about this productRelated genes to: EXOC1 Blocking Peptide
- Gene:
- EXOC1 NIH gene
- Name:
- exocyst complex component 1
- Previous symbol:
- SEC3L1
- Synonyms:
- SEC3, FLJ10893, BM-102, Sec3p
- Chromosome:
- 4q12
- Locus Type:
- gene with protein product
- Date approved:
- 2004-01-08
- Date modifiied:
- 2015-08-25
Related products to: EXOC1 Blocking Peptide
Related articles to: EXOC1 Blocking Peptide
- Tourette syndrome (TS) is a highly heritable childhood-onset neuropsychiatric disorder characterized by persistent motor and vocal tics. While both common and rare variants contribute to TS susceptibility, the role of rare mutations (DNMs) remains incompletely characterized. Here, we report findings from the largest TS whole-exome sequencing study to date, analyzing 1,466 TS trios alongside 6,714 autism spectrum disorder (ASD) trios and 5,880 unaffected sibling controls from the Simons Simplex Collection (SSC) and SPARK cohorts. Leveraging a trio-based design across these cohorts enabled calibrated assessment of DNM burden while controlling for background mutation rates. We observed a significant exome-wide enrichment of protein-truncating DNMs in TS probands, particularly within genes intolerant to loss-of-function variation (pLI ≥ 0.9), with little contribution from damaging missense variants. Notably, TS probands did not exhibit enrichment in previously implicated ASD or developmental delay (DD) genes, but elsewhere in the genome, suggesting a distinct rare variant architecture. Using a Bayesian statistical framework that integrates both and rare inherited coding variants, we identified three candidate TS risk genes with FDR ≤ 0.05: , , and . Literature shows that they have prior links to neurodevelopmental and psychiatric disorders. These findings reveal a rare variant burden in TS that is genetically distinguishable from ASD, underscore the importance of loss-of-function mutations in TS risk, and nominate novel candidate genes for future functional investigation. - Source: PubMed
Publication date: 2025/11/05
Zhan LingyuYu DongmeiIvankovic FranjoNiarchou MariaDomenech-Salgado LauraBarr Cathy LBenarroch FortuBudman Cathy LCath Danielle CFreimer Nelson BGarrido HelenaGrados Marco AGross-Tsur VardaHerrera-Amighetti LuisKing Robert AKurlan RogerLeckman James FLyon Gholson JMcMahon William MPauls David LPollak YehudaRobertson Mary MRomero RoxanaRouleau Guy ASandor PaulSinger Harvey SGiusti-Rodriguez PaolaDavis Lea KMathews Carol AScharf Jeremiah MOphoff Roel A - The present study was undertaken to elucidate the population structure and differentiation of Indian yak from Chinese and wild cohorts on genome-wide scale by identifying the selection sweeps and genomic basis of their adaptation across different comparisons while analyzing whole genome sequencing (WGS) data using latest bioinformatics tools. The study included 105 individuals from three distinct yak populations i.e., Indian yak (n = 29); Chinese yak (n = 61) and wild yak (n = 15), hypothesized to be related along the evolutionary timescale. Efficient variant calling and quality control in GATK and PLINK programs resulted in around 1 million (1,002,970) high-quality (LD-independent) SNPs with an average genotyping rate of 96.55%. The PCA, ADMIXTURE and TREEMIX analysis revealed stratification of the yak groups into three distinct clusters. The empirical distribution pattern of minor allele frequency (MAF) of SNPs on genome-wide scale was also elucidated for three yak cohorts revealing unique distribution across five different bins. The selection signature analysis revealed candidate genes that are important for the adaptation of Indian yak against harsh environmental conditions in their habitats. Under iHS analysis, several genes were identified to be under selection pressure in Indian yak including ABCA12, EXOC1, JUNB, KLF1, PRDX2, NANOS3, RFX1, RFX2, and CACNG7. On the other hand, across population analysis revealed the genes like NR2F2, OSBPL10, CIDEC, WFIKKN2, ADCY, THSD7A, ADGRB3, TRPC1, VASH2, and ABHD5 to be part of selective sweeps under these comparisons. A total of 53 genes were found common between intra- and inter-population selection signature analysis of Indian yak. Notably, the genes harbouring the SNPs under selection pressure were significant for adaptation traits including lipidogenesis, energy metabolism, thermogenesis, hair follicle formation, oxidation-reduction reactions, hypoxia and reproduction. These genes may be evaluated as candidate genes for livestock adaptation to harsh environmental conditions and to further the research and application in the present era of climate change. - Source: PubMed
Publication date: 2025/03/03
Ahmad Sheikh FirdousGangwar MunishKumar AmitKumar AmodDige Mahesh ShivanandJha Girish KumarGaur Gyanendra KumarDutt Triveni - A limited number of female germ cells support reproduction in many mammals. The follicle, composed of oocytes and supporting granulosa cells, forms the basis of oogenesis. Crosstalk between oocytes and granulosa cells is essential for the formation, dormancy, re-awakening, and maturation of oocytes. The oocyte expresses c-KIT and growth differentiation factor-9 (GDF-9), which are major factors in this crosstalk. The downstream signalling pathways of c-KIT and GDF-9 have been well-documented; however, their intra-oocyte trafficking pathway remains unclear. Our study reveals that the exocyst complex, a heterotetrameric protein complex important for tethering in vesicular transport, is important for proper intra-oocyte trafficking of c-KIT and GDF9 in mice. We found that depletion of oocyte-specific EXOC1, a component of the exocyst complex, impaired oocyte re-awakening and cyst breakdown, and inhibited granulosa cell proliferation during follicle growth. The c-KIT receptor is localised on the oocyte plasma membrane. The oocyte-specific Kit conditional knockout mice were reported to exhibit impaired oocyte re-awakening and reduced oocyte cyst breakdown. GDF9 is a protein secreted extracellularly in the oocyte. Previous studies have shown that Gdf9 knockout mice impaired proliferation and granulosa cell multilayering in growing follicles. We found that both c-KIT and GDF9 abnormally stuck in the EXOC1-depleted oocyte cytoplasm. These abnormal phenotypes were also observed in oocytes depleted of exocyst complex members EXOC3 and EXOC7. These results clearly show that the exocyst complex is essential for proper intra-oocyte trafficking of c-KIT and GDF9. Inhibition of this complex causes complete loss of female fertility in mice. Our findings build a platform for research related to trafficking mechanisms of vital crosstalk factors for oogenesis. - Source: PubMed
Publication date: 2025/01/20
Nguyen Chi Lieu KimKuba YumenoLe Hoai ThuShawki Hossam HassanMikami NatsukiAoki MadokaYasuhara NanakoSuzuki HayateMizuno-Iijima SaoriAyabe ShinyaOsawa YukiFujiyama TomoyukiDinh Tra Thi HuongIshida MiyukiDaitoku YokoTanimoto YokoMurata KazuyaKang WoojinEma MasatsuguHirao YujiOgura AtsuoTakahashi SatoruSugiyama FumihiroMizuno Seiya - Pancreatic cancer is an aggressive cancer with silent symptoms and high mortality with less than 11% of the 5-year survival rate. Until now, the significance of genes as clinical biomarkers in the early stages of pancreatic cancer has not been fully understood. Hence, this study aims to reveal the significant genes in the early stages of pancreatic cancer using bioinformatic analysis and experiments, and to serve as clinical biomarkers for early detection. We used Cancer RNA-Seq Nexus database and identified one tumor suppressor gene (NAGK), and five oncogenes (FXYD3, ACTR1A, B3GNT3, SIGIRR, and EXOC1) that are significant in the early stages of pancreatic cancer. The expression of NAGK, FXYD3, ACTR1A, B3GNT3, SIGIRR, and EXOC1 were determined from the GEPIA, UALCAN, and HPA database. It has been shown that pancreatic cancer tumor dissemination is an event that can occur in early lesions, rather than being solely restricted in the developed primary tumor. Thus, the six hub genes that were differentially expressed between stage I and stage II of primary pancreatic cancer tumors were compared to metastasis-related genes (1938 genes) in the human cancer metastasis database (HCMDB), yielding two overlapped genes (B3GNT3 and FXYD3). To establish the expression correlation between these two specific genes with metastatic characteristics of the early stage of pancreatic cancer and migratory ability in pancreatic cancer cell lines, the expression patterns of B3GNT3 and FXYD3 were examined in four different migratory abilities of pancreatic cancer cell lines, including HPAC, BxPC-3, AsPC-1, and PANC-1, as well as the normal pancreatic duct epithelial cell line HPDE6-C7. The results displayed that the expression of the FXYD3 gene was dramatically increased with the migratory ability enhanced of four pancreatic cancer cell lines. Thus, in the follow-up study, we will demonstrate the functional role of FXYD3 in pancreatic cancer tumorigenesis. This study revealed that the FXYD3 may act as a significant oncogene in the early stage of pancreatic cancer. - Source: PubMed
Publication date: 2024/09/15
Yee Ke XinLee Yu-ChengNguyen Hieu DucChen Ming-YaoNi Yi-ChunWu Yung-FuLee Kuen-Haur - Expression of major histocompatibility complex I (MHC-I) on tumor cells is extremely important for the antitumor immune response for its essential role in activating various immune cells, including tumor-specific CD8+ T cells. Cancers of lower MHC-I expression commonly exhibit less immune cell infiltration and worse prognosis in clinic. In this study, we conducted bioinformatic-experimental screening to identify potential gene targets to enhance MHC-I expression in breast cancer (BRCA). Through a combination of MHC-I scoring, gene expression correlation analysis, survival prognostication, and Cibersort tumor-infiltrated lymphocytes (TILs) scoring, we identify 144 genes negatively correlated with both MHC-I expression and TILs in breast cancer. Furthermore, we verified partially according to KEGG functional enrichment or gene-dependency analysis and figured out multiple genes, including , , , , , and , as effective gene targets for increasing MHC-I expression in breast cancer. Mechanistically, knockout of each of these genes activated the intrinsic interferon response in breast cancer cells, which not only promoted MHC-I expression but also caused immunogenic cell death of breast cancer. Finally, the scRNA-seq confirmed the negative correlation of PIP5K1A et al. with TILs in breast cancer patients. Collectively, we identified multiple gene targets for an increase in MHC-I expression in breast cancer in this study. - Source: PubMed
Publication date: 2024/09/30
Li XinRuan ZilunYang ShuzhenYang QingLi JinpengHu Mingming