Ask about this productRelated genes to: POFUT1 antibody
- Gene:
- POFUT1 NIH gene
- Name:
- protein O-fucosyltransferase 1
- Previous symbol:
- -
- Synonyms:
- O-FUT, O-Fuc-T, KIAA0180, FUT12
- Chromosome:
- 20q11.21
- Locus Type:
- gene with protein product
- Date approved:
- 2001-10-29
- Date modifiied:
- 2016-10-05
Related products to: POFUT1 antibody
Related articles to: POFUT1 antibody
- Colorectal cancer (CRC) is one of the most common and deadly cancers worldwide, underscoring the urgent need for novel biomarkers and therapeutic targets. Protein O-fucosyltransferase 1 (POFUT1) is increasingly recognized as an oncogenic driver in CRC, but the upstream regulatory mechanisms responsible for its overexpression remain poorly understood. We implemented an integrative, multi-step bioinformatics framework that combined multiple linear regression with stepwise selection, penalized regression models (LASSO and Elastic Net), Random Forest analysis for non-linear feature evaluation and correlation analysis. Five miRNAs (miR-92b, miR-484, miR-574, miR-642a, miR-3940) showing a consistent inverse association with POFUT1 across these complementary methods, were retained as final candidates. Among them, miR-642a exhibited the strongest negative correlation with POFUT1 and was then chosen to test its impact on POFUT1 expression in colon cancer cell lines. Overexpression of miR-642a-5p, through mimic transfection, significantly reduced POFUT1 transcript levels by approximately 46 % in HCT 116, 50 % in SW480, and 22 % in SW620 cells relative to controls. Dual-luciferase reporter assays confirmed direct binding of miR-642a-5p to two predicted sites within the POFUT1 3'UTR, resulting in a decrease of luciferase activity by 40 or 50 % according to the site. Our study combines bioinformatics screening based on multiple linear regression and machine learning models, with experimental validation, to identify a miRNA related to POFUT1 expression. This approach deserves to be extended to the other candidate miRNAs, which, combined with POFUT1, could serve as a basis for future diagnostic or therapeutic strategies in CRC. - Source: PubMed
Publication date: 2026/09/26
Mazour OumaimaAbabou MounaBadaoui BouabidGermot Agnès - Protein O-fucosyltransferase 1 (POFUT1) has been implicated in several malignancies, but its functional and prognostic significance in glioma remains insufficiently defined. This study evaluated whether POFUT1 expression is associated with glioma progression, patient outcome, and PI3K/AKT pathway activity. - Source: PubMed
Yang KaiJu ChunleiWang YifanGuo AijieYang XiaochenMi YangSu YifeiWang ChunhongJi Hongming - The intestinal microbiota and mucosal barrier are closely intertwined, with mucin O-glycans playing a key role in maintaining intestinal homeostasis. However, how nutrition regulates mucin O-glycans remains poorly understood. This study investigated the regulatory effects of mannooligosaccharides (MOS) on mucin secretion and O-glycan modification in a weaned piglet model. We evaluated the effects of MOS on intestinal morphology, gut microbiota, mucin secretion, and O-glycosylation profiles in weaned piglets. - Source: PubMed
Publication date: 2026/08/24
Liu ShanghangLiu NianQiu YutaoLi HaoZhang FanJiang QianWang JingYin YulongTan BieMa Xiaokang - Mutations in KRT5, POFUT1, POGLUT1, and PSENEN define four genetic subtypes of Dowling-Degos disease (DDD), with varied clinical and histologic expression including those previously reported as Galli-Galli disease. We report a case of DDD3 associated with a novel early nonsense variant in POGLUT1 (c.12G>A; p.Trp4*), representing, to the best of our knowledge, the first documented case in Spain. A 55-year-old man presented with recurrent pruritic erythematous scaly papules on the trunk and hyperkeratotic brown papules on the cervical and thoracic regions. Direct microscopic examination of scales from erythematous lesions revealed yeast cells and short hyphae compatible with Malassezia sp. Initial histopathologic evaluation of a pigmented papule was interpreted as simple lentigo. Subsequent biopsy demonstrated elongated rete ridges and focal suprabasal acantholysis without dyskeratosis, raising suspicion for DDD. Whole-exome sequencing identified a heterozygous nonsense variant in POGLUT1, confirming the diagnosis of DDD3. Previous studies have shown that diffuse cytokeratin 5 (CK5) expression throughout all epidermal layers may support the diagnosis of DDD3. This case highlights diagnostic pitfalls related to subtle and focal acantholysis, emphasizes the importance of clinicopathologic correlation and serial sectioning. - Source: PubMed
Publication date: 2026/05/27
González Fernández JoséGarcía García MarLarrosa Martínez DiegoAra Martín Marianode la Fuente Meira SoniaPrieto Torres Lucía - Identifying biological roles for glycosyltransferases is a continuing challenge and important for defining morbidities associated with congenital disorders of glycosylation. Here we investigate the consequences to intestinal development of conditionally deleting Lfng alone or Lfng, Mfng and Rfng together in a mixed or Eogt-null genetic background. Each Fringe transfers N-acetylglucosamine (GlcNAc) to fucose (Fuc) attached to Ser or Thr by POFUT1 in a consensus sequence found in certain epithelial growth factor-like (EGF) repeats. EOGT transfers GlcNAc directly to Ser/Thr in a separate consensus sequence of an EGF repeat. Notch receptors and Notch ligands contain the largest number of EGF repeats with consensus sites for these O-glycans. Conditional deletion of Pofut1 in mouse intestine causes similar developmental defects to deletion of Notch1 and Notch2 or Dll1 and Dll4. LFNG also contributes to optimal Notch signaling in mouse intestine. In this work, we generated Lfng[F/F]:Villin-Cre and Lfng[F/F]Mfng[-/-]Rfng[-/-]:Villin-Cre mice in which extension of O-Fuc on EGF repeats was respectively inhibited or prevented in intestinal epithelium. Conditional deletion of either Lfng alone or all three Fringe activities together led to defective intestinal development with a marked increase in goblet and Paneth cells, increased crypt width and reduced villus length. Unexpectedly, in mice globally lacking EOGT, conditional inactivation of the three Fringe genes did not lead to defective intestinal development. Thus, the absence of EOGT prevented disruption of development in Fringe-null intestine, identifying a novel role for EOGT in regulating intestinal development. - Source: PubMed
Publication date: 2026/06/09
Nauman MohdZhang JinghangStanley Pamela