RABGAP1 antibody
- Known as:
- RABGAP1 (anti-)
- Catalog number:
- orb101211
- Product Quantity:
- EUR
- Category:
- -
- Supplier:
- Biorbyt biorb
- Gene target:
- RABGAP1 antibody
Related genes to: RABGAP1 antibody
- Gene:
- RABGAP1 NIH gene
- Name:
- RAB GTPase activating protein 1
- Previous symbol:
- -
- Synonyms:
- GAPCenA, TBC1D11
- Chromosome:
- 9q33.2-q33.3
- Locus Type:
- gene with protein product
- Date approved:
- 2004-01-12
- Date modifiied:
- 2018-02-13
Related products to: RABGAP1 antibody
Related articles to: RABGAP1 antibody
- A hallmark of Alzheimer's disease (AD) is the accumulation of extracellular amyloid-β plaques in the brain. Amyloid-β is a 40-42 amino acid peptide generated by proteolytic processing of amyloid precursor protein (APP) via membrane-bound proteases. APP is a transmembrane protein, and its trafficking to sites of proteolysis represents a rate-limiting step in AD progression. Although APP processing has been well-studied, its trafficking itinerary and machinery remain incompletely understood. To address this, we performed an unbiased interaction screen for interactors of the APP cytosolic tail. We identified previously characterised APP binders as well as novel interactors, including RABGAP1. We demonstrated that RABGAP1 partially co-localises with APP and directly interacts with a YENPTY motif in the APP cytosolic tail. Depletion or overexpression of RABGAP1 caused mistrafficking and misprocessing of endogenous APP in human and rodent neurons. This effect is dependent on the GAP activity of RABGAP1, demonstrating that RABGAP1 affects the trafficking of APP by modulating RAB activity on endosomal subdomains. This novel trafficking mechanism has implications for other NPXY cargoes and presents a possible therapeutic avenue to explore. - Source: PubMed
Publication date: 2025/08/26
Eden JessicaKaufman Jonathan G GPereira ConceiçãoFox EleanorCattin-Ortolá JeromeBenedetti LorenaNieuwenhuis BartOwen David JLippincott-Schwartz JenniferMunro SeanGershlick David C - The brown seaweed Laminaria digitata, known for its prebiotic qualities, and alginate lyase supplementation, may improve the growth and development of piglets during the critical post-weaning phase. The purpose of this study was to ascertain the effects of 10 % L. digitata and 0.01 % alginate lyase on the proteome and metabolome of the longissimus lumborum muscle in weaned piglets. Findings suggest that the enzyme supplement has a marginal effect on muscle proteome compared to the seaweed diet alone when compared to the control. L. digitata increased the prevalence of proteins related to muscle contraction and structure (such as ACTBL2), while it decreased the presence of glycolytic proteins (like GPI and ALDOC). It also increased the abundance of proteins related to the negative regulation of insulin receptor pathways, such as RABGAP1 and TSC2. Conversely, alginate lyase increased the abundance of proteins associated with fatty acid oxidation (ALOXE3) and calcium balance (WFS1), reflecting the impacts of dietary n-3 polyunsaturated fatty acids and lower calcium in the diet. As for the muscle metabolome, it remained mostly unchanged by dietary treatments, except for mannitol and threonine, which were enriched as a consequence of seaweed inclusion. - Source: PubMed
Publication date: 2025/04/04
Ribeiro David MSacarrão-Birrento LauraLeclercq Céline CCharton Sophie A BCosta Mónica MCarvalho Daniela F PSergeant KjellCocco EmmanuelleRenaut JennyFreire João P BPrates José A Mde Almeida André M - Associations between birth weight and cortical structural phenotypes have been detected; however, the understanding is incomprehensive, and the potential biological bases are not well defined. Leveraging data from genome-wide association studies, we investigated the associations and the shared transcriptomic, proteomic and cellular bases of birth weight and 13 cortical structural phenotypes. Mendelian randomization analyses were performed to examine associations between birth weight and cortical structure. Downstream transcriptome-wide association study (TWAS), proteome-wide association study (PWAS) and summary-based Mendelian randomization (SMR) analyses were utilized to identify the shared cis-regulated gene expressions and proteins. Finally, cell-type expression-specific integration for complex traits (CELLECT) analyses were conducted to explore the enriched cell types. The Mendelian randomization analyses found positive associations between birth weight and global cortical folding index, intrinsic curvature index, local gyrification index, surface area and volume. Downstream transcriptomic-level TWAS and SMR identified three gene expressions both linked to birth weight and at least one cortical structural phenotype (CNNM2, RABGAP1 and CENPW). Parallel PWAS and SMR analyses at the proteomic level identified four proteins linked to both phenotypes (CNNM2, RAB7L1, RAB5B and PPA2), of which CNNM2 was replicated. CELLECT analyses revealed brain cell types enriched in birth weight, including pericytes, inhibitory GABAergic neurons and cerebrovascular cells. These findings support the importance of early life growth to cortical structure, and suggest underlying transcriptomic, proteomic and cellular bases. These results provide intriguing targets for further research into the mechanisms of cortical development. - Source: PubMed
Publication date: 2025/03/05
Zhang LuGe QiaoyueSun ZeyuanZhang RuiLi XinxiLuo XiaoliTian RunCao YuhengPu ChunyanLi LinWu DongshengJiang PingYu ChuanNosarti ChiaraXiao ChenghanLiu Zhenmi - The diagnostic yield of genetic analysis in the evaluation of children with short stature depends on associated clinical characteristics, but the additional effect of parental consanguinity has not been well documented. - Source: PubMed
Publication date: 2024/06/05
Joustra Sjoerd DJoustra Sjoerd DIsik EmregulWit Jan MCatli GonulAnik AhmetHaliloglu BelmaKandemir NurgunOzsu ElifHendriks Yvonne M Cde Bruin ChristiaanKant Sarina GCampos-Barros AngelChallis Rachel CParry DavidHarley Margaret EJackson AndrewLosekoot Moniquevan Duyvenvoorde Hermine A - Non-alcoholic fatty liver disease (NAFLD) comprises a range of chronic liver diseases that result from the accumulation of excess triglycerides in the liver, and which, in its early phases, is categorized NAFLD, or hepato-steatosis with pure fatty liver. The mortality rate of non-alcoholic steatohepatitis (NASH) is more than NAFLD; therefore, diagnosing the disease in its early stages may decrease liver damage and increase the survival rate. In the current study, we screened the gene expression data of NAFLD patients and control samples from the public dataset GEO to detect DEGs. Then, the correlation betweenbetween the top selected DEGs and clinical data was evaluated. In the present study, two GEO datasets (GSE48452, GSE126848) were downloaded. The dysregulated expressed genes (DEGs) were identified by machine learning methods (Penalize regression models). Then, the shared DEGs between the two training datasets were validated using validation datasets. ROC-curve analysis was used to identify diagnostic markers. R software analyzed the interactions between DEGs, clinical data, and fatty liver. Ten novel genes, including ABCF1, SART3, APC5, NONO, KAT7, ZPR1, RABGAP1, SLC7A8, SPAG9, and KAT6A were found to have a differential expression between NAFLD and healthy individuals. Based on validation results and ROC analysis, NR4A2 and IGFBP1b were identified as diagnostic markers. These key genes may be predictive markers for the development of fatty liver. It is recommended that these key genes are assessed further as possible predictive markers during the development of fatty liver. - Source: PubMed
Publication date: 2023/11/22
Nazari ElhamKhalili-Tanha GhazalehAsadnia AlirezaPourali GhazalehMaftooh MinaKhazaei MajidNasiri MohammadrezaHassanian Seyed MahdiGhayour-Mobarhan MajidFerns Gordon AKiani Mohammad AliAvan Amir