ABHD14B
- Known as:
- ABHD14B
- Catalog number:
- 000951A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ABHD14B
Related genes to: ABHD14B
- Gene:
- ABHD14B NIH gene
- Name:
- abhydrolase domain containing 14B
- Previous symbol:
- -
- Synonyms:
- MGC15429, CIB
- Chromosome:
- 3p21.2
- Locus Type:
- gene with protein product
- Date approved:
- 2005-12-22
- Date modifiied:
- 2015-07-16
Related products to: ABHD14B
Related articles to: ABHD14B
- Certain uncharacterized members of the metabolic serine hydrolase enzyme family remain difficult to annotate due to poor tractability, context-dependent expression, and the absence of defined biochemical activities. Here, we provide the first functional characterization of the human enzyme ABHD14A. By engineering a soluble N-terminally truncated variant, we demonstrate by gel-based activity-based protein profiling and p-nitrophenyl-ester hydrolysis assays that ABHD14A is an active enzyme that can turn over short-chain esters. Notably, ABHD14A exhibits a coenzyme A-dependent enhancement of p-nitrophenyl acetate hydrolysis, indicative of a ping-pong type acetyltransferase mechanism similar to that previously described for another homologous ABHD14 enzyme, ABHD14B. To investigate the subcellular localization of ABHD14A, heterologous overexpression of an ABHD14A-GFP fusion variant in HEK293T cells was performed. Here, we found that the ABHD14A-GFP fusion protein is catalytically active and localizes specifically to the Golgi apparatus, suggesting a specialized role in the secretory pathway biology. Together, these findings establish the enzymatic activity, mechanistic features, and subcellular localization of ABHD14A while providing essential biochemical tools that can now enable the systematic discovery of its physiological substrates and regulatory contexts. - Source: PubMed
Gupta SonaliDhaware MahamayaKamat Siddhesh S - Ribosomal DNA copy number (rDNAcn) and DNA methylation are important modulators of the human genome, both studied in relation to overall cellular function, biological ageing, and disease development. Despite the overlapping roles, their relationship remains poorly understood, especially in the early stages of life, characterized by rapid growth and high cellular demands. Even though previous studies have associated rDNA methylation with cancer and ageing, no study to date has examined the interplay between rDNAcn and whole-genome DNA methylation. In an epigenome-wide association study of 45S rDNAcn variation in 194 newborns, we show strong positive associations between rDNAcn and single DNA methylated CpGs, measured with the Illumina EPIC array. Out of the 122 Bonferroni-significant CpGs, 63.5% were also Bonferroni-significant in a replication cohort of 167 newborns, in which a second EWAS was conducted using DNA methylation data from the Illumina 450K array. The identified CpGs were dispersed over the autosomes and were not functionally related to the rDNA-forming nucleolar-associated domains. The top CpGs were annotated to genes (, , , ) that are functionally linked to cancer and cellular proliferation. In downstream analyses, the 122 rDNAcn-related CpGs revealed 31 differentially methylated regions and 253 nominally significant correlations with cord blood gene transcripts in an eQTM analysis. Pathway enrichment analyses showed an overrepresentation of the following pathways: 'RNA Polymerase III transcription' (R-HSA-76071, R-HSA-76046, R-HSA-74158, R-HSA-749476, R-HSA-73780, R-HSA-73980, R-HSA-76066, R-HSA-76061, hsa03020), 'cytosolic sensors of pathogen-associated DNA' (R-HSA-1834949), 'RNA polymerase II transcribes snRNA genes' (R-HSA-6807505), and 'translation initiation' (R-HSA-72613, R-HSA-72737). Our findings reveal a close link between rDNAcn variation and DNA methylation in early life. Disruptions in this interplay may influence cellular functions critical for early development, potentially shaping health and disease trajectories later in life. - Source: PubMed
Publication date: 2026/03/03
Barth KathrinAlfano RossellaPlusquin MichelleWang CongrongNawrot Tim SMartens Dries S - Gout is a systemic metabolic disease with rising prevalence and complex etiology, yet its molecular mechanisms remain incompletely defined. Multi-omics Mendelian randomization (MR) enables causal prioritization of genes implicated in gout. Because the gut microbiota (GM) can modulate urate metabolism and inflammation, integrating microbiome analyses may help nominate potential therapeutic candidates. This study aimed to nominate candidate targets for gout by integrating multi-omics MR, clinical validation, GM analysis, and in-silico druggability assessment. - Source: PubMed
Publication date: 2025/12/20
Zhao YuGao MinWang FanPang LeiLi HaiboLin XiaoshengChen Lihua - The current therapeutic landscape for rosacea is notably deficient in targeted medications, underscoring an urgent need for the identification of novel biomarkers. Utilising a longitudinal cohort of 54 306 individuals from the UK Biobank (UKB), we conducted a comprehensive assessment of the associations between 2923 serum proteins and the risk for rosacea. Our cohort analysis identified 18 proteins significantly associated with rosacea risk. Next, we complemented the two-sample Mendelian randomisation (TSMR) and Mendelian randomisation (SMR) analysis based on pooled data to identify genetic links between protein targets and rosacea. TSMR analysis refined this list to nine proteins demonstrating significant causal relationships with at least one form of rosacea. Further refinement through SMR and differential expression analysis reduced this to five key proteins, including four (ABHD14B, CHMP6, DBNL and MCFD2) that inhibit rosacea onset and one (MSR1) that promotes it. The differential expression of these five biomarkers was validated by multiple omics datasets as well as in vitro experiments. We calculated the protein score based on the expression levels of these proteins, noting that participants with higher scores demonstrated an increased incidence of rosacea. The integrative examination of proteomic and genetic data from a European adult cohort provides robust causal evidence for several proteins as promising new biomarkers for the development of rosacea treatments. - Source: PubMed
Mao RuiWang FanZhang TongtongLi Ji - The long-term goal of chronic hepatitis B research is a functional cure (HBsAg seroclearance). Although currently used nucleos(t)ide analogs can efficiently inhibit viral replication, they do not reduce viral RNAs or proteins produced from covalently closed circular DNA (cccDNA), and rarely achieve a functional cure. To overcome this situation, revealing the mode of the existence of cccDNA is required, including identifying the interreacting proteins with cccDNA. Here, we aimed to identify novel proteins that interact with cccDNA. - Source: PubMed
Publication date: 2025/07/14
Sekiba KazumaMiyake NozomiMiyakawa YuShibata ChikakoSeimiya TakahiroKishikawa TakahiroFujishiro MitsuhiroOtsuka Motoyuki