Ask about this productRelated genes to: NT5DC1 antibody
- Gene:
- NT5DC1 NIH gene
- Name:
- 5'-nucleotidase domain containing 1
- Previous symbol:
- NT5C2L1
- Synonyms:
- dJ486I3.1, MGC24302
- Chromosome:
- 6q22.1
- Locus Type:
- gene with protein product
- Date approved:
- 2003-06-24
- Date modifiied:
- 2016-10-05
Related products to: NT5DC1 antibody
Related articles to: NT5DC1 antibody
- Aortic aneurysm and dissection (AAD) is a multifaceted condition characterized by significant genetic predisposition and a considerable contribution to cardiovascular-related mortality. Previous studies have suggested that AAD subtypes share similar genetic mechanisms; however, these studies investigated the subtypes separately. Here, we performed a large genome-wide association study (GWAS) meta-analysis for AAD by combining its subtypes, including 11,148 cases and 708,468 controls of European ancestry. We identified 24 susceptibility loci, including four novel loci at 1p21.2 (PALMD), 2p22.2 (CRIM1), 6q22.1 (FRK), and 12q14.3 (HMGA2), which were partially validated in both internal and external populations. Cell type-specific analysis highlighted the artery as the most relevant tissue where the susceptibility variants may exert their effects in a tissue-specific manner. By using four approaches, we prioritized 53 genes, reinforcing the importance of elastic fiber formation and transforming growth factor-beta (TGF-β) signaling in the formation of AAD, and suggested potential target drugs for the treatment. Additionally, various cardiovascular diseases were genetically correlated with AAD, and several cardiovascular risk factors [e.g., body mass index (BMI), lipid levels, and pulse pressure] showed causal associations with AAD, underscoring their shared genetic structures and mechanisms underlying the comorbidity. Moreover, five prioritized genes (PALMD, CRIM1, FRK, HMGA2, and NT5DC1) at the novel loci were supported as regulators of smooth muscle and endothelial cell functions through ex vivo and in vitro experiments. Together, these findings enhance our understanding of the genetic architecture of AAD and provide novel insights into future biological mechanism studies and therapeutic strategies. - Source: PubMed
Du YifanGuan YunlongShao ZhongheJiang MinghuiQu MinghanKong YifanWu HongjiLuo DaPeng ShuLi SiCao XiChen JingYe PingXia JiahongHao Xingjie - 5'-nucleotidases are proteins involved in nucleotide metabolism by dephosphorylating nucleotide monophosphates. A group of four related proteins (NT5DC1-4) has been described and an increasing amount of corresponding data has been published over the last years. Here, we review the current scientific literature on NT5DC proteins, present data on the four proteins, and discuss their potential involvement in cancer and other diseases. It seems that these proteins can have a role in various brain-related diseases, and there is a compelling amount of results showing that in particular NT5DC2 can be considered a drug target in cancer. More work is needed to conclude whether these proteins are involved or not in the nucleotide metabolism and thus potentially in purinergic signaling. - Source: PubMed
Publication date: 2025/02/17
Cros-Perrial EmelineJordheim Lars Petter - Reproductive performance is critical in the pig industry, and improved sow performance could lead to increased economic benefits. GWAS and ROH analyses based on SNP array data were conducted to identify the breed-specific genetic architecture underlying the variation in NBA and TNB. - Source: PubMed
Publication date: 2024/10/31
Mekonnen Kefala TayeLee Dong-HuiCho Young-GyuSon Ah-YeongSeo Kang-Seok - Alzheimer's disease (AD), particularly late-onset Alzheimer's disease (LOAD), is a prevalent form of dementia that significantly affects patients' cognitive and behavioral capacities and longevity. Although approximately 70 genetic risk factors linked with AD have been identified, their influence on patient longevity remains unclear. Further, recent studies have associated copy number variations (CNVs) with the longevity of healthy individuals and immune-related pathways in AD patients. This study aims to investigate the role of CNVs on the longevity of AD patients by integrating the Whole Genome Sequencing (WGS) and transcriptomics data from the Religious Orders Study/Memory and Aging Project (ROSMAP) cohort through causality network inference. Our comprehensive analysis led to the construction of a CNV-Gene-Age of Death (AOD) causality network. We successfully identified three key CNVs (DEL5006, mCNV14192, and DUP42180) and seven AD-longevity causal genes (, , , , , , and ) impacting AD patient longevity, independent of disease severity. This outcome emphasizes the potential role of plasminogen activation and chemotaxis in longevity. We propose several hypotheses regarding the role of identified CNVs and the plasminogen system on patient longevity. However, experimental validation is required to further corroborate these findings and uncover precise mechanisms. Despite these limitations, our study offers promising insights into the genetic influence on AD patient longevity and contributes to paving the way for potential therapeutic interventions. - Source: PubMed
Publication date: 2023/11/02
Hao YananLi ChuhaoWang HeMing Chen - Pancreatic adenocarcinoma (PAAD) is a malignant tumor with high morbidity and mortality rates. The NT5DC family is an evolutionarily-conserved family of 5'-nucleosidases that catalyze the intracellular hydrolysis of nucleotides. Although the NT5DC family has been linked to the initiation and growth of several cancers, its function in PAAD remains unclear. A series of bioinformatic analyses was used to ascertain the expression, prognosis, gene changes, functional enrichment, and immune regulatory functions of the NT5DC family in PAAD. NT5C2 and NT5DC1/2 mRNA and protein levels are increased in PAAD. Furthermore, the high mRNA expressions of NT5C2, NT5DC2, and NT5DC4 indicate a poor prognosis in patients with PAAD. The enrichment of biological processes and gene expression in the NT5DC family in PAAD were investigated using Kyoto Encyclopedia of Genes and Genomes and Gene Ontology analyses. Further investigations into immune infiltration revealed a close relationship between NT5DC gene expression and immune cell infiltration. These findings provide new insights into the biological function and prognostic value of the NT5DC gene family in PAAD. - Source: PubMed
Publication date: 2023/07/16
Yu XiaoqianSun RuYang XuejieHe XiaoyunGuo HongbinOu Chunlin