C1orf57
- Known as:
- C1orf57
- Catalog number:
- 002779A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- C1orf57
Related genes to: C1orf57
- Gene:
- NTPCR NIH gene
- Name:
- nucleoside-triphosphatase, cancer-related
- Previous symbol:
- C1orf57
- Synonyms:
- MGC13186, HCR-NTPase, THEP1
- Chromosome:
- 1q42.2
- Locus Type:
- gene with protein product
- Date approved:
- 2005-05-10
- Date modifiied:
- 2018-12-20
Related products to: C1orf57
Related articles to: C1orf57
- This report aimed to describe two families of Mennonite heritage affected with hypophosphatasia (HPP) and biallelic c.1001G>A/c.571G>A in four individuals. Additionally, we conduct a systematic review of studies considering the above compound heterozygous genotype and present novel insights and evidence inferred from in silico predictions using Ensembl's Variant Effect Predictor (VEP) platform and STRING protein-protein interaction (PPI) network analysis to explore these genetic variations and plausible interacting pathways for the disorder that remain for consideration in future studies. Intrafamilial and interfamilial variability of phenotypes was observed in the four patients affected with the identical c.1001G>A/c.571G>A mutation. In contrast, in the seven unaffected family members, a specific genotype was not available. Seven eligible studies exploring c.1001G>A/c.571G>A were identified, and significant heterogeneity ( < 0.05) was observed across four studies. Ensembl VEP inferred a dual effect for rs121918007 and rs121918009, involving 17 variants located in the exome and four classified as non-coding associated with all HPP presentations, as well as serum alkaline phosphatase levels, choline phosphate levels, osteogenesis imperfecta, and inborn genetic diseases. PPI network modeling predicted 10 genes () interacting with , highlighting their potential impact on bone formation and homeostasis, metabolism, and gene expression. These results may shed light on HPP variability by disrupting key metabolic and transcriptional pathways and provide a comprehensive view of their functional relevance, which suggests a complex genetic etiology for HPP. - Source: PubMed
Publication date: 2025/09/24
Salinas-Torres Víctor MSalinas-Torres Rafael AVelarde-Felix Jesús SRufino-Serralde YuririaRoeniger-Desatnik AntjeVillagrán-Luján Manuel AMata-Martínez Ana BRamírez-Zenteno Jorge - Accumulating evidence highlights the important role of B vitamins in maintaining the balance of gut microbial ecology and metabolism, however, few studies have focused on changes in B vitamins homeostasis in the gut and their associations with disease. This study aims to investigate the potential interplay between B vitamins, gut microbiota, and obesity. - Source: PubMed
Publication date: 2025/06/17
Xia YuLu LongyaWang LuluQiu YanyanLiu XingyinGe Weihong - Intraductal papillary mucinous neoplasm (IPMN) is the most common type of pancreatic cyst often incidentally detected in asymptomatic patients. The current consensus guidelines, largely based on imaging features, have high sensitivity but low specificity in differentiating benign from malignant IPMNs, leading to unnecessary surgeries. Discovering biomarkers is thus warranted to improve the preoperative risk stratification of IPMN. Pancreatic cyst fluid samples were obtained from patients with pathologically confirmed low-grade (n = 73) or high-grade/invasive (n = 18) IPMN. Global proteome quantitation was performed using liquid chromatography-tandem mass spectrometry. Differentially expressed proteins (DEPs) between the two groups were analyzed using Wilcoxon rank-sum test. 152 upregulated and 74 downregulated DEPs were discovered by comparing low-grade IPMN with high-grade/invasive IPMN (all p < 0.05). The enriched upstream regulators of these DEPs included let-7, miR-122, IL15, and FLT1 (p = 6.76 × 10 - 5.97 × 10). Five discriminatory biomarkers with the largest LASSO coefficients and each with AUCs of >0.75 (FAHD2A, TCEAL3, TWF1, MMUT, and NTPCR) were identified. The combined five-protein model achieved a bootstrap-corrected AUC of 0.94. A combined analysis of TCGA and GTEx databases showed TWF1 overexpression in pancreatic cancer (p = 2.22 × 10) that was associated with poor prognosis (p = 0.0063). The present study identified several cyst fluid proteins (particularly TWF1) that are predictive of malignant pancreatic cyst lesions. If validated in other patient populations, these biomarkers may enhance the accuracy of the preoperative detection of high-risk IPMN and thereby improve patient outcomes. - Source: PubMed
Publication date: 2025/04/27
Liu ChunliangMosley AmberIrajizad EhsanYip-Schneider MicheleWu HuangbingSmith-Kinnaman Whitney RTran ThoaLong James PDo Kim-AnhFahrmann JohannesDeWitt John MHanash SamirSchmidt C MaxZhang Jianjun - Although seminal plasma extracellular vesicles (SPEVs) play important roles in sperm function, little is known about their metabolite compositions and roles in sperm motility. Here, we performed metabolomics and proteomics analysis of boar SPEVs with high or low sperm motility to investigate specific biomarkers affecting sperm motility. In total, 140 proteins and 32 metabolites were obtained through differentially expressed analysis and weighted gene coexpression network analysis (WGCNA). Seven differentially expressed proteins (DEPs) (ADIRF, EPS8L1, PRCP, CD81, PTPRD, CSK, LOC100736569) and six differentially expressed metabolites (DEMs) (adenosine, beclomethasone, 1,2-benzenedicarboxylic acid, urea, 1-methyl-l-histidine, and palmitic acid) were also identified in WGCNA significant modules. Joint pathway analysis revealed that three DEPs (GART, ADCY7, and NTPCR) and two DEMs (urea and adenosine) were involved in purine metabolism. Our results suggested that there was significant correlation between proteins and metabolites, such as IL4I1 and urea ( = 0.86). Furthermore, we detected the expression level of GART, ADCY7, and CDC42 in sperm of two groups, which further verified the experimental results. This study revealed that several proteins and metabolites in SPEVs play important roles in sperm motility. Our results offered new insights into the complex mechanism of sperm motility and identified potential biomarkers for male reproductive diseases. - Source: PubMed
Publication date: 2024/07/27
Zhang YuDing NingCao JinkangZhang JingLiu JianfengZhang ChunJiang Li - Meat color traits directly influence consumer acceptability and purchasing decisions. Nevertheless, there is a paucity of comprehensive investigation into the genetic mechanisms underlying meat color traits in pigs. Utilizing genome-wide association studies (GWAS) on five meat color traits and the detection of selection signatures in pig breeds exhibiting distinct meat color characteristics, we identified a promising candidate SNP, 6_69103754, exhibiting varying allele frequencies among pigs with different meat color characteristics. This SNP has the potential to affect the redness and chroma index values of pork. Moreover, transcriptome-wide association studies (TWAS) analysis revealed the expression of candidate genes associated with meat color traits in specific tissues. Notably, the largest number of candidate genes were observed from transcripts derived from adipose, liver, lung, spleen tissues, and macrophage cell type, indicating their crucial role in meat color development. Several shared genes associated with redness, yellowness, and chroma indices traits were identified, including in adipose tissue, and in liver tissue, and in lung tissue, and , , , , and in spleen tissue. Furthermore, single-cell enrichment analysis revealed a significant association between the immune system and meat color. This finding underscores the significance of the immune system associated with meat color. Overall, our study provides a comprehensive analysis of the genetic mechanisms underlying meat color traits, offering valuable insights for future breeding efforts aimed at improving meat quality. - Source: PubMed
Publication date: 2024/03/26
Liu ChengChen ZitaoZhang ZheWang ZhenGuo XiaolingPan YuchunWang Qishan