Ask about this productRelated genes to: CANT1 Blocking Peptide
- Gene:
- CANT1 NIH gene
- Name:
- calcium activated nucleotidase 1
- Previous symbol:
- -
- Synonyms:
- SHAPY, SCAN-1
- Chromosome:
- 17q25.3
- Locus Type:
- gene with protein product
- Date approved:
- 2004-02-17
- Date modifiied:
- 2018-04-09
Related products to: CANT1 Blocking Peptide
Related articles to: CANT1 Blocking Peptide
- Mutations in a specific protein called calcium-activated nucleotidase 1 (Cant1) cause skeletal deformities, but the role of Cant1 in these deformities remains unclear. This study shows how Cant1 acts as a key regulator of bone and cartilage health. We found that Cant1 binds to and stabilizes a protein called Wnt/β-Catenin. Wnt/β-Catenin then enters the cell nucleus to activate specific genes. One of these genes, CHSY1, is turned on to produce building blocks such as collagen and sugars that form the extracellular matrix (ECM), which acts as the scaffolding of cartilage. When Cant1 and Wnt/β-Catenin expression are suppressed, there is a reduction in glycosaminoglycans (GAGs; mucopolysaccharides) and proteoglycans (like ACAN), which create a hydrated, gel-like matrix by binding with hyaluronan and link proteins to make cartilage resistant to compression. Additionally, there is a decrease in the α-1 chain of type II collagen (COL2α1), which forms the structural mesh or framework that gives tissue its tensile strength. In summary, we identified a conserved signaling pathway, the Cant1/β-Catenin/transcription factor 4 (TCF4)-CHSY1 axis, that regulates ECM homeostasis during skeletal development. Dysfunction of this pathway is a core cause of skeletal disorders. These findings not only provide mechanistic insights into human Cant1-related skeletal diseases but also highlight potential new targets for broad-spectrum therapies aimed at correcting deficiencies in ECM biosynthesis. - Source: PubMed
Publication date: 2026/04/01
Li YuanliangYu WenqiLi YingxinLiu KaiXu WenjingLi CongLi YuguLi YingTang ZhaoxinChang Yung-FuLi AoyunZhang Hui - Triple-negative breast cancer (TNBC) is one of the most aggressive breast cancer subtypes, with limited targeted treatment options and poor clinical outcomes. Calcium-activated nucleotidase 1 (CANT1), a calcium dependent enzyme involved in nucleotide metabolism and glycoprotein processing, has attracted limited attention in oncology and its clinical relevance in breast cancer remains unknown. The present study hypothesized that CANT1 expression may carry prognostic information in TNBC and evaluated its association with clinicopathologicalal features and survival. In the present retrospective study, 59 non-metastatic patients with TNBC who underwent curative surgery were included. CANT1 expression was assessed using immunohistochemistry and semiquantitatively scored using an H-score ranging from 1-300. Patients were categorized into three groups according to H-score (H1, 1-100; H2, 101-200; H3, 201-300). Associations between CANT1 expression and clinicopathologicalal variables were analyzed using the χ or Fisher's exact test and survival outcomes were evaluated using the Kaplan-Meier method, log-rank test and Cox proportional hazards model. CANT1 expression was successfully evaluated in all tumors: 15 patients (25.4%) were classified as H1, 29 (49.2%) as H2 and 15 (25.4%) as H3. The median overall survival (OS) for the entire cohort was 40.2 months, with a median follow-up of 48.4 months. Median OS by expression group was 29.2 months in H1, 36.7 months in H2 and not reached in H3 (log-rank P=0.033). In the multivariable analysis, high CANT1 expression (H3 vs. H1) remained independently associated with improved OS (P=0.048; hazard ratio=0.149; 95% CI, 0.031-0.715). To the best of our knowledge, the present study is the first to investigate CANT1 expression in TNBC. High CANT1 expression was significantly assocaited with improved OS, suggesting that CANT1 may serve as a novel prognostic biomarker in TNBC. Further multicenter and mechanistic studies are warranted to clarify its biological role and prognostic utility. - Source: PubMed
Publication date: 2026/03/09
Bayram DoğanÇolak AyselKarabulut ŞefikaÖzsan Çelebi Sema NurHafizoğlu EmreTürkay Duriye ÖzerBal ÖznurAlgin EfnanYücel ŞebnemŞendur Mehmet Ali NahitCivelek BurakUçar Gökhan - - Source: PubMed
Publication date: 2026/03/12
Sai Ramya VKumar SanjayGuddeti ArunHari Kumar K V S - Desbuquois dysplasia Type 1 (DBQD1) is an extremely rare autosomal recessive skeletal dysplasia characterized by severe short stature, joint laxity, distinct facial dysmorphism, and advanced carpotarsal ossification. Here, we report the first Thai patient diagnosed with classical lethal DBQD1. A 38-week male infant presented with multiple dysmorphic features, micromelia, joint dislocations, narrow thorax, and respiratory insufficiency leading to death at seven months of age. Radiographic findings revealed hallmark features, including a "Swedish key" appearance of the proximal femur and characteristic hand and foot anomalies. Whole exome sequencing identified compound heterozygous missense variants of c.505G > (p.Asp169Asn) and c.1028G > (p.Gly343Val) in the gene. The 3D structural modeling revealed that both variants reside in conserved regions, with predicted effects on calcium binding and protein folding, resulting in impaired enzymatic function and proteoglycan synthesis. Genetic counseling was provided to the family, and prenatal or preimplantation genetic diagnosis was discussed as an option for future pregnancies. Our report expands the mutational spectrum of the gene, contributing to a better understanding of DBQD1's clinical and molecular presentation, particularly in Southeast Asian populations. - Source: PubMed
Publication date: 2026/02/09
Thamissarakul SupitchaBoonswang TeeraphornLertsakulbunlue SethapongKhumsui SirilukBoonyawat Boonchai - Breast cancer is a leading global health concern, with lymph node metastasis (LNM) being a key prognostic factor affecting patient outcomes. Glycosylation-related enzymes such as calcium-activated nucleotidase 1 (CANT1) and Beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3) have been implicated in tumour progression, yet their roles in breast cancer, particularly invasive ductal carcinoma (IDC), are not well defined. This study investigates the immunohistochemical expression and correlation of CANT1 and B3GNT3 in IDC and their potential role in predicting LNM and clinical outcomes. - Source: PubMed
Publication date: 2026/01/16
Thabet Dalia MostafaAbu Bakr Al Shaimaa Wagdy Kassem