CANT1

更新于：2025-05-07

基本信息

别名

Apyrase homolog、calcium activated nucleotidase 1、CANT1

+ [5]

简介

Calcium-dependent nucleotidase with a preference for UDP. The order of activity with different substrates is UDP > GDP > UTP > GTP. Has very low activity towards ADP and even lower activity towards ATP. Does not hydrolyze AMP and GMP (PubMed:12234496, PubMed:15006348, PubMed:15248776, PubMed:16835225). Involved in proteoglycan synthesis (PubMed:22539336).

关联

100 项与 CANT1 相关的临床结果

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100 项与 CANT1 相关的转化医学

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0 项与 CANT1 相关的专利（医药）

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106

项与 CANT1 相关的文献（医药）

2025-04-01·American Journal of Medical Genetics Part A

From Desbuquois Dysplasia to Multiple Epiphyseal Dysplasia: The Clinical Impact of a CANT1 Variant Across Five Unrelated Families

Article

作者: İmren, Gözde ; Daşar, Tuğba ; Şimşek Kiper, Pelin Özlem ; Utine, Gülen Eda ; Yilmaz, Güney ; Ürel Demir, Gizem

ABSTRACTMultiple epiphyseal dysplasia (MED) is a heterogeneous group of chondrodysplasia characterized by arthralgia, early onset osteoarthropathy, and the radiographic findings of small, flat, and irregular‐shaped epiphyses. Some patients with MED have mild short stature as well. MED is genetically heterogeneous caused by pathogenic variants in COMP, MATN3, COL9A1, COL9A2, COL9A3, and SLC26A2. In 2017, pathogenic variants in CANT1, which are responsible for Desbuquois dysplasia, have also been reported in the genetic etiology of MED. To date, only three patients have been reported with CANT1‐related MED. Herein, we present clinical and radiographic findings of six additional patients from five unrelated families, all sharing the same c.375G > C; p.(Trp125Cys) variant in CANT1 gene. These patients exhibited the features of multiple epiphyseal dysplasia, along with some similarities to Desbuquois dysplasia, thereby broadening the clinical spectrum of CANT1‐related disorders.

2025-04-01·Molecular Biotechnology

WTAP-mediated N6-methyladenine Modification of circEEF2 Promotes Lung Adenocarcinoma Tumorigenesis by Stabilizing CANT1 in an IGF2BP2-dependent Manner

Article

作者: Cao, Zhuo ; Lv, Yuankai ; Cai, Xiaoping ; Zheng, Hao

N6-methyladenosine (m6A) is a common posttranscriptional RNA modification and plays an important role in cancer biology. Circular RNAs (circRNAs) are also reported to participate in lung adenocarcinoma (LUAD) progression. Here, we aimed to investigate the functions of Wilms tumor 1-associating protein (WTAP) methyltransferase and circEEF2 in LUAD cell tumorigenesis, and probe whether circEEF2 functioned through WTAP-induced m6A modification and its potential mechanisms. Functional analyses were conducted by tube formation, sphere formation, 5-ethynyl-2'-deoxyuridine (EdU), flow cytometry, and transwell assays in vitro as well as tumor formation experiments in mice, respectively. The N6-methyladenine (m6A) modification in circEEF2 mRNA was determined by RNA immunoprecipitation (Me-RIP) assay. The interaction between IGF2BP2 (Insulin Like Growth Factor 2 MRNA-Binding Protein 2) and circEEF2 or Calcium-activated nucleotidase 1 (CANT1) mRNA was confirmed using RIP assay. LUAD tissues and cells showed high circEEF2 expression, and the deficiency of circEEF2 suppressed LUAD cell angiogenesis, stemness, proliferation, migration, and invasion. WTAP induced circEEF2 m6A modification. WTAP silencing repressed the oncogenic phenotypes of LUAD cells via stabilizing circEEF2 in an m6A-dependent manner. IGF2BP2 interacted with circEEF2 and CANT1, and WTAP and circEEF2 could regulate CANT1 expression through IGF2BP2. The inhibition of LUAD cell oncogenic phenotypes caused by circEEF2 deficiency was abolished by CANT1 overexpression. In addition, WTAP silencing impeded LUAD growth via modulating circEEF2 and CANT1 in vivo. WTAP-mediated m6A modification of circEEF2 promotes lung adenocarcinoma growth and tumorigenesis by stabilizing CANT1 through IGF2BP2.

2025-03-01·Cardiology in the Young

Extremely rare association: Desbuquois dysplasia type 1 with coronary-cameral fistula

Article

作者: Şimşek Kiper, Pelin Özlem ; Aykan, Hayrettin Hakan ; Tanrısever Türk, Merve ; Öztürk, Musa

AbstractPurpose:Desbuquois dysplasia type 1 is a rare autosomal recessive chondrodysplasia characterised by distinct skeletal abnormalities and multisystem involvement, including pulmonary, renal, and ocular abnormalities, has also been reported. Cardiac complications, although infrequently discussed in the literature, include aortopathy and atrioventricular valve prolapse, potentially due to defective proteoglycan production.Case Report:This case report details a 7-year-old male diagnosed with Desbuquois dysplasia type 1 and a coronary-cameral fistula, both of which are exceedingly rare conditions. Genetic analysis revealed a previously reported homozygous pathogenic variant in the calcium-activated nucleotidase 1 gene, ENST00000c.898C>T; p.Arg300Cys. Echocardiographic findings indicated significant cardiac enlargement, mitral valve prolapse, coronary-cameral fistula, pulmonary hypertension, advanced aortic root enlargement and aneurysmatic ascending aorta, and atrial septal defect, necessitating careful clinical management.Conclusion:This case underscores the complexity of Desbuquois dysplasia and its associated cardiac anomalies, highlighting the need for further research into the systemic implications of this disorder. To the best of our knowledge, this case has importance as it is the first of its kind in the literature.

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