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Target intelligence / Profile preview
Soluble calcium-activated nucleotidase 1 (CANT1)
- Target
- CANT1
- Molecular classification
- Enzyme, Apyrase family, Nucleotidase, Acid anhydride hydrolase
01
Overview
Soluble calcium-activated nucleotidase 1 (CANT1) is a calcium-dependent enzyme belonging to the apyrase family, primarily hydrolyzing UDP and GDP, and crucial for glycosaminoglycan and proteoglycan biosynthesis in cartilage and endochondral ossification. Mutations are linked to chondrodysplasias including Desbuquois dysplasia type 1, characterized by specific skeletal and cartilage defects with abnormal growth plate regulation. CANT1 localizes to the ER/Golgi, and its activity influences both intracellular secretory processes and the properties of the extracellular matrix in developing bone and cartilage. No targeted drugs currently exist, but its disease relevance makes it a key research target in skeletal pathologies.
- Other names
- SCAN-1SHAPYDBQDDBQD1EDM7Putative MAPK-activating protein PM09Putative NF-kappa-B-activating protein 107Apyrase 1 homolog (C. lectularius)Soluble Ca-activated nucleotidase, isozyme 1Calcium activated nucleotidase 1
02
Mechanism of action
Not applicable; if targeted, mechanisms would likely involve inhibition or modulation of nucleotidase activity to restore proteoglycan biosynthesis or ER/Golgi function
03
Biological functions
Hydrolysis of nucleoside diphosphates (prefers UDP > GDP > UTP > GTP; very low activity towards ADP/ATP; does not hydrolyze AMP/GMP)Proteoglycan biosynthesisRegulation of glycosaminoglycan biosynthesis in cartilageEndochondral ossification and skeletal developmentCellular protein secretion and ER/Golgi function
04
Disease associations
Skeletal dysplasia (Desbuquois dysplasia type 1)Epiphyseal dysplasia, multiple (EDM7)Craniofacial abnormalitiesJoint instability, polydactyly, dwarfism
05
Safety considerations
Notable safety/toxicity concerns would likely relate to skeletal, cartilage, and growth defects if enzyme activity is inhibited or disruptedLoss-of-function mutations result in skeletal dysplasia, indicating caution
06
Biomarkers
Mutations in CANT1 serve as genetic biomarkers for Desbuquois dysplasia type 1 and related skeletal abnormalities
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