CANT1 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. Involved in proteoglycan synthesis. Defects in CANT1 are the cause of Desbuquois dysplasia (DBQD). A chondrodysplasia characterized by severe prenatal and postnatal growth retardation (less than -5 SD), joint laxity, short extremities, progressive scoliosis, round face, midface hypoplasia, prominent bulging eyes. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advance carpal and tarsal bone age. Two forms of Desbuquois dysplasia are distinguished on the basis of the presence (type 1) or absence (type 2) of characteristic hand anomalies: an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and phalangeal dislocations. Belongs to the apyrase family. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: EC; Endoplasmic reticulum; Hydrolase; Membrane protein, integral; Nucleotide Metabolism - purine; Nucleotide Metabolism - pyrimidine
Chromosomal Location of Human Ortholog: 17q25.3
Cellular Component:  endoplasmic reticulum membrane; extracellular region; ficolin-1-rich granule lumen; Golgi cisterna membrane; integral component of membrane; membrane; plasma membrane; specific granule lumen; tertiary granule lumen
Molecular Function:  adenosine-diphosphatase activity; calcium ion binding; guanosine-diphosphatase activity; protein homodimerization activity
Biological Process:  neutrophil degranulation; proteoglycan biosynthetic process
Disease: Desbuquois Dysplasia 1; Epiphyseal Dysplasia, Multiple, 7
Reference #:  Q8WVQ1 (UniProtKB)
Alt. Names/Synonyms: Apyrase homolog; Ca2+-dependent endoplasmic reticulum nucleoside diphosphatase; calcium activated nucleotidase 1; CANT1; DBQD; Putative MAPK-activating protein PM09; Putative NF-kappa-B-activating protein 107; SCAN-1; SCAN1; SHAPY; soluble Ca-activated nucleotidase, isozyme 1; Soluble calcium-activated nucleotidase 1; soluble calcium-activated nucleotidase SCAN-1
Gene Symbols: CANT1
Molecular weight: 44,840 Da
Basal Isoelectric point: 5.72  Predict pI for various phosphorylation states
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Protein Structure Not Found.

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