AAH65038.1
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
38,946 Da
NCBI Official Full Name
CANT1 protein
NCBI Official Synonym Full Names
calcium activated nucleotidase 1
NCBI Official Synonym Symbols
DBQD; DBQD1; SCAN1; SHAPY; SCAN-1 [Similar Products]
NCBI Protein Information
soluble calcium-activated nucleotidase 1
UniProt Protein Name
Soluble calcium-activated nucleotidase 1
UniProt Synonym Protein Names
Apyrase homolog; Putative MAPK-activating protein PM09; Putative NF-kappa-B-activating protein 107
UniProt Synonym Gene Names
UniProt Entry Name
CANT1_HUMAN
NCBI Summary for CANT1
This protein encoded by this gene belongs to the apyrase family. It functions as a calcium-dependent nucleotidase with a preference for UDP. Mutations in this gene are associated with Desbuquois dysplasia with hand anomalies. Alternatively spliced transcript variants have been noted for this gene.[provided by RefSeq, Mar 2010]
UniProt Comments for CANT1
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.
Protein type: Membrane protein, integral; Nucleotide Metabolism - purine; Nucleotide Metabolism - pyrimidine; Endoplasmic reticulum; EC 3.6.1.6; Hydrolase
Chromosomal Location of Human Ortholog: 17q25.3
Cellular Component: endoplasmic reticulum membrane; integral to membrane
Molecular Function: calcium ion binding; guanosine-diphosphatase activity; signal transducer activity; uridine-diphosphatase activity
Biological Process: positive regulation of I-kappaB kinase/NF-kappaB cascade; proteoglycan biosynthetic process; signal transduction
Disease: Desbuquois Dysplasia 1
Research Articles on CANT1
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Products associated with CANT1 antibody pair
Pathways associated with CANT1 antibody pair
Diseases associated with CANT1 antibody pair
Organs/Tissues associated with CANT1 antibody pair
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