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MGP006447

UniProt Annotations

Entry Information
Gene Namecalcium activated nucleotidase 1
Protein EntryCANT1_HUMAN
UniProt IDQ8WVQ1
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8WVQ1-1; Sequence=Displayed; Name=2; IsoId=Q8WVQ1-2; Sequence=VSP_013760, VSP_013761; Name=3; IsoId=Q8WVQ1-3; Sequence=VSP_054260; Note=No experimental confirmation available.;
Biophysicochemical PropertiespH dependence: Optimum pH is 6.8.;
Catalytic ActivityA nucleoside diphosphate + H(2)O = a nucleoside phosphate + phosphate.
CofactorName=Ca(2+); Xref=ChEBI:CHEBI:29108; Evidence={ECO:0000269|PubMed:12234496, ECO:0000269|PubMed:15248776};
DiseaseDesbuquois dysplasia 1 (DBQD1) [MIM:251450]: 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 or absence of characteristic hand anomalies: an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and phalangeal dislocations. {ECO:0000269|PubMed:19853239, ECO:0000269|PubMed:20425819, ECO:0000269|PubMed:21037275, ECO:0000269|PubMed:21412251, ECO:0000269|PubMed:21654728, ECO:0000269|PubMed:22539336}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCalcium-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. {ECO:0000269|PubMed:12234496, ECO:0000269|PubMed:15248776, ECO:0000269|PubMed:22539336}.
MiscellaneousNot inhibited by azide.
PtmN-glycosylated. {ECO:0000269|PubMed:12234496}.
Sequence CautionSequence=AAM94564.1; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the apyrase family. {ECO:0000305}.
Subcellular LocationEndoplasmic reticulum membrane {ECO:0000269|PubMed:12234496}; Single-pass type II membrane protein {ECO:0000269|PubMed:12234496}. Golgi apparatus, Golgi stack membrane {ECO:0000269|PubMed:12234496}; Single-pass type II membrane protein {ECO:0000269|PubMed:12234496}. Note=Processed form: Secreted.
SubunitMonomer. {ECO:0000269|PubMed:12234496, ECO:0000269|PubMed:15006348}.
Tissue SpecificityWidely expressed. {ECO:0000269|PubMed:12234496}.
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