Human Gene CANT1 (ENST00000392446.10) Description and Page Index
Description: Homo sapiens calcium activated nucleotidase 1 (CANT1), transcript variant 1, mRNA. (from RefSeq NM_138793) RefSeq Summary (NM_001159773): 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]. Gencode Transcript: ENST00000392446.10 Gencode Gene: ENSG00000171302.17 Transcript (Including UTRs) Position: hg38 chr17:78,991,716-79,009,764 Size: 18,049 Total Exon Count: 5 Strand: - Coding Region Position: hg38 chr17:78,993,550-78,997,622 Size: 4,073 Coding Exon Count: 3
ID:CANT1_HUMAN DESCRIPTION: RecName: Full=Soluble calcium-activated nucleotidase 1; Short=SCAN-1; EC=188.8.131.52; AltName: Full=Apyrase homolog; AltName: Full=Putative MAPK-activating protein PM09; AltName: Full=Putative NF-kappa-B-activating protein 107; FUNCTION: 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. CATALYTIC ACTIVITY: A nucleoside diphosphate + H(2)O = a nucleotide + phosphate. COFACTOR: Calcium. BIOPHYSICOCHEMICAL PROPERTIES: pH dependence: Optimum pH is 6.8; SUBUNIT: Monomer. SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass type II membrane protein. Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Processed form: Secreted. TISSUE SPECIFICITY: Widely expressed. PTM: N-glycosylated. DISEASE: Defects in CANT1 are the cause of Desbuquois dysplasia (DBQD) [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 (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. MISCELLANEOUS: Not inhibited by azide. SIMILARITY: Belongs to the apyrase family. SEQUENCE CAUTION: Sequence=AAM94564.1; Type=Erroneous initiation;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8WVQ1
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.