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CANT1 (calcium activated nucleotidase 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
124583
Gene nameGene Name - the full gene name approved by the HGNC.
Calcium activated nucleotidase 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CANT1
SynonymsGene synonyms aliases
DBQD, DBQD1, EDM7, SCAN-1, SCAN1, SHAPY
ChromosomeChromosome number
17
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q25.3
SummarySummary of gene provided in NCBI Entrez Gene.
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 transcr
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs34082669 C>T Conflicting-interpretations-of-pathogenicity Non coding transcript variant, missense variant, coding sequence variant
rs150181226 A>G Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs267606699 C>T Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs267606700 G>A Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs267606701 G>A Pathogenic Non coding transcript variant, coding sequence variant, missense variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT025689 hsa-miR-7-5p Microarray 19073608
MIRT027486 hsa-miR-98-5p Microarray 19088304
MIRT044689 hsa-miR-320a CLASH 23622248
MIRT040798 hsa-miR-18a-3p CLASH 23622248
MIRT861238 hsa-miR-103a CLIP-seq
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004382 Function Guanosine-diphosphatase activity IBA 21873635
GO:0004382 Function Guanosine-diphosphatase activity IDA 16835225
GO:0005509 Function Calcium ion binding IDA 16835225
GO:0005515 Function Protein binding IPI 32296183
GO:0005576 Component Extracellular region TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q8WVQ1
Protein name Soluble calcium-activated nucleotidase 1 (SCAN-1) (EC 3.6.1.6) (Apyrase homolog) (Putative MAPK-activating protein PM09) (Putative NF-kappa-B-activating protein 107)
Protein 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 (PubMed:122
PDB 1S18 , 1S1D , 2H2N , 2H2U
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06079 Apyrase
113 401
Family
Sequence
Sequence length 401
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Purine metabolism
Pyrimidine metabolism
Metabolic pathways
Nucleotide metabolism
  Neutrophil degranulation
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Arthritis Degenerative polyarthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Desbuquois dysplasia DESBUQUOIS DYSPLASIA 1 rs587776509, rs267606701, rs267606699, rs587776510, rs267606700, rs587776895, rs587776896, rs587776897, rs150181226, rs587776898, rs377546036, rs387907081, rs587776951, rs587777366, rs587777368, rs587777369, rs587777370, rs538543007, rs1085307563, rs1323802111, rs761853610, rs1567215600, rs1567215615, rs1567300982, rs773215035 22539336, 21654728, 21037275, 19853239, 21412251, 27881841, 20425819
Epiphyseal dysplasia Epiphyseal dysplasia, EPIPHYSEAL DYSPLASIA, MULTIPLE, 7 rs137852652, rs28936668, rs1600786629, rs1600786748, rs606231367, rs1569763139, rs1569763108, rs1085307973, rs1555821817 28742282
Unknown
Disease name Disease term dbSNP ID References
Camptodactyly of fingers Clinodactyly of the 5th finger
Congenital clubfoot Congenital clubfoot
Congenital genu recurvatum Congenital genu recurvatum
Desbuquois syndrome Desbuquois syndrome rs567566510, rs886053521 22539336

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