Gene Gene information from NCBI Gene database.
Entrez ID 124583
Gene name Calcium activated nucleotidase 1
Gene symbol CANT1
Synonyms (NCBI Gene)
DBQDDBQD1EDM7SCAN-1SCAN1SHAPY
Chromosome 17
Chromosome location 17q25.3
Summary 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
SNPs SNP information provided by dbSNP.
21
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
miRNA miRNA information provided by mirtarbase database.
740
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0004382 Function GDP phosphatase activity IBA
GO:0004382 Function GDP phosphatase activity IDA 16835225
GO:0005509 Function Calcium ion binding IDA 16835225
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613165 19721 ENSG00000171302
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:12234496}.
Sequence
Sequence length 401
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Purine metabolism
Pyrimidine metabolism
Metabolic pathways
Nucleotide metabolism
  Neutrophil degranulation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
183
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormality of the skeletal system Likely pathogenic rs2071063107 RCV001814431
CANT1-related disorder Likely pathogenic; Pathogenic rs267606700, rs587776895 RCV003398396
RCV003904861
Desbuquois dysplasia 1 Likely pathogenic; Pathogenic rs763733217, rs587776509, rs267606701, rs267606699, rs587776510, rs267606700, rs538543007, rs774522276, rs752656397, rs1233347902, rs587776895, rs587776896, rs587776897, rs150181226, rs587776898
View all (6 more)
RCV005014661
RCV000000302
RCV000000303
RCV000000304
RCV000000305
RCV000000307
RCV005016523
RCV004594704
RCV005014853
RCV003991994
RCV000024005
RCV000024006
RCV000024007
RCV000024008
RCV000024009
RCV000024010
RCV000024011
RCV002250651
RCV000034325
RCV001260984
RCV005021488
Epiphyseal dysplasia, multiple, 7 Likely pathogenic; Pathogenic rs763733217, rs538543007, rs752656397, rs587776896, rs150181226, rs377546036, rs1014317450, rs761853610, rs1361897950 RCV005014661
RCV005016523
RCV005014853
RCV005025080
RCV005016291
RCV000509573
RCV000509575
RCV005027616
RCV005021488
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Conflicting classifications of pathogenicity rs144060377 RCV005895464
Desbuquois syndrome Uncertain significance rs567566510, rs886053521 RCV000287566
RCV000400015
Malignant tumor of esophagus Conflicting classifications of pathogenicity rs144060377 RCV005895463
Malignant tumor of urinary bladder Uncertain significance rs146866436 RCV005894714
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 35090419, 38369265
Brachydactyly Associate 40368527
Breast Neoplasms Associate 35589867, 38369265
Carcinoma Hepatocellular Associate 37858061
Carcinoma Renal Cell Associate 38369265
Cardiomyopathy Dilated Associate 36401332
Desbuquois syndrome Associate 19853239, 21654728, 22539336, 24581741, 31988067, 32907608, 40368527
Esophageal Neoplasms Associate 38369265
Fatty Liver Associate 38034016
Glioma of Brain Familial Associate 38369265