Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
124583
Gene name Gene Name - the full gene name approved by the HGNC.
Calcium activated nucleotidase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CANT1
Synonyms (NCBI Gene) Gene synonyms aliases
DBQD, DBQD1, EDM7, SCAN-1, SCAN1, SHAPY
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DBQD1, EDM7, SCAN1
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q25.3
Summary Summary 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
SNPs SNP 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
miRNA miRNA 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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613165 19721 ENSG00000171302
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
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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name 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
View all (22 more)
Desbuquois dysplasia DESBUQUOIS DYSPLASIA 1 rs587776509, rs267606701, rs267606699, rs587776510, rs267606700, rs587776895, rs587776896, rs587776897, rs150181226, rs587776898, rs377546036, rs387907081, rs587776951, rs587777366, rs587777368
View all (10 more)
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 term Disease name Evidence References Source
Desbuquois syndrome Desbuquois syndrome 22539336 ClinVar
Desbuquois Dysplasia Desbuquois dysplasia GenCC
Anxiety Disorder Anxiety Disorder GWAS
Associations from Text Mining
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