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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormality of the skeletal system Likely pathogenic rs2071063107 RCV001814431
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CANT1-related disorder Likely pathogenic; Pathogenic rs267606700, rs587776895 RCV003398396
RCV003904861
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (16 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epiphyseal dysplasia, multiple, 7 Likely pathogenic; Pathogenic rs763733217, rs538543007, rs752656397, rs587776896, rs150181226, rs377546036, rs1014317450, rs761853610, rs1361897950 RCV005014661
RCV005016523
RCV005014853
RCV005025080
RCV005016291
View all (4 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Cervical cancer Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DESBUQUOIS DYSPLASIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Desbuquois syndrome Uncertain significance ClinVar
CTD, Disgenet, Orphanet
CTD, Disgenet, Orphanet
CTD, Disgenet, Orphanet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
LARSEN SYNDROME, DOMINANT TYPE CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Ataxia Telangiectasia Ataxia Telangiectasia BEFREE 23524341
★☆☆☆☆
Found in Text Mining only
Ataxia, Spinocerebellar Spinocerebellar Ataxia BEFREE 15744309, 17889645, 20687496, 23524341
★☆☆☆☆
Found in Text Mining only
Brachydactyly Brachydactyly Pubtator 40368527 Associate
★☆☆☆☆
Found in Text Mining only
Brachydactyly Brachydactyly HPO_DG
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 35589867, 38369265 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 37858061 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 38369265 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy Dilated Dilated cardiomyopathy Pubtator 36401332 Associate
★☆☆☆☆
Found in Text Mining only
Catel Manzke syndrome Catel Manzke Syndrome BEFREE 22887726
★☆☆☆☆
Found in Text Mining only
CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE Chondrodysplasia With Joint Dislocations BEFREE 22887726
★☆☆☆☆
Found in Text Mining only