Calcium-Activated Nucleotidase 1

Alternative Names

  • CANT1
  • Soluble Calcium-Activated Nucleotidase 1
  • SCAN1

Associated Diseases

Desbuquois Dysplasia 1
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OMIM Number

613165

NCBI Gene ID

124583

Uniprot ID

Q8WVQ1

Length

18,078 bases

No. of Exons

8

No. of isoforms

3

Protein Name

Soluble calcium-activated nucleotidase 1

Molecular Mass

44840 Da

Amino Acid Count

401

Genomic Location

chr17:78,991,715-79,009,792

Gene Map Locus
17q25.3

Description

CANT1 protein is encoded by a gene that belongs to the apyrase family. This protein localizes in the endoplasmic reticulum membrane and within the Golgi apparatus. It functions as a calcium-dependent nucleotidase with a preference for UDP. The order of activity with different substrates is UDP > GDP > UTP > GTP. It has a very low activity towards ADP and even lower activity towards ATP, but it does not hydrolyze AMP and GMP. This enzyme is also involved in proteoglycan synthesis. Defects in this enzyme are the cause of are Desbuquois dysplasia, a rare condition of an autosomal recessive inheritance, characterized by antenatal and postnatal growth restriction, distinct hand and proximal femur appearance, advanced carpal ossification in addition to cognitive impairment. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001159773.1:c.901_903delAlgeriaNC_000017.11:g.78993856_78993858delLikely PathogenicDesbuquois Dysplasia 1NM_001159773.1:c.901_903del; NP_001153245.1:p.Arg301del
NM_001159773.2:c.1121T>AMoroccoNC_000017.11:g.78993635A>TLikely PathogenicDesbuquois Dysplasia 1NG_016645.1:g.21183A>T; NM_001159773.2:c.1121T>A; NP_001153245.1:p.Ile374Asn
NM_001159773.2:c.531_532delYemenNC_000017.11:g.78997091AG[1]Likely PathogenicDesbuquois Dysplasia 1NG_016645.1:g.17724CT[1]; NM_001159773.2:c.531_532del; NP_001153245.1:p.Tyr178LeufsTer4766493688
NM_001159773.2:c.899G>AUnited Arab EmiratesNC_000017.11:g.78993857C>TPathogenicPathogenicDesbuquois Dysplasia 1NG_016645.1:g.20961G>A; NM_001159773.2:c.899G>A; NP_001153245.1:p.Arg300His267606699280
NM_001159773.2:c.902_906dupMorocco; Saudi Arabia;...NC_000017.11:g.78993853GCGGC[3]PathogenicLikely Pathogenic, PathogenicDesbuquois Dysplasia 1NG_016645.1:g.20959GCGCC[3]; NM_001159773.2:c.902_906dup; NP_001153245.1:p.Ser303fs58777689531013

Other Reports

Saudi Arabia

Faden et al. (2010) described a newborn male with Desbuquois dysplasia.  The patient was born to consanguineous parents of Saudi origin.  The patient suffered from severe growth retardation, abnormally short limbs, clubfeet, facial dysmorphia and bilateral congenital glaucoma.  X-rays revealed severe Desbuquois features of the hand as well as characteristic ‘monkey-wrench’ appearance of the proximal femur.  The patient succumbed to severe respiratory distress at one month of age.  Homozygosity mapping revealed a region of homozygosity on chromosome 17q.  By combining the data with a previously reported linkage interval, the region was narrowed to 1.2 Mb and carried 10 genes.  Mutation analysis then revealed a novel 5 bp duplication (c.893-894insGCCGC) in the CANT1 gene.  This was predicted to result in a frameshift and premature truncation of the protein at codon 325. Both parents were found to be carriers of the mutation.

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