CANT1 - calcium activated nucleotidase 1 Gene

Also Known as DBQD; EDM7; DBQD1; SCAN1; SHAPY; SCAN-1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 124583

About CANT1

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:78,991,716-79,009,764 (from NCBI)

This gene has 16 transcripts (splice variants), 265 orthologues and is associated with 57 phenotypes. Broad expression in colon (RPKM 44.8), prostate (RPKM 33.6) and 24 other tissues.

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 transcript variants have been noted for this gene.[provided by RefSeq, Mar 2010]

CANT1 Products (3)

mRNA Protein Name
NM_001159772.2 NP_001153244.1 soluble calcium-activated nucleotidase 1
NM_001159773.2 NP_001153245.1 soluble calcium-activated nucleotidase 1
NM_138793.4 NP_620148.1 soluble calcium-activated nucleotidase 1
Molecular Function GO Annotation Evidence References Source
enables ADP phosphatase activity IDA
IDA: Inferred from direct assay
16835225 GOA
enables GDP phosphatase activity IDA
IDA: Inferred from direct assay
16835225 GOA
enables calcium ion binding IDA
IDA: Inferred from direct assay
16835225 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
16835225 GOA
Biological Process GO Annotation Evidence References Source
involved in proteoglycan biosynthetic process IMP
IMP: Inferred from mutant phenotype
22539336 GOA
Cellular Component GO Annotation Evidence References Source
located in membrane IDA
IDA: Inferred from direct assay
16835225 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CANT1 Protein Structure

Apyrase

Apyrase: Apyrase (113 - 401)

  • 0
  • 100
  • 200
  • 300
  • 401 a.a.
Protein Preferred Names Protein Names

soluble calcium-activated nucleotidase 1

  • Ca2+-dependent endoplasmic reticulum nucleoside diphosphatase

CANT1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CANT1 Q8WVQ1 CLRN1 Homo sapiens P58418 32296183
Intra
CANT1 Q8WVQ1 CLRN1 Homo sapiens P58418 32296183
Intra
CANT1 Q8WVQ1 FAM209A Homo sapiens Q5JX71 32296183
Intra
CANT1 Q8WVQ1 FAM209A Homo sapiens Q5JX71 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant CANT1 Proteins

Cat. No. Product Name Accession Purity
HY-P74355 CANT1 Protein, Human (HEK293, His) Q8WVQ1-1 (G80-I401) ≥ 95%, as determined by reducing SDS-PAGE.
HY-P74356 CANT1 Protein, Human (HEK293, Fc) Q8WVQ1-1 (G80-I401) ≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Desbuquois Dysplasia 1
  • Desbuquois Syndrome

  • DBQD1

  • Micromelic Dwarfism With Vertebral And Metaphyseal Abnormalities And Advanced Carpotarsal Ossification

  • Dbqd

  • Desbuquois Dysplasia

  • Micromelic Dwarfism, Narrow Chest, Vertebral And Metaphyseal Abnormalities And Advanced Carpotarsal Ossification

  • Dysplasia, Desbuquois, Type 1

Epiphyseal Dysplasia, Multiple, 7
  • EDM7

  • Multiple Epiphyseal Dysplasia 7

Desbuquois Dysplasia
  • Desbuquois Syndrome

  • Micromelic Dwarfism With Vertebral And Metaphyseal Abnormalities And Advanced Carpotarsal Ossification

  • Dysplasia, Desbuquois

Multiple Epiphyseal Dysplasia
  • Med

  • Polyepiphyseal Dysplasia

  • Edm

  • Epiphyseal Dysplasia, Multiple, 1

  • Epiphyseal Dysplasia, Multiple, 2

  • Epiphyseal Dysplasia, Multiple, 3

  • Epiphyseal Dysplasia, Multiple, 4

  • Epiphyseal Dysplasia, Multiple, 5

  • Epiphyseal Dysplasia, Multiple

  • Edm1

  • Edm2

  • Edm3

  • Edm4

  • Edm5

  • Epiphyseal Dysplasia, Fairbank Type

  • Epiphyseal Dysplasia, Ribbing Type

  • Multiple Epiphyseal Dysplasia, Autosomal Dominant

  • Multiple Epiphyseal Dysplasia, Autosomal Recessive

  • Rmed

  • Dysplasia, Epiphyseal, Multiple

  • Osteochondrodysplasias

Platelet Aggregation, Spontaneous
Pseudodiastrophic Dysplasia
  • PDD

  • Pseudodiastrophic Dwarfism

Pineal Region Germinoma
  • Pineal Germinoma

Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
  • Spondyloepiphyseal Dysplasia

  • Chst3-Related Skeletal Dysplasia

  • Humerospinal Dysostosis

  • Spondyloepiphyseal Dysplasia, Omani Type

  • Chondrodysplasia With Multiple Dislocations

  • SEDCJD

  • Hsd

  • Cdmd

  • Humero-Spinal Dysostosis

  • Kozlowski Celermajer Tink Syndrome

  • Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type

  • Larsen Syndrome, Recessive Type

  • Humero-Spinal Dysostosis With Congenital Heart Disease

  • Omani Type

  • Sed

  • Chst3 Deficiency

  • Chst3-Related Dysplasia

  • Recessive Larsen Syndrome

  • Autosomal Recessive Larsen Syndrome

  • Sed With Luxations, Chst3 Type

  • Sed, Omani Type

  • Sdcd, Chst3 Type

  • Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type

  • Sed Omani Type

  • Spondyloepiphyseal Dysplasia Omani Type

  • Larsen Syndrome, Autosomal Recessive

  • Mucopolysaccharidosis Iv

  • Spondyloepiphyseal Dysplasia, Congenita

Larsen Syndrome
  • LRS

  • Larsen Syndrome, Dominant Type

  • Dominant Larsen Syndrome

  • Autosomal Dominant Larsen Syndrome

  • Larsens Syndrome

Larsen-Like Syndrome B3gat3 Type
  • Larsen-Like Syndrome, B3gat3 Type

  • Multiple Joint Dislocations-Short Stature-Craniofacial Dysmorphism-Congenital Heart Defects Syndrome

  • Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Congenital Heart Defects

  • Joint Dislocations, Multiple, Short Stature, Craniofacial Dysmorphism, Congenital Heart Defects

Hypertropia
Scoliosis
Osteochondrodysplasia
  • Skeletal Dysplasia

  • Chondrodystrophy

  • Congenital Anomaly Of Cartilage

  • Osteochondrodysplasias

  • Cartilage Development Disorder

  • Osteochondrodysplasia Syndrome

  • Dysplasia, Skeletal

  • Mucopolysaccharidosis Iv

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus CANT1 VGNC VGNC:26735
Mus musculus CANT1 MGD MGI:1923275
Canis familiaris CANT1 VGNC VGNC:49743
Macaca mulatta CANT1 VGNC VGNC:70580
Rattus norvegicus CANT1 RGD RGD:628743
Others CANT1 NCBI