CANT1 - calcium activated nucleotidase 1 Gene

Homo sapiens

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

Gene ID: 124583 | Gene type: protein coding

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

CANT1 Protein Structure

Apyrase

0
100
200
300
401 a.a.

Protein Preferred Names

Protein Names

soluble calcium-activated nucleotidase 1

Ca2+-dependent endoplasmic reticulum nucleoside diphosphatase

Recombinant CANT1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P74355	CANT1 Protein, Human (HEK293, His)	Q8WVQ1 (G80-I401)	≥95%
HY-P74356	CANT1 Protein, Human (HEK293, Fc)	Q8WVQ1 (G80-I401)	≥95%

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01878	CANT1 Human Pre-designed siRNA Set A		/	Unkown

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

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