2. Gene
  3. CANT1 - calcium activated nucleotidase 1 Gene

CANT1 - calcium activated nucleotidase 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：钙活化核苷酸酶 1

种属: Homo sapiens

同用名: DBQD; EDM7; DBQD1; SCAN1; SHAPY; SCAN-1

基因 ID: 124583 | 基因类型: protein coding

关于 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.

功能概要

这种由该基因编码的蛋白质属于腺苷三磷酸双磷酸酶家族。它作为钙依赖性核苷酸酶发挥作用，对 UDP 具有偏好性。该基因的突变与伴有手部异常的 Desbuquois 发育不良有关。已注意到该基因的可变剪接转录本变体。[RefSeq 提供，2010 年 3 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables ADP phosphatase activity IDA
IDA: 通过直接分析推断
16835225 GOA
enables GDP phosphatase activity IDA
IDA: 通过直接分析推断
16835225 GOA
enables calcium ion binding IDA
IDA: 通过直接分析推断
16835225 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
16835225 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in proteoglycan biosynthetic process IMP
IMP: 通过突变表型推断
22539336 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in membrane IDA
IDA: 通过直接分析推断
16835225 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

CANT1 蛋白结构

Apyrase

Apyrase: Apyrase (113 - 401)

  • 0
  • 100
  • 200
  • 300
  • 401 a.a.
蛋白主名 其他名称

soluble calcium-activated nucleotidase 1

Ca2+-dependent endoplasmic reticulum nucleoside diphosphatase

重组 CANT1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P74355 CANT1 Protein, Human (HEK293, His) Q8WVQ1-1 (G80-I401) ≥95%
HY-P74356 CANT1 Protein, Human (HEK293, Fc) Q8WVQ1-1 (G80-I401) ≥95%

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS01878 CANT1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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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