2. Gene
  3. ATP2C1 - ATPase secretory pathway Ca2+ transporting 1 Gene

ATP2C1 - ATPase secretory pathway Ca2+ transporting 1 Gene

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

中文名称：ATPase 分泌途径 Ca2+ 转运 1

种属: Homo sapiens

同用名: HHD; BCPM; PMR1; SPCA1; hSPCA1; ATP2C1A

基因 ID: 27032 | 基因类型: protein coding

关于 ATP2C1

Cytogenetic location: 3q22.1 Genomic coordinates (GRCh38): 3:130,850,595-131,016,712 (from NCBI)

This gene has 24 transcripts (splice variants), 222 orthologues, 21 paralogues and is associated with 3 phenotypes. Ubiquitous expression in prostate (RPKM 37.4), brain (RPKM 22.8) and 25 other tissues.

功能概要

该基因编码的蛋白质属于 P 型阳离子转运 ATP 酶家族。这种镁依赖性酶催化 ATP 的水解以及钙离子的运输。该基因的缺陷会导致 Hailey-Hailey 病，这是一种常染色体显性遗传病。已经鉴定出编码不同亚型的选择性剪接转录物变体。[RefSeq 提供，2011 年 8 月]

The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent Enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium ions. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]

ATP2C1 基因产物(16)

mRNA Protein Name
NM_001001485.3 NP_001001485.1 calcium-transporting ATPase type 2C member 1 isoform 1c
NM_001001486.2 NP_001001486.1 calcium-transporting ATPase type 2C member 1 isoform 1d
NM_001001487.2 NP_001001487.1 calcium-transporting ATPase type 2C member 1 isoform 1b
NM_001199179.3 NP_001186108.1 calcium-transporting ATPase type 2C member 1 isoform 1a
NM_001199180.2 NP_001186109.1 calcium-transporting ATPase type 2C member 1 isoform 2a
NM_001199181.3 NP_001186110.1 calcium-transporting ATPase type 2C member 1 isoform 2b
NM_001199182.2 NP_001186111.1 calcium-transporting ATPase type 2C member 1 isoform 2c
NM_001199183.2 NP_001186112.1 calcium-transporting ATPase type 2C member 1 isoform 1e
NM_001199184.3 NP_001186113.1 calcium-transporting ATPase type 2C member 1 isoform 1f
NM_001199185.2 NP_001186114.1 calcium-transporting ATPase type 2C member 1 isoform 1c
NM_001378511.1 NP_001365440.1 calcium-transporting ATPase type 2C member 1 isoform 2d
NM_001378512.1 NP_001365441.1 calcium-transporting ATPase type 2C member 1 isoform 1d
NM_001378513.1 NP_001365442.1 calcium-transporting ATPase type 2C member 1 isoform 1b
NM_001378514.1 NP_001365443.1 calcium-transporting ATPase type 2C member 1 isoform 1g
NM_001378687.1 NP_001365616.1 calcium-transporting ATPase type 2C member 1 isoform 1a
NM_014382.5 NP_055197.2 calcium-transporting ATPase type 2C member 1 isoform 1a
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 ATP binding IDA
IDA: 通过直接分析推断
12707275 GOA
NOT enables P-type calcium transporter activity IDA
IDA: 通过直接分析推断
16192278 GOA
enables P-type calcium transporter activity IDA
IDA: 通过直接分析推断
12707275 GOA
enables P-type calcium transporter activity IMP
IMP: 通过突变表型推断
10615129 GOA
enables P-type manganese transporter activity IDA
IDA: 通过直接分析推断
21187401 GOA
enables calcium ion binding IDA
IDA: 通过直接分析推断
12707275 GOA
enables manganese ion binding IDA
IDA: 通过直接分析推断
12707275 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Golgi calcium ion homeostasis IMP
IMP: 通过突变表型推断
14632183 GOA
involved in Golgi calcium ion transport IMP
IMP: 通过突变表型推断
14632183 GOA
involved in actin cytoskeleton organization IMP
IMP: 通过突变表型推断
14632182 GOA
involved in calcium ion transport IDA
IDA: 通过直接分析推断
12707275 GOA
involved in calcium ion transport IMP
IMP: 通过突变表型推断
10615129 GOA
involved in calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules IMP
IMP: 通过突变表型推断
14632182 GOA
involved in epidermis development IMP
IMP: 通过突变表型推断
10615129 GOA
involved in intracellular calcium ion homeostasis IDA
IDA: 通过直接分析推断
12707275 GOA
involved in intracellular calcium ion homeostasis IMP
IMP: 通过突变表型推断
10615129 GOA
involved in intracellular manganese ion homeostasis IDA
IDA: 通过直接分析推断
12707275 GOA
involved in manganese ion transport IDA
IDA: 通过直接分析推断
12707275 GOA
involved in positive regulation of Golgi to plasma membrane protein transport IMP
IMP: 通过突变表型推断
20439740 GOA
involved in trans-Golgi network membrane organization IMP
IMP: 通过突变表型推断
20439740 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
11741891 GOA
located in Golgi membrane IDA
IDA: 通过直接分析推断
12804581 GOA
located in trans-Golgi network IDA
IDA: 通过直接分析推断
14632183 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

ATP2C1 蛋白结构

Cation_ATPase_N

Cation_ATPase_N: Cation transporter/ATPase, N-terminus (27 - 94)

E1-E2_ATPase

E1-E2_ATPase: E1-E2 ATPase (105 - 340)

Hydrolase

Hydrolase: haloacid dehalogenase-like hydrolase (344 - 656)

Cation_ATPase_C

Cation_ATPase_C: Cation transporting ATPase, C-terminus (726 - 897)

  • 0
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  • 919 a.a.
蛋白主名 其他名称

calcium-transporting ATPase type 2C member 1

ATP-dependent Ca(2+) pump PMR1

关联疾病

疾病名称 别名
Benign Chronic Pemphigus

Hailey-Hailey Disease

Pemphigus, Benign Familial

Familial Benign Pemphigus

Benign Familial Pemphigus

Familial Benign Chronic Pemphigus

BCPM

HHD

Benign Chronic Familial Pemphigus Of Hailey-Hailey

Pemphigus, Chronic, Benign
Pemphigus
Darier-White Disease

Keratosis Follicularis

Darier Disease

Darier'S Disease

DAR

DD

Darier White Disease

Darier Disease Acral Hemorrhagic Type

Darier Disease Segmental

Darier Disease, Acral Hemorrhagic Type

Darier Disease, Segmental
Skin Disease

Skin Diseases

Genodermatosis

Abnormality Of The Skin

Skin Diseases, Genetic

Skin And Subcutaneous Tissue Disease

Dermatologic Disorders
Bullous Skin Disease

Skin Diseases Bullous

Skin Diseases, Bullous
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-RS01198 ATP2C1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus ATP2C1 RGD RGD:621311
Mus musculus ATP2C1 MGD MGI:1889008
Macaca mulatta ATP2C1 VGNC VGNC:70054
Bos taurus ATP2C1 VGNC VGNC:26296
Felis catus ATP2C1 VGNC VGNC:102604
Canis familiaris ATP2C1 VGNC VGNC:38260
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