ATP2A1 - ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 Gene

中文名称：ATPase 肌浆/内质网 Ca2+ 转运 1

种属: Homo sapiens

同用名: ATP2A; SERCA1

基因 ID: 487 | 基因类型: protein coding

关于 ATP2A1

Cytogenetic location: 16p11.2 Genomic coordinates (GRCh38): 16:28,878,488-28,904,466 (from NCBI)

This gene has 9 transcripts (splice variants), 178 orthologues, 21 paralogues and is associated with 2 phenotypes. Biased expression in esophagus (RPKM 15.8), prostate (RPKM 13.1) and 1 other tissue.

功能概要

该基因编码一种 SERCA CA (2+) -ATP 酶，它是位于肌肉细胞的肌浆或内质网中的细胞内泵。这种酶催化 ATP 的水解，同时钙从胞质溶胶转移到肌浆网腔，并参与肌肉兴奋和收缩。该基因的突变会导致某些常染色体隐性遗传形式的布罗迪病，其特征是运动期间肌肉松弛的损害增加。可变剪接导致三种转录本变体编码不同的亚型。[RefSeq 提供，2013 年 10 月]

This gene encodes one of the SERCA CA(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This Enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in muscular excitation and contraction. Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Oct 2013]

ATP2A1 基因产物(3)

mRNA	Protein	Name
NM_001286075.2	NP_001273004.1	sarcoplasmic/endoplasmic reticulum calcium ATPase 1 isoform c
NM_004320.6	NP_004311.1	sarcoplasmic/endoplasmic reticulum calcium ATPase 1 isoform a
NM_173201.5	NP_775293.1	sarcoplasmic/endoplasmic reticulum calcium ATPase 1 isoform b

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 P-type calcium transporter activity	IDA IDA: 通过直接分析推断	1329967	GOA
enables calcium ion binding	IMP IMP: 通过突变表型推断	9405806	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	9295312	GOA
enables protein homodimerization activity	IPI IPI: 通过物理相互作用推断	11402072	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in apoptotic mitochondrial changes	IMP IMP: 通过突变表型推断	19061639	GOA
involved in calcium ion import	IMP IMP: 通过突变表型推断	8040329	GOA
involved in calcium ion transport	IDA IDA: 通过直接分析推断	11402072	GOA
involved in calcium ion transport	IMP IMP: 通过突变表型推断	9405806	GOA
involved in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IMP IMP: 通过突变表型推断	19061639	GOA
involved in maintenance of mitochondrion location	IMP IMP: 通过突变表型推断	19061639	GOA
involved in negative regulation of endoplasmic reticulum calcium ion concentration	IMP IMP: 通过突变表型推断	11402072	GOA
involved in negative regulation of striated muscle contraction	IMP IMP: 通过突变表型推断	10914677	GOA
involved in positive regulation of endoplasmic reticulum calcium ion concentration	IMP IMP: 通过突变表型推断	11402072	GOA
involved in positive regulation of fast-twitch skeletal muscle fiber contraction	IDA IDA: 通过直接分析推断	12479237	GOA
involved in positive regulation of mitochondrial calcium ion concentration	IMP IMP: 通过突变表型推断	19061639	GOA
involved in regulation of striated muscle contraction	IMP IMP: 通过突变表型推断	9405806	GOA
involved in relaxation of skeletal muscle	IDA IDA: 通过直接分析推断	8841193	GOA
involved in response to endoplasmic reticulum stress	IMP IMP: 通过突变表型推断	19061639	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in H zone	IDA IDA: 通过直接分析推断	1329967	GOA
located in I band	IDA IDA: 通过直接分析推断	1329967	GOA
located in endoplasmic reticulum membrane	IDA IDA: 通过直接分析推断	11402072	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

ATP2A1 蛋白结构

Cation_ATPase_N

E1-E2_ATPase

Hydrolase

Cation_ATPase_C

0
200
400
600
800
1001 a.a.

蛋白主名

其他名称

sarcoplasmic/endoplasmic reticulum calcium ATPase 1

ATPase, Ca++ transporting, cardiac muscle, fast twitch 1

ATP2A1 抗体

目录号	产品名	应用	反应物种
HY-P82412	SERCA1 ATPase Antibody (YA2157)	WB, IHC-P, IP	Human

关联疾病

疾病名称

别名

Brody Disease

Brody Myopathy	BROD
Sarcoplasmic Reticulum -Ca2+Atpase Deficiency	Myopathy, Brody

Atrophic Muscular Disease

Muscular Disorders, Atrophic

Myotonic Dystrophy 1

Myotonic Dystrophy	Dystrophia Myotonica
Steinert Disease	Myotonic Dystrophy Type 1
Myotonia Atrophica	DM1
Congenital Myotonic Dystrophy	Myotonia Dystrophica
Steinert Myotonic Dystrophy	Dystrophia Myotonica 1
Dm	Steinert'S Disease
Steinert Myotonic Dystrophy Syndrome	Myotonic Dystrophy Of Steinert
Dystrophia Myotonica Type 1	Myotonic Dystrophy Congenital
Dystrophy, Myotonic, Type 1	Dm - [Dystrophia Myotonica]
Myotonic Muscular Dystrophy

Myotonic Disease

Myotonic Disorders	Myotonic Syndrome
Symptomatic Myotonia

Myopathy

Muscular Diseases

Myopathies

Infiltrating Lipoma

Intramuscular Lipoma

Myotonic Dystrophy 2

Myotonic Dystrophy Type 2	Proximal Myotonic Myopathy
Promm	Ricker Syndrome
DM2	Dystrophia Myotonica 2
Myotonic Myopathy, Proximal	Myotonic Disorders
Dystrophia Myotonica Type 2	Proximal Myotonic Dystrophy
Ricker Disease	Myotonic Dystrophy, Type 2
Dystrophy, Myotonic, Type 2

Glycogen Storage Disease V

Mcardle Disease	Myophosphorylase Deficiency
Glycogen Storage Disease Type V	Muscle Glycogen Phosphorylase Deficiency
Pygm Deficiency	Gsd V
Glycogen Storage Disease, Type V	Glycogenosis Type V
Glycogen Storage Disease Type 5	GSD5
Pygmy	Mcardle'S Disease
Mcardle Type Glycogen Storage Disease	Gsd Type V
Pygmy, African	Gsdv
Gsd 5	Glycogenosis 5
Mcardle Syndrome	Muscle Phosphorylase Deficiency
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Gsd Due To Muscle Glycogen Phosphorylase Deficiency
Gsd Type 5	Glycogenosis Due To Muscle Glycogen Phosphorylase Deficiency
Glycogenosis Type 5	Glycogen Storage Disease 5
Gsd-V	Mcardles Disease
Storage Disease, Glycogen, Type V

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

Muscular Dystrophy

Muscular Dystrophies	Congenital Md
Congenital Muscular Dystrophy	Cmd
Mdc	Dystrophy, Muscular
Gower'S Muscular Dystrophy	Progressive Musclular Dystrophy
Pseudohypertrophic Atrophy	Pseudohypertrophic Muscle Paralysis
Pseudohypertrophic Muscular Atrophy	Pseudohypertrophic Muscular Dystrophy
Pseudohypertrophic Paralysis	Pseudomuscular Hypertrophy

Malignant Hyperthermia

Anesthesia Related Hyperthermia	Malignant Hyperpyrexia Due To Anesthesia
Hyperpyrexia, Malignant	Hyperthermia, Malignant
Malignant Hyperpyrexia	Mhs
Malignant Fever

Multiminicore Disease

Multiminicore Myopathy	Mmd
Minicore Disease	Minicore Myopathy
Multi-Core Congenital Myopathy	Multi-Core Disease
Multi-Minicore Disease	Multicore Disease
Multicore Myopathy	Minicore Myopathy With External Ophthalmoplegia

Myotonia Congenita

Congenital Myotonia, Autosomal Dominant Form	Congenital Myotonia
Thomsen And Becker Disease	Thomsen Disease
Thomsen'S Disease	Generalized Myotonia Of Thomsen
Congenital Myotonic Muscular Dystrophy	Myotonia Congenita Nos

Fuchs' Endothelial Dystrophy

Fuchs Endothelial Corneal Dystrophy	Fuchs Endothelial Dystrophy
Fuchs Dystrophy	Fced
Fuchs' Corneal Dystrophy	Fuchs' Endothelial Corneal Dystrophy
Fuchs Atrophy	Fuchs Corneal Dystrophy
Endoepithelial Corneal Dystrophy	Fecd
Late Hereditary Endothelial Dystrophy	Corneal Dystrophy, Fuchs Endothelial
Dystrophy, Corneal, Fuchs Endothelial	Corneal Dystrophy, Fuchs' Endothelial, 1

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS01191	ATP2A1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS01194	ATP2B1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
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
Bos taurus	ATP2A1	VGNC	VGNC:26290
Canis familiaris	ATP2A1	VGNC	VGNC:38253
Rattus norvegicus	ATP2A1	RGD	RGD:621293
Mus musculus	ATP2A1	MGD	MGI:105058
Felis catus	ATP2A1	VGNC	VGNC:68617

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

ATP2A1 - ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 Gene

关于 ATP2A1

功能概要

ATP2A1 基因产物(3)

ATP2A1 蛋白结构

ATP2A1 抗体

关联疾病

直系同源

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ATP2A1 - ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 Gene

关于 ATP2A1

功能概要

ATP2A1 基因产物(3)

ATP2A1 蛋白结构

ATP2A1 抗体

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z