1. Gene
  2. ATP2A3 - ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 Gene

ATP2A3 - ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 Gene

中文名称:ATPase 肌浆/内质网 Ca2+ 转运 3

种属: Homo sapiens

同用名: SERCA3

基因 ID: 489 | 基因类型: protein coding

关于 ATP2A3

Cytogenetic location: 17p13.2 Genomic coordinates (GRCh38): 17:3,923,873-3,964,437 (from NCBI)

This gene has 15 transcripts (splice variants), 208 orthologues and 21 paralogues. Broad expression in lymph node (RPKM 38.6), stomach (RPKM 37.7) and 18 other tissues.

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质网腔,并参与与肌肉兴奋和收缩相关的钙螯合。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2008 年 7 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 calcium sequestration associated with muscular excitation and contraction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

ATP2A3 基因产物(7)

mRNA Protein Name
NM_005173.4 NP_005164.2 sarcoplasmic/endoplasmic reticulum calcium ATPase 3 isoform a
NM_174953.3 NP_777613.1 sarcoplasmic/endoplasmic reticulum calcium ATPase 3 isoform e
NM_174954.3 NP_777614.1 sarcoplasmic/endoplasmic reticulum calcium ATPase 3 isoform d
NM_174955.3 NP_777615.1 sarcoplasmic/endoplasmic reticulum calcium ATPase 3 isoform b
NM_174956.3 NP_777616.1 sarcoplasmic/endoplasmic reticulum calcium ATPase 3 isoform c
NM_174957.3 NP_777617.1 sarcoplasmic/endoplasmic reticulum calcium ATPase 3 isoform f
NM_174958.3 NP_777618.1 sarcoplasmic/endoplasmic reticulum calcium ATPase 3 isoform c
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
9843705 GOA
enables calcium ion transmembrane transporter activity IDA
IDA: 通过直接分析推断
11956212 GOA
enables calcium-dependent ATPase activity IDA
IDA: 通过直接分析推断
9843705 GOA
enables cysteine-type endopeptidase activator activity involved in apoptotic process IDA
IDA: 通过直接分析推断
16725111 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
28890335 GOA
enables transmembrane transporter binding IPI
IPI: 通过物理相互作用推断
18068335 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
8809064 GOA
located in organelle membrane IDA
IDA: 通过直接分析推断
15028735 GOA
located in sarcoplasmic reticulum IDA
IDA: 通过直接分析推断
8809064 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

ATP2A3 蛋白结构

Cation_ATPase_N

Cation_ATPase_N: Cation transporter/ATPase, N-terminus (5 - 72)

E1-E2_ATPase

E1-E2_ATPase: E1-E2 ATPase (93 - 341)

Hydrolase

Hydrolase: haloacid dehalogenase-like hydrolase (346 - 714)

Cation_ATPase_C

Cation_ATPase_C: Cation transporting ATPase, C-terminus (784 - 987)

  • 0
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  • 1043 a.a.
蛋白主名 其他名称

sarcoplasmic/endoplasmic reticulum calcium ATPase 3

ATPase, Ca(2+)-transporting, ubiquitous

关联疾病

疾病名称 别名
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

Atrophic Muscular Disease

Muscular Disorders, Atrophic

Acrokeratosis Verruciformis

Acrokeratosis Verruciformis Of Hopf

Hopf Disease

AKV

Akv Of Hopf

Brody Disease

Brody Myopathy

BROD

Sarcoplasmic Reticulum -Ca2+Atpase Deficiency

Myopathy, Brody

Pthirus Pubis Infestation

Infestation By Phthirus Pubis

Crabs

Pediculosis Pubis

Pediculus Pubis

Phthiriasis Pubis

Phthirus Pubis

Phthirus/Pediculus Pubis - Pubic Lice - Crabs

Thrombocytopenia With Beta-Thalassemia, X-Linked

XLTT

Thrombocytopenia, Platelet Dysfunction, Hemolysis, And Imbalanced Globin Synthesis

Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome

Gata1-Related X-Linked Cytopenia

X-Linked Thrombocytopenia With Beta-Thalassemia

Thrombocytopenia Platelet Dysfunction Hemolysis And Imbalanced Globin Synthesis

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

Coffin-Siris Syndrome 1

Coffin-Siris Syndrome

Fifth Digit Syndrome

Css

CSS1

Mrd12

Mental Retardation, Autosomal Dominant 12

Hhid

Dwarfism-Onychodysplasia

Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features

Autosomal Dominant Mental Retardation 12

Short Stature-Onychodysplasia.

Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx

Mental Retardation With Hypoplastic Fifth Fingernails And Toenails

Short Stature-Onychodysplasia

Coffin-Siris Syndrome, Type 1

Mental Retardation, Autosomal Dominant, Type 12

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

直系同源

种属 基因名 来源 基因 ID
Bos taurus ATP2A3 VGNC VGNC:26292
Macaca mulatta ATP2A3 VGNC VGNC:70179
Felis catus ATP2A3 VGNC VGNC:68623
Mus musculus ATP2A3 MGD MGI:1194503
Rattus norvegicus ATP2A3 RGD RGD:2175
Canis familiaris ATP2A3 VGNC VGNC:38255