1. Gene
  2. ORAI1 - ORAI calcium release-activated calcium modulator 1 Gene

ORAI1 - ORAI calcium release-activated calcium modulator 1 Gene

中文名称:ORAI 钙释放激活钙调节因子 1

种属: Homo sapiens

同用名: IMD9; TAM2; ORAT1; CRACM1; TMEM142A

基因 ID: 84876 | 基因类型: protein coding

关于 ORAI1

Cytogenetic location: 12q24.31 Genomic coordinates (GRCh38): 12:121,626,550-121,642,040 (from NCBI)

功能概要

由该基因编码的蛋白质是一种膜钙通道亚基,当钙储备耗尽时,它会被钙传感器 STIM1 激活。这种类型的通道是钙流入 T 细胞的主要途径。该基因的缺陷是由于 1 型钙进入缺陷 (IDTICED1) 导致的 T 细胞失活导致免疫功能障碍的原因。[RefSeq 提供,2011 年 9 月]

The protein encoded by this gene is a membrane Calcium Channel subunit that is activated by the calcium sensor STIM1 when calcium stores are depleted. This type of channel is the primary way for calcium influx into T-cells. Defects in this gene are a cause of immune dysfunction with T-cell inactivation due to calcium entry defect type 1 (IDTICED1). [provided by RefSeq, Sep 2011]

ORAI1 基因产物(1)

mRNA Protein Name
NM_032790.3 NP_116179.2 calcium release-activated calcium channel protein 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 calcium channel activity IDA
IDA: 通过直接分析推断
31009446 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
18757751 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
17360584 GOA
enables store-operated calcium channel activity IDA
IDA: 通过直接分析推断
16645049 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in calcineurin-NFAT signaling cascade IMP
IMP: 通过突变表型推断
33941685 GOA
involved in calcium ion transmembrane transport IDA
IDA: 通过直接分析推断
31009446 GOA
involved in positive regulation of adenylate cyclase activity IDA
IDA: 通过直接分析推断
19171672 GOA
involved in positive regulation of calcium ion transport IDA
IDA: 通过直接分析推断
16645049 GOA
involved in regulation of calcium ion transport IMP
IMP: 通过突变表型推断
16921383 GOA
involved in store-operated calcium entry IDA
IDA: 通过直接分析推断
16921383 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in membrane raft IDA
IDA: 通过直接分析推断
22494970 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
16645049 GOA
located in plasma membrane raft IDA
IDA: 通过直接分析推断
19171672 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

ORAI1 蛋白结构

Orai-1

Orai-1: Mediator of CRAC channel activity (70 - 271)

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

calcium release-activated calcium channel protein 1

calcium release-activated calcium modulator 1

ORAI1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Cross ORAI1 Q96D31 Trpc6 Mus musculus Q61143
Anti Tag CoIP
17360584
Cross ORAI1 Q96D31 Trpc6 Mus musculus Q61143
Pull Down
17360584
Intra ORAI1 Q96D31 STIM1 Homo sapiens Q13586
Pull Down
19249086
Intra ORAI1 Q96D31 ORAI1 Homo sapiens Q96D31
Crosslink
20018736
Intra ORAI1 Q96D31 STIM1 Homo sapiens Q13586
Ub Reconstruction
19249086
Intra ORAI1 Q96D31 STIM1 Homo sapiens Q13586
Anti Tag CoIP
19249086
Intra ORAI1 Q96D31 ORAI1 Homo sapiens Q96D31
GMS
19249086
Intra ORAI1 Q96D31 STIM1 Homo sapiens Q13586
Anti Tag CoIP
19706554
Intra ORAI1 Q96D31 STIM1 Homo sapiens Q13586
AFM
24996186
Intra ORAI1 Q96D31 ORAI1 Homo sapiens Q96D31
FRET
18757751
Intra ORAI1 Q96D31 STIM1 Homo sapiens Q13586
GMS
19249086
Intra ORAI1 Q96D31 STIM1 Homo sapiens Q13586
Anti Tag CoIP
20418871
Intra ORAI1 Q96D31 EFHB Homo sapiens Q8N7U6
Anti Bait CoIP
30481768
Intra ORAI1 Q96D31 ATP2C2 Homo sapiens O75185
Confocal
20887894
Intra ORAI1 Q96D31 ATP2C2 Homo sapiens O75185
Anti Bait CoIP
20887894
Intra ORAI1 Q96D31 ATP2C2 Homo sapiens O75185
Pull Down
20887894
Intra ORAI1 Q96D31 ORAI3 Homo sapiens Q9BRQ5
Confocal
24954132
Intra ORAI1 Q96D31 ORAI3 Homo sapiens Q9BRQ5
FRET
19887627
Intra ORAI1 Q96D31 CRACR2A Homo sapiens Q9BSW2
Anti Tag CoIP
20418871
Intra ORAI1 Q96D31 CRACR2A Homo sapiens Q9BSW2
Pull Down
20418871
Intra ORAI1 Q96D31 TRPC1 Homo sapiens P48995
Anti Bait CoIP
21408196
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Immunodeficiency 9

Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 1

Combined Immunodeficiency Due To Orai1 Deficiency

IMD9

Cid Due To Orai1 Deficiency

Severe Combined Immunodeficiency Due To Crac Channel Dysfunction

Immunodeficiency, Type 9

Myopathy, Tubular Aggregate, 2

TAM2

Tubular Aggregate Myopathy 2

Stormorken Syndrome

Thrombocytopathy, Asplenia, And Miosis

Stormorken-Sjaastad-Langslet Syndrome

STRMK

York Platelet Syndrome

Yps

Thrombocytopathy, Asplenia And Miosis

Thrombocytopathy Asplenia Miosis

Thrombocytopathy-Asplenia-Miosis Syndrome

Miosis Disorder

Myopathy, Tubular Aggregate, 1

Tubular Aggregate Myopathy

Tam

Myopathy With Tubular Aggregates

TAM1

Myopathy, Tubular Aggregate

Tubular Aggregate Myopathy 1

Ectodermal Dysplasia

Congenital Ectodermal Defect

Congenital Ectodermal Dysplasia

Ectodermal Dysplasia Syndrome

Dysplasia, Ectodermal

Anhidrosis

Hypohidrosis

Absence Of Sweating

Adiaphoresis

Impaired Sweating

Oligohidrosis

Immunodeficiency 10

Immune Dysfunction With T-Cell Inactivation Due To Calcium Entry Defect 2

Combined Immunodeficiency Due To Stim1 Deficiency

IMD10

Stim1 Deficiency

Cid Due To Stim1 Deficiency

Immune Dysfunction, With T-Cell Inactivation Due To Calcium Entry Defect 2

Immunodeficiency, Type 10

T Cell And Nk Cell Immunodeficiency
Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency

Congenital Combined Immunodeficiency

Syndrome With Combined Immunodeficiency

Combined T And B Cell Immunodeficiency

Combined Immunity Deficiency

Combined Immunodeficiency Syndrome

Combined T-Cell And B-Cell Immunodeficiency

Lymphopenic Agammaglobulinaemia

Urolithiasis
Myopathy

Muscular Diseases

Myopathies

Severe Combined Immunodeficiency

Scid

Severe Combined Immunodeficiency Disease

Combined T And B Cell Inborn Immunodeficiency

Immunodeficiency, Severe Combined

Scid - [Severe Combined Immunodeficiencies]

Nephrolithiasis

Kidney Stones

Stone - Kidney/Ureter

Kidney Calculi

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
Canis familiaris ORAI1 VGNC VGNC:44137
Rattus norvegicus ORAI1 RGD RGD:1311873
Mus musculus ORAI1 MGD MGI:1925542
Bos taurus ORAI1 VGNC VGNC:32443
Macaca mulatta ORAI1 VGNC VGNC:75464
Felis catus ORAI1 VGNC VGNC:63971