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  2. P2RX1 - purinergic receptor P2X 1 Gene

P2RX1 - purinergic receptor P2X 1 Gene

中文名称:嘌呤能受体 P2X 1

种属: Homo sapiens

同用名: P2X1

基因 ID: 5023 | 基因类型: protein coding

关于 P2RX1

Cytogenetic location: 17p13.2 Genomic coordinates (GRCh38): 17:3,896,592-3,916,465 (from NCBI)

This gene has 4 transcripts (splice variants), 199 orthologues and 6 paralogues. Broad expression in bone marrow (RPKM 20.3), urinary bladder (RPKM 20.1) and 15 other tissues.

功能概要

该基因编码的蛋白质属于 G 蛋白偶联受体的 P2X 家族。这些蛋白质可以形成同源和异源定时器,并作为 ATP 门控离子通道发挥作用,并介导对阳离子的快速和选择性渗透。这种蛋白质主要定位于平滑肌,在那里结合 ATP 并介导神经元之间以及从神经元到平滑肌的突触传递,并且可能负责小动脉、小动脉和输精管中的交感神经血管收缩。小鼠研究表明,这种受体对于正常的雄性生殖功能至关重要。这种蛋白质也可能参与促进细胞凋亡。[RefSeq 提供,2013 年 6 月]

The protein encoded by this gene belongs to the P2X family of G-protein-coupled receptors. These proteins can form homo-and heterotimers and function as ATP-gated ion channels and mediate rapid and selective permeability to cations. This protein is primarily localized to smooth muscle where binds ATP and mediates synaptic transmission between neurons and from neurons to smooth muscle and may being responsible for sympathetic vasoconstriction in small arteries, arterioles and vas deferens. Mouse studies suggest that this receptor is essential for normal male reproductive function. This protein may also be involved in promoting Apoptosis. [provided by RefSeq, Jun 2013]

P2RX1 基因产物(10)

mRNA Protein Name
XM_011523900.4 XP_011522202.1 P2X purinoceptor 1 isoform X7
XM_047436159.1 XP_047292115.1 P2X purinoceptor 1 isoform X5
XM_047436160.1 XP_047292116.1 P2X purinoceptor 1 isoform X7
XM_011523897.3 XP_011522199.1 P2X purinoceptor 1 isoform X2
XM_006721529.3 XP_006721592.1 P2X purinoceptor 1 isoform X6
XM_047436158.1 XP_047292114.1 P2X purinoceptor 1 isoform X1
NM_002558.4 NP_002549.1 P2X purinoceptor 1
XM_011523899.4 XP_011522201.1 P2X purinoceptor 1 isoform X4
XM_011523898.4 XP_011522200.1 P2X purinoceptor 1 isoform X3
XM_047436161.1 XP_047292117.1 P2X purinoceptor 1 isoform X8
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 extracellularly ATP-gated monoatomic cation channel activity IDA
IDA: 通过直接分析推断
8961184 GOA
enables ligand-gated calcium channel activity IDA
IDA: 通过直接分析推断
8961184 GOA
enables monoatomic cation channel activity IDA
IDA: 通过直接分析推断
8834001 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables purinergic nucleotide receptor activity IDA
IDA: 通过直接分析推断
8834001 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within monoatomic ion transport IDA
IDA: 通过直接分析推断
8834001 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
20699225 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
10816552 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

P2RX1 蛋白结构

P2X_receptor

P2X_receptor: ATP P2X receptor (14 - 378)

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

P2X purinoceptor 1

ATP receptor

P2X receptor, subunit 1

P2X1 receptor

purinergic receptor P2X, ligand gated ion channel, 1

purinergic receptor P2X1

P2RX1 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
Intra P2RX1 P51575 CYBC1 Homo sapiens Q9BQA9
Validated Y2H
32296183
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
Interstitial Cystitis

Bladder Pain Syndrome

Painful Bladder Syndrome

Ulcerative Cystitis

Ic/Bps

Ic/Pbs

Interstitial Cystitis/Bladder Pain Syndrome

Interstitial Cystitis/Painful Bladder Syndrome

Cystitis, Interstitial

Chronic Interstitial Cystitis

Pelvic Congestion Syndrome

Trigonitis

Deafness, Autosomal Dominant 41

DFNA41

Autosomal Dominant Nonsyndromic Deafness 41

Autosomal Dominant Deafness 41

Deafness, Autosomal Dominant, 41

Deafness, Autosomal Dominant, Type 41

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

Radiation Cystitis

Irradiation Cystitis

Neurogenic Bladder

Neurogenic Dysfunction Of The Urinary Bladder

Neurogenic Urinary Bladder Disorder

Neuropathic Bladder

Bladder Neurogenic

Urinary Bladder, Neurogenic

Neurogenic Urinary Bladder

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
Felis catus P2RX1 VGNC VGNC:68669
Bos taurus P2RX1 VGNC VGNC:32517
Rattus norvegicus P2RX1 RGD RGD:3240
Canis familiaris P2RX1 VGNC VGNC:44207
Macaca mulatta P2RX1 VGNC VGNC:75732
Mus musculus P2RX1 MGD MGI:1098235