AQP1 (aquaporin 1 (Colton blood group))

基因基本信息

基因基本信息

symbol:
AQP1
locus group:
protein-coding gene
location:
7p14.3
gene_family:
Aquaporins|Blood group antigens
alias symbol:
CHIP28
alias name:
None
entrez id:
358
ensembl gene id:
ENSG00000240583
ucsc gene id:
uc003tbv.3
refseq accession:
NM_198098
hgnc_id:
HGNC:633
approved reserved:
1993-07-09

基因染色体位置

基因染色体位置

7p14.3
基因染色体位置图

基因简述

基因简述

AQP1（水通道蛋白1）是一种属于水通道蛋白（Aquaporin）家族的基因，该家族的主要共性是形成跨膜通道，选择性运输水分子和小分子溶质（如甘油），在维持细胞内外水平衡中起关键作用。AQP1是第一个被发现的水通道蛋白，广泛分布于多种组织中，包括肾脏近曲小管、红细胞、血管内皮细胞和眼睛的睫状体等。它的主要功能是促进水的快速跨膜运输，对尿液浓缩、体液分泌和吸收等生理过程至关重要。AQP1的特点是其高度选择性，仅允许水分子通过，而排斥其他溶质和离子，这种选择性由其独特的通道结构（如保守的NPA氨基酸序列）决定。AQP1的突变可能导致功能丧失，与人类疾病相关，例如AQP1缺失或突变可导致肾浓缩功能障碍，表现为尿崩症样症状，但程度较轻。此外，AQP1在肿瘤血管生成中过度表达，可能与癌症进展相关，因为其促进内皮细胞迁移和血管形成。降低AQP1表达可能抑制肿瘤生长，但也可能影响正常生理功能，如肾脏水重吸收。AQP1还参与脑水肿和青光眼等疾病的病理过程，因此成为潜在的治疗靶点。该基因家族的其他成员（如AQP2、AQP4等）具有组织特异性分布和功能差异，但均共享水运输的核心功能。AQP1的过表达可能增强组织的水通透性，而敲除或抑制其表达可能干扰体液平衡，具体效应取决于组织类型。研究还发现，AQP1与其他基因（如离子通道或转运蛋白）协同作用，共同调节渗透压和细胞体积。

Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This gene encodes an aquaporin which functions as a molecular water channel protein. It is a homotetramer with 6 bilayer spanning domains and N-glycosylation sites. The protein physically resembles channel proteins and is abundant in erythrocytes and renal tubes. The gene encoding this aquaporin is a possible candidate for disorders involving imbalance in ocular fluid movement. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

水通道蛋白是相关的主要内在蛋白（MIP或AQP0）小整合膜蛋白的一个家族。该基因编码一个水通道蛋白，其功能作为分子水通道蛋白。它是与6双层跨越域和N-糖基化位点的同源四聚体。蛋白质物理类似于通道蛋白，是红细胞和肾管丰富。这个编码水通道蛋白基因是涉及眼流体运动失调症可能成为候选人。已发现该基因编码不同亚型的几个抄本变形。 [由RefSeq的，2010年6月提供]

OMIM数据库中对AQP1基因的介绍     Wikipedia数据库中对AQP1基因的介绍

基因序列

基因序列

AQP1基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

AQP1基因的碱基突变：           仅显示部分snp
rs13600       rs765839       rs765840       rs1004317       rs1004318       rs1049305       rs1049348       rs1049352       rs1476597       rs1859838       rs1859839       rs1859840       rs1859841       rs2075574       rs2267718       rs2267719       rs2267720      

基因表达

基因表达

AQP1基因在不同组织中的表达：    [UniProt]

基因在不同组织中的表达图

基因引物

基因引物

正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
CTCCTGGCTATTGACTACAC
58
TAGATGAGTACAGCCAGGG
58
CTCCTGGCTATTGACTACAC
58
TAGATGAGTACAGCCAGGG
58
CTCCTGGCTATTGACTACAC
58
TAGATGAGTACAGCCAGGG
58
CTCCTGGCTATTGACTACAC
58
TAGATGAGTACAGCCAGGG
58
CTCCTGGCTATTGACTACAC
58
TAGATGAGTACAGCCAGGG
58
ACACCTCCTGGCTATTGAC
59
AGTGGTTGCTGAAGTTGTG
59
ACACCTCCTGGCTATTGAC
59
AGTGGTTGCTGAAGTTGTG
59
ACACCTCCTGGCTATTGAC
59
AGTGGTTGCTGAAGTTGTG
59
ACACCTCCTGGCTATTGAC
59
AGTGGTTGCTGAAGTTGTG
59
ACACCTCCTGGCTATTGAC
59
AGTGGTTGCTGAAGTTGTG
59

转录因子

转录因子

      尚未收录相关数据

基因本体信息

AQP1基因（以及对应的蛋白质）的细胞分布位置：

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 质膜
  • 细胞质
  • 细胞外
  • 高尔基体
  • 囊泡
  • 细胞骨架
  • 内质网
  • 细胞核
  • 内体
  • 溶酶体
  • 线粒体

AQP1基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0003091
P29972 (UniProtKB)
TAS
GO:0003097
P29972 (UniProtKB)
IDA
GO:0005223
P29972 (UniProtKB)
IDA
GO:0005267
P29972 (UniProtKB)
IMP
GO:0005372
P29972 (UniProtKB)
IDA
GO:0005372
P29972 (UniProtKB)
IDA
GO:0005372
P29972 (UniProtKB)
IDA
GO:0005372
P29972 (UniProtKB)
IDA
GO:0005372
P29972 (UniProtKB)
IDA
GO:0005372
P29972 (UniProtKB)
IDA
GO:0005372
P29972 (UniProtKB)
IDA
GO:0005372
P29972 (UniProtKB)
IDA
GO:0005372
P29972 (UniProtKB)
IDA
GO:0005515
P29972 (UniProtKB)
IPI
GO:0005515
P29972 (UniProtKB)
IPI
GO:0005515
P29972 (UniProtKB)
IPI
GO:0005515
P29972 (UniProtKB)
IPI
GO:0005515
P29972 (UniProtKB)
IPI
GO:0005515
P29972 (UniProtKB)
IPI
GO:0005515
P29972 (UniProtKB)
IPI
GO:0005515
P29972 (UniProtKB)
IPI
GO:0005515
P29972 (UniProtKB)
IPI
GO:0005515
P29972 (UniProtKB)
IPI
GO:0005515
P29972 (UniProtKB)
IPI
GO:0005515
P29972 (UniProtKB)
IPI
GO:0005515
P29972 (UniProtKB)
IPI
GO:0005515
P29972 (UniProtKB)
IPI
GO:0005515
P29972 (UniProtKB)
IPI
GO:0005515
P29972 (UniProtKB)
IPI
GO:0005515
P29972 (UniProtKB)
IPI
GO:0005515
P29972 (UniProtKB)
IPI
GO:0005515
P29972 (UniProtKB)
IPI
GO:0005515
P29972 (UniProtKB)
IPI
GO:0005515
P29972 (UniProtKB)
IPI
GO:0005515
P29972 (UniProtKB)
IPI
GO:0005515
P29972 (UniProtKB)
IPI
GO:0005515
P29972 (UniProtKB)
IPI
GO:0005515
P29972 (UniProtKB)
IPI
GO:0005515
P29972 (UniProtKB)
IPI
GO:0005515
P29972 (UniProtKB)
IPI
GO:0005515
P29972 (UniProtKB)
IPI
GO:0005515
P29972 (UniProtKB)
IPI
GO:0005515
P29972 (UniProtKB)
IPI
GO:0005515
P29972 (UniProtKB)
IPI
GO:0005515
P29972 (UniProtKB)
IPI
GO:0005515
P29972 (UniProtKB)
IPI
GO:0005515
P29972 (UniProtKB)
IPI
GO:0005515
P29972 (UniProtKB)
IPI
GO:0005515
P29972 (UniProtKB)
IPI
GO:0005515
P29972 (UniProtKB)
IPI
GO:0005515
P29972 (UniProtKB)
IPI
GO:0005515
P29972 (UniProtKB)
IPI
GO:0005634
P29972 (UniProtKB)
IDA
GO:0005737
P29972 (UniProtKB)
IDA
GO:0005737
P29972 (UniProtKB)
IDA
GO:0005737
P29972 (UniProtKB)
IDA
GO:0005737
P29972 (UniProtKB)
IDA
GO:0005886
P29972 (UniProtKB)
IDA
GO:0005886
P29972 (UniProtKB)
IDA
GO:0005886
P29972 (UniProtKB)
IDA
GO:0005886
P29972 (UniProtKB)
IDA
GO:0005886
P29972 (UniProtKB)
IDA
GO:0005886
P29972 (UniProtKB)
IDA
GO:0005886
P29972 (UniProtKB)
IDA
GO:0005886
P29972 (UniProtKB)
IDA
GO:0005886
P29972 (UniProtKB)
IDA
GO:0005886
P29972 (UniProtKB)
IDA
GO:0005886
P29972 (UniProtKB)
IDA
GO:0005886
P29972 (UniProtKB)
IDA
GO:0005886
P29972 (UniProtKB)
TAS
GO:0005886
P29972 (UniProtKB)
TAS
GO:0005886
P29972 (UniProtKB)
TAS
GO:0005886
P29972 (UniProtKB)
TAS
GO:0005886
P29972 (UniProtKB)
TAS
GO:0005886
P29972 (UniProtKB)
TAS
GO:0005887
P29972 (UniProtKB)
TAS
GO:0005903
P29972 (UniProtKB)
IDA
GO:0005903
P29972 (UniProtKB)
IDA
GO:0006182
P29972 (UniProtKB)
IDA
GO:0006813
P29972 (UniProtKB)
ISS
GO:0006833
P29972 (UniProtKB)
IDA
GO:0006833
P29972 (UniProtKB)
IDA
GO:0006833
P29972 (UniProtKB)
IDA
GO:0006833
P29972 (UniProtKB)
IDA
GO:0006833
P29972 (UniProtKB)
IMP
GO:0006833
P29972 (UniProtKB)
IDA
GO:0006833
P29972 (UniProtKB)
IDA
GO:0006833
P29972 (UniProtKB)
IDA
GO:0006833
P29972 (UniProtKB)
IDA
GO:0006833
P29972 (UniProtKB)
TAS
GO:0006884
P29972 (UniProtKB)
IMP
GO:0008519
P29972 (UniProtKB)
IDA
GO:0009925
P29972 (UniProtKB)
IDA
GO:0009992
P29972 (UniProtKB)
IBA
GO:0015079
P29972 (UniProtKB)
ISS
GO:0015168
P29972 (UniProtKB)
IDA
GO:0015168
P29972 (UniProtKB)
IDA
GO:0015250
P29972 (UniProtKB)
EXP
GO:0015250
P29972 (UniProtKB)
EXP
GO:0015250
P29972 (UniProtKB)
EXP
GO:0015250
P29972 (UniProtKB)
EXP
GO:0015250
P29972 (UniProtKB)
EXP
GO:0015250
P29972 (UniProtKB)
EXP
GO:0015250
P29972 (UniProtKB)
EXP
GO:0015250
P29972 (UniProtKB)
IDA
GO:0015250
P29972 (UniProtKB)
EXP
GO:0015250
P29972 (UniProtKB)
EXP
GO:0015250
P29972 (UniProtKB)
EXP
GO:0015250
P29972 (UniProtKB)
EXP
GO:0015250
P29972 (UniProtKB)
EXP
GO:0015250
P29972 (UniProtKB)
EXP
GO:0015250
P29972 (UniProtKB)
EXP
GO:0015250
P29972 (UniProtKB)
EXP
GO:0015250
P29972 (UniProtKB)
EXP
GO:0015250
P29972 (UniProtKB)
EXP
GO:0015250
P29972 (UniProtKB)
IMP
GO:0015250
P29972 (UniProtKB)
EXP
GO:0015250
P29972 (UniProtKB)
EXP
GO:0015250
P29972 (UniProtKB)
EXP
GO:0015250
P29972 (UniProtKB)
EXP
GO:0015250
P29972 (UniProtKB)
EXP
GO:0015250
P29972 (UniProtKB)
EXP
GO:0015254
P29972 (UniProtKB)
IBA
GO:0015670
P29972 (UniProtKB)
IDA
GO:0015670
P29972 (UniProtKB)
IDA
GO:0015670
P29972 (UniProtKB)
IDA
GO:0015696
P29972 (UniProtKB)
IDA
GO:0015696
P29972 (UniProtKB)
IDA
GO:0015701
P29972 (UniProtKB)
TAS
GO:0015701
P29972 (UniProtKB)
TAS
GO:0015793
P29972 (UniProtKB)
IDA
GO:0015793
P29972 (UniProtKB)
IDA
GO:0016323
P29972 (UniProtKB)
IDA
GO:0016323
P29972 (UniProtKB)
IDA
GO:0016323
P29972 (UniProtKB)
IDA
GO:0016323
P29972 (UniProtKB)
IDA
GO:0016323
P29972 (UniProtKB)
IDA
GO:0016323
P29972 (UniProtKB)
IDA
GO:0016323
P29972 (UniProtKB)
IDA
GO:0016324
P29972 (UniProtKB)
IDA
GO:0016324
P29972 (UniProtKB)
IDA
GO:0016324
P29972 (UniProtKB)
IDA
GO:0016324
P29972 (UniProtKB)
IDA
GO:0016324
P29972 (UniProtKB)
IDA
GO:0016324
P29972 (UniProtKB)
IDA
GO:0016324
P29972 (UniProtKB)
IDA
GO:0019725
P29972 (UniProtKB)
IDA
GO:0020003
P29972 (UniProtKB)
ISS
GO:0021670
P29972 (UniProtKB)
IEP
GO:0022857
P29972 (UniProtKB)
IDA
GO:0030157
P29972 (UniProtKB)
IEP
GO:0030184
P29972 (UniProtKB)
IDA
GO:0030185
P29972 (UniProtKB)
IDA
GO:0030950
P29972 (UniProtKB)
IMP
GO:0031526
P29972 (UniProtKB)
IDA
GO:0031965
P29972 (UniProtKB)
IDA
GO:0033326
P29972 (UniProtKB)
IEP
GO:0033554
P29972 (UniProtKB)
IDA
GO:0034644
P29972 (UniProtKB)
IDA
GO:0035377
P29972 (UniProtKB)
IDA
GO:0035378
P29972 (UniProtKB)
IDA
GO:0035379
P29972 (UniProtKB)
IDA
GO:0035379
P29972 (UniProtKB)
TAS
GO:0035379
P29972 (UniProtKB)
TAS
GO:0042383
P29972 (UniProtKB)
IDA
GO:0042476
P29972 (UniProtKB)
IEP
GO:0042493
P29972 (UniProtKB)
IDA
GO:0043066
P29972 (UniProtKB)
IDA
GO:0043154
P29972 (UniProtKB)
IMP
GO:0045177
P29972 (UniProtKB)
IDA
GO:0045766
P29972 (UniProtKB)
IMP
GO:0046878
P29972 (UniProtKB)
IMP
GO:0046878
P29972 (UniProtKB)
IMP
GO:0048146
P29972 (UniProtKB)
IDA
GO:0050891
P29972 (UniProtKB)
IEP
GO:0070062
P29972 (UniProtKB)
IDA
GO:0070062
P29972 (UniProtKB)
IDA
GO:0070062
P29972 (UniProtKB)
IDA
GO:0070062
P29972 (UniProtKB)
IDA
GO:0070301
P29972 (UniProtKB)
IDA
GO:0071241
P29972 (UniProtKB)
IDA
GO:0071260
P29972 (UniProtKB)
IDA
GO:0071280
P29972 (UniProtKB)
IDA
GO:0071280
P29972 (UniProtKB)
IDA
GO:0071288
P29972 (UniProtKB)
IDA
GO:0071288
P29972 (UniProtKB)
IDA
GO:0071288
P29972 (UniProtKB)
IDA
GO:0071288
P29972 (UniProtKB)
IDA
GO:0071288
P29972 (UniProtKB)
IDA
GO:0071300
P29972 (UniProtKB)
IDA
GO:0071300
P29972 (UniProtKB)
IDA
GO:0071320
P29972 (UniProtKB)
IEP
GO:0071320
P29972 (UniProtKB)
IDA
GO:0071456
P29972 (UniProtKB)
IDA
GO:0071472
P29972 (UniProtKB)
IDA
GO:0071474
P29972 (UniProtKB)
IMP
GO:0071549
P29972 (UniProtKB)
IDA
GO:0071732
P29972 (UniProtKB)
IDA
GO:0071805
P29972 (UniProtKB)
IEA
GO:0071805
P29972 (UniProtKB)
IEA
GO:0072488
P29972 (UniProtKB)
IEA
GO:0085018
P29972 (UniProtKB)
IMP
GO:0005886
P29972 (UniProtKB)
IDA
GO:0020005
P29972 (UniProtKB)
IDA

基因相关microRNA

基因相关microRNA

可能调控 AQP1基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

Reactome

MINT

BioGrid

IntAct

mentha

String

基因与其他基因之间的相互作用关系图
序号 作用方式 资源库来源/分值 基因名称 基因名称

基因通路

基因通路

基因相关疾病

基因相关疾病

疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
Hypertensive disease 0.2 2 0 CTD_human_RGD
Adenoid Cystic Carcinoma 0.120271442 2 0 BeFree_CTD_human
Mammary Neoplasms, Experimental 0.12 1 0 CTD_human
Edema, Cardiac 0.12 1 0 CTD_human
Hyperthyroidism 0.12 1 0 CTD_human
Salivary Gland Neoplasms 0.12 1 0 CTD_human
Septic Shock 0.12 1 0 CTD_human
Animal Mammary Neoplasms 0.12 1 0 CTD_human
Pain 0.12 1 0 CTD_human
Hydrocephalus 0.080271442 2 0 BeFree_RGD

基因相关服务

基因相关服务

联系方式

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