1. Gene
  2. AQP7 - aquaporin 7 Gene

AQP7 - aquaporin 7 Gene

中文名称:水通道蛋白 7

种属: Homo sapiens

同用名: AQP7L; AQPap; GLYCQTL

基因 ID: 364 | 基因类型: protein coding

关于 AQP7

Cytogenetic location: 9p13.3 Genomic coordinates (GRCh38): 9:33,383,191-33,402,568 (from NCBI)

This gene has 19 transcripts (splice variants), 202 orthologues, 11 paralogues and is associated with 1 phenotype. Biased expression in fat (RPKM 81.2), heart (RPKM 10.9) and 3 other tissues.

功能概要

该基因编码水选择性膜通道水通道蛋白家族的成员。编码的蛋白质定位于质膜并允许水、甘油和尿素移动穿过细胞膜。该基因在脂肪组织中高度表达,其中编码的蛋白质促进甘油的流出。在肾脏的近端直管中,编码的蛋白质定位于顶膜并阻止甘油排泄到尿液中。编码的蛋白质存在于精子细胞以及睾丸和附睾精子中,表明在晚期精子发生中具有重要作用。该基因的可变剪接导致编码不同亚型的多个转录变体。该基因位于 9 号染色体上的相关水通道蛋白基因附近。已鉴定出该基因的多个假基因。[RefSeq 提供,2015 年 12 月]

This gene encodes a member of the Aquaporin family of water-selective membrane channels. The encoded protein localizes to the plasma membrane and allows movement of water, glycerol and urea across cell membranes. This gene is highly expressed in the adipose tissue where the encoded protein facilitates efflux of glycerol. In the proximal straight tubules of kidney, the encoded protein is localized to the apical membrane and prevents excretion of glycerol into urine. The encoded protein is present in spermatids, as well as in the testicular and epididymal spermatozoa suggesting an important role in late spermatogenesis. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. This gene is located adjacent to a related Aquaporin gene on chromosome 9. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Dec 2015]

AQP7 基因产物(7)

mRNA Protein Name
NM_001170.3 NP_001161.1 aquaporin-7 isoform 1
NM_001318156.2 NP_001305085.1 aquaporin-7 isoform 2
NM_001318157.2 NP_001305086.1 aquaporin-7 isoform 3
NM_001318158.2 NP_001305087.1 aquaporin-7 isoform 4
NM_001376191.1 NP_001363120.1 aquaporin-7 isoform 1
NM_001376192.1 NP_001363121.1 aquaporin-7 isoform 5
NM_001376193.1 NP_001363122.1 aquaporin-7 isoform 5
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 glycerol channel activity EXP
EXP: 通过实验结果推断
9405233 GOA
enables glycerol channel activity IDA
IDA: 通过直接分析推断
11952783 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
27832861 GOA
enables water channel activity IDA
IDA: 通过直接分析推断
11952783 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in glycerol transmembrane transport IDA
IDA: 通过直接分析推断
11952783 GOA
involved in water transport IDA
IDA: 通过直接分析推断
11952783 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell-cell junction IDA
IDA: 通过直接分析推断
18718702 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
18718702 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
11952783 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

AQP7 蛋白结构

MIP

MIP: Major intrinsic protein (30 - 272)

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

aquaporin-7

aquaglyceroporin-7

AQP7 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
种属内
AQP7 O14520 PLIN1 Homo sapiens O60240
Pull Down
27832861
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
Glycerol Quantitative Trait Locus

Glycerol Release During Exercise, Defective

GLYCQTL

Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis

Hydrarthrosis
Spermatogenic Failure 8

SPGF8

Constipation
Nephrogenic Diabetes Insipidus

Vasopressin-Resistant Diabetes Insipidus

Diabetes Insipidus, Nephrogenic

Diabetes Insipidus Nephrogenic

Congenital Nephrogenic Diabetes Insipidus

Adh Resistant Diabetes Insipidus

Diabetes Insipidus Nephrogenic X-Linked

Diabetes Insipidus Nephrogenic Type 1

Adh-Resistant Diabetes Insipidus

Diabetes Insipidus Renalis

Ndi

Renal Diabetes Insipidus

Familial Nephrogenic Diabetes

Antidiuretic-Hormone-Resistant Diabetes Insipidus

Adiuretin-Resistant Diabetes Insipidus

Ndi - [Nephrogenic Diabetes Insipidus]

Diabetes Tenuifluus

Adh - [Antidiuretic-Hormone] Resistant Diabetes Insipidus

Hereditary Nephrogenic Diabetes Insipidus

Familial Nephrogenic Diabetes Insipidus

Primary Nephrogenic Diabetes Insipidus

Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Type 2 Diabetes

Diabetes Mellitus, Non-Insulin-Dependent

T2D

Noninsulin-Dependent Diabetes Mellitus

Diabetes Mellitus, Type Ii

Maturity-Onset Diabetes

Insulin Resistance, Severe, Digenic

Diabetes Mellitus, Type 2

Diabetes Mellitus, Noninsulin-Dependent

Diabetes Mellitus, Noninsulin-Dependent, Association With

Diabetes Mellitus, Noninsulin-Dependent, Late Onset

Hypertension, Insulin Resistance-Related, Susceptibility To

Insulin Resistance, Susceptibility To

Non-Insulin-Dependent Diabetes Mellitus

Type Ii Diabetes Mellitus

Adult-Onset Diabetes Mellitus

Maturity-Onset Diabetes Mellitus

Diabetes Mellitus Type 2

Type Ii Diabetes

Type 2 Diabetes Mellitus, Susceptibility To

Diabetes, Type 2

Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 2, Susceptibility To

Diabetes Mellitus, Noninsulin-Dependent, 2

Diabetes Mellitus, Type Ii, Susceptibility To

Hypertension, Insulin Resistance-Related

Adult-Onset Diabetes

Aodm

Diabetes Mellitus, Adult-Onset

Diabetes Mellitus Type Ii

Diabetes Mellitus Type 2, Susceptibility To

Diabetes, Type Ii, Susceptibility To

Diabetes Type 2

Diabetes Mellitus

Adult Onset Diabetes

Maturity Onset Diabetes

Nonketotic Diabetes

Non-Insulin Dependent Diabetes Mellitus

T2dm - [Type 2 Diabetes Mellitus]

Niddm - [Non Insulin Dependent Diabetes Mellitus]

Dm2

Dm Type Ii

Diabetic Type 2

Insulin Requiring Type 2 Diabetes

Noninsulin Dependent Diabetes

Non-Insulin-Dependent Diabetes Mellitus Without Complications

Diabetes Due To Insulin Secretory Defect

Diabetes Mellitus Due To Insulin Secretory Defect

Non-Insulin-Dependent Diabetes Of The Young

Senile Diabetes

Nonketotic Hyperglycaemia

Stable Diabetes

Psoriasis 11

PSORS11

Psoriasis Susceptibility 11

Psoriasis

Psoriasis Vulgaris

Psoriasis 11, Susceptibility To

Pv

Oligohydramnios

Oligohydramnios - Delivered

Antepartum Oligohydramnios

Delivered Oligohydramnios

Oligohydramnios, Antepartum Condition Or Complication

Deficient Liquor

Oligohydramnios, Unspecified Trimester

Reduced Liquor Volume

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
Rattus norvegicus AQP7 RGD RGD:2145
Mus musculus AQP7 MGD MGI:1314647