1. Gene
  2. ATP1B1 - ATPase Na+/K+ transporting subunit beta 1 Gene

ATP1B1 - ATPase Na+/K+ transporting subunit beta 1 Gene

中文名称:ATPase Na+/K+ 转运亚基 beta 1

种属: Homo sapiens

同用名: ATP1B

基因 ID: 481 | 基因类型: protein coding

关于 ATP1B1

Cytogenetic location: 1q24.2 Genomic coordinates (GRCh38): 1:169,106,690-169,132,719 (from NCBI)

This gene has 19 transcripts (splice variants), 293 orthologues, 4 paralogues and is associated with 1 phenotype. Broad expression in kidney (RPKM 716.2), brain (RPKM 270.1) and 14 other tissues.

功能概要

该基因编码的蛋白质属于 Na+/K+ 和 H+/K+ ATPases β 链蛋白家族,以及 Na+/K+ -ATPases 亚家族。 Na+/K+ -ATPase 是一种完整的膜蛋白,负责建立和维持 Na 和 K 离子跨质膜的电化学梯度。这些梯度对于渗透调节、各种有机和无机分子的钠偶联转运以及神经和肌肉的电兴奋性至关重要。这种酶由两个亚基组成,一个大的催化亚基 (α) 和一个较小的糖蛋白亚基 (β) 。 β 亚基通过组装 α/β 异二聚体来调节输送到质膜的钠泵的数量。 Na+/K+ -ATPase 的糖蛋白亚基由多个基因编码。该基因编码一个 beta 1 亚基。已经描述了编码不同亚型的选择性剪接转录物变体,但它们的生物学有效性尚不清楚。[RefSeq 提供,2010 年 3 月]

The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This Enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 1 subunit. Alternatively spliced transcript variants encoding different isoforms have been described, but their biological validity is not known. [provided by RefSeq, Mar 2010]

ATP1B1 基因产物(1)

mRNA Protein Name
NM_001677.4 NP_001668.1 sodium/potassium-transporting ATPase subunit beta-1

ATP1B1 蛋白结构

Na_K-ATPase

Na_K-ATPase: Sodium / potassium ATPase beta chain (2 - 298)

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

sodium/potassium-transporting ATPase subunit beta-1

ATPase, Na+/K+ transporting, beta 1 polypeptide

重组 ATP1B1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P75586 ATP1B1 Protein, Human (HEK293, His) P05026-1 (E63-S303) ≥95%

关联疾病

疾病名称 别名
Hypertension, Essential

Essential Hypertension

Hypertension

High Blood Pressure

Hypertension, Essential, Susceptibility To

Hypertensive Disease

Primary Hypertension

EHT

Hypertension, Salt-Sensitive Essential, Susceptibility To

Hyperpiesia

Idiopathic Hypertension

Hypertensive Disorder

Hypertension, Essential, Susceptibility To, 3

Hypertension, Essential 3

Hypertension, Essential, Salt-Sensitive

Hypertension, Essential, Susceptibility To, 6

Hypertension, Essential 6

Hypertension, Salt-Sensitive Essential

Hypertension, Susceptibility To

Hypertension, Essential, Susceptibility To, 4

Hypertension, Essential 4

Hypertension, Essential, Susceptibility To, 2

Hypertension, Essential 2

Hypertension, Essential, Susceptibility To, 1

Hypertension, Essential 1

Hypertension, Essential, Susceptibility To, 5

Hypertension, Essential 5

Htn

Vascular Hypertensive Disorder

Systemic Primary Arterial Hypertension

Hbp - [High Blood Pressure]

Systemic Arterial Hypertensive Disorder

Elevated Blood Pressure

Arterial Hypertension Nos

Hypertension Nos

Benign Hypertension

Systemic Arterial Hypertension

Systemic Hypertension

Artery Htn

Benign Htn

Vascular Htn

Vascular Hypertension

Cholesterol Hypertension

Cholesterol Htn

Idiopathic Htn

Malignant Hypertension

Malignant Htn

Raised Blood Pressure

Cardiovascular Hypertension

Primary Htn - [Hypertension]

High Arterial Tension

High Blood Pressure Disorder

Ht - [Hypertension]

Htn - [Hypertension]

Hypertensive Vascular Disease

Hypertensive Vascular Degeneration

Familial Hemiplegic Migraine

Hemiplegic Migraine, Familial

Hemiplegic-Ophthalmoplegic Migraine

Fhm

Hemiplegic Migraine Familial

Petroclival Meningioma
Fibrolamellar Carcinoma

Fibrolamellar Hepatocellular Carcinoma

Fhcc

Fibrolamellar Hepatocarcinoma

Hepatocellular Carcinoma, Fibrolamellar

Oncocytic Hepatocellular Tumor

Eosinophilic Glassy Cell Hepatoma

Eosinophilic Hepatocellular Carcinoma With Lamellar Fibrosis

Fl-Hcc

Fibrolamellar Oncocytic Hepatoma

Hepatocellular Carcinoma With Increased Stromal Fibrosis

Polygonal Cell Hepatocellular Carcinoma With Fibrous Stroma

Alternating Hemiplegia Of Childhood

Alternating Hemiplegia

Ahc

Alternating Hemiplegia Syndrome

Hemiplegia, Alternating, Of Childhood

Hemiplegia, Crossed

Fuchs' Endothelial Dystrophy

Fuchs Endothelial Corneal Dystrophy

Fuchs Endothelial Dystrophy

Fuchs Dystrophy

Fced

Fuchs' Corneal Dystrophy

Fuchs' Endothelial Corneal Dystrophy

Fuchs Atrophy

Fuchs Corneal Dystrophy

Endoepithelial Corneal Dystrophy

Fecd

Late Hereditary Endothelial Dystrophy

Corneal Dystrophy, Fuchs Endothelial

Dystrophy, Corneal, Fuchs Endothelial

Corneal Dystrophy, Fuchs' Endothelial, 1

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

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
Macaca mulatta ATP1B1 VGNC VGNC:70176
Rattus norvegicus ATP1B1 RGD RGD:2170
Canis familiaris ATP1B1 VGNC VGNC:38248
Felis catus ATP1B1 VGNC VGNC:68583
Bos taurus ATP1B1 VGNC VGNC:26285
Mus musculus ATP1B1 MGD MGI:88108
Others ATP1B1 NCBI