1. Gene
  2. ATP1A1 - ATPase Na+/K+ transporting subunit alpha 1 Gene

ATP1A1 - ATPase Na+/K+ transporting subunit alpha 1 Gene

中文名称:ATPase Na+/K+ 转运亚基 alpha 1

种属: Homo sapiens

同用名: CMT2DD; HOMGSMR2

基因 ID: 476 | 基因类型: protein coding

关于 ATP1A1

Cytogenetic location: 1p13.1 Genomic coordinates (GRCh38): 1:116,373,244-116,404,774 (from NCBI)

This gene has 11 transcripts (splice variants), 330 orthologues, 21 paralogues and is associated with 59 phenotypes. Broad expression in kidney (RPKM 278.0), thyroid (RPKM 226.4) and 25 other tissues.

功能概要

该基因编码的蛋白质属于 P 型阳离子转运 ATP 酶家族,属于 Na+/K+ -ATP 酶亚家族。 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) 。 Na+/K+ -ATPase 的催化亚基由多个基因编码。该基因编码一个 alpha 1 亚基。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2009 年 5 月]

The protein encoded by this gene belongs to the family of P-type cation transport ATPases, 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 catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 1 subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

ATP1A1 基因产物(3)

mRNA Protein Name
NM_000701.8 NP_000692.2 sodium/potassium-transporting ATPase subunit alpha-1 isoform a
NM_001160233.2 NP_001153705.1 sodium/potassium-transporting ATPase subunit alpha-1 isoform c
NM_001160234.2 NP_001153706.1 sodium/potassium-transporting ATPase subunit alpha-1 isoform d
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 P-type sodium:potassium-exchanging transporter activity IDA
IDA: 通过直接分析推断
10636900 GOA
enables P-type sodium:potassium-exchanging transporter activity IGI
IGI: 通过遗传相互作用推断
18052210 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11027149 GOA
enables protein-folding chaperone binding IPI
IPI: 通过物理相互作用推断
10636900 GOA
enables steroid hormone binding IDA
IDA: 通过直接分析推断
14742675 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to steroid hormone stimulus IDA
IDA: 通过直接分析推断
11546672 GOA
involved in intracellular potassium ion homeostasis IDA
IDA: 通过直接分析推断
10636900 GOA
involved in intracellular sodium ion homeostasis IDA
IDA: 通过直接分析推断
10636900 GOA
involved in membrane repolarization IDA
IDA: 通过直接分析推断
19542013 GOA
involved in potassium ion import across plasma membrane IDA
IDA: 通过直接分析推断
10636900 GOA
involved in response to glycoside IDA
IDA: 通过直接分析推断
11546672 GOA
involved in sodium ion export across plasma membrane IDA
IDA: 通过直接分析推断
10636900 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in T-tubule IGI
IGI: 通过遗传相互作用推断
19751721 GOA
located in apical plasma membrane IDA
IDA: 通过直接分析推断
11193188 GOA
located in lateral plasma membrane IDA
IDA: 通过直接分析推断
11193188 GOA
located in organelle membrane IGI
IGI: 通过遗传相互作用推断
19751721 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
7711835 GOA
located in plasma membrane IGI
IGI: 通过遗传相互作用推断
19751721 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
22797923 GOA
part of sodium:potassium-exchanging ATPase complex IDA
IDA: 通过直接分析推断
10636900 GOA
part of sodium:potassium-exchanging ATPase complex IGI
IGI: 通过遗传相互作用推断
18052210 GOA
part of sodium:potassium-exchanging ATPase complex IPI
IPI: 通过物理相互作用推断
35803952 GOA
located in sperm flagellum IDA
IDA: 通过直接分析推断
16861705 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

ATP1A1 蛋白结构

Cation_ATPase_N

Cation_ATPase_N: Cation transporter/ATPase, N-terminus (44 - 111)

E1-E2_ATPase

E1-E2_ATPase: E1-E2 ATPase (136 - 366)

Hydrolase

Hydrolase: haloacid dehalogenase-like hydrolase (371 - 729)

Cation_ATPase_C

Cation_ATPase_C: Cation transporting ATPase, C-terminus (799 - 1008)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1023 a.a.
蛋白主名 其他名称

sodium/potassium-transporting ATPase subunit alpha-1

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

ATP1A1 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
ATP1A1 P05023 TPT1 Homo sapiens P13693 21278788
种属内
ATP1A1 P05023 TPT1 Homo sapiens P13693 16730713
种属内
ATP1A1 P05023 ATP1B1 Homo sapiens P05026 21228272
种属内
ATP1A1 P05023 ATP1B1 Homo sapiens P05026
GMS
35803952
种属内
ATP1A1 P05023 ATP1B1 Homo sapiens P05026 35803952
种属内
ATP1A1 P05023 ATP1B1 Homo sapiens P05026 30021884
种属内
ATP1A1 P05023 ATP1B1 Homo sapiens P05026 35271311
种属内
ATP1A1 P05023 ATP1B1 Homo sapiens P05026
TSA
21228272
种属内
ATP1A1 P05023 NDRG1 Homo sapiens Q92597 35271311
种属间: 跨种属相互作用 种属内: 同种属相互作用

ATP1A1 抗体

目录号 产品名 应用 反应物种
HY-P80537 ATP1A1 Antibody WB, IHC-P, ICC/IF, FC Human, Mouse, Rat

关联疾病

疾病名称 别名
Charcot-Marie-Tooth Disease, Axonal, Type 2dd

CMT2DD

Charcot-Marie-Tooth Neuropathy, Type 2dd

Charcot-Marie-Tooth Disease Type 2dd

Atp1a1-Related Autosomal Dominant Charcot-Marie-Tooth Disease Type 2

Atp1a1-Related Cmt2

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2dd

Charcot-Marie-Tooth Disease 2dd

Hypomagnesemia, Seizures, And Mental Retardation 2

Hypomagnesemia, Seizures, And Intellectual Disability 2

HOMGSMR2

Hypomagnesemia, Seizures, And Mental Retardation Type 2

Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Charcot-Marie-Tooth Disease

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies

Alternating Hemiplegia Of Childhood

Alternating Hemiplegia

Ahc

Alternating Hemiplegia Syndrome

Hemiplegia, Alternating, Of Childhood

Hemiplegia, Crossed

Parkinson Disease 14, Autosomal Recessive

PARK14

Dystonia-Parkinsonism, Adult-Onset

Autosomal Recessive Parkinson Disease 14

Parkinson'S Disease 14

Dystonia-Parkinsonism Adult-Onset

Adult-Onset Dystonia-Parkinsonism

Dystonia-Parkinsonism, Paisan-Ruiz Type

Pla2g6-Related Dystonia-Parkinsonism

Parkinson Disease 14

Autosomal Recessive Parkinson'S Disease 14

Nbia/Dyt/Park-Pla2g6

Dystonia-Parkinsonism Paisan-Ruiz Type

Parkinson Disease 14 Autosomal Recessive

Parkinson Disease, Type 14

Conn'S Syndrome

Cushing Syndrome

Hyperaldosteronism

Primary Hyperaldosteronism

Hypercortisolism

Primary Aldosteronism

Cushing'S Syndrome

Adrenal Gland Hyperfunction

Conn Syndrome

Hyperadrenalism

Ectopic Acth Syndrome

Hyperadrenocorticism

Cushing Disease

Cushing'S Disease

Adrenal Cortex Adenoma

Corticotroph Pituitary Adenoma

Pituitary Corticotroph Micro-Adenoma

Pituitary-Dependent Cushing Syndrome

Pituitary Acth Hypersecretion

Acth Syndrome, Ectopic

Acth-Secreting Pituitary Adenoma

Adrenal Hyperfunction Resulting From Pituitary Acth Excess

Ectopic Adrenocorticotropic Hormone Syndrome

Nodular Primary Adrenocortical Dysplasia

Pituitary Dependent Cushing Syndrome

Pituitary Cushing Syndrome

Pituitary-Dependant Cushing Syndrome

Pituitary-Dependant Hypercortisolism

Pituitary-Dependant Hypercortisolism Disorder

Aldosteronism Primary

Acth Syndrome Ectopic

Adrenal Cushing'S Syndrome

Adrenal Cortical Adenoma

Cushing Syndrome Nos

Cortisol Hypersecretion

Corticoadrenal Hypersecretion

Cushing Syndrome Secondary To Ectopic Acth-Secretion

Ectopic Cushing Syndrome

Hypercortisolism Due To Nonpituitary Tumour

Ectopic Acth - [Adrenocorticotropic Hormone] Secretion

Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Causing Cushing Syndrome

Idiopathic Aldosteronism

Aldosteronism

Primary Aldosteronism Due To Bilateral Adrenal Hyperplasia

Primary Aldosteronism Due To Adrenal Hyperplasia

Tooth Disease

Tooth Diseases

Teeth Disease

Tooth Disorders

Parastremmatic Dwarfism

Parastremmatic Dysplasia

PSTD

Dwarfism, Parastremmatic

Hypomagnesemia 2, Renal

Renal Hypomagnesemia 2

HOMG2

Magnesium Wasting, Renal

Autosomal Dominant Primary Hypomagnesemia With Hypocalciuria

Magnesium Loss, Isolated Renal

Isolated Autosomal Dominant Hypomagnesemia

Isolated Renal Magnesium Wasting

Renal Hypomagnesemia Type 2

Hypomagnesemia 2

Dominant Renal Hypomagnesemia

Hypomagnesemia With Hypocalciuria

Isolated Renal Magnesium Loss

Renal Magnesium Wasting

Hypomagnesemia-2, Renal

Renal Hypomagnesemia, Dominant

Hypomagnesemia, Type 2, Renal

Adrenal Carcinoma

Adrenal Cancer

Adrenal Gland Cancer

Malignant Neoplasm Of Adrenal Gland

Adrenal Gland Neoplasms

Carcinoma Of The Adrenal Gland

Adrenal Neoplasm

Malignant Adrenal Tumor

Neoplasm Of Adrenal Gland

Tumor Of The Adrenal Gland

Adrenal Gland Neoplasm

Adrenocortical Carcinoma

Adrenal Gland Malignancy

Suprarenal Cancer

Malignant Neoplasm Of Suprarenal Gland

Malignant Neoplasm Of Adrenal Gland, Unspecified

Malignant Tumour Of Adrenal Gland

Suprarenal Gland Cancer

Primary Malignant Neoplasm Of Adrenal Gland

Hyperaldosteronism, Familial, Type I

Glucocorticoid-Remediable Aldosteronism

Gra

Familial Hyperaldosteronism Type 1

Hyperaldosteronism, Familial Type 1

HALD1

Fh I

Glucocorticoid-Suppressible Hyperaldosteronism

Gsh

Acth-Dependent Hyperaldosteronism Syndrome

Aldosteronism, Glucocorticoid-Remediable

Dexamethasone Sensitive Hypertension

Glucocorticoid Sensitive Hypertension

Familial Hyperaldosteronism Type I

Fh1

Aldosteronism, Sensitive To Dexamethasone

Dexamethasone-Sensitive Hypertension

Fh-I

Glucocorticoid-Sensitive Hypertension

Hyperaldosteronism, Familial, 1

Aldosteronism Sensitive To Dexamethasone

Familial Hyperaldosteronism 1

Fh Type 1

Familial Aldosteronism Type I

Adrenal Adenoma

Adenoma Of The Adrenal Gland

Adrenal Incidentaloma

Adrenal Cortical Adenoma

Adrenocortical Adenoma

Migraine, Familial Hemiplegic, 2

FHM2

Mhp2

Migraine, Familial Basilar

Familial Hemiplegic Migraine 2

Familial Hemiplegic Migraine-2

Familiar Basilar Migraine

Migraine, Hemiplegic, Familial, Type 2

Adrenal Gland Disease

Adrenal Gland Diseases

Adrenal Gland Disorders

Primary Pigmented Nodular Adrenocortical Disease

Ppnad

Primary Pigmented Nodular Adrenal Dysplasia

Pigmented Nodular Adrenocortical Disease, Primary, 2

Pigmented Nodular Adrenocortical Disease, Primary, 1

Acth-Independent Macronodular Adrenal Hyperplasia

Acth-Independent Macronodular Adrenocortical Hyperplasia

Adrenocorticotropic Hormone-Independent Macronodular Adrenal Hyperplasia

Corticotropin-Independent Macronodular Adrenal Hyperplasia

Cushing Syndrome Due To Macronodular Adrenal Hyperplasia

AIMAH1

Aimah

Massive Macronodular Adrenocortical Disease

Mmad

Primary Macronodular Adrenal Hyperplasia

Cushing Syndrome, Adrenal, Due To Aimah

Primary Bilateral Macronodular Adrenal Hyperplasia

Acth-Independent Macronodular Adrenal Hyperplasia 1

Acth-Independent Cushing Syndrome

Adrenal Cushing Syndrome Due To Aimah

Acth-Independent Macronodular Adrenal Hyperplasia 2

Mitochondrial Dna Depletion Syndrome 3

Deoxyguanosine Kinase Deficiency

Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

MTDPS3

Dguok Deficiency

Dguok-Related Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

Dguok-Related Mitochondrial Dna Depletion Syndrome

Hepatocerebral Mitochondrial Dna Depletion Syndrome

Mtdna Depletion Syndrome, Hepatocerebral Form

Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due To Dguok Deficiency

Hepatocerebral Mitochondrial Dna Deletions Syndrome Autosomal Recessive

Mitochondrial Dna Depletion Syndrome 3 Hepatocerebral Type

Mitochondrial Dna Depletion Syndrome , Type 3

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

Adrenal Cortical Carcinoma

Adrenocortical Carcinoma

Adrenal Cortex Carcinoma

Carcinoma Of The Adrenal Cortex

Acc

Adrenocortical Cancer

Carcinoma Adrenocortical

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile

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
Bos taurus ATP1A1 VGNC VGNC:26282
Macaca mulatta ATP1A1 VGNC VGNC:70175
Mus musculus ATP1A1 MGD MGI:88105
Rattus norvegicus ATP1A1 RGD RGD:2167
Felis catus ATP1A1 VGNC VGNC:68560
Canis familiaris ATP1A1 VGNC VGNC:38245