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

Also Known as CMT2DD; HOMGSMR2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 476

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables P-type sodium:potassium-exchanging transporter activity	IDA IDA: Inferred from direct assay	10636900	GOA
enables P-type sodium:potassium-exchanging transporter activity	IGI IGI: Inferred from genetic interaction	18052210	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11027149	GOA
enables protein-folding chaperone binding	IPI IPI: Inferred from physical interaction	10636900	GOA
enables steroid hormone binding	IDA IDA: Inferred from direct assay	14742675	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular response to steroid hormone stimulus	IDA IDA: Inferred from direct assay	11546672	GOA
involved in intracellular potassium ion homeostasis	IDA IDA: Inferred from direct assay	10636900	GOA
involved in intracellular sodium ion homeostasis	IDA IDA: Inferred from direct assay	10636900	GOA
involved in membrane repolarization	IDA IDA: Inferred from direct assay	19542013	GOA
involved in potassium ion import across plasma membrane	IDA IDA: Inferred from direct assay	10636900	GOA
involved in response to glycoside	IDA IDA: Inferred from direct assay	11546672	GOA
involved in sodium ion export across plasma membrane	IDA IDA: Inferred from direct assay	10636900	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in T-tubule	IGI IGI: Inferred from genetic interaction	19751721	GOA
located in apical plasma membrane	IDA IDA: Inferred from direct assay	11193188	GOA
located in lateral plasma membrane	IDA IDA: Inferred from direct assay	11193188	GOA
located in organelle membrane	IGI IGI: Inferred from genetic interaction	19751721	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	7711835	GOA
located in plasma membrane	IGI IGI: Inferred from genetic interaction	19751721	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	22797923	GOA
part of sodium:potassium-exchanging ATPase complex	IDA IDA: Inferred from direct assay	10636900	GOA
part of sodium:potassium-exchanging ATPase complex	IGI IGI: Inferred from genetic interaction	18052210	GOA
part of sodium:potassium-exchanging ATPase complex	IPI IPI: Inferred from physical interaction	35803952	GOA
located in sperm flagellum	IDA IDA: Inferred from direct assay	16861705	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ATP1A1 Protein Structure

Cation_ATPase_N

E1-E2_ATPase

Hydrolase

Cation_ATPase_C

0
200
400
600
800
1023 a.a.

Protein Preferred Names	Protein Names
sodium/potassium-transporting ATPase subunit alpha-1	ATPase, Na+/K+ transporting, alpha 1 polypeptide

ATP1A1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ATP1A1	P05023	TPT1	Homo sapiens	P13693	Anti Bait CoIP	21278788
Intra	ATP1A1	P05023	TPT1	Homo sapiens	P13693	Anti Bait CoIP	16730713
Intra	ATP1A1	P05023	ATP1B1	Homo sapiens	P05026	Fluorescence Spectr	21228272
Intra	ATP1A1	P05023	ATP1B1	Homo sapiens	P05026	GMS	35803952
Intra	ATP1A1	P05023	ATP1B1	Homo sapiens	P05026	3D-EM	35803952
Intra	ATP1A1	P05023	ATP1B1	Homo sapiens	P05026	Crosslink	30021884
Intra	ATP1A1	P05023	ATP1B1	Homo sapiens	P05026	Anti Tag CoIP	35271311
Intra	ATP1A1	P05023	ATP1B1	Homo sapiens	P05026	TSA	21228272
Intra	ATP1A1	P05023	NDRG1	Homo sapiens	Q92597	Anti Tag CoIP	35271311

Cross: Cross-species interaction Intra: Intraspecies interaction

ATP1A1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80537	Sodium Potassium ATPase Antibody	WB, IHC-P, ICC/IF, FC	Human, Mouse, Rat
HY-P83949	Sodium Potassium ATPase Antibody (YA3646)	WB, IHC-P, ICC/IF, FC, ELISA	Human
HY-P83949A	Sodium Potassium ATPase Antibody (YA3646)(PBS only)	WB, IHC-P, ICC/IF, FC, ELISA	Human
HY-P85863	Sodium Potassium ATPase Antibody (YA5555)	IHC-P, ICC/IF, ELISA	Human, Mouse, Rat
HY-P86104	Sodium Potassium ATPase Antibody (YA5796)	WB, IHC-P, ICC/IF, IP, ELISA	Human, Mouse, Rat
HY-P86665	Sodium Potassium ATPase Antibody (YA6357)	WB, IHC-P, IHC-F, ICC/IF, IF-Tissue, FC	Human, Mouse, Rat

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Phase
HY-Y0344D	Sodium chloride, for cell culture	Activator	99.9%	Phase 4
HY-Y0344J	Sodium chloride, for molecular biology		99.97%	Phase 4
HY-Y0344I	Sodium chloride, meets analytical specification of Ph. Eur. BP USP, ≤0.00002% Al		99.99%	Phase 4
HY-Y0344H	Sodium chloride, United States Pharmacopeia (USP) Reference Standard		/	Phase 4
HY-12283	Rostafuroxin		98.02%	Phase 2

Pre-clinical Phase

Bioactive Molecules (12)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-N2414	Periplogenin		≥99.70%	Unkown
HY-P2657	Verucopeptin	Inhibitor	97.0%	Unkown
HY-P1565A	Transdermal Peptide Disulfide TFA	Inhibitor	99.95%	Unkown
HY-RS01182	ATP1A1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-P1565	Transdermal Peptide Disulfide	Inhibitor	98.79%	Unkown
HY-RS16918	Atp1a1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS01184	ATP1A3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS01185	ATP1A4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS01186	ATP1B1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21097	Atp1b1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23361	Atp1a1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27615	Atp1b1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	ATP1A1	NCBI