ATP1A4 (ATPase Na+/K+ transporting subunit alpha 4)

Gene

• Entrez ID: 480
• Gene name: ATPase Na+/K+ transporting subunit alpha 4
• Gene symbol: ATP1A4
• Synonyms (NCBI Gene): ATP1A1, ATP1AL2
• Chromosome: 1
• Chromosome location: 1q23.2
• 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 o

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2177697	hsa-miR-1224-3p	CLIP-seq
MIRT2177698	hsa-miR-204	CLIP-seq
MIRT2177699	hsa-miR-211	CLIP-seq
MIRT2177700	hsa-miR-3157-5p	CLIP-seq
MIRT2177701	hsa-miR-4690-3p	CLIP-seq
MIRT2177702	hsa-miR-4755-5p	CLIP-seq
MIRT2177703	hsa-miR-4793-5p	CLIP-seq
MIRT2177704	hsa-miR-623	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005391	Function	P-type sodium:potassium-exchanging transporter activity	IBA
GO:0005391	Function	P-type sodium:potassium-exchanging transporter activity	IEA
GO:0005391	Function	P-type sodium:potassium-exchanging transporter activity	IGI	16861705
GO:0005391	Function	P-type sodium:potassium-exchanging transporter activity	ISS
GO:0005391	Function	P-type sodium:potassium-exchanging transporter activity	TAS	7809153
GO:0005515	Function	Protein binding	IPI	16861705, 32296183
GO:0005524	Function	ATP binding	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	7809153, 30280653
GO:0005886	Component	Plasma membrane	TAS
GO:0005890	Component	Sodium:potassium-exchanging ATPase complex	IBA
GO:0005890	Component	Sodium:potassium-exchanging ATPase complex	IEA
GO:0005890	Component	Sodium:potassium-exchanging ATPase complex	IPI	16861705
GO:0005890	Component	Sodium:potassium-exchanging ATPase complex	TAS	7809153
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006811	Process	Monoatomic ion transport	NAS	30280653
GO:0006813	Process	Potassium ion transport	IEA
GO:0006813	Process	Potassium ion transport	TAS	7809153
GO:0006814	Process	Sodium ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006814	Process	Sodium ion transport	TAS	7809153
GO:0006883	Process	Intracellular sodium ion homeostasis	IBA
GO:0007166	Process	Cell surface receptor signaling pathway	ISS
GO:0007283	Process	Spermatogenesis	IEA
GO:0008556	Function	P-type potassium transmembrane transporter activity	IEA
GO:0009566	Process	Fertilization	IEA
GO:0010248	Process	Establishment or maintenance of transmembrane electrochemical gradient	IEA
GO:0016020	Component	Membrane	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0019829	Function	ATPase-coupled monoatomic cation transmembrane transporter activity	IGI	16861705
GO:0019900	Function	Kinase binding	ISS
GO:0030003	Process	Intracellular monoatomic cation homeostasis	IEA
GO:0030007	Process	Intracellular potassium ion homeostasis	IBA
GO:0030317	Process	Flagellated sperm motility	IDA	12112599
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0030317	Process	Flagellated sperm motility	IMP	16861705
GO:0030641	Process	Regulation of cellular pH	IDA	12112599
GO:0035725	Process	Sodium ion transmembrane transport	IGI	16861705
GO:0035725	Process	Sodium ion transmembrane transport	ISS
GO:0036376	Process	Sodium ion export across plasma membrane	IBA
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0042995	Component	Cell projection	IBA
GO:0045121	Component	Membrane raft	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IGI	16861705
GO:0071805	Process	Potassium ion transmembrane transport	ISS
GO:0097225	Component	Sperm midpiece	IDA	16861705
GO:0097733	Component	Photoreceptor cell cilium	IDA	26373354
GO:0120200	Component	Rod photoreceptor outer segment	IDA	26373354
GO:0150104	Process	Transport across blood-brain barrier	NAS	30280653
GO:1902600	Process	Proton transmembrane transport	IBA
GO:1902600	Process	Proton transmembrane transport	TAS	7809153
GO:1990573	Process	Potassium ion import across plasma membrane	IBA

Other IDs

• MIM: 607321
• HGNC: 14073
• e!Ensembl: ENSG00000132681

Protein

• UniProt ID: Q13733
• Protein name: Sodium/potassium-transporting ATPase subunit alpha-4 (Na(+)/K(+) ATPase alpha-4 subunit) (EC 7.2.2.13) (Sodium pump subunit alpha-4)
• Protein function: This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassi
• PDB: 8ZYJ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00690	Cation_ATPase_N	51 → 119	Cation transporter/ATPase, N-terminus	Domain
  PF00122	E1-E2_ATPase	171 → 362		Family
  PF13246	Cation_ATPase	434 → 528		Family
  PF00689	Cation_ATPase_C	805 → 1014	Cation transporting ATPase, C-terminus	Family

• Tissue specificity: TISSUE SPECIFICITY: Specifically expressed in testis. Found in very low levels in skeletal muscle. Expressed in mature sperm (at protein level).
• Sequence:

  MGLWGKKGTVAPHDQSPRRRPKKGLIKKKMVKREKQKRNMEELKKEVVMDDHKLTLEELS
  TKYSVDLTKGHSHQRAKEILTRGGPNTVTPPPTTPEWVKFCKQLFGGFSLLLWTGAILCF
  VAYSIQIYFNEEPTKDNLYLSIVLSVVVIVTGCFSYYQEAKSSKIMESFKNMVPQQALVI
  RGGEKMQINVQEVVLGDLVEIKGGDRVPADLRLISAQGCKVDNSSLTGESEPQSRSPDFT
  HENPLETRNICFFSTNCVEGTARGIVIATGDSTVMGRIASLTSGLAVGQTPIAAEIEHFI
  HLITVVAVFLGVTFFALSLLLGYGWLEAIIFLIGIIVANVPEGLLATVTVCLTLTAKRMA
  RKNCLVKNLEAVETLGSTSTICSDKTGTLTQNRMTVAHMWFDMTVYEADTTEEQTGKTFT
  KSSDTWFMLARIAGLCNRADFKANQEILPIAKRATTGDASESALLKFIEQSYSSVAEMRE
  KNPKVAEIPFNSTNKYQMSIHLREDSSQTHVLMMKGAPERILEFCSTFLLNGQEYSMNDE
  MKEAFQNAYLELGGLGERVLGFCFLNLPSSFSKGFPFNTDEINFPMDNLCFVGLISMIDP
  PRAAVPDAVSKCRSAGIKVIMVTGDHPITAKAIAKGVGIISEGTETAEEVAARLKIPISK
  VDASAAKAIVVHGAELKDIQSKQLDQILQNHPEIVFARTSPQQKLIIVEGCQRLGAVVAV
  TGDGVNDSPALKKADIGIAMGISGSDVSKQAADMILLDDNFASIVTGVEEGRLIFDNLKK
  SIMYTLTSNIPEITPFLMFIILGIPLPLGTITILCIDLGTDMVPAISLAYESAESDIMKR
  LPRNPKTDNLVNHRLIGMAYGQIGMIQALAGFFTYFVILAENGFRPVDLLGIRLHWEDKY
  LNDLEDSYGQQWTYEQRKVVEFTCQTAFFVTIVVVQWADLIISKTRRNSLFQQGMRNKVL
  IFGILEETLLAAFLSYTPGMDVALRMYPLKITWWLCAIPYSILIFVYDEIRKLLIRQHPD
  GWVERETYY

• Sequence length: 1029

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANTHRACOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenoma	Adenoma	BEFREE	23416519, 25496839, 25776071, 29030398		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	CTD_human_DG	23416519, 23913004		★☆☆☆☆ Found in Text Mining only
Adenoma, Basal Cell	Adenoma	CTD_human_DG	23416519, 23913004		★☆☆☆☆ Found in Text Mining only
Adenoma, Microcystic	Adenoma	CTD_human_DG	23416519, 23913004		★☆☆☆☆ Found in Text Mining only
Adenoma, Monomorphic	Adenoma	CTD_human_DG	23416519, 23913004		★☆☆☆☆ Found in Text Mining only
Adenoma, Trabecular	Adenoma	CTD_human_DG	23416519, 23913004		★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	BEFREE	27754862		★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	26739091		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	34681640	Associate	★☆☆☆☆ Found in Text Mining only
Aldosterone-Producing Adrenal Cortex Adenoma	Aldosterone-Producing Adrenal Cortex Adenoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	38212844	Associate	★☆☆☆☆ Found in Text Mining only
Anthracosis	Anthracosis	CTD_human_DG	29394417		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anxiety	Anxiety disorder	Pubtator	27487491	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety disorder	Pubtator	27487491	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Gouty	Gouty arthritis	GWASCAT_DG	22179738		★☆☆☆☆ Found in Text Mining only
Autosomal dominant Charcot-Marie-Tooth disease type 2DD	Charcot-Marie-Tooth Disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	9807644		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	20460749, 26334094	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33868261	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	27431571		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	35618735	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	32631246	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	35110381	Associate	★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	31373411, 31705535, 31707753		★☆☆☆☆ Found in Text Mining only
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD	Charcot-Marie-Tooth Disease	ORPHANET_DG	29499166		★☆☆☆☆ Found in Text Mining only
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD	Charcot-Marie-Tooth Disease	GENOMICS_ENGLAND_DG	29499166, 30388404		★☆☆☆☆ Found in Text Mining only
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD	Charcot-Marie-Tooth Disease	UNIPROT_DG	29499166		★☆☆☆☆ Found in Text Mining only
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD	Charcot-Marie-Tooth Disease	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Conn Adenoma	Conn Adenoma	BEFREE	25424518, 26066391, 26580238, 26807823, 27729216, 27754862		★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	CTD_human_DG	23416519		★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	BEFREE	26125435, 30811176		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28484360, 30015972		★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing syndrome	Pubtator	26743443	Associate	★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	37558483	Associate	★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	36738336	Associate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	27487491	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic Nephropathy	BEFREE	11887161		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	11509477, 17446437		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	17446437	Associate	★☆☆☆☆ Found in Text Mining only
Essential Tremor	Essential tremor	Pubtator	17446437	Associate	★☆☆☆☆ Found in Text Mining only
Familial Hemiplegic Migraine	Hemiplegic Migraine	BEFREE	12119109		★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	CTD_human_DG	23416519, 23913004		★☆☆☆☆ Found in Text Mining only
Fuchs' Endothelial Dystrophy	Fuchs endothelial dystrophy	Pubtator	29698634	Inhibit	★☆☆☆☆ Found in Text Mining only
Gastroenteritis, Transmissible, of Swine	Gastroenteritis	CTD_human_DG	28438630		★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	22575386	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29653366		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29653366		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29582577, 30739221, 31114755		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37901992	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gout	Gout	GWASCAT_DG	22179738		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing Disorders	Headache	Pubtator	37558483	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	37558483	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	24427266	Associate	★☆☆☆☆ Found in Text Mining only
Hemiplegic migraine, familial type 1	Hemiplegic migraine	BEFREE	12119109		★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	31705535		★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Autonomic Neuropathy Type Ie	Hereditary sensory and autonomic neuropathy	Pubtator	35110381	Associate	★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	CTD_human_DG	23416519		★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	Pubtator	24082052, 24866132, 25776071, 25906099, 26066391, 26252618, 26351028, 26743443, 26807823, 27729216, 30085035, 30739536, 32516371, 33677921, 33796077, 34681640, 35257799, 40302475	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	17446437	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	11509477, 11564973, 17446437, 25615575		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	LHGDN	11926353, 16243970, 17446437		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CTD_human_DG	23416519		★☆☆☆☆ Found in Text Mining only
Hypomagnesemia 2, renal	Hypomagnesemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	30388404		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	30388404, 35110381, 36738336	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	36189312	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	37904054	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26334094, 29309535		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	30739221		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	28484360		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	27431571		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27701467, 28484360		★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine	Pubtator	35110381	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	CTD_human_DG	29702141		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	CTD_human_DG	16214533		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23946277, 26285814, 28484360, 29309535, 30015972		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	Pubtator	36871182	Associate	★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	36738336	Associate	★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Aldosterone-producing adenoma	Hyperaldosteronism	Orphanet			★☆☆☆☆ Found in Text Mining only
Papillary adenoma	Papillary Adenoma	CTD_human_DG	23416519, 23913004		★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	35110381, 36738336	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	35110381, 36738336, 37558483	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	27701467	Associate	★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	28484360		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28484360, 30015972		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	15515123		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	30388404, 35110381	Associate	★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	31006710		★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	31705535		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	30183476	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	31705535		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	27845894		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular neoplasm	Pubtator	30924599	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	32377223	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	17446437	Associate	★☆☆☆☆ Found in Text Mining only
Vesicular Stomatitis	Vesicular Stomatitis	BEFREE	25653449		★☆☆☆☆ Found in Text Mining only
Vestibular Diseases	Vestibular Diseases	CTD_human_DG	21269433		★☆☆☆☆ Found in Text Mining only