Gene table of ATP1A3 : ATPase Na+/K+ transporting subunit alpha 3

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ATP1A3	OMIM link	Number of associated genes	genes
PS104290	ALTERNATING HEMIPLEGIA OF CHILDHOOD	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	ATP1A2, ATP1A3
PS128100	DYSTONIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	18	DRD2, GNAL, ANO3, SLC2A1, KCTD17, HPCA, THAP1, GCH1, PRRT2, ATP1A3, PNKD, PRKRA, COL6A3, TOR1A, CACNA1B, SGCE, TAF1, TUBB4A
601338	CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	ATP1A3

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Annotation of the gene ATP1A3

Associated genes in ENSEMBL

ENSG00000105409

Associated proteins - SwissProt Accession ID

P13637

Associated PDB IDs

Cytogenetic Band

19q13.2

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Salivary secretion	hsa04970	6.23
Gastric acid secretion	hsa04971	6.48
Endocrine and other factor-regulated calcium reabsorption	hsa04961	7.12
Aldosterone-regulated sodium reabsorption	hsa04960	7.41
Protein digestion and absorption	hsa04974	6.2
Bile secretion	hsa04976	6.56
Carbohydrate digestion and absorption	hsa04973	7.28
cGMP-PKG signaling pathway	hsa04022	5.32
Proximal tubule bicarbonate reclamation	hsa04964	8.24
Pancreatic secretion	hsa04972	6.07
cAMP signaling pathway	hsa04024	5.05
Mineral absorption	hsa04978	7.09
Insulin secretion	hsa04911	6.18
Thyroid hormone synthesis	hsa04918	6.56
Thyroid hormone signaling pathway	hsa04919	5.82
Cardiac muscle contraction	hsa04260	6.34
Adrenergic signaling in cardiomyocytes	hsa04261	5.44

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Ion channel transport	R-HSA-983712	5.34
Ion transport by P-type ATPases	R-HSA-936837	7.46
Transmembrane transport of small molecules	R-HSA-382551	3.79

Associated GO terms for Molecular function

GO term	GO ID	GO IC
purine ribonucleoside triphosphate binding	GO:0035639	2.22
D1 dopamine receptor binding	GO:0031748	7.66
sulfur compound binding	GO:1901681	4.32
dopamine receptor binding	GO:0050780	6.85
binding	GO:0005488	0.18
ATPase activity	GO:0016887	3.65
G-protein coupled receptor binding	GO:0001664	4.18
ion binding	GO:0043167	1.36
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
glycoprotein binding	GO:0001948	5.11
ATPase coupled ion transmembrane transporter activity	GO:0042625	5.46
ATPase activity, coupled to transmembrane movement of substances	GO:0042626	5.06
hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances	GO:0016820	5.03
sodium ion transmembrane transporter activity	GO:0015081	4.83
ATPase activity, coupled	GO:0042623	3.97
chaperone binding	GO:0051087	5.34
monovalent inorganic cation transmembrane transporter activity	GO:0015077	3.87
nucleotide binding	GO:0000166	1.96
sodium:potassium-exchanging ATPase activity	GO:0005391	7.44
primary active transmembrane transporter activity	GO:0015399	4.98
purine nucleoside binding	GO:0001883	2.22
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
metal ion transmembrane transporter activity	GO:0046873	3.71
metal ion binding	GO:0046872	1.41
ATP binding	GO:0005524	2.43
hydrolase activity	GO:0016787	1.9
protein binding	GO:0005515	0.46
cation binding	GO:0043169	1.4
transporter activity	GO:0005215	2.57
cation transmembrane transporter activity	GO:0008324	3.32
nucleoside-triphosphatase activity	GO:0017111	3.09
lipid binding	GO:0008289	3.26
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
heparan sulfate proteoglycan binding	GO:0043395	6.85
proteoglycan binding	GO:0043394	6.34
potassium ion transmembrane transporter activity	GO:0015079	4.77
steroid binding	GO:0005496	5.24
steroid hormone binding	GO:1990239	7.95
hormone binding	GO:0042562	5.53
potassium-transporting ATPase activity	GO:0008556	7.34
substrate-specific transmembrane transporter activity	GO:0022891	2.9
inorganic cation transmembrane transporter activity	GO:0022890	3.49
receptor binding	GO:0005102	2.43
substrate-specific transporter activity	GO:0022892	2.72
	GO:0086037	9.74
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
ATPase activity, coupled to movement of substances	GO:0043492	4.93
hydrolase activity, acting on acid anhydrides	GO:0016817	3.03
cation-transporting ATPase activity	GO:0019829	5.64
ion transmembrane transporter activity	GO:0015075	3.04
pyrophosphatase activity	GO:0016462	3.04
transmembrane transporter activity	GO:0022857	2.82
purine ribonucleoside binding	GO:0032550	2.22
adenyl ribonucleotide binding	GO:0032559	2.41
active transmembrane transporter activity	GO:0022804	3.85
active ion transmembrane transporter activity	GO:0022853	5.06
purine ribonucleotide binding	GO:0032555	2.2
ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	GO:0015662	6.24
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	3.03
P-P-bond-hydrolysis-driven transmembrane transporter activity	GO:0015405	4.98
ribonucleotide binding	GO:0032553	2.19