Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	ATP1A1
Approved Name	ATPase, Na+/K+ transporting, alpha 1 polypeptide
Name Alias	sodium/potassium-transporting ATPase subunit alpha-1, "sodium pump subunit alpha-1", "sodium-potassium ATPase catalytic subunit alpha-1"
Location	1p13
Position	chr1:116372668-116410261, 1
External Links	HGNC: 799 Entrez Gene: 476 Ensembl: ENSG00000163399 UCSC: uc010oww.3
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Goldstein, I.,2009	SNP: rs1016732, rs11805078, rs2854248	In summary, this study demonstrates for the first time that genetic variations in tagging SNPs in the three genes of isoforms of Na<sup>+</sup , K<sup>+</sup> -ATPase are associated with BD and suggest the role of this enzyme in the etiology of BD.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 55)

GO terms by PBA (count: 5)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0019904	protein domain specific binding	molecular function	IEA	24
GO:0030955	potassium ion binding	molecular function	ISS	1
GO:0016021	integral component of membrane	cellular component	ISS	219
GO:0016020	membrane	cellular component	TAS[1975705]	137
GO:0005886	plasma membrane	cellular component	IDA[16791210]; TAS	360

GO terms by database search (count: 50)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016311	dephosphorylation	biological process	IEA	14
GO:0030315	T-tubule	cellular component	IEA	8
GO:0086064	cell communication by electrical coupling involved in cardiac conduction	biological process	TAS[19683723]	7
GO:0031402	sodium ion binding	molecular function	ISS	1
GO:0070062	extracellular vesicular exosome	cellular component	IDA[12519789]	176
GO:0010107	potassium ion import	biological process	IDA[10636900]	5
GO:0002026	regulation of the force of heart contraction	biological process	IEA	5
GO:0019901	protein kinase binding	molecular function	IEA	29
GO:0005515	protein binding	molecular function	IPI[11027149]	563
GO:0045823	positive regulation of heart contraction	biological process	IEA	1
GO:0036376	sodium ion export from cell	biological process	IDA[10636900]	4
GO:0042470	melanosome	cellular component	IEA	15
GO:0005783	endoplasmic reticulum	cellular component	ISS	49
GO:0051087	chaperone binding	molecular function	IPI[10636900]	10
GO:0055085	transmembrane transport	biological process	TAS	77
GO:0045989	positive regulation of striated muscle contraction	biological process	IEA	1
GO:0030007	cellular potassium ion homeostasis	biological process	IDA[10636900]	4
GO:0031982	vesicle	cellular component	IDA[24769233]	20
GO:0016323	basolateral plasma membrane	cellular component	IEA	21
GO:0016791	phosphatase activity	molecular function	IEA	2
GO:0045822	negative regulation of heart contraction	biological process	IEA	4
GO:0005901	caveola	cellular component	IEA	11
GO:0060048	cardiac muscle contraction	biological process	TAS[23224879]	5
GO:0016324	apical plasma membrane	cellular component	IEA	24
GO:0005391	sodium:potassium-exchanging ATPase activity	molecular function	IDA[10636900]; ISS	4
GO:0071383	cellular response to steroid hormone stimulus	biological process	IDA[11546672]	6
GO:0006883	cellular sodium ion homeostasis	biological process	IDA[10636900]	5
GO:0031947	negative regulation of glucocorticoid biosynthetic process	biological process	IEA	1
GO:0008217	regulation of blood pressure	biological process	IEA	12
GO:0071260	cellular response to mechanical stimulus	biological process	IEA	12
GO:0043548	phosphatidylinositol 3-kinase binding	molecular function	IEA	4
GO:0034220	ion transmembrane transport	biological process	TAS	50
GO:0005768	endosome	cellular component	IEA	27
GO:0042383	sarcolemma	cellular component	ISS	12
GO:0055119	relaxation of cardiac muscle	biological process	TAS[23224879]	4
GO:1990573	potassium ion import across plasma membrane	biological process	ISS	1
GO:0042493	response to drug	biological process	IEA	57
GO:1903416	response to glycoside	biological process	IDA[11546672]	3
GO:0005890	sodium:potassium-exchanging ATPase complex	cellular component	IDA[10636900]	4
GO:0002028	regulation of sodium ion transport	biological process	ISS	9
GO:0086009	membrane repolarization	biological process	IDA[19542013]	2
GO:0043234	protein complex	cellular component	IDA[22797923]	27
GO:0086004	regulation of cardiac muscle cell contraction	biological process	IEA	5
GO:0086013	membrane repolarization during cardiac muscle cell action potential	biological process	IC[19542013]	2
GO:0030506	ankyrin binding	molecular function	IEA	3
GO:1990239	steroid hormone binding	molecular function	IDA[14742675]	4
GO:0005794	Golgi apparatus	cellular component	ISS	60
GO:0005524	ATP binding	molecular function	ISS	118
GO:0060081	membrane hyperpolarization	biological process	IEA	5
GO:0043531	ADP binding	molecular function	IEA	4

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 10)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
ATP1A1	ADD1	NO	in vitro	10516168
ATP1A1	MAPK3	NO	in vitro	15069082
ATP1A1	FXYD2	NO	in vivo	11832419
ATP1A1	EZH2	YES	yeast 2-hybrid	16169070
ATP1A1	TPT1	NO	in vitro;in vivo;yeast 2-hybrid	15383549 , 16730713
ATP1A1	FXYD1	NO	in vivo	14597563
ATP1A1	NDRG1	NO	in vivo	17220478
ATP1A1	FXYD7	NO	in vitro	12093728
ATP1A1	EGFR	YES	in vivo	16799092
ATP1A1	CFL1	NO	in vitro;in vivo;yeast 2-hybrid	11139403

Related other genetic factors

Gene related SNPs (count: 3)

Literature-origin SNPs (count: 3)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs11805078	chr1:116381693 - 116381693(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)
rs1016732	chr1:160117178 - 160117178(1)	intron_variant; non_coding_transcript_variant	1(1/0/0)
rs2854248	chr1:160124137 - 160124137(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)

LD-proxies (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
1p13.2-1q21.3	chr1:111200000-155100000	1 (1/0/0)
1p32.1-q31.1	chr1:58500000-190800000	1 (0/1/0)
Chr 1	chr1:0-248956422	2 (0/2/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

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Region: chr1:116372668..116410261 View in gBrowse