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ATP1A3 (ATPase Na+/K+ transporting subunit alpha 3)

Gene

ATPase Na+/K+ transporting subunit alpha 3

ATP1A3

AHC2, ATP1A1, CAPOS, DYT12, RDP

19

19q13.2

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 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

Show/Hide all(86)

SNP ID	Visualize variation	Clinical significance	Consequence
rs80356532	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs80356533	C>T	Pathogenic	Coding sequence variant, missense variant
rs80356535	A>C	Pathogenic	Coding sequence variant, missense variant
rs80356536	A>G	Pathogenic	Coding sequence variant, missense variant
rs80356537	C>A,G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs146600566	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs150943961	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs180749411	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs200891944	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs267606670	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs369853936	T>C	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, upstream transcript variant, intron variant
rs387907281	C>T	Pathogenic	Coding sequence variant, missense variant
rs387907282	A>G	Pathogenic	Coding sequence variant, missense variant
rs397515382	->TAG	Pathogenic	Inframe insertion, terminator codon variant
rs397515577	G>A	Pathogenic	Coding sequence variant, missense variant
rs397515578	CAG>-	Pathogenic	Inframe deletion, coding sequence variant
rs398122887	C>A,G,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs534926223	G>C,T	Pathogenic	Coding sequence variant, missense variant
rs536681257	A>C,T	Pathogenic	Coding sequence variant, missense variant
rs542652468	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs549006436	A>C,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs557052809	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs557939077	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs573535377	G>T	Pathogenic	Missense variant, coding sequence variant
rs587777771	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs606231427	T>A	Pathogenic	Coding sequence variant, missense variant
rs606231428	A>T	Pathogenic	Coding sequence variant, missense variant
rs606231430	C>A	Pathogenic	Coding sequence variant, missense variant
rs606231431	T>G	Pathogenic	Coding sequence variant, missense variant
rs606231432	C>A,G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs606231433	A>G	Pathogenic	Coding sequence variant, missense variant
rs606231434	C>G	Pathogenic	Coding sequence variant, missense variant
rs606231435	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs606231436	A>G	Pathogenic	Coding sequence variant, missense variant
rs606231437	T>A,C	Pathogenic	Coding sequence variant, missense variant
rs606231438	G>A	Pathogenic	Coding sequence variant, missense variant
rs606231439	G>C	Pathogenic	Coding sequence variant, missense variant
rs606231440	T>A,C	Pathogenic	Coding sequence variant, missense variant
rs606231441	C>T	Pathogenic	Splice donor variant
rs606231442	C>T	Pathogenic	Coding sequence variant, missense variant
rs606231443	GAC>-	Uncertain-significance, pathogenic	Coding sequence variant, inframe deletion
rs606231444	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs606231445	G>A,C	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs606231446	G>T	Pathogenic	Coding sequence variant, missense variant
rs606231447	C>A,G,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs606231448	A>G	Pathogenic	Coding sequence variant, missense variant
rs606231449	A>G	Pathogenic	Coding sequence variant, missense variant
rs781822752	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant
rs781928217	C>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs782082118	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs782175860	C>T	Pathogenic	Missense variant, coding sequence variant
rs782312004	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant
rs782717865	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs797044897	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs863224847	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs864309572	G>A	Pathogenic	Missense variant, coding sequence variant
rs869320661	C>T	Pathogenic	Missense variant, coding sequence variant
rs879255368	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs886041396	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs886041431	C>T	Pathogenic	Missense variant, coding sequence variant
rs1057516032	AGTCT>GA	Pathogenic	Coding sequence variant, inframe indel
rs1064795234	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1064795403	TTC>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1064797245	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs1085307933	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1085307992	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691307	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691813	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691940	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1135401821	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1135401822	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555859144	G>A	Pathogenic	Coding sequence variant, stop gained
rs1555859157	A>G	Pathogenic	Coding sequence variant, missense variant
rs1555859571	C>T	Pathogenic	Coding sequence variant, missense variant
rs1555859593	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555865385	GAG>-	Uncertain-significance, likely-pathogenic	Coding sequence variant, inframe deletion
rs1555865401	C>T	Pathogenic	Coding sequence variant, missense variant
rs1568853466	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1599705281	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1599706511	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1599706522	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1599712456	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1599712523	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1599719527	AGGTTC>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1599719534	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1599725621	C>G	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all(14)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029518	hsa-miR-26b-5p	Microarray	19088304
MIRT626502	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT626503	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT626504	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT626505	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT626506	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT626507	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT626508	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT626509	hsa-miR-4286	HITS-CLIP	23824327
MIRT626510	hsa-miR-181a-2-3p	HITS-CLIP	23824327
MIRT626511	hsa-miR-5003-5p	HITS-CLIP	23824327
MIRT626512	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT626513	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT626514	hsa-miR-8485	HITS-CLIP	23824327

Show/Hide all(49)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001540	Function	Amyloid-beta binding	IDA	26224839
GO:0001540	Function	Amyloid-beta binding	TAS	26871627
GO:0001917	Component	Photoreceptor inner segment	ISS
GO:0005391	Function	P-type sodium:potassium-exchanging ATPase activity	IBA	21873635
GO:0005391	Function	P-type sodium:potassium-exchanging ATPase activity	IDA	10636900
GO:0005391	Function	P-type sodium:potassium-exchanging ATPase activity	IMP	15260953
GO:0005391	Function	P-type sodium:potassium-exchanging ATPase activity	NAS	26224839
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005524	Function	ATP binding	NAS	15260953
GO:0005783	Component	Endoplasmic reticulum	IDA	15260953
GO:0005794	Component	Golgi apparatus	IDA	15260953
GO:0005886	Component	Plasma membrane	IDA	15260953
GO:0005886	Component	Plasma membrane	IGI	19751721
GO:0005886	Component	Plasma membrane	TAS
GO:0005890	Component	Sodium:potassium-exchanging ATPase complex	IC	15260953
GO:0005890	Component	Sodium:potassium-exchanging ATPase complex	IDA	10636900
GO:0005890	Component	Sodium:potassium-exchanging ATPase complex	NAS	26224839
GO:0006883	Process	Cellular sodium ion homeostasis	IBA	21873635
GO:0006883	Process	Cellular sodium ion homeostasis	IDA	10636900
GO:0010248	Process	Establishment or maintenance of transmembrane electrochemical gradient	IEA
GO:0016020	Component	Membrane	ISS
GO:0016021	Component	Integral component of membrane	NAS	15260953
GO:0030007	Process	Cellular potassium ion homeostasis	IBA	21873635
GO:0030007	Process	Cellular potassium ion homeostasis	IDA	10636900
GO:0030424	Component	Axon	IDA	26224839
GO:0031090	Component	Organelle membrane	IGI	19751721
GO:0032809	Component	Neuronal cell body membrane	IC	26224839
GO:0034220	Process	Ion transmembrane transport	TAS
GO:0036376	Process	Sodium ion export across plasma membrane	IBA	21873635
GO:0036376	Process	Sodium ion export across plasma membrane	IDA	10636900
GO:0043025	Component	Neuronal cell body	IDA	26224839
GO:0045202	Component	Synapse	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0051087	Function	Chaperone binding	IPI	10636900
GO:0060075	Process	Regulation of resting membrane potential	TAS	26224839
GO:0060342	Component	Photoreceptor inner segment membrane	ISS	26373354
GO:0071383	Process	Cellular response to steroid hormone stimulus	NAS	11546672
GO:0086064	Process	Cell communication by electrical coupling involved in cardiac conduction	TAS	19683723
GO:0098984	Component	Neuron to neuron synapse	ISS
GO:0099520	Function	Ion antiporter activity involved in regulation of presynaptic membrane potential	IMP	10636900
GO:1902600	Process	Proton transmembrane transport	IBA	21873635
GO:1903416	Process	Response to glycoside	NAS	11546672
GO:1903561	Component	Extracellular vesicle	HDA	24769233
GO:1903779	Process	Regulation of cardiac conduction	TAS
GO:1904646	Process	Cellular response to amyloid-beta	ISS
GO:1990239	Function	Steroid hormone binding	NAS	11546672
GO:1990535	Process	Neuron projection maintenance	IGI	26224839
GO:1990573	Process	Potassium ion import across plasma membrane	IBA	21873635
GO:1990573	Process	Potassium ion import across plasma membrane	IDA	10636900

MIM	HGNC	e!Ensembl
182350	801	ENSG00000105409

Protein

UniProt ID

Protein name

Sodium/potassium-transporting ATPase subunit alpha-3 (Na(+)/K(+) ATPase alpha-3 subunit) (EC 7.2.2.13) (Na(+)/K(+) ATPase alpha(III) subunit) (Sodium pump subunit alpha-3)

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 potassium ions, providing the energy for active transport of various nutrients.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00690	Cation_ATPase_N	33 → 101	Cation transporter/ATPase, N-terminus	Domain
PF00122	E1-E2_ATPase	153 → 344		Family
PF13246	Cation_ATPase	416 → 511		Family
PF00689	Cation_ATPase_C	789 → 998	Cation transporting ATPase, C-terminus	Family

Sequence

MGDKKDDKDSPKKNKGKERRDLDDLKKEVAMTEHKMSVEEVCRKYNTDCVQGLTHSKAQE
ILARDGPNALTPPPTTPEWVKFCRQLFGGFSILLWIGAILCFLAYGIQAGTEDDPSGDNL
YLGIVLAAVVIITGCFSYYQEAKSSKIMESFKNMVPQQALVIREGEKMQVNAEEVVVGDL
VEIKGGDRVPADLRIISAHGCKVDNSSLTGESEPQTRSPDCTHDNPLETRNITFFSTNCV
EGTARGVVVATGDRTVMGRIATLASGLEVGKTPIAIEIEHFIQLITGVAVFLGVSFFILS
LILGYTWLEAVIFLIGIIVANVPEGLLATVTVCLTLTAKRMARKNCLVKNLEAVETLGST
STICSDKTGTLTQNRMTVAHMWFDNQIHEADTTEDQSGTSFDKSSHTWVALSHIAGLCNR
AVFKGGQDNIPVLKRDVAGDASESALLKCIELSSGSVKLMRERNKKVAEIPFNSTNKYQL
SIHETEDPNDNRYLLVMKGAPERILDRCSTILLQGKEQPLDEEMKEAFQNAYLELGGLGE
RVLGFCHYYLPEEQFPKGFAFDCDDVNFTTDNLCFVGLMSMIDPPRAAVPDAVGKCRSAG
IKVIMVTGDHPITAKAIAKGVGIISEGNETVEDIAARLNIPVSQVNPRDAKACVIHGTDL
KDFTSEQIDEILQNHTEIVFARTSPQQKLIIVEGCQRQGAIVAVTGDGVNDSPALKKADI
GVAMGIAGSDVSKQAADMILLDDNFASIVTGVEEGRLIFDNLKKSIAYTLTSNIPEITPF
LLFIMANIPLPLGTITILCIDLGTDMVPAISLAYEAAESDIMKRQPRNPRTDKLVNERLI
SMAYGQIGMIQALGGFFSYFVILAENGFLPGNLVGIRLNWDDRTVNDLEDSYGQQWTYEQ
RKVVEFTCHTAFFVSIVVVQWADLIICKTRRNSVFQQGMKNKILIFGLFEETALAAFLSY
CPGMDVALRMYPLKPSWWFCAFPYSFLIFVYDEIRKLILRRNPGGWVEKETYY

Sequence length

1013

Interactions

View interactions

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