ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ATP1A3provided by HGNC
Official Full Name: ATPase Na+/K+ transporting subunit alpha 3provided by HGNC
Primary source: HGNC:HGNC:801
See related: Ensembl:ENSG00000105409 MIM:182350; AllianceGenome:HGNC:801
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RDP; AHC2; CAPOS; DEE99; DYT12; ATP1A1
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 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
Expression: Biased expression in brain (RPKM 145.6), heart (RPKM 51.8) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.2

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (41966582..41994230, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (44785945..44813592, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (42470734..42498382, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Neuronal autosis is Na[+]/K[+]-ATPase alpha 3-dependent and involved in hypoxic-ischemic neuronal death.
Title: Neuronal autosis is Na(+)/K(+)-ATPase alpha 3-dependent and involved in hypoxic-ischemic neuronal death.
Childhood-related neural genotype-phenotype in ATP1A3 mutations: comprehensive analysis.
Title: Childhood-related neural genotype-phenotype in ATP1A3 mutations: comprehensive analysis.
Expanding the Allelic spectrum in ATP1A3-related disorders with 3 novel mutations and clinic features.
Title: Expanding the Allelic spectrum in ATP1A3-related disorders with 3 novel mutations and clinic features.
ATP1A3 as a target for isolating neuron-specific extracellular vesicles from human brain and biofluids.
Title: ATP1A3 as a target for isolating neuron-specific extracellular vesicles from human brain and biofluids.
Germline mosaicism for a disease-causing mutation in the ATP1A3 gene in a Chinese family.
Title: Germline mosaicism for a disease-causing mutation in the ATP1A3 gene in a Chinese family.
Temperature instability of a mutation at a multidomain junction in Na,K-ATPase isoform ATP1A3 (p.Arg756His) produces a fever-induced neurological syndrome.
Title: Temperature instability of a mutation at a multidomain junction in Na,K-ATPase isoform ATP1A3 (p.Arg756His) produces a fever-induced neurological syndrome.
ATP1A3-related phenotypes in Chinese children: AHC, CAPOS, and RECA.
Title: ATP1A3-related phenotypes in Chinese children: AHC, CAPOS, and RECA.
The Phenotypic Continuum of ATP1A3-Related Disorders.
Title: The Phenotypic Continuum of ATP1A3-Related Disorders.
Vanishing basal ganglia in ATP1A3-related polymicrogyria.
Title: Vanishing basal ganglia in ATP1A3-related polymicrogyria.
Different phenotypes of neurological diseases, including alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism, caused by de novo ATP1A3 mutation in a family.
Title: Different phenotypes of neurological diseases, including alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism, caused by de novo ATP1A3 mutation in a family.

Submit: New GeneRIF Correction See all GeneRIFs (88)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Alternating hemiplegia of childhood 2 MedGen: C3553788 OMIM: 614820 GeneReviews: ATP1A3-Related Neurologic Disorders	Compare labs
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome MedGen: C1832466 OMIM: 601338 GeneReviews: ATP1A3-Related Neurologic Disorders	Compare labs
Developmental and epileptic encephalopathy 99 MedGen: C5562018 OMIM: 619606 GeneReviews: Not available	Compare labs
Dystonia 12 MedGen: C1868681 OMIM: 128235 GeneReviews: ATP1A3-Related Neurologic Disorders, Hereditary Dystonia Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D19S587 (e-PCR), detects polymorphism
- UniSTS:66309

GDB:196994 (e-PCR)
- UniSTS:155910

RH78939 (e-PCR)
- UniSTS:80699

UniSTS:480319 (e-PCR)
- UniSTS:480319

Atp1a3 (e-PCR), detects polymorphism
- UniSTS:480319

D19S198 (e-PCR), detects polymorphism
- UniSTS:147027

D19S900 (e-PCR), detects polymorphism
- UniSTS:32651

D19S265E (e-PCR)
- UniSTS:472974

ATP1A3_2763 (e-PCR)
- UniSTS:462046

hsatpn22 (e-PCR)
- UniSTS:29942

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	NAS Non-traceable Author Statement more info	PubMed
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables P-type sodium:potassium-exchanging transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables P-type sodium:potassium-exchanging transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables P-type sodium:potassium-exchanging transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables P-type sodium:potassium-exchanging transporter activity	NAS Non-traceable Author Statement more info	PubMed
enables amyloid-beta binding	IDA Inferred from Direct Assay more info	PubMed
enables amyloid-beta binding	TAS Traceable Author Statement more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-folding chaperone binding	IPI Inferred from Physical Interaction more info	PubMed
enables steroid hormone binding	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in cell communication by electrical coupling involved in cardiac conduction	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to amyloid-beta	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to steroid hormone stimulus	NAS Non-traceable Author Statement more info	PubMed
involved_in establishment or maintenance of transmembrane electrochemical gradient	IEA Inferred from Electronic Annotation more info
involved_in intracellular potassium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular potassium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular sodium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular sodium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in neuron projection maintenance	IGI Inferred from Genetic Interaction more info	PubMed
involved_in potassium ion import across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion import across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in proton transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of resting membrane potential	TAS Traceable Author Statement more info	PubMed
involved_in response to glycoside	NAS Non-traceable Author Statement more info	PubMed
involved_in sodium ion export across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in sodium ion export across plasma membrane	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in axon	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular vesicle	HDA more info	PubMed
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
located_in neuron to neuron synapse	ISS Inferred from Sequence or Structural Similarity more info
located_in neuronal cell body	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body membrane	IC Inferred by Curator more info	PubMed
located_in organelle membrane	IGI Inferred from Genetic Interaction more info	PubMed
located_in photoreceptor inner segment	ISS Inferred from Sequence or Structural Similarity more info
located_in photoreceptor inner segment membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IGI Inferred from Genetic Interaction more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
part_of sodium:potassium-exchanging ATPase complex	IC Inferred by Curator more info	PubMed
part_of sodium:potassium-exchanging ATPase complex	IDA Inferred from Direct Assay more info	PubMed
part_of sodium:potassium-exchanging ATPase complex	NAS Non-traceable Author Statement more info	PubMed
located_in synapse	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: sodium/potassium-transporting ATPase subunit alpha-3

Names: ATPase, Na+/K+ transporting, alpha 3 polypeptide; Na(+)/K(+) ATPase alpha(III) subunit; Na(+)/K(+) ATPase alpha-3 subunit; Na+, K+ activated adenosine triphosphatase alpha subunit; Na+/K+ ATPase 3; sodium pump subunit alpha-3; sodium-potassium ATPase catalytic subunit alpha-3; sodium-potassium-ATPase, alpha 3 polypeptide; sodium/potassium-transporting ATPase alpha-3 chain

NP_001243142.1

EC 7.2.2.13

NP_001243143.1

EC 7.2.2.13

NP_689509.1

EC 7.2.2.13

XP_047294818.1

EC 7.2.2.13

XP_054177046.1

EC 7.2.2.13

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008015.1 RefSeqGene

Range

5001..32649

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1186

mRNA and Protein(s)

NM_001256213.2 → NP_001243142.1 sodium/potassium-transporting ATPase subunit alpha-3 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) has an alternate 5' exon, compared to variant 1. The resulting isoform (2) has a different and longer N-terminus, compared to isoform 1.

Source sequence(s)

AK223569, AK295078, AK296557, BC009282

Consensus CDS

CCDS58663.1

UniProtKB/TrEMBL

B7Z9V4

Related

ENSP00000437577.1, ENST00000543770.5

Conserved Domains (1) summary

TIGR01106
Location:28 → 1024

ATPase-IIC_X-K; sodium or proton efflux -- potassium uptake antiporter, P-type ATPase, alpha subunit
NM_001256214.2 → NP_001243143.1 sodium/potassium-transporting ATPase subunit alpha-3 isoform 3

See identical proteins and their annotated locations for NP_001243143.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) has an additional in-frame segment in the 5' coding region, compared to variant 1. The resulting isoform (3) is longer than isoform 1.

Source sequence(s)

AK223569, AK295078, BC009282

Consensus CDS

CCDS58664.1

UniProtKB/TrEMBL

B7Z9V4

Related

ENSP00000444688.1, ENST00000545399.6

Conserved Domains (1) summary

TIGR01106
Location:30 → 1026

ATPase-IIC_X-K; sodium or proton efflux -- potassium uptake antiporter, P-type ATPase, alpha subunit
NM_152296.5 → NP_689509.1 sodium/potassium-transporting ATPase subunit alpha-3 isoform 1

See identical proteins and their annotated locations for NP_689509.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) is the predominant transcript and encodes isoform (1).

Source sequence(s)

AK223569, AK295078, BC009282, DB482528

Consensus CDS

CCDS12594.1

UniProtKB/Swiss-Prot

B7Z2T0, B7Z401, F5H6J6, P13637, Q16732, Q16735, Q969K5

UniProtKB/TrEMBL

Q53ES0

Related

ENSP00000498113.1, ENST00000648268.1

Conserved Domains (1) summary

TIGR01106
Location:17 → 1013

ATPase-IIC_X-K; sodium or proton efflux -- potassium uptake antiporter, P-type ATPase, alpha subunit