InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ATP1A3

Summary

InnateDB Protein

IDBP-53556.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ATP1A3

Protein Name

ATPase, Na+/K+ transporting, alpha 3 polypeptide

Synonyms

AHC2; DYT12; RDP;

Species

Homo sapiens

Ensembl Protein

ENSP00000302397

InnateDB Gene

IDBG-53554 (ATP1A3)

Protein Structure

UniProt Annotation

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.

Subcellular Localization

Cell membrane {ECO:0000269PubMed:7711835}; Multi-pass membrane protein {ECO:0000269PubMed:7711835}.

Disease Associations

Dystonia 12 (DYT12) [MIM:128235]: An autosomal dominant dystonia-parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT12 patients develop dystonia and parkinsonism between 15 and 45 years of age. The disease is characterized by an unusually rapid evolution of signs and symptoms. The sudden onset of symptoms over hours to a few weeks, often associated with physical or emotional stress, suggests a trigger initiating a nervous system insult resulting in permanent neurologic disability. {ECO:0000269PubMed:15260953, ECO:0000269PubMed:19351654, ECO:0000269PubMed:19652145}. Note=The disease is caused by mutations affecting the gene represented in this entry.Alternating hemiplegia of childhood 2 (AHC2) [MIM:614820]: A rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment. It is typically distinguished from familial hemiplegic migraine by infantile onset and high prevalence of associated neurological deficits that become increasingly obvious with age. {ECO:0000269PubMed:22842232, ECO:0000269PubMed:22850527, ECO:0000269PubMed:23409136}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=ATP1A3 mutations are a cause of cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss syndrome (CAPOS) (PubMed:24468074). Patients present with a relapsing and partially remitting, early-onset cerebellar ataxia following a febrile illness. Other features include progressive optic atrophy and sensorineural hearing loss, generalized hypotonia, areflexia and pes cavus without evidence of a peripheral neuropathy on neurophysiological studies. {ECO:0000269PubMed:24468074}.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	6 [view]
Protein-Protein	6 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000166	nucleotide binding
GO:0005391	sodium:potassium-exchanging ATPase activity
GO:0005524	ATP binding
GO:0015077	monovalent inorganic cation transmembrane transporter activity
GO:0016820	hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances
GO:0019829	cation-transporting ATPase activity
GO:0046872	metal ion binding

Biological Process

GO:0006754	ATP biosynthetic process
GO:0006812	cation transport
GO:0015672	monovalent inorganic cation transport
GO:0034220	ion transmembrane transport
GO:0035725	sodium ion transmembrane transport
GO:0055085	transmembrane transport

Cellular Component

GO:0005783	endoplasmic reticulum
GO:0005794	Golgi apparatus
GO:0005886	plasma membrane
GO:0005890	sodium:potassium-exchanging ATPase complex
GO:0016021	integral component of membrane
GO:0045202	synapse

Protein Structure and Domains

PDB ID

InterPro

IPR001757 Cation-transporting P-type ATPase
IPR004014 Cation-transporting P-type ATPase, N-terminal
IPR005775 Sodium/potassium-transporting P-type ATPase, subfamily IIC
IPR006068 Cation-transporting P-type ATPase, C-terminal
IPR008250 P-type ATPase, A domain
IPR023214 HAD-like domain
IPR023299 P-type ATPase, cytoplasmic domain N

PFAM

PF00690
PF00689
PF00122
PF00702
PF08282
PF13419

PRINTS

PR00119
PR00120

PIRSF

SMART

SM00831

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt