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PMID:15260953

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Citation

de Carvalho Aguiar, P, Sweadner, KJ, Penniston, JT, Zaremba, J, Liu, L, Caton, M, Linazasoro, G, Borg, M, Tijssen, MA, Bressman, SB, Dobyns, WB, Brashear, A and Ozelius, LJ (2004) Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. Neuron 43:169-75

Abstract

Rapid-onset dystonia-parkinsonism (RDP, DYT12) is a distinctive autosomal-dominant movement disorder with variable expressivity and reduced penetrance characterized by abrupt onset of dystonia, usually accompanied by signs of parkinsonism. 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. We report the finding of six missense mutations in the gene for the Na+/K+ -ATPase alpha3 subunit (ATP1A3) in seven unrelated families with RDP. Functional studies and structural analysis of the protein suggest that these mutations impair enzyme activity or stability. This finding implicates the Na+/K+ pump, a crucial protein responsible for the electrochemical gradient across the cell membrane, in dystonia and parkinsonism.

Links

PubMed Online version:10.1016/j.neuron.2004.06.028

Keywords

Amino Acid Sequence; Cell Line; Dystonia/complications; Dystonia/genetics; Dystonia/metabolism; Humans; Molecular Conformation; Mutation, Missense; Parkinsonian Disorders/complications; Parkinsonian Disorders/genetics; Parkinsonian Disorders/metabolism; Sodium-Potassium-Exchanging ATPase/genetics; Sodium-Potassium-Exchanging ATPase/metabolism; Structure-Activity Relationship

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:AT1A3

located_in

GO:0005886: plasma membrane

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

HUMAN:AT1A3

located_in

GO:0016021: integral component of membrane

ECO:0000303: author statement without traceable support used in manual assertion

C

Seeded From UniProt

complete

HUMAN:AT1A3

located_in

GO:0005783: endoplasmic reticulum

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

HUMAN:AT1A3

located_in

GO:0005794: Golgi apparatus

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

HUMAN:AT1A3

enables

GO:0005391: P-type sodium:potassium-exchanging transporter activity

ECO:0000315: mutant phenotype evidence used in manual assertion

F

Seeded From UniProt

complete

HUMAN:AT1A3

enables

GO:0005391: sodium:potassium-exchanging ATPase activity

ECO:0000315: mutant phenotype evidence used in manual assertion

F

Seeded From UniProt

complete

HUMAN:AT1A3

part_of

GO:0005794: Golgi apparatus

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

HUMAN:AT1A3

part_of

GO:0005783: endoplasmic reticulum

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

HUMAN:AT1A3

enables

GO:0005524: ATP binding

ECO:0000303: author statement without traceable support used in manual assertion

F

Seeded From UniProt

complete

HUMAN:AT1A3

part_of

GO:0005886: plasma membrane

ECO:0000314: direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

HUMAN:AT1A3

part_of

GO:0005890: sodium:potassium-exchanging ATPase complex

ECO:0000305: curator inference used in manual assertion

GO:0005391

C

Seeded From UniProt

complete

HUMAN:AT1A3

part_of

GO:0016021: integral component of membrane

ECO:0000303: author statement without traceable support used in manual assertion

C

Seeded From UniProt

complete


See also

References

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