Literature summary for 7.2.2.13 extracted from

Rodacker, V.; Toustrup-Jensen, M.; Vilsen, B.
Mutations Phe785Leu and Thr618Met in Na+,K+-ATPase, associated with familial rapid-onset dystonia parkinsonism, interfere with Na+ interaction by distinct mechanisms (2006), J. Biol. Chem., 281, 18539-18548.

Search for more literature for 7.2.2.13

Application

Application	Comment	Organism
medicine	analysis of mutations F785L and T618M associated with familial rapid-onset dystonia parkinsonism	Homo sapiens

Crystallization (Commentary)

Crystallization (Comment)	Organism
strucutural modeling of enzyme. Residue F785 participates in a hydrophobic network between three transmembrane segments. Residue T618 is located in the cytoplasmic part of the molecule near the catalyitc site	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
F785L	mutation associated with familial rapid-onset dystonia parkinsonism, leads to functionally altered, but active, Na+K+-pumps with reduced apparent affinity for cytoplasmic Na+. Defect in the interaction of the E1 form of enzyme with Na+, and the E1-E2 equilibrium is not displaced. K+ interaction at the external activating sites of E2P phosphoenzyme is normal. The affinity for ouabain is significantly reduced	Homo sapiens
F785L/L786F	aromatic function of F785 is critical for Na+ and ouabain binding	Homo sapiens
F785Y	aromatic function of F785 is critical for Na+ and ouabain binding	Homo sapiens
T618M	mutation associated with familial rapid-onset dystonia parkinsonism, leads to functionally altered, but active, Na+K+-pumps with reduced apparent affinity for cytoplasmic Na+. The Na+-affinity is reduced because of displacement of the conformational equilibrium in favor of the K+-occluded E2 form. K+ interaction at the external activating sites of E2P phosphoenzyme is normal	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
membrane	-	Homo sapiens	16020	-

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	patients with familial rapid-onset dystonia parkinsonism	-

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Release 2023.1 (January 2023)