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Literature summary for 7.2.2.9 extracted from

  • Hsi, G.; Cullen, L.M.; Macintyre, G.; Chen, M.M.; Glerum, D.M.; Cox, D.W.
    Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system (2008), Hum. Mutat., 29, 491-501.
    View publication on PubMed
Search for more literature for 7.2.2.9

Cloned(Commentary)

Cloned (Comment) Organism
mutant variants of ATP7B expressed in protease-deficient Saccharomyces cerevisiae strain BJ2168 and in ccc2 and fet3 mutant strains lacking functional CCC2 and FET3 genes Homo sapiens

Protein Variants

Protein Variants Comment Organism
E1064K located in the ATP-binding domain, marked impairment in copper transport function, identified as disease-causing mutation Homo sapiens
L1083F partial complementation at 30°C, severe deficit at 37°C observed, marked impairment in copper transport function found, identified as disease-causing mutation Homo sapiens
M1169V partial complementation at 30°C and 37°C observed, partial reduction in ATP7B function´´, identified as disease-causing mutation Homo sapiens
V1106D located in the ATP-binding domain, marked impairment in copper transport function, identified as disease-causing mutation Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
ATP + H2O + Cu2+/in Homo sapiens
-
 ADP + phosphate + Cu2+/out
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens P35670
-
-

Specific Activity [micromol/min/mg]

Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
additional information
-
 11 missense variants of ATP7B identified in Wilson disease patients analyzed by capacity of functional complementation of a yeast mutant strain disrupted by the ATP7B gene ortholog CCC2, solution structures and homology of ATP7B domains used to predict effects of each variant Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
ATP + H2O + Cu2+/in
-
 Homo sapiens ADP + phosphate + Cu2+/out
-
 ?
ATP + H2O + Cu2+/in functional assessment of ATP7B variants analyzed, four variant amino acid positions identified as important for copper transport and as disease-causing changes Homo sapiens ADP + phosphate + Cu2+/out
-
 ?

Synonyms

Synonyms Comment Organism
ATP7B
-
 Homo sapiens
Wilson disease protein
-
 Homo sapiens