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Literature summary for 7.2.2.9 extracted from

  • Luoma, L.M.; Deeb, T.M.; Macintyre, G.; Cox, D.W.
    Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B (2010), Hum. Mutat., 31, 569-577.
    View publication on PubMed
Search for more literature for 7.2.2.9

Cloned(Commentary)

Cloned (Comment) Organism
expression of wild-type and mutant ATP7B ATP binding loops in ccc2-deficient Saccharomyces cerevisiae strain Homo sapiens

Protein Variants

Protein Variants Comment Organism
D1267V naturally occuring mutation in the ATP-binding loop of ATP7B, deleterious mutation, unable to grow under iron limitation Homo sapiens
E1173G naturally occuring mutation in the ATP-binding loop of ATP7B, temperature-sensitive mutant, unable to complement the enzyme-deficient yeast mutant at 37°C, but complement the enzyme-deficient yeast mutant at 30°C Homo sapiens
G1000R naturally occuring mutation in the ATP-binding loop of ATP7B, deleterious mutation, unable to grow under iron limitation Homo sapiens
G1101R naturally occuring mutation in the ATP-binding loop of ATP7B, deleterious mutation, unable to grow under iron limitation Homo sapiens
G1176E naturally occuring mutation in the ATP-binding loop of ATP7B, intermediate mutant, unable to grow at 37°C without addition of copper or iron Homo sapiens
G1287S naturally occuring mutation in the ATP-binding loop of ATP7B, intermediate mutant, unable to grow under iron limitation Homo sapiens
I1102T naturally occuring mutation in the ATP-binding loop of ATP7B, deleterious mutation, unable to grow under iron limitation Homo sapiens
I1148T naturally occuring mutation in the ATP-binding loop of ATP7B, mild mutation, unable to grow under iron limitation Homo sapiens
L1043P naturally occuring mutation in the ATP-binding loop of ATP7B, deleterious mutation, unable to grow under iron limitation Homo sapiens
additional information functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B Homo sapiens
additional information yeast deficient in Ccc2 function cannot survive when iron is limiting, functional complementation by expression of wild-type human ATP7B Saccharomyces cerevisiae
R1228T naturally occuring mutation in the ATP-binding loop of ATP7B, the mutant behaves similar to the wild-type enzyme, complements the enzyme-deficient yeast mutant Homo sapiens
T991M naturally occuring mutation in the ATP-binding loop of ATP7B, mild mutation Homo sapiens
V1239G naturally occuring mutation in the ATP-binding loop of ATP7B, deleterious mutation, unable to grow under iron limitation Homo sapiens

Metals/Ions

Metals/Ions Comment Organism Structure
Mg2+
-
 Saccharomyces cerevisiae
Mg2+
-
 Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
ATP + H2O + Cu2+/in Saccharomyces cerevisiae
-
 ADP + phosphate + Cu2+/out
-
 ?
ATP + H2O + Cu2+/in Homo sapiens transport of copper by ATP7B from the trans-Golgi of hepatocytes into apical membrane-trafficked vesicles for excretion in the bile is the major means of copper elimination from the body ADP + phosphate + Cu2+/out
-
 ?
ATP + H2O + Cu2+/in Saccharomyces cerevisiae BJ2168
-
 ADP + phosphate + Cu2+/out
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens P35670 gene ATP7B
-
Saccharomyces cerevisiae
-
 gene CCC2
-
Saccharomyces cerevisiae BJ2168
-
 gene CCC2
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
ATP + H2O + Cu2+/in
-
 Saccharomyces cerevisiae ADP + phosphate + Cu2+/out
-
 ?
ATP + H2O + Cu2+/in
-
 Homo sapiens ADP + phosphate + Cu2+/out
-
 ?
ATP + H2O + Cu2+/in transport of copper by ATP7B from the trans-Golgi of hepatocytes into apical membrane-trafficked vesicles for excretion in the bile is the major means of copper elimination from the body Homo sapiens ADP + phosphate + Cu2+/out
-
 ?
ATP + H2O + Cu2+/in
-
 Saccharomyces cerevisiae BJ2168 ADP + phosphate + Cu2+/out
-
 ?

Subunits

Subunits Comment Organism
More solution structure of the ATPbinding loop of ATP7B, and predictive model of the transduction domain, ATP loop, and associated transmembrane domains, overview Homo sapiens

Synonyms

Synonyms Comment Organism
ATP7B
-
 Homo sapiens
Ccc2
-
 Saccharomyces cerevisiae
copper transporter
-
 Saccharomyces cerevisiae
copper transporter
-
 Homo sapiens

General Information

General Information Comment Organism
additional information mutations in ATP7B cause the Wilson disase, an autosomal recessive disorder Homo sapiens
physiological function transport of copper by ATP7B from the trans-Golgi of hepatocytes into apical membrane-trafficked vesicles for excretion in the bile is the major means of copper elimination from the body Homo sapiens