Cloned (Comment) | Organism |
---|---|
expression of wild-type and mutant ATP7B ATP binding loops in ccc2-deficient Saccharomyces cerevisiae strain | Homo sapiens |
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 | Comment | Organism | Structure |
---|---|---|---|
Mg2+ | - |
Saccharomyces cerevisiae | |
Mg2+ | - |
Homo sapiens |
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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P35670 | gene ATP7B | - |
Saccharomyces cerevisiae | - |
gene CCC2 | - |
Saccharomyces cerevisiae BJ2168 | - |
gene CCC2 | - |
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 | 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 | Comment | Organism |
---|---|---|
ATP7B | - |
Homo sapiens |
Ccc2 | - |
Saccharomyces cerevisiae |
copper transporter | - |
Saccharomyces cerevisiae |
copper transporter | - |
Homo sapiens |
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 |