Cloned (Comment) | Organism |
---|---|
expressed in SV40-transformed Menkes-null fibroblasts | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
C1375S | the mutant exhibits trafficking behavior similar to that observed for the wild type enzyme | Homo sapiens |
L1373P | the mutant exhibits abnormal trafficking behavior, the half-life of the mutant protein is significantly shorter than that of the wild type enzyme | Homo sapiens |
L1373R | the mutant exhibits abnormal trafficking behavior, the half-life of the mutant protein is significantly shorter than that of the wild type enzyme | Homo sapiens |
P1379 | the mutant exhibits trafficking behavior similar to that observed for the wild type enzyme | Homo sapiens |
T1434M | the mutant exhibits trafficking behavior similar to that observed for the wild type enzyme | Homo sapiens |
X1466R | the mutant exhibits trafficking behavior similar to that observed for the wild type enzyme | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
Golgi apparatus | the enzyme exhibits a tight Golgi pattern in low copper | Homo sapiens | 5794 | - |
vesicle | the enzyme redistributes from Golgi apparatus into vesicles in high copper conditions | Homo sapiens | 31982 | - |
Molecular Weight [Da] | Molecular Weight Maximum [Da] | Comment | Organism |
---|---|---|---|
195000 | - |
x * 195000, GST-tagged enzyme, SDS-PAGE | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P35670 | - |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
liver | - |
Homo sapiens | - |
Subunits | Comment | Organism |
---|---|---|
? | x * 195000, GST-tagged enzyme, SDS-PAGE | Homo sapiens |
Synonyms | Comment | Organism |
---|---|---|
ATP7B | - |
Homo sapiens |
copper-transporting P-type ATPase | - |
Homo sapiens |
Cu-ATPase | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | mutations in the gene encoding ATP7B cause copper toxicity (Wilson disease) by altering enzyme trafficking and stability | Homo sapiens |