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Literature summary for 7.2.2.9 extracted from

  • Braiterman, L.; Nyasae, L.; Leves, F.; Hubbard, A.L.
    Critical roles for the COOH terminus of the Cu-ATPase ATP7B in protein stability, trans-Golgi network retention, copper sensing, and retrograde trafficking (2011), Am. J. Physiol. Gastrointest. Liver Physiol., 301, G69-G81.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 7.2.2.9

Cloned(Commentary)

Cloned (Comment) Organism
expressed in SV40-transformed Menkes-null fibroblasts Homo sapiens

Protein Variants

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

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 [Da] Molecular Weight Maximum [Da] Comment Organism
195000
-
 x * 195000, GST-tagged enzyme, SDS-PAGE Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens P35670
-
-

Source Tissue

Source Tissue Comment Organism Textmining
liver
-
 Homo sapiens
-

Subunits

Subunits Comment Organism
? x * 195000, GST-tagged enzyme, SDS-PAGE Homo sapiens

Synonyms

Synonyms Comment Organism
ATP7B
-
 Homo sapiens
copper-transporting P-type ATPase
-
 Homo sapiens
Cu-ATPase
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction mutations in the gene encoding ATP7B cause copper toxicity (Wilson disease) by altering enzyme trafficking and stability Homo sapiens