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Literature summary for 7.6.2.1 extracted from

  • van der Mark, V.A.; de Jonge, H.R.; Chang, J.C.; Ho-Mok, K.S.; Duijst, S.; Vidovic, D.; Carlon, M.S.; Oude Elferink, R.P.; Paulusma, C.C.
    The phospholipid flippase ATP8B1 mediates apical localization of the cystic fibrosis transmembrane regulator (2016), Biochim. Biophys. Acta, 1863, 2280-2288 .
    View publication on PubMed

Organism

Organism UniProt Comment Textmining
Homo sapiens O43520
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-

Source Tissue

Source Tissue Comment Organism Textmining
Caco-2 cell
-
Homo sapiens
-
Calu-3 cell
-
Homo sapiens
-
colonic carcinoma cell
-
Homo sapiens
-
intestinal epithelial cell
-
Homo sapiens
-
pulmonary epithelial cell
-
Homo sapiens
-
T-84 cell
-
Homo sapiens
-

Synonyms

Synonyms Comment Organism
ATP8B1
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Homo sapiens
phospholipid flippase
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Homo sapiens

General Information

General Information Comment Organism
malfunction mutations in the enzyme gene cause progressive familial intrahepatic cholestasis type 1 Homo sapiens
physiological function the enzyme is important for proper cystic fibrosis transmembrane conductance regulator CFTR expression and function. The enzyme is essential for correct apical localization of CFTR in human intestinal and pulmonary epithelial cells Homo sapiens