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Literature summary for 7.6.2.1 extracted from

  • Folmer, D.E.; Elferink, R.P.; Paulusma, C.C.
    P4 ATPases - Lipid flippases and their role in disease (2009), Biochim. Biophys. Acta, 1791, 628-635.
    View publication on PubMed

Application

Application Comment Organism
medicine ATP8B1 deficiency leads to reduced PS flipping and impaired farnesoid X receptor signaling via impaired PKCgamma-mediated nuclear translocation of farnesoid X receptor, resulting in reduced bile salt export pump and enhanced apical sodium-dependent bile salt transporter activation Mus musculus

Cloned(Commentary)

Cloned (Comment) Organism
expressed in UPS-1 cells Mus musculus

Protein Variants

Protein Variants Comment Organism
G308V Atp8b1 protein is virtually undetectable in G308V mouse liver, the G308V substitution results in an instable protein that cannot exit the endoplasmic reticulum and is broken down by the proteasome Mus musculus

Localization

Localization Comment Organism GeneOntology No. Textmining
endoplasmic reticulum
-
Mus musculus 5783
-
plasma membrane
-
Mus musculus 5886
-

Organism

Organism UniProt Comment Textmining
Mus musculus Q148W0
-
-

Source Tissue

Source Tissue Comment Organism Textmining
brain low distribution in brain Mus musculus
-
epithelial cell
-
Mus musculus
-
liver
-
Mus musculus
-
pancreas high distribution in pancreas Mus musculus
-
small intestine high distribution in small intestine Mus musculus
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
ATP + H2O + phosphatidylserine/out
-
Mus musculus ADP + phosphate + phosphatidylserine/in
-
?

Synonyms

Synonyms Comment Organism
ATP8B1
-
Mus musculus