Gene Symbol: Atp8b1
Description: ATPase phospholipid transporting 8B1
Alias: phospholipid-transporting ATPase IC, ATPase, Class I, type 8B, member 1, ATPase, aminophospholipid transporter, class I, type 8B, member 1
Species: rat

Top Publications

  1. Haas M, Shah G, Onstead Haas L, Mooradian A. Identification of ATP8B1 as a blood-brain barrier-enriched protein. Cell Mol Neurobiol. 2014;34:473-8 pubmed publisher
    ..expressed transcripts showed that it is highly homologous with the ATPase class I, type 8B, and member 1 (ATP8B1) protein and contains an ATPase domain and a phospholipid-binding domain...
  2. Bull L, van Eijk M, Pawlikowska L, DeYoung J, Juijn J, Liao M, et al. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nat Genet. 1998;18:219-24 pubmed
    ..Its protein product is likely to play an essential role in enterohepatic circulation of bile acids; further characterization of FIC1 will facilitate understanding of normal bile formation and cholestasis. ..
  3. Verhulst P, van der Velden L, Oorschot V, van Faassen E, Klumperman J, Houwen R, et al. A flippase-independent function of ATP8B1, the protein affected in familial intrahepatic cholestasis type 1, is required for apical protein expression and microvillus formation in polarized epithelial cells. Hepatology. 2010;51:2049-60 pubmed publisher
    Mutations in ATP8B1 cause familial intrahepatic cholestasis type 1, a spectrum of disorders characterized by intrahepatic cholestasis, reduced growth, deafness, and diarrhea...
  4. van der Velden L, Wichers C, van Breevoort A, Coleman J, Molday R, Berger R, et al. Heteromeric interactions required for abundance and subcellular localization of human CDC50 proteins and class 1 P4-ATPases. J Biol Chem. 2010;285:40088-96 pubmed publisher
    ..Mutations in the human class 1 P(4)-ATPase gene ATP8B1 cause a severe syndrome characterized by impaired bile flow (intrahepatic cholestasis), often leading to end-stage ..
  5. Eppens E, van Mil S, de Vree J, Mok K, Juijn J, Oude Elferink R, et al. FIC1, the protein affected in two forms of hereditary cholestasis, is localized in the cholangiocyte and the canalicular membrane of the hepatocyte. J Hepatol. 2001;35:436-43 pubmed
    ..The localization of FIC1 in the canalicular membrane and cholangiocytes suggests that it may directly or indirectly play a role in bile formation since mutations in FICI are associated with severe symptoms of cholestasis. ..
  6. Pawlikowska L, Groen A, Eppens E, Kunne C, Ottenhoff R, Looije N, et al. A mouse genetic model for familial cholestasis caused by ATP8B1 mutations reveals perturbed bile salt homeostasis but no impairment in bile secretion. Hum Mol Genet. 2004;13:881-92 pubmed
    Mutations in ATP8B1, a broadly expressed P-type ATPase, result, through unknown mechanisms, in disorders of bile secretion. These disorders vary in severity from mild and episodic to progressive with liver failure...
  7. Cai S, Gautam S, Nguyen T, Soroka C, Rahner C, Boyer J. ATP8B1 deficiency disrupts the bile canalicular membrane bilayer structure in hepatocytes, but FXR expression and activity are maintained. Gastroenterology. 2009;136:1060-9 pubmed publisher
    Progressive familial intrahepatic cholestasis 1 (PFIC1) results from mutations in ATP8B1, a putative aminophospholipid flippase. Conflicting hypotheses have been proposed for the pathogenesis of PFIC1...
  8. Stapelbroek J, Peters T, van Beurden D, Curfs J, Joosten A, Beynon A, et al. ATP8B1 is essential for maintaining normal hearing. Proc Natl Acad Sci U S A. 2009;106:9709-14 pubmed publisher
    b>ATP8B1 deficiency is caused by autosomal recessive mutations in ATP8B1, which encodes the putative phospatidylserine flippase ATP8B1 (formerly called FIC1)...
  9. Folmer D, van der Mark V, Ho Mok K, Oude Elferink R, Paulusma C. Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1. Hepatology. 2009;50:1597-605 pubmed publisher
    Mutations in ATP8B1 cause progressive familial intrahepatic cholestasis type 1 (PFIC1) and benign recurrent intrahepatic cholestasis type 1 (BRIC1), forming a spectrum of cholestatic disease...

More Information


  1. Muñoz Martínez F, Torres C, Castanys S, Gamarro F. CDC50A plays a key role in the uptake of the anticancer drug perifosine in human carcinoma cells. Biochem Pharmacol. 2010;80:793-800 pubmed publisher
    ..However, when CDC50A was co-expressed with the P4-ATPase Atp8b1, the two proteins co-localized at the plasma membrane and the uptake of aminophospholipids and perifosine ..
  2. Ansari I, Longacre M, Paulusma C, Stoker S, Kendrick M, MacDonald M. Characterization of P4 ATPase Phospholipid Translocases (Flippases) in Human and Rat Pancreatic Beta Cells: THEIR GENE SILENCING INHIBITS INSULIN SECRETION. J Biol Chem. 2015;290:23110-23 pubmed publisher
    ..We found that the predominant P4 ATPases in pure pancreatic beta cells and human and rat pancreatic islets were ATP8B1, ATP8B2, and ATP9A. ATP8B1 and CDC50A were highly concentrated in ISG. ATP9A was concentrated in plasma membrane...
  3. Ujhazy P, Ortiz D, Misra S, Li S, Moseley J, Jones H, et al. Familial intrahepatic cholestasis 1: studies of localization and function. Hepatology. 2001;34:768-75 pubmed
    ..How this process produces cholestasis is under study. ..
  4. Demeilliers C, Jacquemin E, Barbu V, Mergey M, Paye F, Fouassier L, et al. Altered hepatobiliary gene expressions in PFIC1: ATP8B1 gene defect is associated with CFTR downregulation. Hepatology. 2006;43:1125-34 pubmed
    Recent reports in patients with PFIC1 have indicated that a gene defect in ATP8B1 could cause deregulations in bile salt transporters through decreased expression and/or activity of FXR...
  5. Ray N, Durairaj L, Chen B, McVerry B, Ryan A, Donahoe M, et al. Dynamic regulation of cardiolipin by the lipid pump Atp8b1 determines the severity of lung injury in experimental pneumonia. Nat Med. 2010;16:1120-1127 pubmed publisher
    ..and characterized the activity of a unique cardiolipin transporter, the P-type ATPase transmembrane lipid pump Atp8b1, a mutant version of which is associated with severe pneumonia in humans and mice...