Atp8b1

Summary

Gene Symbol: Atp8b1
Description: ATPase, class I, type 8B, member 1
Alias: AI451886, FIC1, phospholipid-transporting ATPase IC, ATPase 8B1, p type, ATPase B1, class I, P4-ATPase flippase complex alpha subunit ATP8B1, aminophospholipid translocase, familial intrahepatic cholestasis type I
Species: mouse
Products:     Atp8b1

Top Publications

  1. Groen A, Kunne C, Paulusma C, Kramer W, Agellon L, Bull L, et al. Intestinal bile salt absorption in Atp8b1 deficient mice. J Hepatol. 2007;47:114-22 pubmed
    Mutations in the ATP8B1 gene can cause Progressive Familial Intrahepatic Cholestasis type 1...
  2. 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
    ..as well as biochemical and transfection studies that support its function as an energy-dependent aminophospholipid translocase. Immunocytochemistry of rat liver and immunoblotting of membrane fractions localized Fic1 to the ..
  3. Paulusma C, Groen A, Kunne C, Ho Mok K, Spijkerboer A, Rudi de Waart D, et al. Atp8b1 deficiency in mice reduces resistance of the canalicular membrane to hydrophobic bile salts and impairs bile salt transport. Hepatology. 2006;44:195-204 pubmed
    ..cholestasis type 1 (PFIC1, Byler disease, OMIM 211600) is a severe inherited liver disease caused by mutations in ATP8B1. ATP8B1 is a member of the type 4 subfamily of P-type ATPases, which are phospholipid flippases...
  4. Groen A, Kunne C, Jongsma G, van den Oever K, Mok K, Petruzzelli M, et al. Abcg5/8 independent biliary cholesterol excretion in Atp8b1-deficient mice. Gastroenterology. 2008;134:2091-100 pubmed publisher
    b>ATP8B1 is a phosphatidylserine flippase in the canalicular membrane; patients with mutations in ATP8B1 develop severe chronic (PFIC1) or periodic (BRIC1) cholestatic liver disease...
  5. Paulusma C, de Waart D, Kunne C, Mok K, Elferink R. Activity of the bile salt export pump (ABCB11) is critically dependent on canalicular membrane cholesterol content. J Biol Chem. 2009;284:9947-54 pubmed publisher
    Mutations in ATP8B1 cause severe inherited liver disease. The disease is characterized by impaired biliary bile salt excretion (cholestasis), but the mechanism whereby impaired ATP8B1 function results in cholestasis is poorly understood...
  6. Shah S, Sanford U, Vargas J, Xu H, Groen A, Paulusma C, et al. Strain background modifies phenotypes in the ATP8B1-deficient mouse. PLoS ONE. 2010;5:e8984 pubmed publisher
    Mutations in ATP8B1 (FIC1) underlie cases of cholestatic disease, ranging from chronic and progressive (progressive familial intrahepatic cholestasis) to intermittent (benign recurrent intrahepatic cholestasis)...
  7. 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...
  8. van Mil S, van Oort M, van den Berg I, Berger R, Houwen R, Klomp L. Fic1 is expressed at apical membranes of different epithelial cells in the digestive tract and is induced in the small intestine during postnatal development of mice. Pediatr Res. 2004;56:981-7 pubmed
    Mutations in ATP8B1 are associated with FIC1 disease, an autosomal recessive disorder in which intrahepatic cholestasis is the predominant manifestation...
  9. Halleck M, Lawler JF J, Blackshaw S, Gao L, Nagarajan P, Hacker C, et al. Differential expression of putative transbilayer amphipath transporters. Physiol Genomics. 1999;1:139-50 pubmed
    The aminophospholipid translocase transports phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another...

More Information

Publications17

  1. Bruurs L, Donker L, Zwakenberg S, Zwartkruis F, Begthel H, Knisely A, et al. ATP8B1-mediated spatial organization of Cdc42 signaling maintains singularity during enterocyte polarization. J Cell Biol. 2015;210:1055-63 pubmed publisher
    ..Here we show that the disease-associated flippase ATPase class I type 8b member 1 (ATP8B1) enables Cdc42 clustering during enterocyte polarization...
  2. van der Mark V, de Jonge H, Chang J, Ho Mok K, Duijst S, Vidović D, et al. The phospholipid flippase ATP8B1 mediates apical localization of the cystic fibrosis transmembrane regulator. Biochim Biophys Acta. 2016;1863:2280-8 pubmed publisher
    ..intrahepatic cholestasis type 1 (PFIC1) is caused by mutations in the gene encoding the phospholipid flippase ATP8B1. Apart from severe cholestatic liver disease, many PFIC1 patients develop extrahepatic symptoms characteristic of ..
  3. Allen R, Marquart T, Albert C, Suchy F, Wang D, Ananthanarayanan M, et al. miR-33 controls the expression of biliary transporters, and mediates statin- and diet-induced hepatotoxicity. EMBO Mol Med. 2012;4:882-95 pubmed publisher
    ..We show that two of these transporters, ABCB11 and ATP8B1, are functional targets of miR-33, a micro-RNA that is expressed from within an intron of SREBP-2...
  4. Groen A, Romero M, Kunne C, Hoosdally S, Dixon P, Wooding C, et al. Complementary functions of the flippase ATP8B1 and the floppase ABCB4 in maintaining canalicular membrane integrity. Gastroenterology. 2011;141:1927-37.e1-4 pubmed publisher
    Progressive familial intrahepatic cholestasis can be caused by mutations in ABCB4 or ATP8B1; each encodes a protein that translocates phospholipids, but in opposite directions...
  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...
  6. 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 ..
  7. 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)...
  8. Kunne C, de Graaff M, Duijst S, de Waart D, Oude Elferink R, Paulusma C. Hepatic cytochrome P450 deficiency in mouse models for intrahepatic cholestasis predispose to bile salt-induced cholestasis. Lab Invest. 2014;94:1103-13 pubmed publisher
    ..Double transgenes were obtained by backcrossing Atp8b1(G308V/G308V) and Abcb4(-/-) mice with Hrn mice that have a liver-specific disruption of the cytochrome P450 ..