The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)



Gene Review

ATP8B1  -  ATPase, aminophospholipid transporter,...

Homo sapiens

Synonyms: ATPIC, ATPase class I type 8B member 1, BRIC, FIC1, Familial intrahepatic cholestasis type 1, ...
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of ATP8B1

  • Reduced hepatic expression of farnesoid X receptor in hereditary cholestasis associated to mutation in ATP8B1 [1].
  • Given that mutations in FIC1 result in liver disease, these proteins may have important roles in other organs in which they are candidates for genetic and acquired diseases [2].
  • ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy [3].
  • Although PFIC and BRIC are clinically distinct diseases, episodic attacks of jaundice and pruritus, with elevated concentrations of bile acid in serum, are seen in both disorders [4].
  • The BTB/POZ-ZF [Broad complex, Tramtrack, Bric ?? brac (BTB) or poxvirus and zinc finger (POZ)-zinc finger] protein family comprises a diverse group of transcription factors [5].

High impact information on ATP8B1


Chemical compound and disease context of ATP8B1

  • The pool sizes of cholic acid and chenodeoxycholic acid, expressed in micromoles per kilogram body weight, were significantly contracted in BRIC patients during a cholestasis-free period: 8.0 +/- 4.2 and 11.7 +/- 4.7, respectively, versus 24.1 +/- 11.7 and 22.9 +/- 7.8 in controls [8].
  • Two monoclonal antibodies (MoAbs), BRIC 66 (IgM) and BRIC 111 (IgG1), were produced by immunizing mice with ovarian cyst blood group A1 glycoprotein and Tn red cells (RBCs), respectively [9].
  • Lower values for gamma-glutamyl transpeptidase, averaging 15 IU/L before the administration of phenobarbital, and cholesterol, which averaged 156 mg/dl, are helpful in distinguishing PFIC from other pediatric cholestatic liver diseases [10].
  • The pattern of serial serum bile acid and bilirubin concentrations in 3 patients with benign recurrent intrahepatic cholestasis (BRIC) was compared with those from patients with other liver diseases [11].

Biological context of ATP8B1

  • The children were demonstrated to be compound heterozygotes for missense and nonsense mutations in ATP8B1 [1].
  • This study aimed to: (1) define ATP8B1 expression in human hepatobiliary cell types, and (2) determine whether ATP8B1 defect affects gene expressions related to bile secretion in these cells [12].
  • A defect of ATP8B1 along with CFTR downregulation can impair the contribution of these cells to bile secretion, and potentially explain the extrahepatic cystic fibrosis-like manifestations that occur in PFIC1 [12].
  • A mouse genetic model for familial cholestasis caused by ATP8B1 mutations reveals perturbed bile salt homeostasis but no impairment in bile secretion [13].
  • Eight ICP cases, including two women carrying a mutation, were investigated using in vivo hepatic (31)P magnetic resonance spectroscopy (MRS) RESULTS: Two heterozygous ATP8B1 transitions (208G>A and 2599C>T) that resulted in amino acid substitutions were identified; 208G>A was identified in three cases [3].

Anatomical context of ATP8B1


Associations of ATP8B1 with chemical compounds


Other interactions of ATP8B1


Analytical, diagnostic and therapeutic context of ATP8B1


  1. Reduced hepatic expression of farnesoid X receptor in hereditary cholestasis associated to mutation in ATP8B1. Alvarez, L., Jara, P., Sánchez-Sabaté, E., Hierro, L., Larrauri, J., Díaz, M.C., Camarena, C., De la Vega, A., Frauca, E., López-Collazo, E., Lapunzina, P. Hum. Mol. Genet. (2004) [Pubmed]
  2. FIC1, a P-type ATPase linked to cholestatic liver disease, has homologues (ATP8B2 and ATP8B3) expressed throughout the body. Harris, M.J., Arias, I.M. Biochim. Biophys. Acta (2003) [Pubmed]
  3. ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy. Müllenbach, R., Bennett, A., Tetlow, N., Patel, N., Hamilton, G., Cheng, F., Chambers, J., Howard, R., Taylor-Robinson, S.D., Williamson, C. Gut (2005) [Pubmed]
  4. Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region. Carlton, V.E., Knisely, A.S., Freimer, N.B. Hum. Mol. Genet. (1995) [Pubmed]
  5. POZ for effect--POZ-ZF transcription factors in cancer and development. Kelly, K.F., Daniel, J.M. Trends Cell Biol. (2006) [Pubmed]
  6. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Bull, L.N., van Eijk, M.J., Pawlikowska, L., DeYoung, J.A., Juijn, J.A., Liao, M., Klomp, L.W., Lomri, N., Berger, R., Scharschmidt, B.F., Knisely, A.S., Houwen, R.H., Freimer, N.B. Nat. Genet. (1998) [Pubmed]
  7. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Strautnieks, S.S., Bull, L.N., Knisely, A.S., Kocoshis, S.A., Dahl, N., Arnell, H., Sokal, E., Dahan, K., Childs, S., Ling, V., Tanner, M.S., Kagalwalla, A.F., Németh, A., Pawlowska, J., Baker, A., Mieli-Vergani, G., Freimer, N.B., Gardiner, R.M., Thompson, R.J. Nat. Genet. (1998) [Pubmed]
  8. Benign recurrent intrahepatic cholestasis: altered bile acid metabolism. Bijleveld, C.M., Vonk, R.J., Kuipers, F., Havinga, R., Boverhof, R., Koopman, B.J., Wolthers, B.G., Fernandes, J. Gastroenterology (1989) [Pubmed]
  9. Immunochemical studies on the differential binding properties of two monoclonal antibodies reacting with Tn red cells. King, M.J., Parsons, S.F., Wu, A.M., Jones, N. Transfusion (1991) [Pubmed]
  10. Clinical and biochemical findings in progressive familial intrahepatic cholestasis. Whitington, P.F., Freese, D.K., Alonso, E.M., Schwarzenberg, S.J., Sharp, H.L. J. Pediatr. Gastroenterol. Nutr. (1994) [Pubmed]
  11. A distinctive pattern of serum bile acid and bilirubin concentrations in benign recurrent intrahepatic cholestasis. Summerfield, J.A., Kirk, A.P., Chitranukroh, A., Billing, B.H. Hepatogastroenterology (1981) [Pubmed]
  12. Altered hepatobiliary gene expressions in PFIC1: ATP8B1 gene defect is associated with CFTR downregulation. Demeilliers, C., Jacquemin, E., Barbu, V., Mergey, M., Paye, F., Fouassier, L., Chignard, N., Housset, C., Lomri, N.E. Hepatology (2006) [Pubmed]
  13. A mouse genetic model for familial cholestasis caused by ATP8B1 mutations reveals perturbed bile salt homeostasis but no impairment in bile secretion. Pawlikowska, L., Groen, A., Eppens, E.F., Kunne, C., Ottenhoff, R., Looije, N., Knisely, A.S., Killeen, N.P., Bull, L.N., Elferink, R.P., Freimer, N.B. Hum. Mol. Genet. (2004) [Pubmed]
  14. A new ABCB11 mutation in two Italian children with familial intrahepatic cholestasis. Nobili, V., Di Giandomenico, S., Francalanci, P., Callea, F., Marcellini, M., Santorelli, F.M. J. Gastroenterol. (2006) [Pubmed]
  15. Biliary diversion for progressive familial intrahepatic cholestasis: improved liver morphology and bile acid profile. Kurbegov, A.C., Setchell, K.D., Haas, J.E., Mierau, G.W., Narkewicz, M., Bancroft, J.D., Karrer, F., Sokol, R.J. Gastroenterology (2003) [Pubmed]
  16. Abnormal hepatic sinusoidal bile acid transport in an Amish kindred is not linked to FIC1 and is improved by ursodiol. Morton, D.H., Salen, G., Batta, A.K., Shefer, S., Tint, G.S., Belchis, D., Shneider, B., Puffenberger, E., Bull, L., Knisely, A.S. Gastroenterology (2000) [Pubmed]
  17. Ursodeoxycholic acid therapy in pediatric patients with progressive familial intrahepatic cholestasis. Jacquemin, E., Hermans, D., Myara, A., Habes, D., Debray, D., Hadchouel, M., Sokal, E.M., Bernard, O. Hepatology (1997) [Pubmed]
  18. Bile salt excretory pump: biology and pathobiology. Suchy, F.J., Ananthanarayanan, M. J. Pediatr. Gastroenterol. Nutr. (2006) [Pubmed]
  19. Function and pathophysiological importance of ABCB4 (MDR3 P-glycoprotein). Oude Elferink, R.P., Paulusma, C.C. Pflugers Arch. (2007) [Pubmed]
  20. Cholestasis Familiaris Groenlandica/Byler-like disease in Greenland--a population study. Eiberg, H., Nørgaard-Pedersen, B., Nielsen, I.M. International journal of circumpolar health. (2004) [Pubmed]
  21. Progressive familial intrahepatic cholestasis: a personal perspective. Knisely, A.S. Pediatr. Dev. Pathol. (2000) [Pubmed]
  22. Benign recurrent intrahepatic cholestasis. Evidence for an intrinsic abnormality in hepatocyte secretion. Minuk, G.Y., Shaffer, E.A. Gastroenterology (1987) [Pubmed]
WikiGenes - Universities