ATP8B1

ATPase, Class I, type 8B, member 1
Identifiers
Symbols	ATP8B1 ; ATPIC; BRIC; FIC1; PFIC; PFIC1
External IDs	Template:OMIM5 Template:MGI HomoloGene: 21151
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

ATPase, Class I, type 8B, member 1, also known as ATP8B1, is a human gene. This protein is associated with progressive familial intrahepatic cholestasis type 1.

This gene encodes a member of the P-type cation transport ATPase family, which belongs to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Mutations in this gene may result in progressive familial intrahepatic cholestasis type 1 and in benign recurrent intrahepatic cholestasis.

Further reading

• Knisely AS (2000). "Progressive familial intrahepatic cholestasis: a personal perspective". Pediatr. Dev. Pathol. 3 (2): 113–25. PMID 10679031.
• Harris MJ, Le Couteur DG, Arias IM (2006). "Progressive familial intrahepatic cholestasis: genetic disorders of biliary transporters". J. Gastroenterol. Hepatol. 20 (6): 807–17. doi:10.1111/j.1440-1746.2005.03743.x. PMID 15946126.CS1 maint: Multiple names: authors list (link)
• Clayton RJ, Iber FL, Ruebner BH, McKusick VA (1969). "Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred". Am. J. Dis. Child. 117 (1): 112–24. PMID 5762004.CS1 maint: Multiple names: authors list (link)
• Carlton VE, Knisely AS, Freimer NB (1995). "Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region". Hum. Mol. Genet. 4 (6): 1049–53. PMID 7655458.CS1 maint: Multiple names: authors list (link)
• Houwen RH, Baharloo S, Blankenship K; et al. (1995). "Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis". Nat. Genet. 8 (4): 380–6. doi:10.1038/ng1294-380. PMID 7894490.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bull LN, van Eijk MJ, Pawlikowska L; et al. (1998). "A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis". Nat. Genet. 18 (3): 219–24. doi:10.1038/ng0398-219. PMID 9500542.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Halleck MS, Pradhan D, Blackman C; et al. (1998). "Multiple members of a third subfamily of P-type ATPases identified by genomic sequences and ESTs". Genome Res. 8 (4): 354–61. PMID 9548971.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Tygstrup N, Steig BA, Juijn JA; et al. (1999). "Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity". Hepatology. 29 (2): 506–8. doi:10.1002/hep.510290214. PMID 9918928.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Halleck MS, Lawler JF JR, Blackshaw S; et al. (2001). "Differential expression of putative transbilayer amphipath transporters". Physiol. Genomics. 1 (3): 139–50. PMID 11015572.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Klomp LW, Bull LN, Knisely AS; et al. (2001). "A missense mutation in FIC1 is associated with greenland familial cholestasis". Hepatology. 32 (6): 1337–41. doi:10.1053/jhep.2000.20520. PMID 11093741.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Eppens EF, van Mil SW, de Vree JM; et al. (2002). "FIC1, the protein affected in two forms of hereditary cholestasis, is localized in the cholangiocyte and the canalicular membrane of the hepatocyte". J. Hepatol. 35 (4): 436–43. PMID 11682026.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Harris MJ, Arias IM (2003). "FIC1, a P-type ATPase linked to cholestatic liver disease, has homologues (ATP8B2 and ATP8B3) expressed throughout the body". Biochim. Biophys. Acta. 1633 (2): 127–31. PMID 12880872.
• Chen F, Ananthanarayanan M, Emre S; et al. (2004). "Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activity". Gastroenterology. 126 (3): 756–64. PMID 14988830.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Klomp LW, Vargas JC, van Mil SW; et al. (2004). "Characterization of mutations in ATP8B1 associated with hereditary cholestasis". Hepatology. 40 (1): 27–38. doi:10.1002/hep.20285. PMID 15239083.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Demeilliers C, Jacquemin E, Barbu V; et al. (2006). "Altered hepatobiliary gene expressions in PFIC1: ATP8B1 gene defect is associated with CFTR downregulation". Hepatology. 43 (5): 1125–34. doi:10.1002/hep.21160. PMID 16628629.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)

External links

• ATP8B1+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)