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ATP8B1 - ATPase, aminophospholipid transporter, class I, type 8B, member 1
Entrez Gene Name: ATPase, aminophospholipid transporter, class I, type 8B, member 1
Entrez GeneID: Human(5205)
, Mouse(54670), Rat(291555)
, Mouse(54670), Rat(291555) Synonyms: AI451886, ATP8B1, ATPIC, BRIC, FIC1, Ic, PFIC, PFIC1
Gene Summary
- Human (5205): 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. [provided by RefSeq, Jul 2008]
Molecular Functions | Biological Process | Cellular Components | Protein Domains | Subcellular Locations | Pathways | Literature References | IPA Extras
Cell Regulation
Regulated by:
| Binds:
| Disease:
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Biological Process
ATP biosynthetic process, ATP catabolic process, bile acid and bile salt transport, bile acid metabolic process, cation transport, ion transmembrane transport, metabolic process, negative regulation of transcription, DNA-dependent, phospholipid translocation, phospholipid transport, transmembrane transport
Cellular Components
apical plasma membrane, brush border membrane, endoplasmic reticulum, integral to membrane, integral to plasma membrane, membrane, membrane fraction, plasma membrane
Literature References
- 19133130Davit-Spraul A, Gonzales E, Baussan C, Jacquemin E. Progressive familial intrahepatic cholestasis.Orphanet J Rare Dis 2009 Jan 01;4:1
- 14976163Pawlikowska L, Groen A, Eppens EF, Kunne C, Ottenhoff R, Looije N, Knisely AS, Killeen NP, Bull LN, Elferink RP, Freimer NB. 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 Apr 15;13(8):881-92
- 12663868Trauner M, Boyer JL. Bile salt transporters: molecular characterization, function, and regulation.Physiol Rev 2003 Apr 01;83(2):633-71
Molecular Functions
ATP binding, ATPase activity, ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism, hydrolase activity, hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances, magnesium ion binding, metal ion binding, nucleotide binding, phospholipid-translocating ATPase activity, protein binding
Protein Domains
E1-E2 ATPase, Mg2+-ATPase, phospholipid-translocating P-type ATPase, flippase, transporter
Subcellular Locations
apical membrane, brush border, cellular membrane, membrane fraction, Plasma Membrane