phospholipid-transporting ATPase 1C; ATPase class 1 type 8B member 1; familial intrahepatic cholestasis type 1 protien (ATP8B1, ATPIC, FIC1, PFIC)

Function

• may play a role in the transport of aminophospholipids from the outer to the inner leaflet of various membranes & the maintenance of asymmetric distribution of phospholipids in the biliary canicular membrane
• may have a role in transport of bile acids into the biliary canaliculus, uptake of bile acids from intestinal contents into intestinal mucosa, or both

ATP + H2O + phospholipid(In) = ADP + phosphate + phospholipid(out)

Structure

• belongs to the cation transport ATPase (P-type) (TC 3.A.3) family, type IV subfamily

Compartment

membrane

Expression

• expressed in most tissues
• most abundant in pancreas & small intestine
• not expressed in brain, skeletal muscle

Pathology

• defects in ATP8B1 are the cause of:
  • familial intrahepatic cholestasis type 1
  • benign recurrent intrahepatic cholestasis type 1
• defects in ATP8B1 can be associated with intrahepatic cholestasis of pregnancy

More general terms

• phospholipid-transporting ATPase
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=5205
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:5205
• OMIM: https://mirror.omim.org/entry/147480
• OMIM: https://mirror.omim.org/entry/211600
• OMIM: https://mirror.omim.org/entry/243300
• OMIM: https://mirror.omim.org/entry/602397
• UniProt: http://www.uniprot.org/uniprot/O43520.html