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MGP002250

UniProt Annotations

Entry Information
Gene NameATPase, aminophospholipid transporter, class I, type 8B, member 1
Protein EntryAT8B1_HUMAN
UniProt IDO43520
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityATP + H(2)O + phospholipid(Side 1) = ADP + phosphate + phospholipid(Side 2).
DiseaseCholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300]: A disorder characterized by intermittent episodes of cholestasis without progression to liver failure. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months. The cholestatic attacks vary in severity and duration. Patients are asymptomatic between episodes, both clinically and biochemically. {ECO:0000269|PubMed:15239083, ECO:0000269|PubMed:9500542, ECO:0000269|PubMed:9918928}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseCholestasis of pregnancy, intrahepatic 1 (ICP1) [MIM:147480]: A liver disorder of pregnancy. It presents during the second or, more commonly, the third trimester of pregnancy with intense pruritus which becomes more severe with advancing gestation and cholestasis. Cholestasis results from abnormal biliary transport from the liver into the small intestine. ICP1 causes fetal distress, spontaneous premature delivery and intrauterine death. ICP1 patients have spontaneous and progressive disappearance of cholestasis after delivery. {ECO:0000269|PubMed:15657619, ECO:0000269|PubMed:15888793}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
DiseaseCholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600]: A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. {ECO:0000269|PubMed:11093741, ECO:0000269|PubMed:15239083, ECO:0000269|PubMed:20038848, ECO:0000269|PubMed:23197899, ECO:0000269|PubMed:9500542}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCatalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. May play a role in asymmetric distribution of phospholipids in the canicular membrane. May have a role in transport of bile acids into the canaliculus, uptake of bile acids from intestinal contents into intestinal mucosa or both. In cooperation with ABCB4 may be involved in establishing integrity of the canalicular membrane thus protecting hepatocytes from bile salts. Together with TMEM30A is involved in uptake of the synthetic drug alkylphospholipid perifosine. Involved in the microvillus formation in polarized epithelial cells; the function seems to be independent from its flippase activity. Required for the preservation of cochlear hair cells in the inner ear. May act as cardiolipin transporter during inflammatory injury. {ECO:0000269|PubMed:17948906, ECO:0000269|PubMed:20510206, ECO:0000269|PubMed:20512993}.
InteractionQ9NV96:TMEM30A; NbExp=3; IntAct=EBI-9524729, EBI-2836942;
SimilarityBelongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily. {ECO:0000305}.
Subcellular LocationCell membrane; Multi-pass membrane protein. Apical cell membrane. Cell projection, stereocilium {ECO:0000250}. Endoplasmic reticulum. Golgi apparatus. Note=Exit from the endoplasmic reticulum requires the presence of TMEM30A or TMEM30B. Localizes to apical membranes in epithelial cells.
SubunitComponent of a P4-ATPase flippase complex which consists of a catalytic alpha subunit and an accessory beta subunit (Probable). The probable flippase ATP8B1:TMEM30A complex can form an intermediate phosphoenzyme in vitro. Also interacts with beta subunit TMEM30B. {ECO:0000269|PubMed:17948906, ECO:0000269|PubMed:20947505, ECO:0000269|PubMed:20961850, ECO:0000269|PubMed:21914794, ECO:0000305}.
Tissue SpecificityFound in most tissues except brain and skeletal muscle. Most abundant in pancreas and small intestine.
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