8ox4
From Proteopedia
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<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=8ox4 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=8ox4 OCA], [https://pdbe.org/8ox4 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=8ox4 RCSB], [https://www.ebi.ac.uk/pdbsum/8ox4 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=8ox4 ProSAT]</span></td></tr> | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=8ox4 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=8ox4 OCA], [https://pdbe.org/8ox4 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=8ox4 RCSB], [https://www.ebi.ac.uk/pdbsum/8ox4 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=8ox4 ProSAT]</span></td></tr> | ||
</table> | </table> | ||
| - | == Disease == | ||
| - | [https://www.uniprot.org/uniprot/AT8B1_HUMAN AT8B1_HUMAN] Progressive familial intrahepatic cholestasis type 1;Intrahepatic cholestasis of pregnancy;Benign recurrent intrahepatic cholestasis type 1. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. The disease may be caused by variants affecting the gene represented in this entry. | ||
| - | == Function == | ||
| - | [https://www.uniprot.org/uniprot/AT8B1_HUMAN AT8B1_HUMAN] Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of phospholipids, in particular phosphatidylcholines (PC), from the outer to the inner leaflet of the plasma membrane (PubMed:25315773, PubMed:17948906). May participate in the establishment of the canalicular membrane integrity by ensuring asymmetric distribution of phospholipids in the canicular membrane (By similarity). Thus may have a role in the regulation of bile acids transport into the canaliculus, uptake of bile acids from intestinal contents into intestinal mucosa or both and protect hepatocytes from bile salts (By similarity). Involved in the microvillus formation in polarized epithelial cells; the function seems to be independent from its flippase activity (PubMed:20512993). Participates in correct apical membrane localization of CDC42, CFTR and SLC10A2 (PubMed:25239307, PubMed:27301931). Enables CDC42 clustering at the apical membrane during enterocyte polarization through the interaction between CDC42 polybasic region and negatively charged membrane lipids provided by ATP8B1 (By similarity). Together with TMEM30A is involved in uptake of the synthetic drug alkylphospholipid perifosine (PubMed:20510206). Required for the preservation of cochlear hair cells in the inner ear (By similarity). May act as cardiolipin transporter during inflammatory injury (By similarity).[UniProtKB:Q148W0]<ref>PMID:17948906</ref> <ref>PMID:20510206</ref> <ref>PMID:20512993</ref> <ref>PMID:25239307</ref> <ref>PMID:27301931</ref> | ||
<div style="background-color:#fffaf0;"> | <div style="background-color:#fffaf0;"> | ||
== Publication Abstract from PubMed == | == Publication Abstract from PubMed == | ||
Current revision
Cryo-EM structure of ATP8B1-CDC50A in E1-ATP conformation
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