ABCA1-4-like, C-terminal R2 regulatory domain
IPR056264
Definition
This domain is found at the C-terminal of human Phospholipid-transporting ATPases ABCA1-4 and similar sequences predominantly found in animals, which are lipid transporters. ABCA1 catalyses the translocation of specific phospholipids from the cytoplasmic to the extracellular/lumenal leaflet of membrane coupled to the hydrolysis of ATP. ABCA2 modulates cholesterol sequestration in the late endosome/lysosome by regulating the intracellular sphingolipid metabolism, in turn participates in cholesterol homeostasis PMID:24201375. ABCD3 catalyses the ATP-dependent transport of phospholipids such as phosphatidylcholine and phosphoglycerol from the cytoplasm into the lumen side of lamellar bodies, in turn participates in the lamellar bodies biogenesis and homeostasis of pulmonary surfactant [[cite:PMID:28887056], [cite:PMID:31473345]]. ABCD4 is a flippase that catalyses in an ATP-dependent manner the transport of retinal-phosphatidylethanolamine conjugates from the lumen to the cytoplasmic leaflet of photoreceptor outer segment disk membranes and prevents the accumulation of excess of 11-cis-retinal and its schiff-base conjugate and the formation of toxic bisretinoid [[cite:PMID:29847635], [cite:PMID:33375396]]. This entry represents the regulatory domain R2 which shows a β-sheet and two α-helices on one side [[cite:PMID:28602350], [cite:PMID:36889459]].
11 human proteins with this domain
Each is a reviewed human protein in the Seroatlas serome and a potential autoantibody target; this domain groups them into one antibody-relevant category. Every entry links to its own record.
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