Protein Domain : Bridge-like lipid transfer protein family member 1 IPR033616

Type	Family
Description	Bridge-like lipid transfer protein family member 1 (BLTP1, formerly known as Tweek/KIAA1109 in human) is a tube-forming lipid transport protein which provides phosphatidylethanolamine for glycosylphosphatidylinositol (GPI) anchor synthesis in the endoplasmic reticulum. It plays a role in endosomal trafficking and endosome recycling and it is also involved in the actin cytoskeleton and cilia structural dynamics [ , ]. BLTP1 also acts as a regulator of phagocytosis []. In humans, it has been associated with rheumatoid arthritis [, ]. Mutations of the BLTP1 gene has been associated with Alkuraya-Kucinskas syndrome (MIM 617822), a severe disorder of brain development and arthrogryposis [].Members of this entry belong to the repeating β-groove (RBG) superfamily together with VPS13, ATG2, SHIP164, BLTP2/FMP27, which are all conserved lipid transfer proteins containing long hydrophobic grooves [ ]. They all share the same structure comprising multiple repeating modules consisting of five β-sheets followed by a loop.
Short Name	BLTP1