title: The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles.
abstract: Biogenesis of lysosome-related organelles (LROs) complex-1 (BLOC-1) is an eight-subunit complex involved in lysosomal trafficking. Interacting proteins of these subunits expand the understanding of its biological functions. With the implementation of the naïve Bayesian analysis, we found that a human uncharacterized 20 kDa coiled-coil KxDL protein, KXD1, is a BLOS1-interacting protein. In vitro binding assays confirmed the interaction between BLOS1 and KXD1. The mouse KXD1 homolog was widely expressed and absent in Kxd1 knockout (KO) mice. BLOS1 was apparently reduced in Kxd1-KO mice. Mild defects in the melanosomes of the retinal pigment epithelia and in the platelet dense granules of the Kxd1-KO mouse were observed, mimicking a mouse model of mild Hermansky-Pudlak syndrome that affects the biogenesis of LROs.
authors.affiliation: State Key Laboratory of Molecular and Developmental Biology, Institute of Genetics & Developmental Biology, Chinese Academy of Sciences, Beijing, 100101, China.
authors.forename: Qing
authors.initials: Q
authors.lastname: Yang
authors.forename: Xin
authors.initials: X
authors.lastname: He
authors.forename: Lin
authors.initials: L
authors.lastname: Yang
authors.forename: Zhiyong
authors.initials: Z
authors.lastname: Zhou
authors.forename: Andrew R
authors.initials: AR
authors.lastname: Cullinane
authors.forename: Aihua
authors.initials: A
authors.lastname: Wei
authors.forename: Zhe
authors.initials: Z
authors.lastname: Zhang
authors.forename: Zhenhua
authors.initials: Z
authors.lastname: Hao
authors.forename: Aili
authors.initials: A
authors.lastname: Zhang
authors.forename: Min
authors.initials: M
authors.lastname: He
authors.forename: Yaqin
authors.initials: Y
authors.lastname: Feng
authors.forename: Xiang
authors.initials: X
authors.lastname: Gao
authors.forename: William A
authors.initials: WA
authors.lastname: Gahl
authors.forename: Marjan
authors.initials: M
authors.lastname: Huizing
authors.forename: Wei
authors.initials: W
authors.lastname: Li
mesh_terms: D000818:Animals; D001499:Bayes Theorem; D001792:Blood Platelets / Q000648:ultrastructure; D002352:Carrier Proteins / Q000737:chemistry / Q000235:genetics / Q000378:metabolism*; D004195:Disease Models, Animal; D005820:Genetic Testing; D022861:Hermanski-Pudlak Syndrome / Q000209:etiology / Q000235:genetics; D006801:Humans; D008247:Lysosomes / Q000378:metabolism; D051379:Mice; D018345:Mice, Knockout; D046529:Microscopy, Electron, Transmission; D009419:Nerve Tissue Proteins / Q000737:chemistry / Q000378:metabolism*; D054730:Protein Interaction Domains and Motifs / Q000235:genetics; D012160:Retina / Q000648:ultrastructure; D020798:Two-Hybrid System Techniques
chemical_list: C104378:BLOC1S1 protein, human; D002352:Carrier Proteins; C576215:KXD1 protein, human; D009419:Nerve Tissue Proteins