Gene Symbol: VIPAS39
Description: VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
Alias: C14orf133, SPE-39, SPE39, VIPAR, VPS16B, hSPE-39, spermatogenesis-defective protein 39 homolog, VPS33B-interacting protein involved in polarity and apical protein restriction
Cullinane A, Straatman Iwanowska A, Zaucker A, Wakabayashi Y, Bruce C, Luo G, et al
. Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization. Nat Genet. 2010;42:303-12 pubmed publisher
..Mutations in VPS33B account for most cases of ARC. We identified mutations in VIPAR (also called C14ORF133) in individuals with ARC without VPS33B defects...
Zhu G, Salazar G, Zlatic S, Fiza B, Doucette M, Heilman C, et al
. SPE-39 family proteins interact with the HOPS complex and function in lysosomal delivery. Mol Biol Cell. 2009;20:1223-40 pubmed publisher
..The human SPE-39 orthologue C14orf133 also interacts with VPS33 homologues and both coimmunoprecipitates and cosediments with other HOPS subunits...
Bruce C, Smith M, Rahman F, Liu Z, McMullan D, Ball S, et al
. Design and validation of a metabolic disorder resequencing microarray (BRUM1). Hum Mutat. 2010;31:858-65 pubmed publisher
..52 different known variants (including point variants, small insertion, and deletions [indels]) in seven genes (C14ORF133, GAA, NPC1, NPC2, VPS33B, WFS1, and SLC19A2) were amplified by PCR and hybridized to the array...
Ishii A, Kamimori K, Hiyoshi M, Kido H, Ohta T, Konishi H. Inhibitory effect of SPE-39 due to tyrosine phosphorylation and ubiquitination on the function of Vps33B in the EGF-stimulated cells. FEBS Lett. 2012;586:2245-50 pubmed publisher
..Furthermore, an opposing functional relationship between SPE-39 and Vps33B on the downregulation of the EGF receptor was observed in EGF-stimulated COS-7 cells. ..
Urban D, Li L, Christensen H, Pluthero F, Chen S, Puhacz M, et al
. The VPS33B-binding protein VPS16B is required in megakaryocyte and platelet ?-granule biogenesis. Blood. 2012;120:5032-40 pubmed publisher
..from a patient with arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome containing mutations in C14orf133 encoding VPS16B revealed pale-appearing platelets in blood films and electron microscopy revealed a complete ..
Shagrani M, Burkholder J, Broering D, Abouelhoda M, Faquih T, El Kalioby M, et al
. Genetic profiling of children with advanced cholestatic liver disease. Clin Genet. 2017;92:52-61 pubmed publisher
..g. TJP2 and VIPAS39. We find no evidence to support mono-allelic phenotypic expression in the carrier parents despite the severe ..
Tornieri K, Zlatic S, Mullin A, Werner E, Harrison R, L hernault S, et al
. Vps33b pathogenic mutations preferentially affect VIPAS39/SPE-39-positive endosomes. Hum Mol Genet. 2013;22:5215-28 pubmed publisher
..The later disease is also caused by mutations in VIPAS39, (Vps33b interacting protein, apical-basolateral polarity regulator, SPE-39 homolog; ARC2), a protein that ..
van der Kant R, Jonker C, Wijdeven R, Bakker J, Janssen L, Klumperman J, et al
. Characterization of the Mammalian CORVET and HOPS Complexes and Their Modular Restructuring for Endosome Specificity. J Biol Chem. 2015;290:30280-90 pubmed publisher
..of interactions within the mammalian CORVET and HOPS as well as an additional endosomal-targeting complex (VIPAS39-VPS33B) that does not exist in yeast...
Banushi B, Forneris F, Straatman Iwanowska A, Strange A, Lyne A, Rogerson C, et al
. Regulation of post-Golgi LH3 trafficking is essential for collagen homeostasis. Nat Commun. 2016;7:12111 pubmed publisher
..We discovered that VIPAR, with its partner proteins, regulate sorting of lysyl hydroxylase 3 (LH3, also known as PLOD3) into newly ..