Gene Symbol: MVB12B
Description: multivesicular body subunit 12B
Alias: C9orf28, FAM125B, multivesicular body subunit 12B, ESCRT-I complex subunit MVB12B, family with sequence similarity 125, member B
Boura E, Hurley J. Structural basis for membrane targeting by the MVB12-associated ?-prism domain of the human ESCRT-I MVB12 subunit. Proc Natl Acad Sci U S A. 2012;109:1901-6 pubmed publisher
..The 1.3-Å atomic resolution crystal structure of the MVB12B MABP domain reveals a ?-prism fold, a hydrophobic membrane-anchoring loop, and an electropositive phosphoinositide-..
Audhya A, McLeod I, Yates J, Oegema K. MVB-12, a fourth subunit of metazoan ESCRT-I, functions in receptor downregulation. PLoS ONE. 2007;2:e956 pubmed
..MVB-12 has two human homologs that co-localize and co-immunoprecipitate with the ESCRT-I component TSG101. Thus, MVB-12 is a conserved core component of metazoan ESCRT-I that regulates its activity during MVB biogenesis. ..
Morita E, Sandrin V, Alam S, Eckert D, Gygi S, Sundquist W. Identification of human MVB12 proteins as ESCRT-I subunits that function in HIV budding. Cell Host Microbe. 2007;2:41-53 pubmed
..We now demonstrate that two related human proteins (MVB12A and MVB12B) constitute the fourth class of metazoan ESCRT-I subunits, despite lacking identifiable sequence homology to ..
Sette P, Nagashima K, Piper R, Bouamr F. Ubiquitin conjugation to Gag is essential for ESCRT-mediated HIV-1 budding. Retrovirology. 2013;10:79 pubmed publisher
..These studies demonstrate a necessary and natural role for ubiquitin in ESCRT-dependent viral release and indicate a critical role for ubiquitination of Gag rather than ubiquitination of ESCRTs themselves. ..
Tsunematsu T, Yamauchi E, Shibata H, Maki M, Ohta T, Konishi H. Distinct functions of human MVB12A and MVB12B in the ESCRT-I dependent on their posttranslational modifications. Biochem Biophys Res Commun. 2010;399:232-7 pubmed publisher
..In humans, the structurally similar subtypes MVB12A and MVB12B are subunits of ESCRT-I. However, no functional description of these proteins has been described...
Nag A, Venturini C, Small K, Young T, Viswanathan A, Mackey D, et al
. A genome-wide association study of intra-ocular pressure suggests a novel association in the gene FAM125B in the TwinsUK cohort. Hum Mol Genet. 2014;23:3343-8 pubmed publisher
..10(-8) for rs2286885, the most significantly associated SNP at this locus), within the genomic sequence of the FAM125B gene...