ESCRT-1, MVB12B (Kr.9q33.3), C9orf28, FAM125B

ESCRT-1 . MVB12B

https://www.ncbi.nlm.nih.gov/gene/93343

Also known as C9orf28; FAM125B

Summary The protein encoded by this gene is a component of the ESCRT-I complex, a heterotetramer, which mediates the sorting of ubiquitinated cargo protein from the plasma membrane to the endosomal vesicle. ESCRT-I complex plays an essential role in HIV budding and endosomal protein sorting. Depletion and overexpression of this and related protein (MVB12A) inhibit HIV-1 infectivity and induce unusual viral assembly defects, indicating a role for MVB12 subunits in regulating ESCRT-mediated virus budding. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

Expression Broad expression in brain (RPKM 8.1), lung (RPKM 5.2) and 23 other tissues See more Orthologs mouse all

Preferred Names

multivesicular body subunit 12B

Names

ESCRT-I complex subunit MVB12B

family with sequence similarity 125, member B

Peptide sequence, isoform 2, transcript variant 2. (221 a.a.)

https://www.ncbi.nlm.nih.gov/protein/NP_001011703.1

Proline rich pq- sequence 12-24 (ppppqppppppq)

Related articles in PubMed

1. A genome-wide association study of intra-ocular pressure suggests a novel association in the gene FAM125B in the TwinsUK cohort. Nag A, et al. Hum Mol Genet, 2014 Jun 15. PMID 24518671, Free PMC Article
2. MVB-12, a fourth subunit of metazoan ESCRT-I, functions in receptor downregulation. Audhya A, et al. PLoS One, 2007 Sep 26. PMID 17895996, Free PMC Article
3. Ubiquitin conjugation to Gag is essential for ESCRT-mediated HIV-1 budding. Sette P, et al. Retrovirology, 2013 Jul 29. PMID 23895345, Free PMC Article
4. Structural basis for membrane targeting by the MVB12-associated β-prism domain of the human ESCRT-I MVB12 subunit. Boura E, et al. Proc Natl Acad Sci U S A, 2012 Feb 7. PMID 22232651, Free PMC Article
5. Distinct functions of human MVB12A and MVB12B in the ESCRT-I dependent on their posttranslational modifications. Tsunematsu T, et al. Biochem Biophys Res Commun, 2010 Aug 20. PMID 20654576
   

See all (21) citations in PubMed