Molecular Target Synopsis
Overview
Domains and Structures
Drugs and Clinical Candidates
Druggability
Chemistry
Ligand Efficiency Plot
Pathways
Family Cladogram
Interaction Network
Gene Expression
Gene Copy Number Variation
RNAi
Mutations
Germline Genetics

MVB12A (Q96EY5) - Overview - Molecular Target Synopsis

Protein


MVB12A, Multivesicular body subunit 12A
UniProt Q96EY5

Also Known as MB12A_HUMAN, MVB12A, CFBP, FAM125A

Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies. May be involved in the ligand-mediated internalization and down-regulation of EGF receptor. Component of the ESCRT-I complex (endosomal sorting complex required for transport I) which consists of TSG101, VPS28, a VPS37 protein (VPS37A to -D) and MVB12A or MVB12B in a 1:1:1:1 stoichiometry. Interacts with CD2AP and CIN85/SH3KBP1. Interacts with CD2AP (via one of the SH3 domains). Interacts with TSG101; the association appears to be mediated by the TSG101-VPS37 binary subcomplex. Interacts with VPS28. Interacts with VPS37B; the association appears to be mediated by the TSG101-VPS37 binary subcomplex. Interacts with VPS37C; the association appears to be mediated by the TSG101-VPS37 binary subcomplex. Interacts with VPS37D; the association appears to be mediated by the TSG101-VPS37 binary subcomplex. Interacts with CEP55.

Isoforms / Transcripts (Protein Coding)


Sub-cellular localization


UniProt: MVB12A is active in the following subcellular-locations: centrosome, cytoplasm, cytoskeleton, endosome, late endosome membrane, microtubule organizing center, nucleus.
GO terms: MVB12A is active in the following subcellular-locations: centrosome, cytosol, endosome membrane, ESCRT I complex, extracellular exosome, Golgi apparatus, late endosome membrane, nucleoplasm, vesicle.



UniProt
GO terms

Gene Copy Number Variation


In COSMIC - Cell Lines Project MVB12A has gain in 1 cell-lines, loss in 1 cell-lines and no signal in 1003 cell-lines. (see details)

Gene Expression


In NCI60, the highest expressing cell lines are:

In Array Express (RNA-seq of 675 commonly used human cancer cell lines), the highest expressing cell lines are: MFM-223, A-375, 105KC

In Array Express (RNA-seq of long poly adenylated RNA and long non poly adenylated RNA from ENCODE cell lines), the highest expressing cell lines are: SK-N-SH, HUVEC, HeLa-S3

(see details)