Aliases for MIA3 Gene
External Ids for MIA3 Gene
Previous GeneCards Identifiers for MIA3 Gene
GeneCards Summary for MIA3 Gene
MIA3 (MIA SH3 Domain ER Export Factor 3) is a Protein Coding gene. Diseases associated with MIA3 include Inflammatory And Toxic Neuropathy and Alcoholic Neuropathy. Among its related pathways are Vesicle-mediated transport and Transport to the Golgi and subsequent modification. An important paralog of this gene is MIA2.
UniProtKB/Swiss-Prot Summary for MIA3 Gene
Plays a role in the transport of cargos that are too large to fit into COPII-coated vesicles and require specific mechanisms to be incorporated into membrane-bound carriers and exported from the endoplasmic reticulum. This protein is required for collagen VII (COL7A1) secretion by loading COL7A1 into transport carriers. It may participate in cargo loading of COL7A1 at endoplasmic reticulum exit sites by binding to COPII coat subunits Sec23/24 and guiding SH3-bound COL7A1 into a growing carrier. Does not play a role in global protein secretion and is apparently specific to COL7A1 cargo loading. However, it may participate in secretion of other proteins in cells that do not secrete COL7A1. It is also specifically required for the secretion of lipoproteins by participating in their export from the endoplasmic reticulum (PubMed:27138255, PubMed:19269366). Required for correct assembly of COPII coat components at endoplasmic reticulum exit sites (ERES) and for the localization of SEC16A and membrane-bound ER-resident complexes consisting of MIA2 and PREB/SEC12 to ERES (PubMed:28442536).