Gene Symbol |
TRIM72
|
Entrez Gene |
493829
|
Alt Symbol |
MG53
|
Species |
Human
|
Gene Type |
protein-coding
|
Description |
tripartite motif containing 72, E3 ubiquitin protein ligase
|
Other Description |
mitsugumin 53|mitsugumin-53|tripartite motif-containing 72|tripartite motif-containing protein 72
|
Swissprots |
Q8NBD9 Q8N4X6 Q6ZMU5
|
Accessions |
EAW52145 EAW52146 Q6ZMU5 AK090695 BAC03506 AK131485 BAD18630 BC033211 AAH33211 DA058421 DA821604 NM_001008274 NP_001008275
|
Function |
Muscle-specific protein that plays a central role in cell membrane repair by nucleating the assembly of the repair machinery at injury sites. Specifically binds phosphatidylserine. Acts as a sensor of oxidation: upon membrane damage, entry of extracellular oxidative environment results in disulfide bond formation and homooligomerization at the injury site. This oligomerization acts as a nucleation site for recruitment of TRIM72-containing vesicles to the injury site, leading to membrane patch formation. Probably acts upstream of the Ca(2+)-dependent membrane resealing process. Required for transport of DYSF to sites of cell injury during repair patch formation. Regulates membrane budding and exocytosis. May be involved in the regulation of the mobility of KCNB1-containing endocytic vesicles (By similarity). {ECO:0000250}.
|
Subcellular Location |
Cell membrane, sarcolemma {ECO:0000250}. Cytoplasmic vesicle membrane {ECO:0000250}. Note=Tethered to plasma membrane and cytoplasmic vesicles via its interaction with phosphatidylserine. {ECO:0000250}.
|