| Gene Symbol |
MVB12A
|
| Entrez Gene |
93343
|
| Alt Symbol |
CFBP, FAM125A
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
multivesicular body subunit 12A
|
| Other Description |
CIN85/CD2AP family binding protein|ESCRT-I complex subunit MVB12A|family with sequence similarity 125, member A
|
| Swissprots |
Q96I18 Q96EY5
|
| Accessions |
CAC38635 EAW84604 EAW84605 Q96EY5 AK057057 AK289487 BAF82176 BC007883 AAH07883 BC011840 AAH11840 BG684013 BP394542 BY996463 CD672349 DR006745 HG510441 HG510444 NM_001304547 NP_001291476 NM_138401 NP_612410
|
| Function |
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. {ECO:0000269|PubMed:16895919}.
|
| Subcellular Location |
Cytoplasm. Nucleus. Endosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Late endosome membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}. Note=Colocalizes with F-actin. Some fraction may be nuclear.
|
| Tissue Specificity |
Ubiquitously expressed except in skeletal muscle. {ECO:0000269|PubMed:16895919}.
|
| Top Pathways |
Endocytosis
|