This gene encodes a protein that sorts transmembrane proteins into lysosomes/vacuoles via the multivesicular body (MVB) pathway. This protein, along with other soluble coiled-coil containing proteins, forms part of the ESCRT-III protein complex that binds to the endosomal membrane and recruits additional cofactors for protein sorting into the MVB. This protein may also co-immunoprecipitate with a member of the IFG-binding protein superfamily. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ring finger protein 103 (RNF103) gene. [provided by RefSeq, Nov 2010]
Function:
Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HISLV1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. Selectively binds to phosphatidylinositol 3,5-bisphosphate PtdIns(3,5)P2 and PtdIns(3,4)P2 in preference to other phosphoinositides tested. Involved in late stages of cytokinesis. Required for sorting/trafficking of EGF receptor.
Subcellular Location:
Cytoplasm > cytosol. Membrane. Endosome. Late endosome membrane. Localizes to the midbody of dividing cells.
Tissue Specificity:
Widely expressed. Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
Similarity:
Belongs to the SNF7 family.
SWISS:
Q9Y3E7
Gene ID:
51652
Database links:
Entrez Gene: 422918 Chicken
Entrez Gene: 507722 Cow
Entrez Gene: 51652 Human
Entrez Gene: 66700 Mouse
Entrez Gene: 282834 Rat
Entrez Gene: 406621 Zebrafish
Omim: 610052 Human
SwissProt: Q58CS7 Cow
SwissProt: Q9Y3E7 Human
SwissProt: Q9CQ10 Mouse
SwissProt: Q8CGS4 Rat
SwissProt: Q6NY88 Zebrafish
Unigene: 591582 Human
Unigene: 181278 Mouse
Unigene: 162751 Rat
Unigene: 48763 Zebrafish
|
|
