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SNF8
Component of the endosomal sorting complex required for transport II (ESCRT-II), which is required for multivesicular body (MVB) formation and sorting of endosomal cargo proteins into MVBs. The MVB pathway mediates delivery of transmembrane proteins into the lumen of the lysosome for degradation. The ESCRT-II complex is probably involved in the recruitment of the ESCRT-III complex. The ESCRT-II complex may also play a role in transcription regulation by participating in derepression of transcription by RNA polymerase II, possibly via its interaction with ELL. Required for degradation of both endocytosed EGF and EGFR, but not for the EGFR ligand-mediated internalization. It is also required for the degradation of CXCR4. Required for the exosomal release of SDCBP, CD63 and syndecan. Belongs to the SNF8 family. 2 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
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| Protein type: Transcription factor |
| Chromosomal Location of human Ortholog: 17q21.32 |
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Cellular Component:
cytoplasm; cytosol; endosome membrane; ESCRT II complex; late endosome membrane; membrane; nucleoplasm; nucleus; perinuclear region of cytoplasm; plasma membrane; recycling endosome; transcription regulator complex
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Molecular Function:
channel regulator activity; lipid binding; protein binding; protein homodimerization activity
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Biological Process:
early endosome to late endosome transport; endocytic recycling; localization; macroautophagy; membrane fission; multivesicular body assembly; multivesicular body sorting pathway; positive regulation of exosomal secretion; positive regulation of gene expression; positive regulation of protein catabolic process; protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway; regulation of MAP kinase activity; regulation of protein catabolic process; regulation of protein complex stability; regulation of transcription by RNA polymerase II
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Disease: Developmental And Epileptic Encephalopathy 115; Neurodevelopmental Disorder Plus Optic Atrophy
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Reference #:
Q96H20
(UniProtKB)
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Alt. Names/Synonyms: Dot3; EAP30; EAP30 subunit of ELL complex; ELL-associated protein of 30 kDa; ESCRT-II complex subunit VPS22; hVps22; SNF8; SNF8 subunit of ESCRT-II; SNF8, ESCRT-II complex subunit, homolog; SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae); Vacuolar-sorting protein SNF8; VPS22
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Gene Symbols: SNF8
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Molecular weight:
28,864 Da
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Basal Isoelectric point:
6.2
Predict pI for various phosphorylation states
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