SNF8 Gene Summary [Human]
The protein encoded by this gene is a component of the endosomal sorting complex required for transport II (ESCRT-II), which regulates the movement of ubiquitinylated transmembrane proteins to the lysosome for degradation. This complex also interacts with the RNA polymerase II elongation factor (ELL) to overcome the repressive effects of ELL on RNA polymerase II activity. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
Details
| Type | Protein Coding |
| Official Symbol | SNF8 |
| Official Name | SNF8 subunit of ESCRT-II [Source:HGNC Symbol;Acc:HGNC:17028] |
| Ensembl ID | ENSG00000159210 |
| Bio databases IDs | |
| Aliases | SNF8 subunit of ESCRT-II |
| Synonyms | D11Moh34, DEE115, Dot3, EAP30, NEDOA, RGD1310144, SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae), SNF8 subunit of ESCRT-II, VPS22 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SNF8 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- channel regulator
- lipid binding
- EAP30/Vps36 family
- protein homodimerization
- transcription factor binding
- enzyme
- protein binding
Pathways
Biological processes and signaling networks where the SNF8 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- developmental and epileptic encephalopathy type 115
- neurodevelopmental disorder plus optic atrophy
role in cell
- expression in
- activation in
- internalization in
- accumulation in
- degradation in
- signaling in
- assembly
- sorting
- macroautophagy in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- perinuclear region
- cellular membrane
- Nucleus
- Plasma Membrane
- cytosol
- endosomal membrane
- nucleoplasm
- recycling endosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SNF8 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein targeting to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway
- regulation of MAP kinase activity
- membrane fission
- positive regulation of gene expression
- early endosome to late endosome transport
- regulation of protein catabolic process
- multivesicular body sorting pathway
- positive regulation of protein catabolic process
- endocytic recycling
- macroautophagy
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- ESCRT II complex
- plasma membrane
- nucleoplasm
- nucleus
- late endosome membrane
- transcription factor complex
- extracellular vesicular exosome
- perinuclear region of cytoplasm
- cytoplasm
- membrane
- cytosol
- endosome membrane
- recycling endosome
Molecular Function
What the gene product does at the molecular level
- protein binding
- protein homodimerization activity
- lipid binding
- channel regulator activity