Q96H20 · SNF8_HUMAN
- ProteinVacuolar-sorting protein SNF8
- GeneSNF8
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids258 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
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, and plays a role in autophagy (PubMed:38423010).
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 (PubMed:22660413).
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 (PubMed:22660413).
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Keywords
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameVacuolar-sorting protein SNF8
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ96H20
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Note: Recruited to the endosome membrane to participate in vesicle formation.
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Developmental and epileptic encephalopathy 115 (DEE115)
- Note
- DescriptionA form of epileptic encephalopathy, a heterogeneous group of early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE115 is an autosomal recessive, severe form characterized by onset soon after birth. Affected individuals show massive reduction of white matter, hypo- or aplasia of the corpus callosum, and neurodevelopmental arrest. Death in the first year of life may occur.
- See alsoMIM:620783
Natural variants in DEE115
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_089579 | 79 | P>L | in DEE115 and NEDOA; likely pathogenic | |
VAR_089581 | 167-258 | missing | in DEE115; pathogenic; fails to rescue defective embryo development in a zebrafish disease model | |
VAR_089582 | 191 | G>D | in DEE115; likely pathogenic | |
VAR_089583 | 208 | R>L | in DEE115; likely pathogenic |
Neurodevelopmental disorder plus optic atrophy (NEDOA)
- Note
- DescriptionAn autosomal recessive disorder characterized by mild developmental delay, intellectual disability and childhood-onset optic atrophy or ataxia.
- See alsoMIM:620784
Natural variants in NEDOA
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_089579 | 79 | P>L | in DEE115 and NEDOA; likely pathogenic | |
VAR_089580 | 102 | V>I | in NEDOA; likely pathogenic; fails to rescue defective embryo development in a zebrafish disease model |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | ||
---|---|---|---|---|---|
Natural variant | VAR_089579 | 79 | in DEE115 and NEDOA; likely pathogenic | ||
Natural variant | VAR_089580 | 102 | in NEDOA; likely pathogenic; fails to rescue defective embryo development in a zebrafish disease model | ||
Natural variant | VAR_089581 | 167-258 | in DEE115; pathogenic; fails to rescue defective embryo development in a zebrafish disease model | ||
Natural variant | VAR_089582 | 191 | in DEE115; likely pathogenic | ||
Natural variant | VAR_089583 | 208 | in DEE115; likely pathogenic | ||
Variants
![](/variants.8e7f84.jpg)
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 256 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | ||
---|---|---|---|---|---|---|
Chain | PRO_0000215209 | 1-258 | UniProt | Vacuolar-sorting protein SNF8 | ||
Modified residue | 4 | UniProt | Omega-N-methylarginine | |||
Modified residue (large scale data) | 38 | PTMeXchange | Sumoylated lysine | |||
Modified residue (large scale data) | 44 | PTMeXchange | Sumoylated lysine | |||
Modified residue (large scale data) | 53 | PTMeXchange | Sumoylated lysine | |||
Modified residue (large scale data) | 134 | PTMeXchange | Sumoylated lysine | |||
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Interaction
Subunit
Component of the endosomal sorting complex required for transport II (ESCRT-II), composed of SNF8, VPS25 and VPS36. SNF8 is essential for the stability of the ESCRT-II complex. ESCRT-II interacts with ELL. Interacts with TSG101 (via the C-terminal domain). Interacts with RILPL1 (via the N-terminal domain); which recruits ESCRT-II to the endosome membranes. Interacts with 14-3-3 proteins.
Binary interactions
Complex viewer
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for coiled coil.
Type | ID | Position(s) | Description | ||
---|---|---|---|---|---|
Coiled coil | 27-53 | ||||
Sequence similarities
Belongs to the SNF8 family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoform
- Sequence statusComplete
This entry describes 2 isoforms produced by Alternative splicing.
Q96H20-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length258
- Mass (Da)28,864
- Last updated2001-12-01 v1
- MD5 ChecksumBE53A65A12B5E0C2F2897FD2FF522BBE
Q96H20-2
- Name2
- Differences from canonical
- 189-189: Missing
Computationally mapped potential isoform sequences
There are 7 potential isoforms mapped to this entry
Features
Showing features for alternative sequence, sequence conflict.
Type | ID | Position(s) | Description | ||
---|---|---|---|---|---|
Alternative sequence | VSP_015340 | 189 | in isoform 2 | ||
Sequence conflict | 250 | in Ref. 1; AAD46560 | |||
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF156102 EMBL· GenBank· DDBJ | AAD46560.1 EMBL· GenBank· DDBJ | mRNA | ||
BC008976 EMBL· GenBank· DDBJ | AAH08976.1 EMBL· GenBank· DDBJ | mRNA | ||
BC038830 EMBL· GenBank· DDBJ | AAH38830.1 EMBL· GenBank· DDBJ | mRNA |