Q96H20 · SNF8_HUMAN

  • Protein
    Vacuolar-sorting protein SNF8
  • Gene
    SNF8
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

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).

GO annotations

all annotationsall molecular functionvirus receptor activitydna bindingrna bindingcytoskeletal motor activitycatalytic activitygtpase activitystructural molecule activitytransporter activitycytoskeletal protein bindinglipid bindingcyclase activityantioxidant activityoxidoreductase activitytransferase activityhydrolase activitylyase activityisomerase activityligase activityprotein tag activitycargo receptor activityhistone bindingprotein folding chaperonetranslation regulator activitynutrient reservoir activityreceptor ligand activitymolecular transducer activitymolecular adaptor activitytoxin activitycell adhesion mediator activitymolecular function regulator activityvirus coreceptor activitycatalytic activity, acting on a proteincatalytic activity, acting on dnacatalytic activity, acting on rnamolecular carrier activitytranscription regulator activitygeneral transcription initiation factor activitymolecular sensor activitymolecular sequestering activityatp-dependent activityother molecular functionall biological processmitotic cell cyclecytokinesiscytoplasmic translationimmune system processmuscle system processcirculatory system processrenal system processrespiratory system processcarbohydrate metabolic processgeneration of precursor metabolites and energydna replicationdna repairdna recombinationchromatin organizationdna-templated transcriptionregulation of dna-templated transcriptiontrna metabolic processprotein foldingprotein glycosylationamino acid metabolic processmodified amino acid metabolic processlipid metabolic processvitamin metabolic processsulfur compound metabolic processintracellular protein transportnucleocytoplasmic transportautophagyinflammatory responsemitochondrion organizationcytoskeleton organizationmicrotubule-based movementperoxisome organizationlysosome organizationchromosome segregationcell adhesionestablishment or maintenance of cell polarityprogrammed cell deathphotosynthesismrna metabolic processsnrna metabolic processvesicle-mediated transportreproductive processdigestive system processsignalingcell differentiationprotein catabolic processextracellular matrix organizationregulatory ncrna-mediated gene silencingtelomere organizationcell junction organizationwound healingribosome biogenesiscilium organizationanatomical structure developmentcell motilitynervous system processendocrine processprotein maturationtransmembrane transportnucleobase-containing small molecule metabolic processhepaticobiliary system processmembrane organizationprotein-containing complex assemblycell wall organization or biogenesisnitrogen cycle metabolic processprotein localization to plasma membranedefense response to other organismdetoxificationmeiotic nuclear divisionmitotic nuclear divisionmitochondrial gene expressioncarbohydrate derivative metabolic processother biological processall cellular componentnuclear chromosomeextracellular regionextracellular spacecell wallnucleusnuclear envelopenucleoplasmchromosomenucleolusmitochondrionlysosomeendosomevacuoleperoxisomeendoplasmic reticulumgolgi apparatuslipid dropletmicrotubule organizing centercytosolribosomecytoskeletonplasma membraneciliumplastidthylakoidexternal encapsulating structureextracellular matrixcytoplasmic vesicleorganelleother cellular component
Cell color indicative of number of GO terms
AspectTerm
Cellular Componentcytoplasm
Cellular Componentcytosol
Cellular Componentendosome membrane
Cellular ComponentESCRT II complex
Cellular Componentextracellular exosome
Cellular Componentlate endosome membrane
Cellular Componentmembrane
Cellular Componentnucleoplasm
Cellular Componentnucleus
Cellular Componentperinuclear region of cytoplasm
Cellular Componentplasma membrane
Cellular Componentrecycling endosome
Cellular Componenttranscription regulator complex
Molecular Functionchannel regulator activity
Molecular Functionlipid binding
Molecular Functionprotein homodimerization activity
Biological Processearly endosome to late endosome transport
Biological Processendocytic recycling
Biological Processmacroautophagy
Biological Processmembrane fission
Biological Processmultivesicular body assembly
Biological Processmultivesicular body sorting pathway
Biological Processpositive regulation of exosomal secretion
Biological Processpositive regulation of gene expression
Biological Processpositive regulation of protein catabolic process
Biological Processprotein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway
Biological Processregulation of protein catabolic process
Biological Processregulation of protein complex stability
Biological Processregulation of transcription by RNA polymerase II

Keywords

Enzyme and pathway databases

Names & Taxonomy

Protein names

  • Recommended name
    Vacuolar-sorting protein SNF8
  • Alternative names
    • ELL-associated protein of 30 kDa
    • ESCRT-II complex subunit VPS22 (hVps22)

Gene names

    • Name
      SNF8
    • Synonyms
      EAP30

Organism names

  • Taxonomic identifier
  • Taxonomic lineage
    Eukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo

Accessions

  • Primary accession
    Q96H20
  • Secondary accessions
    • Q8IXY3
    • Q9UN50

Proteomes

Organism-specific databases

Disease & Variants

Involvement in disease

Developmental and epileptic encephalopathy 115 (DEE115)

  • Note
    • The disease is caused by variants affecting the gene represented in this entry
  • Description
    A 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 also
    MIM:620783
Natural variants in DEE115
Variant IDPosition(s)ChangeDescription
VAR_08957979P>Lin DEE115 and NEDOA; likely pathogenic
VAR_089581167-258missingin DEE115; pathogenic; fails to rescue defective embryo development in a zebrafish disease model
VAR_089582191G>Din DEE115; likely pathogenic
VAR_089583208R>Lin DEE115; likely pathogenic

Neurodevelopmental disorder plus optic atrophy (NEDOA)

  • Note
    • The disease is caused by variants affecting the gene represented in this entry
  • Description
    An autosomal recessive disorder characterized by mild developmental delay, intellectual disability and childhood-onset optic atrophy or ataxia.
  • See also
    MIM:620784
Natural variants in NEDOA
Variant IDPosition(s)ChangeDescription
VAR_08957979P>Lin DEE115 and NEDOA; likely pathogenic
VAR_089580102V>Iin NEDOA; likely pathogenic; fails to rescue defective embryo development in a zebrafish disease model

Features

Showing features for natural variant.

TypeIDPosition(s)Description
Natural variantVAR_08957979in DEE115 and NEDOA; likely pathogenic
Natural variantVAR_089580102in NEDOA; likely pathogenic; fails to rescue defective embryo development in a zebrafish disease model
Natural variantVAR_089581167-258in DEE115; pathogenic; fails to rescue defective embryo development in a zebrafish disease model
Natural variantVAR_089582191in DEE115; likely pathogenic
Natural variantVAR_089583208in DEE115; likely pathogenic

Variants

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.

Go to variant viewer

Keywords

Organism-specific databases

Miscellaneous

Genetic variation databases

PTM/Processing

Features

Showing features for chain, modified residue, modified residue (large scale data).

Type
IDPosition(s)Source
Description
ChainPRO_00002152091-258UniProtVacuolar-sorting protein SNF8
Modified residue4UniProtOmega-N-methylarginine
Modified residue (large scale data)38PTMeXchangeSumoylated lysine
Modified residue (large scale data)44PTMeXchangeSumoylated lysine
Modified residue (large scale data)53PTMeXchangeSumoylated lysine
Modified residue (large scale data)134PTMeXchangeSumoylated lysine

Keywords

Proteomic databases

PTM databases

Expression

Gene expression databases

Organism-specific databases

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

Family & Domains

Features

Showing features for coiled coil.

TypeIDPosition(s)Description
Coiled coil27-53

Sequence similarities

Belongs to the SNF8 family.

Keywords

Phylogenomic databases

Family and domain databases

Sequence & Isoform

Align isoforms (2)
  • Sequence status
    Complete

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.

  • Length
    258
  • Mass (Da)
    28,864
  • Last updated
    2001-12-01 v1
  • MD5 Checksum
    BE53A65A12B5E0C2F2897FD2FF522BBE
MHRRGVGAGAIAKKKLAEAKYKERGTVLAEDQLAQMSKQLDMFKTNLEEFASKHKQEIRKNPEFRVQFQDMCATIGVDPLASGKGFWSEMLGVGDFYYELGVQIIEVCLALKHRNGGLITLEELHQQVLKGRGKFAQDVSQDDLIRAIKKLKALGTGFGIIPVGGTYLIQSVPAELNMDHTVVLQLAEKNGYVTVSEIKASLKWETERARQVLEHLLKEGLAWLDLQAPGEAHYWLPALFTDLYSQEITAEEAREALP

Q96H20-2

  • Name
    2
  • See also
    sequence in UniParc or sequence clusters in UniRef
  • Differences from canonical

Computationally mapped potential isoform sequences

There are 7 potential isoforms mapped to this entry

View all
EntryEntry nameGene nameLength
D6RJ86D6RJ86_HUMANSNF8141
D6RFY6D6RFY6_HUMANSNF8167
D6RBI1D6RBI1_HUMANSNF8103
H0Y8S5H0Y8S5_HUMANSNF881
K7EPV2K7EPV2_HUMANSNF816
I3L457I3L457_HUMANSNF836
I3L2X5I3L2X5_HUMANSNF853

Features

Showing features for alternative sequence, sequence conflict.

Type
IDPosition(s)Description
Alternative sequenceVSP_015340189in isoform 2
Sequence conflict250in Ref. 1; AAD46560

Keywords

Sequence databases

Nucleotide SequenceProtein SequenceMolecule TypeStatus
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

Genome annotation databases

Similar Proteins

Disclaimer

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