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Protein

Vacuolar-sorting protein SNF8

Gene

SNF8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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 (PubMed:22660413).4 Publications

GO - Molecular functioni

  • channel regulator activity Source: UniProtKB
  • protein C-terminus binding Source: UniProtKB
  • protein homodimerization activity Source: UniProtKB
  • protein N-terminus binding Source: UniProtKB
  • transcription factor binding Source: MGI

GO - Biological processi

  • autophagy Source: ParkinsonsUK-UCL
  • early endosome to late endosome transport Source: UniProtKB
  • endocytic recycling Source: UniProtKB
  • endosomal transport Source: Reactome
  • multivesicular body assembly Source: ParkinsonsUK-UCL
  • multivesicular body sorting pathway Source: ParkinsonsUK-UCL
  • positive regulation of exosomal secretion Source: UniProtKB
  • positive regulation of gene expression Source: UniProtKB
  • positive regulation of protein catabolic process Source: UniProtKB
  • protein targeting to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway Source: GO_Central
  • regulation of multivesicular body size involved in endosome transport Source: UniProtKB
  • regulation of protein catabolic process Source: UniProtKB
  • regulation of protein complex stability Source: UniProtKB
  • regulation of transcription from RNA polymerase II promoter Source: MGI
  • regulation of viral budding via host ESCRT complex Source: UniProtKB
  • transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Protein transport, Transcription, Transcription regulation, Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000159210-MONOMER.
ReactomeiR-HSA-917729. Endosomal Sorting Complex Required For Transport (ESCRT).

Names & Taxonomyi

Protein namesi
Recommended name:
Vacuolar-sorting protein SNF8
Alternative name(s):
ELL-associated protein of 30 kDa
ESCRT-II complex subunit VPS22
Short name:
hVps22
Gene namesi
Name:SNF8
Synonyms:EAP30
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:17028. SNF8.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • cytosol Source: UniProtKB
  • endosome membrane Source: UniProtKB
  • ESCRT II complex Source: ParkinsonsUK-UCL
  • extracellular exosome Source: UniProtKB
  • late endosome membrane Source: UniProtKB
  • membrane Source: UniProtKB
  • nucleoplasm Source: HPA
  • nucleus Source: UniProtKB
  • perinuclear region of cytoplasm Source: UniProtKB
  • plasma membrane Source: UniProtKB
  • recycling endosome Source: UniProtKB
  • transcription factor complex Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Endosome, Membrane, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi11267.
OpenTargetsiENSG00000159210.
PharmGKBiPA142670892.

Polymorphism and mutation databases

BioMutaiSNF8.
DMDMi73919323.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002152091 – 258Vacuolar-sorting protein SNF8Add BLAST258

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei4Omega-N-methylarginineCombined sources1

Keywords - PTMi

Methylation

Proteomic databases

EPDiQ96H20.
MaxQBiQ96H20.
PaxDbiQ96H20.
PeptideAtlasiQ96H20.
PRIDEiQ96H20.

PTM databases

iPTMnetiQ96H20.
PhosphoSitePlusiQ96H20.

Expressioni

Gene expression databases

BgeeiENSG00000159210.
CleanExiHS_SNF8.
ExpressionAtlasiQ96H20. baseline and differential.
GenevisibleiQ96H20. HS.

Organism-specific databases

HPAiHPA059320.

Interactioni

Subunit structurei

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.8 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ELLP551993EBI-747719,EBI-1245868
GOLGA2Q083793EBI-747719,EBI-618309
KDM1AO603412EBI-747719,EBI-710124
MCM2P497368EBI-747719,EBI-374819
POLR2AP249282EBI-747719,EBI-295301
PRMT6Q96LA82EBI-747719,EBI-912440
STAU1O95793-23EBI-747719,EBI-358189
TRIM54Q9BYV25EBI-747719,EBI-2130429
VAC14Q08AM63EBI-747719,EBI-2107455
VPS25Q9BRG111EBI-747719,EBI-741945

GO - Molecular functioni

  • protein C-terminus binding Source: UniProtKB
  • protein homodimerization activity Source: UniProtKB
  • protein N-terminus binding Source: UniProtKB
  • transcription factor binding Source: MGI

Protein-protein interaction databases

BioGridi116425. 41 interactors.
IntActiQ96H20. 17 interactors.
MINTiMINT-5001874.
STRINGi9606.ENSP00000421380.

Structurei

Secondary structure

1258
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi37 – 60Combined sources24
Helixi62 – 75Combined sources14
Helixi86 – 91Combined sources6
Helixi93 – 115Combined sources23
Beta strandi116 – 120Combined sources5
Helixi121 – 130Combined sources10
Turni131 – 134Combined sources4
Helixi141 – 151Combined sources11
Helixi152 – 154Combined sources3
Beta strandi155 – 157Combined sources3
Beta strandi159 – 163Combined sources5
Beta strandi166 – 170Combined sources5
Helixi178 – 187Combined sources10
Turni188 – 190Combined sources3
Beta strandi191 – 193Combined sources3
Helixi195 – 202Combined sources8
Helixi206 – 218Combined sources13
Beta strandi223 – 231Combined sources9
Beta strandi233 – 235Combined sources3
Helixi249 – 251Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2ZMEX-ray2.90A1-258[»]
3CUQX-ray2.61A25-258[»]
ProteinModelPortaliQ96H20.
SMRiQ96H20.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ96H20.

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili27 – 53Sequence analysisAdd BLAST27

Sequence similaritiesi

Belongs to the SNF8 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG3341. Eukaryota.
ENOG410XPVM. LUCA.
GeneTreeiENSGT00390000007843.
HOGENOMiHOG000170930.
HOVERGENiHBG079872.
InParanoidiQ96H20.
KOiK12188.
OMAiQMSKQLE.
OrthoDBiEOG091G0GWO.
PhylomeDBiQ96H20.
TreeFamiTF105950.

Family and domain databases

Gene3Di1.10.10.10. 2 hits.
InterProiIPR007286. EAP30.
IPR016689. ESCRT-2_cplx_Snf8.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PANTHERiPTHR12806. PTHR12806. 1 hit.
PfamiPF04157. EAP30. 1 hit.
[Graphical view]
PIRSFiPIRSF017215. ESCRT2_Vps22. 1 hit.
SUPFAMiSSF46785. SSF46785. 2 hits.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96H20-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MHRRGVGAGA IAKKKLAEAK YKERGTVLAE DQLAQMSKQL DMFKTNLEEF
60 70 80 90 100
ASKHKQEIRK NPEFRVQFQD MCATIGVDPL ASGKGFWSEM LGVGDFYYEL
110 120 130 140 150
GVQIIEVCLA LKHRNGGLIT LEELHQQVLK GRGKFAQDVS QDDLIRAIKK
160 170 180 190 200
LKALGTGFGI IPVGGTYLIQ SVPAELNMDH TVVLQLAEKN GYVTVSEIKA
210 220 230 240 250
SLKWETERAR QVLEHLLKEG LAWLDLQAPG EAHYWLPALF TDLYSQEITA

EEAREALP
Length:258
Mass (Da):28,864
Last modified:December 1, 2001 - v1
Checksum:iFD6CBA6BC0A4485E
GO
Isoform 2 (identifier: Q96H20-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     189-189: Missing.

Note: No experimental confirmation available.
Show »
Length:257
Mass (Da):28,736
Checksum:i14D47FA5682C9197
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti250A → P in AAD46560 (PubMed:10419521).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_015340189Missing in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF156102 mRNA. Translation: AAD46560.1.
BC008976 mRNA. Translation: AAH08976.1.
BC038830 mRNA. Translation: AAH38830.1.
CCDSiCCDS11541.1. [Q96H20-1]
CCDS82156.1. [Q96H20-2]
RefSeqiNP_001304121.1. NM_001317192.1. [Q96H20-2]
NP_001304122.1. NM_001317193.1.
NP_001304123.1. NM_001317194.1.
NP_009172.2. NM_007241.3. [Q96H20-1]
UniGeneiHs.127249.

Genome annotation databases

EnsembliENST00000290330; ENSP00000290330; ENSG00000159210. [Q96H20-2]
ENST00000502492; ENSP00000421380; ENSG00000159210. [Q96H20-1]
GeneIDi11267.
KEGGihsa:11267.
UCSCiuc002ioj.5. human. [Q96H20-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF156102 mRNA. Translation: AAD46560.1.
BC008976 mRNA. Translation: AAH08976.1.
BC038830 mRNA. Translation: AAH38830.1.
CCDSiCCDS11541.1. [Q96H20-1]
CCDS82156.1. [Q96H20-2]
RefSeqiNP_001304121.1. NM_001317192.1. [Q96H20-2]
NP_001304122.1. NM_001317193.1.
NP_001304123.1. NM_001317194.1.
NP_009172.2. NM_007241.3. [Q96H20-1]
UniGeneiHs.127249.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2ZMEX-ray2.90A1-258[»]
3CUQX-ray2.61A25-258[»]
ProteinModelPortaliQ96H20.
SMRiQ96H20.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116425. 41 interactors.
IntActiQ96H20. 17 interactors.
MINTiMINT-5001874.
STRINGi9606.ENSP00000421380.

PTM databases

iPTMnetiQ96H20.
PhosphoSitePlusiQ96H20.

Polymorphism and mutation databases

BioMutaiSNF8.
DMDMi73919323.

Proteomic databases

EPDiQ96H20.
MaxQBiQ96H20.
PaxDbiQ96H20.
PeptideAtlasiQ96H20.
PRIDEiQ96H20.

Protocols and materials databases

DNASUi11267.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000290330; ENSP00000290330; ENSG00000159210. [Q96H20-2]
ENST00000502492; ENSP00000421380; ENSG00000159210. [Q96H20-1]
GeneIDi11267.
KEGGihsa:11267.
UCSCiuc002ioj.5. human. [Q96H20-1]

Organism-specific databases

CTDi11267.
DisGeNETi11267.
GeneCardsiSNF8.
H-InvDBHIX0135631.
HGNCiHGNC:17028. SNF8.
HPAiHPA059320.
MIMi610904. gene.
neXtProtiNX_Q96H20.
OpenTargetsiENSG00000159210.
PharmGKBiPA142670892.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3341. Eukaryota.
ENOG410XPVM. LUCA.
GeneTreeiENSGT00390000007843.
HOGENOMiHOG000170930.
HOVERGENiHBG079872.
InParanoidiQ96H20.
KOiK12188.
OMAiQMSKQLE.
OrthoDBiEOG091G0GWO.
PhylomeDBiQ96H20.
TreeFamiTF105950.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000159210-MONOMER.
ReactomeiR-HSA-917729. Endosomal Sorting Complex Required For Transport (ESCRT).

Miscellaneous databases

ChiTaRSiSNF8. human.
EvolutionaryTraceiQ96H20.
GeneWikiiSNF8.
GenomeRNAii11267.
PROiQ96H20.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000159210.
CleanExiHS_SNF8.
ExpressionAtlasiQ96H20. baseline and differential.
GenevisibleiQ96H20. HS.

Family and domain databases

Gene3Di1.10.10.10. 2 hits.
InterProiIPR007286. EAP30.
IPR016689. ESCRT-2_cplx_Snf8.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PANTHERiPTHR12806. PTHR12806. 1 hit.
PfamiPF04157. EAP30. 1 hit.
[Graphical view]
PIRSFiPIRSF017215. ESCRT2_Vps22. 1 hit.
SUPFAMiSSF46785. SSF46785. 2 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiSNF8_HUMAN
AccessioniPrimary (citable) accession number: Q96H20
Secondary accession number(s): Q8IXY3, Q9UN50
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 30, 2005
Last sequence update: December 1, 2001
Last modified: November 30, 2016
This is version 136 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.