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Protein

Vacuolar-sorting protein SNF8

Gene

SNF8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Biological processProtein transport, Transcription, Transcription regulation, Transport

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000159210.9
HGNCiHGNC:17028 SNF8
MIMi610904 gene
neXtProtiNX_Q96H20

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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
ProteomicsDBi76695
76696 [Q96H20-2]

PTM databases

iPTMnetiQ96H20
PhosphoSitePlusiQ96H20

Expressioni

Gene expression databases

BgeeiENSG00000159210 Expressed in 227 organ(s), highest expression level in urinary bladder
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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi116425, 43 interactors
CORUMiQ96H20
IntActiQ96H20, 25 interactors
MINTiQ96H20
STRINGi9606.ENSP00000421380

Structurei

Secondary structure

1258
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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
OMAiQYWLPAL
OrthoDBiEOG091G0GWO
PhylomeDBiQ96H20
TreeFamiTF105950

Family and domain databases

Gene3Di1.10.10.10, 2 hits
InterProiView protein in InterPro
IPR016689 ESCRT-2_cplx_Snf8
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf
PANTHERiPTHR12806 PTHR12806, 1 hit
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

This entry has 2 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RJ86D6RJ86_HUMAN
Vacuolar-sorting protein SNF8
SNF8
141Annotation score:
D6RFY6D6RFY6_HUMAN
Vacuolar-sorting protein SNF8
SNF8
167Annotation score:
D6RBI1D6RBI1_HUMAN
Vacuolar-sorting protein SNF8
SNF8
103Annotation score:
H0Y8S5H0Y8S5_HUMAN
Vacuolar-sorting protein SNF8
SNF8
81Annotation score:
I3L457I3L457_HUMAN
Vacuolar-sorting protein SNF8
SNF8
36Annotation score:
I3L2X5I3L2X5_HUMAN
Vacuolar-sorting protein SNF8
SNF8
53Annotation score:
K7EPV2K7EPV2_HUMAN
Vacuolar-sorting protein SNF8
SNF8
16Annotation score:

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

Similar proteinsi

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, 43 interactors
CORUMiQ96H20
IntActiQ96H20, 25 interactors
MINTiQ96H20
STRINGi9606.ENSP00000421380

PTM databases

iPTMnetiQ96H20
PhosphoSitePlusiQ96H20

Polymorphism and mutation databases

BioMutaiSNF8
DMDMi73919323

Proteomic databases

EPDiQ96H20
MaxQBiQ96H20
PaxDbiQ96H20
PeptideAtlasiQ96H20
PRIDEiQ96H20
ProteomicsDBi76695
76696 [Q96H20-2]

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
EuPathDBiHostDB:ENSG00000159210.9
GeneCardsiSNF8
H-InvDBiHIX0135631
HGNCiHGNC:17028 SNF8
HPAiHPA059320
MIMi610904 gene
neXtProtiNX_Q96H20
OpenTargetsiENSG00000159210
PharmGKBiPA142670892
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

ReactomeiR-HSA-917729 Endosomal Sorting Complex Required For Transport (ESCRT)

Miscellaneous databases

ChiTaRSiSNF8 human
EvolutionaryTraceiQ96H20
GeneWikiiSNF8
GenomeRNAii11267
PROiPR:Q96H20
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000159210 Expressed in 227 organ(s), highest expression level in urinary bladder
CleanExiHS_SNF8
ExpressionAtlasiQ96H20 baseline and differential
GenevisibleiQ96H20 HS

Family and domain databases

Gene3Di1.10.10.10, 2 hits
InterProiView protein in InterPro
IPR016689 ESCRT-2_cplx_Snf8
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf
PANTHERiPTHR12806 PTHR12806, 1 hit
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 historyiIntegrated into UniProtKB/Swiss-Prot: August 30, 2005
Last sequence update: December 1, 2001
Last modified: September 12, 2018
This is version 149 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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