Human Gene SNF8 (uc002ioj.3)
  Description: Homo sapiens SNF8, ESCRT-II complex subunit (SNF8), mRNA.
RefSeq Summary (NM_007241): 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].
Transcript (Including UTRs)
   Position: hg19 chr17:47,007,459-47,022,154 Size: 14,696 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr17:47,007,837-47,022,096 Size: 14,260 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:47,007,459-47,022,154)mRNA (may differ from genome)Protein (258 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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H-INVHGNCHPRDLynxMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SNF8_HUMAN
DESCRIPTION: RecName: Full=Vacuolar-sorting protein SNF8; AltName: Full=ELL-associated protein of 30 kDa; AltName: Full=ESCRT-II complex subunit VPS22; Short=hVps22;
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. 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.
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.
SUBCELLULAR LOCATION: Cytoplasm. Endosome membrane. Nucleus (Probable). Late endosome membrane. Note=Recruited to the endosome membrane to participate in vesicle formation.
SIMILARITY: Belongs to the SNF8 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): SNF8
CDC HuGE Published Literature: SNF8
Positive Disease Associations: Neuroblastoma
Related Studies:
  1. Neuroblastoma
    , , . [PubMed 0]

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 19.81 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 755.21 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -30.4058-0.524 Picture PostScript Text
3' UTR -95.10378-0.252 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007286 - EAP30
IPR016689 - ESCRT-2_cplx_Snf8

Pfam Domains:
PF04157 - EAP30/Vps36 family

SCOP Domains:
46785 - "Winged helix" DNA-binding domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2ZME - X-ray MuPIT 3CUQ - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q96H20
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details  Gene DetailsGene Details
Gene SorterGene Sorter  Gene SorterGene Sorter
 RGDEnsembl WormBaseSGD
 Protein SequenceProtein Sequence Protein SequenceProtein Sequence
 AlignmentAlignment AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008022 protein C-terminus binding
GO:0008134 transcription factor binding
GO:0016247 channel regulator activity
GO:0042803 protein homodimerization activity
GO:0047485 protein N-terminus binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0010628 positive regulation of gene expression
GO:0010797 regulation of multivesicular body size involved in endosome transport
GO:0015031 protein transport
GO:0016197 endosomal transport
GO:0016236 macroautophagy
GO:0032456 endocytic recycling
GO:0036258 multivesicular body assembly
GO:0042176 regulation of protein catabolic process
GO:0043328 protein targeting to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway
GO:0045022 early endosome to late endosome transport
GO:0045732 positive regulation of protein catabolic process
GO:0061635 regulation of protein complex stability
GO:0071985 multivesicular body sorting pathway
GO:1903543 positive regulation of exosomal secretion
GO:1903772 regulation of viral budding via host ESCRT complex
GO:0043405 regulation of MAP kinase activity

Cellular Component:
GO:0000814 ESCRT II complex
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005667 transcription factor complex
GO:0005737 cytoplasm
GO:0005768 endosome
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0010008 endosome membrane
GO:0016020 membrane
GO:0031902 late endosome membrane
GO:0048471 perinuclear region of cytoplasm
GO:0055037 recycling endosome
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  LF209280 - JP 2014500723-A/16783: Polycomb-Associated Non-Coding RNAs.
BC008976 - Homo sapiens SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae), mRNA (cDNA clone MGC:9336 IMAGE:3452153), complete cds.
JD241343 - Sequence 222367 from Patent EP1572962.
JD315003 - Sequence 296027 from Patent EP1572962.
BC038830 - Homo sapiens SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae), mRNA (cDNA clone MGC:47686 IMAGE:3900806), complete cds.
AF156102 - Homo sapiens ELL complex EAP30 subunit mRNA, complete cds.
AK123127 - Homo sapiens cDNA FLJ41132 fis, clone BRACE2025018.
JD446730 - Sequence 427754 from Patent EP1572962.
JD469147 - Sequence 450171 from Patent EP1572962.
CU679209 - Synthetic construct Homo sapiens gateway clone IMAGE:100018633 5' read SNF8 mRNA.
HQ447340 - Synthetic construct Homo sapiens clone IMAGE:100070660; CCSB002778_04 SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae) (SNF8) gene, encodes complete protein.
KJ898396 - Synthetic construct Homo sapiens clone ccsbBroadEn_07790 SNF8 gene, encodes complete protein.
KJ902223 - Synthetic construct Homo sapiens clone ccsbBroadEn_11617 SNF8 gene, encodes complete protein.
AB464229 - Synthetic construct DNA, clone: pF1KB7542, Homo sapiens SNF8 gene for SNF8, ESCRT-II complex subunit, homolog, without stop codon, in Flexi system.
CU691602 - Synthetic construct Homo sapiens gateway clone IMAGE:100016906 5' read SNF8 mRNA.
MA444857 - JP 2018138019-A/16783: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04144 - Endocytosis

Reactome (by CSHL, EBI, and GO)

Protein Q96H20 (Reactome details) participates in the following event(s):

R-HSA-917696 Cargo Sequestration
R-HSA-917700 MVB Vesicle Formation
R-HSA-917729 Endosomal Sorting Complex Required For Transport (ESCRT)
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: EAP30, NM_007241, NP_009172, Q8IXY3, Q96H20, Q9UN50, SNF8_HUMAN
UCSC ID: uc002ioj.3
RefSeq Accession: NM_007241
Protein: Q96H20 (aka SNF8_HUMAN)
CCDS: CCDS11541.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_007241.2
exon count: 8CDS single in 3' UTR: no RNA size: 1226
ORF size: 777CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1681.00frame shift in genome: no % Coverage: 98.94
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.