SNF8

SNF8, ESCRT-II complex subunit
Rendering based on PDB 2ZME​.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 2ZME​, 3CUQ​
Identifiers
Symbols	SNF8 ; Dot3; EAP30; VPS22
External IDs	OMIM: 610904 MGI: 1343161 HomoloGene: 5239 GeneCards: SNF8 Gene
Gene ontology Molecular function • protein binding • protein C-terminus binding • transcription factor binding • channel regulator activity • protein homodimerization activity • protein N-terminus binding Cellular component • ESCRT II complex • nucleus • nucleoplasm • transcription factor complex • cytoplasm • cytosol • plasma membrane • endosome membrane • membrane • late endosome membrane • perinuclear region of cytoplasm • recycling endosome • extracellular exosome Biological process • transcription, DNA-templated • regulation of transcription from RNA polymerase II promoter • positive regulation of gene expression • regulation of multivesicular body size involved in endosome transport • endosomal transport • endocytic recycling • regulation of protein catabolic process • protein targeting to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway • regulation of MAP kinase activity • early endosome to late endosome transport • positive regulation of protein catabolic process • membrane organization • regulation of protein complex stability • positive regulation of exosomal secretion • regulation of viral budding via host ESCRT complex Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	11267	27681
Ensembl	ENSG00000159210	ENSMUSG00000006058
UniProt	Q96H20	Q9CZ28
RefSeq (mRNA)	NM_007241	NM_033568
RefSeq (protein)	NP_009172	NP_291046
Location (UCSC)	Chr 17: 48.93 – 48.95 Mb	Chr 11: 96.03 – 96.05 Mb
PubMed search

Vacuolar-sorting protein SNF8 is a protein that in humans is encoded by the SNF8 gene.^[1][2][3]

Model organisms

Snf8 knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Abnormal
Recessive lethal study	Abnormal
Fertility	Normal
Body weight	Normal
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Plasma immunoglobulins	Normal
Haematology	Normal
Peripheral blood lymphocytes	Normal
Micronucleus test	Normal
Heart weight	Normal
Brain histopathology	Normal
Salmonella infection	Normal[4]
Citrobacter infection	Normal[5]
All tests and analysis from[6][7]

Model organisms have been used in the study of SNF8 function. A conditional knockout mouse line, called Snf8^{tm1a(EUCOMM)Wtsi[8][9]} was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.^[10][11][12]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.^[6][13] Twenty five tests were carried out on mutant mice and two significant abnormalities were observed.^[6] No homozygous mutant embryos were identified during gestation, and therefore none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice; no additional significant abnormalities were observed in these animals.^[6]

References

1. Schmidt AE, Miller T, Schmidt SL, Shiekhattar R, Shilatifard A (Aug 1999). "Cloning and characterization of the EAP30 subunit of the ELL complex that confers derepression of transcription by RNA polymerase II". J Biol Chem 274 (31): 21981–5. doi:10.1074/jbc.274.31.21981. PMID 10419521.
2. Hierro A, Sun J, Rusnak AS, Kim J, Prag G, Emr SD, Hurley JH (Sep 2004). "Structure of the ESCRT-II endosomal trafficking complex". Nature 431 (7005): 221–5. doi:10.1038/nature02914. PMID 15329733.
3. "Entrez Gene: SNF8 SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae)".
4. "Salmonella infection data for Snf8". Wellcome Trust Sanger Institute.
5. "Citrobacter infection data for Snf8". Wellcome Trust Sanger Institute.
6. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x.
7. Mouse Resources Portal, Wellcome Trust Sanger Institute.
8. "International Knockout Mouse Consortium".
9. "Mouse Genome Informatics".
10. Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
11. Dolgin E (2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
12. Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
13. van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism.". Genome Biol 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.

Further reading

• Kamura T, Burian D, Khalili H, et al. (2001). "Cloning and characterization of ELL-associated proteins EAP45 and EAP20. a role for yeast EAP-like proteins in regulation of gene expression by glucose.". J. Biol. Chem. 276 (19): 16528–33. doi:10.1074/jbc.M010142200. PMID 11278625.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• von Schwedler UK, Stuchell M, Müller B, et al. (2003). "The protein network of HIV budding.". Cell 114 (6): 701–13. doi:10.1016/S0092-8674(03)00714-1. PMID 14505570.
• Martin-Serrano J, Yarovoy A, Perez-Caballero D, et al. (2003). "Divergent retroviral late-budding domains recruit vacuolar protein sorting factors by using alternative adaptor proteins.". Proc. Natl. Acad. Sci. U.S.A. 100 (21): 12414–9. doi:10.1073/pnas.2133846100. PMC 218772. PMID 14519844.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network.". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
• Bowers K, Piper SC, Edeling MA, et al. (2006). "Degradation of endocytosed epidermal growth factor and virally ubiquitinated major histocompatibility complex class I is independent of mammalian ESCRTII.". J. Biol. Chem. 281 (8): 5094–105. doi:10.1074/jbc.M508632200. PMID 16371348.
• Langelier C, von Schwedler UK, Fisher RD, et al. (2006). "Human ESCRT-II complex and its role in human immunodeficiency virus type 1 release.". J. Virol. 80 (19): 9465–80. doi:10.1128/JVI.01049-06. PMC 1617254. PMID 16973552.