SNF8

SNF8, ESCRT-II complex subunit

Rendering based on PDB 2ZME.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols SNF8 ; Dot3; EAP30; VPS22
External IDs OMIM: 610904 MGI: 1343161 HomoloGene: 5239 GeneCards: SNF8 Gene
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

Model organisms have been used in the study of SNF8 function. A conditional knockout mouse line, called Snf8tm1a(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. 1 2 3 4 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

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