SNF8

SNF8
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesSNF8, Dot3, EAP30, VPS22, ESCRT-II complex subunit
External IDsMGI: 1343161 HomoloGene: 5239 GeneCards: SNF8
Gene location (Human)
Chr.Chromosome 17 (human)[1]
Band17q21.32Start48,929,316 bp[1]
End48,945,117 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

11267

27681

Ensembl

ENSG00000159210

ENSMUSG00000006058

UniProt

Q96H20

Q9CZ28

RefSeq (mRNA)

NM_007241
NM_001317192
NM_001317193
NM_001317194

NM_033568
NM_001356362

RefSeq (protein)

NP_001304121
NP_001304122
NP_001304123
NP_009172

NP_291046
NP_001343291

Location (UCSC)Chr 17: 48.93 – 48.95 MbChr 11: 96.03 – 96.05 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Vacuolar-sorting protein SNF8 is a protein that in humans is encoded by the SNF8 gene.[5][6][7]

Model organisms

Model organisms have been used in the study of SNF8 function. A conditional knockout mouse line, called Snf8tm1a(EUCOMM)Wtsi[12][13] 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.[14][15][16]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[10][17] Twenty five tests were carried out on mutant mice and two significant abnormalities were observed.[10] 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.[10]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000159210 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000006058 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ 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.
  6. ↑ 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.
  7. ↑ "Entrez Gene: SNF8 SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae)".
  8. ↑ "Salmonella infection data for Snf8". Wellcome Trust Sanger Institute.
  9. ↑ "Citrobacter infection data for Snf8". Wellcome Trust Sanger Institute.
  10. 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.
  11. ↑ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  12. ↑ "International Knockout Mouse Consortium".
  13. ↑ "Mouse Genome Informatics".
  14. ↑ 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.
  15. ↑ Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  16. ↑ 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.
  17. ↑ 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.


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