SNF8

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

SNF8
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesSNF8, Dot3, EAP30, VPS22, ESCRT-II complex subunit, SNF8 subunit of ESCRT-II
External IDsOMIM: 610904 MGI: 1343161 HomoloGene: 5239 GeneCards: SNF8
Gene location (Human)
Chr.Chromosome 17 (human)[1]
Band17q21.32Start48,929,316 bp[1]
End48,944,842 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 – 48.94 MbChr 11: 96.03 – 96.05 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse


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. GRCh38: Ensembl release 89: ENSG00000159210 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000006058 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  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. S2CID 4332050.
  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. 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. S2CID 85911512.
  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. S2CID 18872015.
  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


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