SNF8

SNF8
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2ZME, 3CUQ
Identifiers
Aliases	SNF8, Dot3, EAP30, VPS22, ESCRT-II complex subunit, SNF8 subunit of ESCRT-II
External IDs	OMIM: 610904 MGI: 1343161 HomoloGene: 5239 GeneCards: SNF8
Gene location (Human)
Chr.	Chromosome 17 (human)[1]
End	48,944,842 bp[1]
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)[2]
End	96,047,430 bp[2]
RNA expression pattern
	More reference expression data
Gene ontology
Molecular function	• protein homodimerization activity; • protein N-terminus binding; • transcription factor binding; • protein C-terminus binding; • channel regulator activity; • GO:0001948 protein binding;
Cellular component	• cytoplasm; • recycling endosome; • cytosol; • endosome; • membrane; • late endosome membrane; • transcription factor complex; • cell membrane; • nucleoplasm; • perinuclear region of cytoplasm; • endosome membrane; • extracellular exosome; • cell nucleus; • ESCRT II complex;
Biological process	• regulation of transcription, DNA-templated; • positive regulation of protein catabolic process; • multivesicular body sorting pathway; • regulation of transcription from RNA polymerase II promoter; • multivesicular body assembly; • regulation of multivesicular body size involved in endosome transport; • transcription, DNA-templated; • endosomal transport; • regulation of protein complex stability; • positive regulation of gene expression; • early endosome to late endosome transport; • endocytic recycling; • regulation of protein catabolic process; • protein transport; • regulation of MAP kinase activity; • positive regulation of exosomal secretion; • protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway; • macroautophagy; • regulation of molecular function; • transport;
	Sources:Amigo / QuickGO
Orthologs
	11267
	27681
	ENSG00000159210
	ENSMUSG00000006058
	Q96H20
	Q9CZ28
	NM_007241; NM_001317192; NM_001317193; NM_001317194
	NM_033568; NM_001356362
	NP_001304121; NP_001304122; NP_001304123; NP_009172
	NP_291046; NP_001343291
	Wikidata
View/Edit Human	View/Edit Mouse

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

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[8]
Citrobacter infection	Normal[9]
All tests and analysis from[10][11]

Model organisms have been used in the study of SNF8 function. A conditional knockout mouse line, called Snf8^{tm1a(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

GRCh38: Ensembl release 89: ENSG00000159210 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000006058 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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.
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.
"Entrez Gene: SNF8 SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae)".
"Salmonella infection data for Snf8". Wellcome Trust Sanger Institute.
"Citrobacter infection data for Snf8". Wellcome Trust Sanger Institute.
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.
Mouse Resources Portal, Wellcome Trust Sanger Institute.
"International Knockout Mouse Consortium".
"Mouse Genome Informatics".
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.
Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
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.
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.

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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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000159210 - Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid10419521-5] 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.

[pmid15329733-6] 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.

[entrez-7] "Entrez Gene: SNF8 SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae)".

[''Salmonella''_infection-8] "Salmonella infection data for Snf8". Wellcome Trust Sanger Institute.

[''Citrobacter''_infection-9] "Citrobacter infection data for Snf8". Wellcome Trust Sanger Institute.

[mgp_reference-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.

[11] Mouse Resources Portal, Wellcome Trust Sanger Institute.

[allele_ref-12] "International Knockout Mouse Consortium".

[mgi_allele_ref-13] "Mouse Genome Informatics".

[pmid21677750-14] 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.

[mouse_library-15] Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.

[mouse_for_all_reasons-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.

[pmid21722353-17] 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.

SNF8

Model organisms

References

Further reading