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] Band 17q21.32 Start 48,929,316 bp [1] End 48,944,842 bp [1]
Gene location (Mouse) Chr. Chromosome 11 (mouse) [2] Band 11 D|11 59.24 cM Start 95,925,711 bp [2] End 95,938,256 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastric mucosa stromal cell of endometrium left coronary artery ganglionic eminence Right adrenal gland popliteal artery body of stomach Left adrenal gland monocyte ascending aorta Top expressed in yolk sac morula blastocyst superior frontal gyrus facial motor nucleus duodenum lip thymus anterior horn of spinal cord jejunum More reference expression data BioGPS 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 protein binding Cellular component cytoplasm recycling endosome cytosol endosome membrane late endosome membrane transcription regulator complex plasma membrane nucleoplasm perinuclear region of cytoplasm endosome membrane extracellular exosome nucleus ESCRT II complex Biological process regulation of transcription, DNA-templated positive regulation of protein catabolic process multivesicular body sorting pathway regulation of transcription by RNA polymerase II 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 Species Human Mouse 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 Mb Chr 11: 95.93 – 95.94 Mb PubMed search [3] [4]
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

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. Bibcode:2004Natur.431..221H. 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

• 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. Bibcode:2002PNAS...9916899M. 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. S2CID   16894972.
• 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. Bibcode:2003PNAS..10012414M. 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. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.
• 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.