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
External IDs	MGI: 1343161 HomoloGene: 5239 GeneCards: SNF8
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 factor 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 from RNA polymerase II promoter • multivesicular body assembly • regulation of multivesicular body size involved in endosome transport • transcription, DNA-templated • autophagy • endosomal transport • regulation of protein complex stability • regulation of viral budding via host ESCRT complex • positive regulation of gene expression • early endosome to late endosome transport • transport • endocytic recycling • regulation of protein catabolic process • protein transport • regulation of MAP kinase activity • positive regulation of exosomal secretion • protein targeting to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway Sources:Amigo / QuickGO
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_001317192 NM_001317193 NM_001317194	NM_033568
RefSeq (protein)	NP_009172.2 NP_001304121.1 NP_001304122.1 NP_001304123.1	NP_291046.1
Location (UCSC)	Chr 17: 48.93 – 48.95 Mb	Chr 11: 96.03 – 96.05 Mb
PubMed search	[1]	[2]
Wikidata

Vacuolar-sorting protein SNF8 is a protein that in humans is encoded by the SNF8 gene.^[3][4][5]

Model organisms

Model organisms have been used in the study of SNF8 function. A conditional knockout mouse line, called Snf8^{tm1a(EUCOMM)Wtsi[10][11]} 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.^[12][13][14]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.^[8][15] Twenty five tests were carried out on mutant mice and two significant abnormalities were observed.^[8] 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.^[8]

References

Further reading