SNF8 - SNF8 subunit of ESCRT-II Gene

Homo sapiens

Also known as Dot3; EAP30; VPS22

Gene ID: 11267 | Gene type: protein coding

About SNF8

Cytogenetic location: 17q21.32 Genomic coordinates (GRCh38): 17:48,929,316-48,944,842 (from NCBI)

This gene has 17 transcripts (splice variants) and 209 orthologues. Ubiquitous expression in kidney (RPKM 18.5), fat (RPKM 18.4) and 25 other tissues.

Summary

The protein encoded by this gene is a component of the endosomal sorting complex required for transport II (ESCRT-II), which regulates the movement of ubiquitinylated transmembrane proteins to the lysosome for degradation. This complex also interacts with the RNA polymerase II elongation factor (ELL) to overcome the repressive effects of ELL on RNA polymerase II activity. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]

SNF8 Products(4)

mRNA	Protein	Name
NM_001317192.2	NP_001304121.1	vacuolar-sorting protein SNF8 isoform 2
NM_001317193.2	NP_001304122.1	vacuolar-sorting protein SNF8 isoform 3
NM_001317194.2	NP_001304123.1	vacuolar-sorting protein SNF8 isoform 4
NM_007241.4	NP_009172.2	vacuolar-sorting protein SNF8 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables channel regulator activity	IDA IDA: Inferred from direct assay	23171048	GOA
enables lipid binding	IPI IPI: Inferred from physical interaction	18539118	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	14505570	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	14505570	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in early endosome to late endosome transport	IMP IMP: Inferred from mutant phenotype	17714434	GOA
involved in endocytic recycling	IMP IMP: Inferred from mutant phenotype	17714434	GOA
involved in macroautophagy	IMP IMP: Inferred from mutant phenotype	38423010	GOA
involved in multivesicular body assembly	IMP IMP: Inferred from mutant phenotype	38423010	GOA
involved in multivesicular body sorting pathway	IMP IMP: Inferred from mutant phenotype	38423010	GOA
involved in positive regulation of exosomal secretion	IMP IMP: Inferred from mutant phenotype	22660413	GOA
involved in positive regulation of gene expression	IMP IMP: Inferred from mutant phenotype	22978549	GOA
involved in positive regulation of protein catabolic process	IMP IMP: Inferred from mutant phenotype	17959629	GOA
NOT involved in regulation of MAP kinase activity	IMP IMP: Inferred from mutant phenotype	17714434	GOA
involved in regulation of protein catabolic process	IMP IMP: Inferred from mutant phenotype	17714434	GOA
involved in regulation of protein complex stability	IMP IMP: Inferred from mutant phenotype	17714434	GOA
acts upstream of or within regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	10419521	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of ESCRT II complex	IDA IDA: Inferred from direct assay	16973552	GOA
part of ESCRT II complex	IPI IPI: Inferred from physical interaction	18539118	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	22978549	GOA
located in cytosol	IDA IDA: Inferred from direct assay	17010938	GOA
located in endosome membrane	IDA IDA: Inferred from direct assay	16973552	GOA
located in late endosome membrane	IDA IDA: Inferred from direct assay	17010938	GOA
located in membrane	IDA IDA: Inferred from direct assay	23171048	GOA
located in nucleus	IDA IDA: Inferred from direct assay	23171048	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	17714434	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	22978549	GOA
located in recycling endosome	IDA IDA: Inferred from direct assay	17714434	GOA
part of transcription regulator complex	IDA IDA: Inferred from direct assay	10419521	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SNF8 Protein Structure

EAP30

0
100
200
258 a.a.

Protein Preferred Names

Protein Names

vacuolar-sorting protein SNF8

EAP30 subunit of ELL complex

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13490	SNF8 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SNF8	RGD	RGD:1310144
Felis catus	SNF8	VGNC	VGNC:99457
Macaca mulatta	SNF8	VGNC	VGNC:77729
Mus musculus	SNF8	MGD	MGI:1343161
Canis familiaris	SNF8	VGNC	VGNC:46601
Bos taurus	SNF8	VGNC	VGNC:35064

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