Snf8 SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Snf8provided by MGI
Official Full Name: SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae)provided by MGI
Primary source: MGI:MGI:1343161
See related: Ensembl:ENSMUSG00000006058 AllianceGenome:MGI:1343161
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: D11Moh34
Summary: Predicted to enable channel regulator activity; lipid binding activity; and protein homodimerization activity. Predicted to be involved in several processes, including endosomal transport; multivesicular body assembly; and positive regulation of macromolecule metabolic process. Predicted to act upstream of or within regulation of transcription by RNA polymerase II. Predicted to be located in several cellular components, including endosome; nucleoplasm; and perinuclear region of cytoplasm. Predicted to be part of ESCRT II complex and transcription regulator complex. Is expressed in several structures, including 1st branchial arch; central nervous system; fronto-nasal process; testis; and urinary system. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy. Orthologous to human SNF8 (SNF8 subunit of ESCRT-II). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in placenta adult (RPKM 11.4), cortex adult (RPKM 10.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 D; 11 59.24 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (95925711..95938256)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (96034885..96047430)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G38040 (e-PCR)
- UniSTS:105028

AW049199 (e-PCR)
- UniSTS:180301

NoName (e-PCR)
- UniSTS:236709

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables channel regulator activity	IEA Inferred from Electronic Annotation more info
enables channel regulator activity	ISO Inferred from Sequence Orthology more info
enables lipid binding	IEA Inferred from Electronic Annotation more info
enables lipid binding	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	IEA Inferred from Electronic Annotation more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables transcription factor binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in early endosome to late endosome transport	IEA Inferred from Electronic Annotation more info
involved_in early endosome to late endosome transport	ISO Inferred from Sequence Orthology more info
involved_in endocytic recycling	IEA Inferred from Electronic Annotation more info
involved_in endocytic recycling	ISO Inferred from Sequence Orthology more info
involved_in macroautophagy	ISS Inferred from Sequence or Structural Similarity more info
involved_in multivesicular body assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in multivesicular body sorting pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of exosomal secretion	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of exosomal secretion	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in regulation of protein complex stability	IEA Inferred from Electronic Annotation more info
involved_in regulation of protein complex stability	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of ESCRT II complex	IBA Inferred from Biological aspect of Ancestor more info
part_of ESCRT II complex	IEA Inferred from Electronic Annotation more info
part_of ESCRT II complex	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in endosome membrane	ISO Inferred from Sequence Orthology more info
located_in late endosome membrane	IEA Inferred from Electronic Annotation more info
located_in late endosome membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in recycling endosome	IEA Inferred from Electronic Annotation more info
located_in recycling endosome	ISO Inferred from Sequence Orthology more info
part_of transcription regulator complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: vacuolar-sorting protein SNF8

Names: ESCRT-II complex subunit VPS22

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001356362.1 → NP_001343291.1 vacuolar-sorting protein SNF8 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. It encodes isoform 2, which has the same N- and C-termini but lacks an internal segment and is shorter, compared to isoform 1.

Source sequence(s)

AA002581, BF715164, BY143710, BY150130, W53138

Consensus CDS

CCDS88234.1

UniProtKB/TrEMBL

A2A6M1

Related

ENSMUSP00000103328.4, ENSMUST00000107700.4

Conserved Domains (1) summary

pfam04157
Location:6 → 200

EAP30; EAP30/Vps36 family
NM_001425489.1 → NP_001412418.1 vacuolar-sorting protein SNF8 isoform 3

Status: VALIDATED

Source sequence(s)

AL603682
NM_001425490.1 → NP_001412419.1 vacuolar-sorting protein SNF8 isoform 4

Status: VALIDATED

Source sequence(s)

AL603682
NM_001425491.1 → NP_001412420.1 vacuolar-sorting protein SNF8 isoform 5

Status: VALIDATED

Source sequence(s)

AL603682
NM_033568.4 → NP_291046.1 vacuolar-sorting protein SNF8 isoform 1

See identical proteins and their annotated locations for NP_291046.1

Status: VALIDATED

Source sequence(s)

AL603682

Consensus CDS

CCDS25288.1

UniProtKB/Swiss-Prot

A2A6M2, Q9CZ28

Related

ENSMUSP00000006217.4, ENSMUST00000006217.10

Conserved Domains (1) summary

pfam04157
Location:6 → 225

EAP30; EAP30/Vps36 family