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

Gene ID: 27681, updated on 9-Dec-2024

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, Dec 2024]
Expression
Ubiquitous expression in placenta adult (RPKM 11.4), cortex adult (RPKM 10.7) and 28 other tissues See more
Orthologs
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Genomic context

See Snf8 in Genome Data Viewer
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_000077.7Genomic Context describing neighboring genes Neighboring gene gastric inhibitory polypeptide Neighboring gene predicted gene, 24949 Neighboring gene ubiquitin-conjugating enzyme E2Z Neighboring gene STARR-seq mESC enhancer starr_30532 Neighboring gene ATP synthase membrane subunit c locus 1

Genomic regions, transcripts, and products

Expression

  • 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

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (1) 

Pathways from PubChem

Interactions

General gene information

Clone Names

  • MGC7335

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables channel regulator activity  
enables channel regulator activity  
enables lipid binding  
enables lipid binding  
enables protein homodimerization activity  
enables protein homodimerization activity  
enables transcription factor binding  
Process Evidence Code Pubs
involved_in early endosome to late endosome transport  
involved_in early endosome to late endosome transport  
involved_in endocytic recycling  
involved_in endocytic recycling  
involved_in macroautophagy  
involved_in multivesicular body assembly  
involved_in multivesicular body sorting pathway  
involved_in positive regulation of exosomal secretion  
involved_in positive regulation of exosomal secretion  
involved_in positive regulation of gene expression  
involved_in positive regulation of gene expression  
involved_in positive regulation of protein catabolic process  
involved_in positive regulation of protein catabolic process  
involved_in protein transport  
involved_in protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway  
involved_in regulation of protein catabolic process  
involved_in regulation of protein complex stability  
involved_in regulation of protein complex stability  
acts_upstream_of_or_within regulation of transcription by RNA polymerase II  
Component Evidence Code Pubs
part_of ESCRT II complex  
part_of ESCRT II complex  
part_of ESCRT II complex  
located_in cytoplasm  
located_in cytosol  
located_in cytosol  
located_in endosome membrane  
located_in late endosome membrane  
located_in late endosome membrane  
located_in membrane  
located_in nucleoplasm  
located_in nucleoplasm  
located_in nucleus  
located_in perinuclear region of cytoplasm  
located_in perinuclear region of cytoplasm  
located_in plasma membrane  
located_in plasma membrane  
located_in recycling endosome  
located_in recycling endosome  
part_of transcription regulator complex  

General protein information

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)

  1. NM_001356362.1NP_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:6200
    EAP30; EAP30/Vps36 family
  2. NM_001425489.1NP_001412418.1  vacuolar-sorting protein SNF8 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL603682
  3. NM_001425490.1NP_001412419.1  vacuolar-sorting protein SNF8 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AL603682
  4. NM_001425491.1NP_001412420.1  vacuolar-sorting protein SNF8 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AL603682
  5. NM_033568.4NP_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:6225
    EAP30; EAP30/Vps36 family

RNA

  1. NR_189310.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL603682
  2. NR_189311.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL603682
  3. NR_189312.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL603682
  4. NR_189313.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL603682

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    95925711..95938256
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006533467.1XP_006533530.1  vacuolar-sorting protein SNF8 isoform X1

    See identical proteins and their annotated locations for XP_006533530.1

    Conserved Domains (1) summary
    pfam04157
    Location:6213
    EAP30; EAP30/Vps36 family
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