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

Gene ID: 27681, updated on 2-Nov-2024

Summary

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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

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data 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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Related articles in PubMed

  1. ESCRT-dependent control of craniofacial morphogenesis with concomitant perturbation of NOTCH signaling. Hermosilla Aguayo V, et al. Dev Biol, 2023 Nov. PMID 37573008
  2. Comparative mapping of distal murine chromosome 11 and human 17q21.3 in a region containing a modifying locus for murine plasma von Willebrand factor level. Mohlke KL, et al. Genomics, 1998 Nov 15. PMID 9806826
  3. An Interaction Landscape of Ubiquitin Signaling. Zhang X, et al. Mol Cell, 2017 Mar 2. PMID 28190767
  4. A genome-wide screen to identify transcription factors expressed in pelvic Ganglia of the lower urinary tract. Wiese CB, et al. Front Neurosci, 2012. PMID 22988430, Free PMC Article
  5. Mouse screen reveals multiple new genes underlying mouse and human hearing loss. Ingham NJ, et al. PLoS Biol, 2019 Apr. PMID 30973865, Free PMC Article

See all (26) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC7335

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)

  1. 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

  2. NM_001425489.1 → NP_001412418.1  vacuolar-sorting protein SNF8 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL603682

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

    Status: VALIDATED

    Source sequence(s)
    AL603682

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

    Status: VALIDATED

    Source sequence(s)
    AL603682

  5. 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

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_006533467.1 → XP_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:6 → 213
    EAP30; EAP30/Vps36 family
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9CZ28.1 GenPept UniProtKB/Swiss-Prot:Q9CZ28

Gene LinkOut

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