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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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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