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    CHMP6 charged multivesicular body protein 6 [ Homo sapiens (human) ]

    Gene ID: 79643, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CHMP6provided by HGNC
    Official Full Name
    charged multivesicular body protein 6provided by HGNC
    Primary source
    HGNC:HGNC:25675
    See related
    Ensembl:ENSG00000176108 MIM:610901; AllianceGenome:HGNC:25675
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    VPS20
    Summary
    This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein family. Proteins in this family are part of the ESCRT-III (endosomal sorting complex required for transport III) which degrades surface receptors, and in biosynthesis of endosomes. [provided by RefSeq, Mar 2012]
    Expression
    Ubiquitous expression in kidney (RPKM 3.0), colon (RPKM 3.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CHMP6 in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (80991841..81000133)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (81898759..81907012)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (78965641..78973933)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene regulatory associated protein of MTOR complex 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78943614-78944419 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78944420-78945224 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9111 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:78955555-78956054 Neighboring gene uncharacterized LOC400627 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12952 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9113 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9114 Neighboring gene ribosomal protein L12 pseudogene 37 Neighboring gene translation initiation factor IF-2-like Neighboring gene uncharacterized LOC124904078

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Overexpression of CHMP6 induces cellular oncosis and apoptosis in HeLa cells. Fu D, et al. Biosci Biotechnol Biochem, 2009 Mar 23. PMID 19270365
    2. ELK4 targets CHMP6 to inhibit ferroptosis and enhance malignant properties of skin cutaneous melanoma cells. Li H, et al. Arch Dermatol Res, 2024 Sep 21. PMID 39305302
    3. Inhibition of ESCRT-II-CHMP6 interactions impedes cytokinetic abscission and leads to cell death. Goliand I, et al. Mol Biol Cell, 2014 Nov 15. PMID 25232011, Free PMC Article
    4. Structure and function of the ESCRT-II-III interface in multivesicular body biogenesis. Im YJ, et al. Dev Cell, 2009 Aug. PMID 19686684, Free PMC Article
    5. Avian sarcoma virus and human immunodeficiency virus, type 1 use different subsets of ESCRT proteins to facilitate the budding process. Pincetic A, et al. J Biol Chem, 2008 Oct 31. PMID 18723511, Free PMC Article

    See all (63) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ELK4 targets CHMP6 to inhibit ferroptosis and enhance malignant properties of skin cutaneous melanoma cells.
      Title: ELK4 targets CHMP6 to inhibit ferroptosis and enhance malignant properties of skin cutaneous melanoma cells.
    2. Taken together, these data suggest an active role for ESCRT-II and CHMP6 in ESCRT-mediated abscission
      Title: Inhibition of ESCRT-II-CHMP6 interactions impedes cytokinetic abscission and leads to cell death.
    3. Purified VPS-20 exhibits an open extended conformation, irrespective of ESCRT-II binding.
      Title: The VPS-20 subunit of the endosomal sorting complex ESCRT-III exhibits an open conformation in the absence of upstream activation.
    4. silencing CHMP6 and VPS4A also blocked epidermal growth factor receptor (EGFR) recycling
      Title: CHMP6 and VPS4A mediate the recycling of Ras to the plasma membrane to promote growth factor signaling.
    5. Results describe the mapping of multivesicular bodies with the second winged helix domain of human ESCRT-II subunit VPS25 and the first helix of ESCRT-III subunit VPS20.
      Title: Structure and function of the ESCRT-II-III interface in multivesicular body biogenesis.
    6. In this study, we found that overexpression of chromatin modifying protein 6 (CHMP6) induced cell death by a series of experiments.
      Title: Overexpression of CHMP6 induces cellular oncosis and apoptosis in HeLa cells.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag A fragment (amino acids 1-167) of CHMP6 is a potent dominant negative inhibitor of HIV-1 Gag release from cells PubMed
    gag Budding of HIV-1 Gag with a PTAP point mutation is rescued by fusion to an ESCRT-III protein, CHMP6 PubMed

    Go to the HIV-1, Human Interaction Database

    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

    • FLJ11749

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-containing complex binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in ESCRT III complex assembly NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in autophagosome maturation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in autophagy IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in late endosome to lysosome transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in late endosome to vacuole transport via multivesicular body sorting pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in macroautophagy TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in membrane fission NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in midbody abscission IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitotic metaphase chromosome alignment IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in multivesicular body assembly NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in multivesicular body assembly TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in multivesicular body sorting pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in multivesicular body-lysosome fusion NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of epidermal growth factor-activated receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in nuclear membrane reassembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in nucleus organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in plasma membrane repair IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    NOT involved_in regulation of exosomal secretion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of mitotic spindle assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in vesicle budding from membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in vesicle fusion with vacuole NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in viral budding from plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in viral budding via host ESCRT complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of ESCRT III complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of ESCRT III complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of ESCRT III complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of ESCRT III complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in amphisome membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in autophagosome membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in endosome membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in kinetochore IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in kinetochore microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane HDA PubMed 
    located_in midbody IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in multivesicular body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in multivesicular body membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of nuclear pore IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    charged multivesicular body protein 6
    Names
    chromatin-modifying protein 6
    hVps20
    vacuolar protein sorting-associated protein 20

    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_024591.5 → NP_078867.2  charged multivesicular body protein 6

      See identical proteins and their annotated locations for NP_078867.2

      Status: VALIDATED

      Source sequence(s)
      AK223187, AK292105, BP196406
      Consensus CDS
      CCDS11774.1
      UniProtKB/Swiss-Prot
      A8K7U0, Q53FU4, Q96FZ7, Q9HAE8
      Related
      ENSP00000317468.5, ENST00000325167.9
      Conserved Domains (1) summary
      pfam03357
      Location:18 → 177
      Snf7

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      80991841..81000133
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005257668.1 → XP_005257725.1  charged multivesicular body protein 6 isoform X1

      UniProtKB/TrEMBL
      I3L4A1
      Related
      ENSP00000461098.1, ENST00000572778.5
      Conserved Domains (1) summary
      pfam03357
      Location:18 → 177
      Snf7; Snf7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      81898759..81907012
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317208.1 → XP_054173183.1  charged multivesicular body protein 6 isoform X1

      UniProtKB/TrEMBL
      I3L4A1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96FZ7.3 GenPept UniProtKB/Swiss-Prot:Q96FZ7

    Gene LinkOut

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

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