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    CHMP4C charged multivesicular body protein 4C [ Homo sapiens ]

    Gene ID: 92421, updated on 11-May-2012
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    Summary

    Official Symbol
    CHMP4Cprovided by HGNC
    Official Full Name
    charged multivesicular body protein 4Cprovided by HGNC
    Primary source
    HGNC:30599
    See related
    Ensembl:ENSG00000164695; HPRD:18135; MIM:610899; Vega:OTTHUMG00000164726
    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
    Shax3; SNF7-3; VPS32C; MGC22825
    Summary
    CHMP4C belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]
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    Genomic context

    Location :
    8q21.13
    Sequence :
    Chromosome: 8; NC_000008.10 (82644688..82671750)
    See CHMP4C in Epigenomics, MapViewer

    Chromosome 8 - NC_000008.10Genomic Context describing neighboring genes Neighboring gene solute carrier family 10 (sodium/bile acid cotransporter family), member 5 Neighboring gene zinc finger, AN1-type domain 1 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene Neighboring gene sorting nexin 16 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 4

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. ALIX-CHMP4 interactions in the human ESCRT pathway. McCullough J, et al. Proc Natl Acad Sci U S A, 2008 Jun 3. PMID 18511562.
    2. The MIT domain of UBPY constitutes a CHMP binding and endosomal localization signal required for efficient epidermal growth factor receptor degradation. Row PE, et al. J Biol Chem, 2007 Oct 19. PMID 17711858.
    3. A systematic analysis of human CHMP protein interactions: additional MIT domain-containing proteins bind to multiple components of the human ESCRT III complex. Tsang HT, et al. Genomics, 2006 Sep. PMID 16730941.
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334.
    5. CHMP4b is a major binding partner of the ALG-2-interacting protein Alix among the three CHMP4 isoforms. Katoh K, et al. Arch Biochem Biophys, 2004 Jan 1. PMID 14678797.

    See all (12) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. The Bro1 domain of ALIX binds specifically to C-terminal residues of the human CHMP4C.
      Title: ALIX-CHMP4 interactions in the human ESCRT pathway.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    HIV-1 protein interactions

    Protein Gene Interaction Pubs
    p6 gag Overexpression of CHMP4A, CHMP4B or CHMP4C inhibits HIV-1 p6-Gag L-domain function and HIV-1 budding PubMed
    gag HIV-1 p6-Gag interacts with CHMP4A, CHMP4B and CHMP4C proteins through a direct binding interaction with AIP1, a component of the viral budding machinery PubMed

    Go to the HIV-1, Human Protein Interaction Database

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_689497.1 NP_037506.2 PDCD6IP    BIND  PubMed CHMP4C interacts with Alix. 
    Q96CF2 Q6P1N0 CC2D1A    HPRD  PubMed  
    Q96CF2 Q9BY43 CHMP4A    HPRD  PubMed  
    Q96CF2 Q9H444 CHMP4B    HPRD  PubMed  
    Q96CF2 Q96CF2 CHMP4C    HPRD  PubMed  
    Q96CF2 Q8WUM4 PDCD6IP    HPRD  PubMed  
    Q96CF2 Q8TEL6 TRPC4AP    HPRD  PubMed  
    Q96CF2 Q9UN37 VPS4A    HPRD  PubMed  
    BioGRID:124946 BioGRID:115863 STAMBP    BioGRID  PubMed Reconstituted Complex 
    BioGRID:124946 BioGRID:114555 USP8    BioGRID  PubMed Reconstituted Complex 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • ESCRT-III complex, organism-specific biosystem (from KEGG)
      ESCRT-III complex, organism-specific biosystemStructural complex; Genetic information processing; Protein processing
    • Endocytosis, organism-specific biosystem (from KEGG)
      Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Endocytosis, conserved biosystem (from KEGG)
      Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Endosomal Sorting Complex Required For Transport (ESCRT), organism-specific biosystem (from REACTOME)
      Endosomal Sorting Complex Required For Transport (ESCRT), organism-specific biosystemMany plasma membrane proteins are in a constant flux throughout the internal trafficking pathways of the cell. Some receptors are continuously internalized into recycling endosomes and returned to th...
    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    cellular membrane organization TAS
    Traceable Author Statement
    more info
    		  
    endosome transport TAS
    Traceable Author Statement
    more info
    		  
    protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    late endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    charged multivesicular body protein 4c
    Names
    charged multivesicular body protein 4c
    hSnf7-3
    vps32-3
    hVps32-3
    chromatin modifying protein 4C
    chromatin-modifying protein 4c
    SNF7 homolog associated with Alix 3
    Snf7 homologue associated with Alix 3
    vacuolar protein sorting-associated protein 32-3
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    NCBI Reference Sequences (RefSeq)

    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_152284.3 → NP_689497.1  charged multivesicular body protein 4c

      Status: VALIDATED

      Source sequence(s)
      AC132219, BC014321
      Consensus CDS
      CCDS6233.1
      UniProtKB/Swiss-Prot
      Q96CF2
      Related
      ENSP00000297265, OTTHUMP00000227312, ENST00000297265, OTTHUMT00000379927
      Conserved Domains (1) summary
      cl02305
      Location:24 – 193
      Blast Score: 276
      Snf7; Snf7

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000008.10 Reference GRCh37.p5 Primary Assembly

      Range
      82644688..82671750
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000140.1 Alternate HuRef

      Range
      78134628..78161684
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC132219.3 (41789..68852) None
    genomic CH471068.1 EAW87107.1
    mRNA AB120734.1 BAC87888.1
    mRNA AK000049.1 None
    mRNA AK314873.1 BAG37388.1
    mRNA AY329086.1 AAQ91195.1
    mRNA BC014321.1 AAH14321.1
    mRNA BQ778244.1 None
    mRNA BX492886.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96CF2.1 GenPept UniProtKB/Swiss-Prot:Q96CF2
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    Additional Links

    Gene LinkOut

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

    Chemical Information
    Medical
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