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    CHMP4B charged multivesicular body protein 4B [ Homo sapiens (human) ]

    Gene ID: 128866, updated on 1-Mar-2024

    Summary

    Official Symbol
    CHMP4Bprovided by HGNC
    Official Full Name
    charged multivesicular body protein 4Bprovided by HGNC
    Primary source
    HGNC:HGNC:16171
    See related
    Ensembl:ENSG00000101421 MIM:610897; AllianceGenome:HGNC:16171
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SNF7; CTPP3; Shax1; CHMP4A; SNF7-2; VPS32B; CTRCT31; Vps32-2; C20orf178; dJ553F4.4
    Summary
    This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein (CHMP) protein family. The protein is part of the endosomal sorting complex required for transport (ESCRT) complex III (ESCRT-III), which functions in the sorting of endocytosed cell-surface receptors into multivesicular endosomes. The ESCRT machinery also functions in the final abscisson stage of cytokinesis and in the budding of enveloped viruses such as HIV-1. The three proteins of the CHMP4 subfamily interact with programmed cell death 6 interacting protein (PDCD6IP, also known as ALIX), which also functions in the ESCRT pathway. The CHMP4 proteins assemble into membrane-attached 5-nm filaments that form circular scaffolds and promote or stabilize outward budding. These polymers are proposed to help generate the luminal vesicles of multivesicular bodies. Mutations in this gene result in autosomal dominant posterior polar cataracts.[provided by RefSeq, Oct 2009]
    Expression
    Ubiquitous expression in colon (RPKM 76.6), bone marrow (RPKM 71.5) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See CHMP4B in Genome Data Viewer
    Location:
    20q11.22
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (33811348..33854366)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (35537705..35580724)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (32399154..32442172)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene zinc finger protein 341 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:32349191-32349692 Neighboring gene ribosomal protein L31 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17745 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12822 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17746 Neighboring gene Sharpr-MPRA regulatory region 4652 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12823 Neighboring gene Sharpr-MPRA regulatory region 14745 Neighboring gene ZNF341 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 12013 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:32399709-32400549 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12825 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17749 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:32441073-32441573 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12826 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:32450578-32450741 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17750 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:32458568-32459068 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17751 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17752 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:32495633-32496134 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:32507904-32508103 Neighboring gene tropomyosin 3 pseudogene 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:32521004-32521504 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class P pseudogene 3

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Cataract 31 multiple types
    MedGen: C1854311 OMIM: 605387 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    HIV-1 incorporates VPS4A and CHMP4b into virions PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag Superresolution imaging of HIV-1 Gag and ESCRT proteins (TSG101, ALIX, CHMP4B, and CHMP4C) demonstrates in HeLa cells that Gag assemblages often has ESCRT proteins in their direct vicinity PubMed
    gag Three-dimensional superresolution microscopy and correlative electron microscopy demonstrate that the ESCRT proteins TSG101, CHMP2A, and CHMP4B co-cluster with membrane-localized HIV-1 Gag at assembly sites PubMed
    gag CHMP4B and VPS4A are recruited to the site of HIV-1 Gag assembly, in which VPS4A remains associated with the Gag assembly site twice longer than CHMP4B PubMed
    gag Interaction of HIV-1 Gag with chromatin modifying protein 4B (CHMP4B) is identified in a series of six affinity purification/mass spectrometry screens PubMed
    gag ALIX, CHMP2A/B, CHMP4A/B, and VPS4A/B proteins are required for the budding of HIV-1 Gag and the HIV-1 infectivity PubMed
    gag Released Gag VLPs contain TSG101 and CHMP4B, but reduced levels of CHMP2A relative to CHMP4B PubMed
    gag VPS4A increases co-localization of HIV-1 Gag with the ESCRT proteins Chmp1b, Chmp4b, and Chmp4c at sites of HIV-1 assembly PubMed
    gag Recruitment of CHMP4B by ALIX to HIV-1 Gag puncta is observed in in-vitro membrane model PubMed
    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 Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cadherin binding HDA PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    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 autophagy TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in exit from mitosis 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 maintenance of lens transparency IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in membrane fission IMP
    Inferred from Mutant Phenotype
    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 cytokinesis 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 sorting pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in multivesicular body-lysosome fusion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in nervous system process 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 post-translational protein targeting to endoplasmic reticulum membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein polymerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of autophagy IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of centrosome duplication 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 ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway IMP
    Inferred from Mutant Phenotype
    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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in viral budding from plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in viral budding from plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in viral budding via host ESCRT complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in viral budding via host ESCRT complex IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in viral budding via host ESCRT complex TAS
    Traceable Author Statement
    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 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 cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasmic side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasmic side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endosome 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 
    part_of membrane coat IDA
    Inferred from Direct Assay
    more info
    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 
    located_in nuclear envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of nuclear pore IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    charged multivesicular body protein 4b
    Names
    SNF7 homolog associated with Alix 1
    Snf7 homologue associated with Alix 1
    chromatin modifying protein 4B
    chromatin-modifying protein 4b
    vacuolar protein-sorting-associated protein 32-2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_015820.1 RefSeqGene

      Range
      5045..48063
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_176812.5NP_789782.1  charged multivesicular body protein 4b

      See identical proteins and their annotated locations for NP_789782.1

      Status: REVIEWED

      Source sequence(s)
      BC033859, BU150721, CT001913
      Consensus CDS
      CCDS13228.1
      UniProtKB/Swiss-Prot
      E1P5N4, Q53ZD6, Q9H444
      Related
      ENSP00000217402.2, ENST00000217402.3
      Conserved Domains (1) summary
      pfam03357
      Location:24198
      Snf7

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      33811348..33854366
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      35537705..35580724
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)