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

Gene ID: 128866, updated on 4-Nov-2018

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; Vega:OTTHUMG00000032272
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

Genomic context

See CHMP4B in Genome Data Viewer
Location:
20q11.22
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 20 NC_000020.11 (33811304..33854367)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (32399110..32442173)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene zinc finger protein 341 Neighboring gene ribosomal protein L31 pseudogene 2 Neighboring gene ZNF341 antisense RNA 1 Neighboring gene tropomyosin 3 pseudogene 2 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Cataract, posterior polar, 3
MedGen: C1854311 OMIM: 605387 GeneReviews: Not available
Compare labs

NHGRI 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
NHGRI GWA 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 BioSystems

  • Budding and maturation of HIV virion, organism-specific biosystem (from REACTOME)
    Budding and maturation of HIV virion, organism-specific biosystemWith the virus components precariously assembled on the inner leaflet of the plasma membrane, the host cell machinery is required for viral budding. The virus takes advantage of the host ESCRT pathwa...
  • Cellular responses to stress, organism-specific biosystem (from REACTOME)
    Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • ESCRT-III complex, organism-specific biosystem (from KEGG)
    ESCRT-III complex, organism-specific biosystemStructural complex; Genetic information processing; Protein processing
  • ESCRT-III complex, conserved biosystem (from KEGG)
    ESCRT-III complex, conserved 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...
  • HIV Infection, organism-specific biosystem (from REACTOME)
    HIV Infection, organism-specific biosystemThe global pandemic of Human Immunodeficiency Virus (HIV) infection has resulted in tens of millions of people infected by the virus and millions more affected. UNAIDS estimates around 40 million ...
  • HIV Life Cycle, organism-specific biosystem (from REACTOME)
    HIV Life Cycle, organism-specific biosystemThe life cycle of HIV-1 is divided into early and late phases, shown schematically in the figure. In the early phase, an HIV-1 virion binds to receptors and co-receptors on the human host cell surfac...
  • Infectious disease, organism-specific biosystem (from REACTOME)
    Infectious disease, organism-specific biosystem
    Infectious disease
  • Late Phase of HIV Life Cycle, organism-specific biosystem (from REACTOME)
    Late Phase of HIV Life Cycle, organism-specific biosystemThe late phase of the HIV-1 life cycle includes the regulated expression of the HIV gene products and the assembly of viral particles. The assembly of viral particles will be covered in a later relea...
  • Macroautophagy, organism-specific biosystem (from REACTOME)
    Macroautophagy, organism-specific biosystemMacroautophagy (hereafter referred to as autophagy) acts as a buffer against starvation by liberating building materials and energy sources from cellular components. It has additional roles in embryo...
  • 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...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cadherin binding HDA PubMed 
identical protein binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
autophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
autophagy TAS
Traceable Author Statement
more info
PubMed 
endosomal transport TAS
Traceable Author Statement
more info
 
exit from mitosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
macroautophagy TAS
Traceable Author Statement
more info
PubMed 
maintenance of lens transparency IMP
Inferred from Mutant Phenotype
more info
PubMed 
membrane fission IMP
Inferred from Mutant Phenotype
more info
PubMed 
midbody abscission IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitotic cytokinesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitotic metaphase plate congression IMP
Inferred from Mutant Phenotype
more info
PubMed 
multivesicular body assembly TAS
Traceable Author Statement
more info
PubMed 
negative regulation of autophagosome assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell death IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of neuron death IMP
Inferred from Mutant Phenotype
more info
PubMed 
nuclear envelope reassembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
nucleus organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of viral release from host cell IMP
Inferred from Mutant Phenotype
more info
PubMed 
posttranslational protein targeting to endoplasmic reticulum membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein homooligomerization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of centrosome duplication IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of mitotic spindle assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of viral process IMP
Inferred from Mutant Phenotype
more info
PubMed 
ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
vacuolar transport IEA
Inferred from Electronic Annotation
more info
 
viral budding IMP
Inferred from Mutant Phenotype
more info
PubMed 
viral budding via host ESCRT complex IDA
Inferred from Direct Assay
more info
PubMed 
viral budding via host ESCRT complex IGI
Inferred from Genetic Interaction
more info
PubMed 
viral budding via host ESCRT complex TAS
Traceable Author Statement
more info
PubMed 
viral life cycle TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
ESCRT III complex IDA
Inferred from Direct Assay
more info
PubMed 
ESCRT III complex TAS
Traceable Author Statement
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
endosome IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
late endosome membrane IEA
Inferred from Electronic Annotation
more info
 
membrane coat IDA
Inferred from Direct Assay
more info
PubMed 
midbody IDA
Inferred from Direct Assay
more info
PubMed 
nuclear envelope IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
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
hSnf7-2
hVps32-2
vacuolar protein-sorting-associated protein 32-2

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.

Genomic

  1. NG_015820.1 RefSeqGene

    Range
    5001..48064
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_176812.4NP_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
    Q9H444
    Related
    ENSP00000217402.2, OTTHUMP00000030668, ENST00000217402.2, OTTHUMT00000078738
    Conserved Domains (1) summary
    pfam03357
    Location:24198
    Snf7; Snf7

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p12 Primary Assembly

    Range
    33811304..33854367
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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