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

Gene ID: 128866, updated on 4-Dec-2022

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
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Genomic context

See CHMP4B in Genome Data Viewer
Location:
20q11.22
Exon count:
5
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (33811348..33854366)
110 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 Sharpr-MPRA regulatory region 14745 Neighboring gene ZNF341 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 12013 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 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

Homology

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
PubMed 
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 IC
Inferred by Curator
more info
PubMed 
involved_in membrane fission IMP
Inferred from Mutant Phenotype
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 plate congression IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in multivesicular body assembly IC
Inferred by Curator
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 IC
Inferred by Curator
more info
PubMed 
involved_in negative regulation of autophagosome assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of cell death IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of neuron death 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 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
PubMed 
involved_in vesicle fusion with vacuole IC
Inferred by Curator
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
PubMed 
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
PubMed 
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
PubMed 
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)

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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.

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
    Q53ZD6, Q9H444
    Related
    ENSP00000217402.2, ENST00000217402.3
    Conserved Domains (1) summary
    pfam03357
    Location:24198
    Snf7

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)