CHMP4B charged multivesicular body protein 4B [Homo sapiens] - Gene

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Summary

Official Symbol: CHMP4Bprovided by HGNC
Official Full Name: charged multivesicular body protein 4Bprovided by HGNC
Primary source: HGNC:16171
See related: Ensembl:ENSG00000101421; HPRD:16642; 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; 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]

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Genomic context

Location :: 20q11.22

Sequence :: Chromosome: 20; NC_000020.10 (32399110..32442173)

See CHMP4B in Epigenomics, MapViewer

Chromosome 20 - NC_000020.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

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

hSnf7-1 and hSnf7-2 are preferentially associated with CHMP2A and CHMP2B, respectively, and regulate the turnover of distinct transmembrane cargos such as neurotransmitter receptors in human neurons.
Title: ESCRT-III subunits Snf7-1 and Snf7-2 differentially regulate transmembrane cargos in hESC-derived human neurons.
The CHMP4b- and Src-docking sites in the Bro1 domain are autoinhibited in the native state of Alix.
Title: The CHMP4b- and Src-docking sites in the Bro1 domain are autoinhibited in the native state of Alix.
The Bro1 domain of ALIX binds specifically to C-terminal residues of the human CHMP4B.
Title: ALIX-CHMP4 interactions in the human ESCRT pathway.
Results suggest that efficient interaction between CHMP4s and Brox requires Brox farnesylation.
Title: Brox, a novel farnesylated Bro1 domain-containing protein that associates with charged multivesicular body protein 4 (CHMP4).
Study demonstrates that CHMP4A and CHMP4B proteins form novel membrane-attached filaments that can promote or stabilize negative curvature and outward budding.
Title: Plasma membrane deformation by circular arrays of ESCRT-III protein filaments.
These data provide the first evidence that CHMP4B plays a vital role the maintenance of lens transparency.
Title: CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q.
CHMP4b and Alix participate in formation of multivesicular bodies by cooperating with SKD1
Title: The ALG-2-interacting protein Alix associates with CHMP4b, a human homologue of yeast Snf7 that is involved in multivesicular body sorting.
ALIX can have a dramatic effect on HIV-1 release by binding at the CHMP4B site; the ability to use ALIX may allow HIV-1 to replicate in cells that express only low levels of Tsg101
Title: Potent rescue of human immunodeficiency virus type 1 late domain mutants by ALIX/AIP1 depends on its CHMP4 binding site.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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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Products	Interactant	Other Gene	Source	Pubs	Description
NP_789782.1	NP_037506.2	PDCD6IP	BIND	PubMed	CHMP4A interacts with Alix.
Q9H444	Q7LBR1	CHMP1B	HPRD	PubMed
Q9H444	Q9Y3E7	CHMP3	HPRD	PubMed
Q9H444	Q9BY43	CHMP4A	HPRD	PubMed
Q9H444	Q9H444	CHMP4B	HPRD	PubMed
Q9H444	Q96CF2	CHMP4C	HPRD	PubMed
Q9H444	Q9NZZ3	CHMP5	HPRD	PubMed
Q9H444	Q96FZ7	CHMP6	HPRD	PubMed
Q9H444	Q06265	EXOSC9	HPRD	PubMed
Q9H444	Q9H2X6	HIPK2	HPRD	PubMed
Q9H444	Q8WUM4	PDCD6IP	HPRD	PubMed
Q9H444	O75928	PIAS2	HPRD	PubMed
Q9H444	O95630	STAMBP	HPRD	PubMed
Q9H444	P63279	UBE2I	HPRD	PubMed
Q9H444	Q9UN37	VPS4A	HPRD	PubMed
BioGRID:126170	BioGRID:211654	Chmp3	BioGRID	PubMed	Affinity Capture-MS
BioGRID:126170	BioGRID:115863	STAMBP	BioGRID	PubMed	Two-hybrid
BioGRID:126170	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:126170	BioGRID:113177	UBE2I	BioGRID	PubMed	Two-hybrid

Function	Evidence Code	Pubs
protein binding	IPI Inferred from Physical Interaction more info

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

General protein information

Preferred Names: charged multivesicular body protein 4b

Names: charged multivesicular body protein 4b; hSnf7-2; hVps32-2; chromatin modifying protein 4B; chromatin-modifying protein 4b; SNF7 homolog associated with Alix 1; Snf7 homologue associated with Alix 1; vacuolar protein sorting-associated protein 32-2; vacuolar protein-sorting-associated protein 32-2

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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.

Genomic

NG_015820.1 RefSeqGene

Range

5001..48064

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Status: REVIEWED

Source sequence(s)

BC033859, BU150721, CT001913

Consensus CDS

CCDS13228.1

UniProtKB/Swiss-Prot

Q9H444

Related

ENSP00000217402, OTTHUMP00000030668, ENST00000217402, OTTHUMT00000078738

Conserved Domains (1) summary

cl02305
Location:24 – 156
Blast Score: 306

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

NC_000020.10 Reference GRCh37.p5 Primary Assembly

Range

32399110..32442173

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000152.1 Alternate HuRef

Range

29183904..29227019

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL050349.27	CAC14088.1
genomic	CH471077.2	EAW76293.1
		EAW76294.1
mRNA	AB100261.1	BAC79375.1
mRNA	AY329085.1	AAQ91194.1
mRNA	AY726594.1	None
mRNA	BC033859.1	AAH33859.1
mRNA	BQ926070.1	None
mRNA	BU150721.1	None
mRNA	CT001913.1	None