CHMP4B
Charged multivesicular body protein 4b
Also known as: C20orf178, CHM4B_HUMAN, dJ553F4.4, Shax1, SNF7-2, VPS32B
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9H444
- Gene
- CHMP4B
- Ensembl
- ENSG00000101421
- Chromosome
- 20
- Canonical length
- 224 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
224 residues, UniProt reviewed canonical sequence.
>Q9H444|CHMP4B
1 MSVFGKLFGA GGGKAGKGGP TPQEAIQRLR DTEEMLSKKQ EFLEKKIEQE LTAAKKHGTK
61 NKRAALQALK RKKRYEKQLA QIDGTLSTIE FQREALENAN TNTEVLKNMG YAAKAMKAAH
121 DNMDIDKVDE LMQDIADQQE LAEEISTAIS KPVGFGEEFD EDELMAELEE LEQEELDKNL
181 LEISGPETVP LPNVPSIALP SKPAKKKEEE DDDMKELENW AGSMLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CHMP4B can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.51
- Highest tissue expression
- 228 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 228 nTPM
- bone marrow: 202 nTPM
- blood vessel: 175 nTPM
- cerebral cortex: 162 nTPM
- esophagus: 157 nTPM
- colon: 151 nTPM
Single-cell type
- esophageal apical cells: 776 nCPM
- syncytiotrophoblasts: 603 nCPM
- esophageal suprabasal cells: 592 nCPM
- enterocytes: 565 nCPM
- colonocytes: 483 nCPM
- neutrophils: 414 nCPM
Immune cell
- plasmacytoid DC: 4 nTPM
- neutrophil: 2.3 nTPM
- classical monocyte: 1.8 nTPM
- intermediate monocyte: 1.7 nTPM
- memory B-cell: 1.6 nTPM
- non-classical monocyte: 1.4 nTPM
Brain region
- cerebral cortex: 108 nTPM
- hypothalamus: 90 nTPM
- medulla oblongata: 88 nTPM
- white matter: 88 nTPM
- thalamus: 86 nTPM
- pons: 84 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CHMP4B.
Disease | AllUniProt
Conditions CHMP4B is implicated in, by any mechanism.
- Cataract 31, multiple types (CTRCT31) MIM:605387
Disease | GeneticClinVar
3 pathogenic / likely-pathogenic of 48 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Cataract 31 multiple types
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.3
- gnomAD pLI
- 0.96
- gnomAD missense Z
- 2.38
- DepMap mean gene effect
- -1.04
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 14% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- autophagosome maturation
- autophagy
- exit from mitosis
- late endosome to lysosome transport
- late endosome to vacuole transport via multivesicular body sorting pathway
- macroautophagy
- maintenance of lens transparency
- membrane fission
- midbody abscission
- mitotic cytokinesis
- mitotic metaphase chromosome alignment
- multivesicular body assembly
- multivesicular body sorting pathway
- multivesicular body-lysosome fusion
- nervous system process
- nuclear membrane reassembly
- nucleus organization
- plasma membrane repair
- post-translational protein targeting to endoplasmic reticulum membrane
- protein polymerization
- protein transport
- regulation of centrosome duplication
- regulation of mitotic spindle assembly
- ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway
- ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway
- vesicle budding from membrane
- vesicle fusion with vacuole
- viral budding
- viral budding from plasma membrane
- viral budding via host ESCRT complex
Molecular functions
Cellular components
- amphisome membrane
- autophagosome membrane
- cytoplasm
- cytoplasmic side of plasma membrane
- cytosol
- endosome
- ESCRT III complex
- extracellular exosome
- kinetochore
- kinetochore microtubule
- lysosomal membrane
- membrane coat
- midbody
- multivesicular body
- multivesicular body membrane
- nuclear envelope
- nuclear pore
- nucleus
- plasma membrane
- vesicle
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CHMP4B in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CHMP4B as an antibody target. Whether an autoantibody or antibody against CHMP4B could matter depends on whether native CHMP4B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CHMP4B is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label CHMP4B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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