InnateDB Protein
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IDBP-67446.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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CHMP4B
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Protein Name
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charged multivesicular body protein 4B
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000217402
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InnateDB Gene
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IDBG-67444 (CHMP4B)
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Protein Structure
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Function |
Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. When overexpressed, membrane-assembled circular arrays of CHMP4B filaments can promote or stabilize negative curvature and outward budding. Via its interaction with PDCD6IP involved in HIV-1 p6- and p9-dependent virus release. {ECO:0000269PubMed:12860994, ECO:0000269PubMed:14505569, ECO:0000269PubMed:14505570, ECO:0000269PubMed:14519844, ECO:0000269PubMed:18209100}.
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Subcellular Localization |
Cytoplasm, cytosol. Late endosome membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}.
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Disease Associations |
Cataract 31, multiple types (CTRCT31) [MIM:605387]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT31 includes posterior polar, progressive posterior subcapsular, nuclear, and anterior subcapsular cataracts. {ECO:0000269PubMed:17701905}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Widely expressed. Expressed at higher level in heart and skeletal muscle. Also expressed in brain, colon, thymus, spleen, kidney, liver, small intestine, placenta, lung and peripheral blood lymphocytes. {ECO:0000269PubMed:14678797}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 33 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated |
Total |
33
[view]
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Protein-Protein |
33
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR005024
Snf7
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PFAM |
PF03357
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9H444
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PhosphoSite |
PhosphoSite-Q9H444
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
128866
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UniGene |
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RefSeq |
NP_789782
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HUGO |
HGNC:16171
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OMIM |
610897
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CCDS |
CCDS13228
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HPRD |
16642
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IMGT |
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EMBL |
AB100261
AL050349
AY329085
BC033859
CH471077
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GenPept |
AAH33859
AAQ91194
BAC79375
CAC14088
EAW76293
EAW76294
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