CHMP4B
entrez
128866
canonical
uniprot
Q9H444
canonical
ensembl
ENSG00000101421
resolver
ensp
ENSP00000217402
resolver
enst
ENST00000217402
resolver
genesymbol
CHMP4B
resolver
genesymbol_syn
C20orf178
resolver
genesymbol_syn
SHAX1
resolver
hgnc
HGNC:16171
resolver
uniprot
E1P5N4
resolver
uniprot
Q53ZD6
resolver
uniprot_entry
CHM4B_HUMAN
resolver
uniprot_sec
E1P5N4
resolver
uniprot_sec
Q53ZD6
resolver
amino_acid_sequence
MSVFGKLFGAGGGKAGKGGPTPQEAIQRLRDTEEMLSKKQEFLEKKIEQELTAAKKHGTKNKRAALQALKRKKRYEKQLAQIDGTLSTIEFQREALENANTNTEVLKNMGYAAKAMKAAHDNMDIDKVDELMQDIADQQELAEEISTAISKPVGFGEEFDEDELMAELEELEQEELDKNLLEISGPETVPLPNVPSIALPSKPAKKKEEEDDDMKELENWAGSM
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:17701905}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 (PubMed:12860994, PubMed:18209100). The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis (PubMed:21310966). Together with SPAST, the ESCRT-III complex promotes nuclear envelope sealing and mitotic spindle disassembly during late anaphase (PubMed:26040712). Plays a role in the endosomal sorting pathway. 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. CHMP4A/B/C are required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413). Majority of the protein exists in a folded closed conformation (PubMed:33349255). {ECO:0000269|PubMed:12860994, ECO:0000269|PubMed:18209100, ECO:0000269|PubMed:21310966, ECO:0000269|PubMed:22660413, ECO:0000269|PubMed:26040712, ECO:0000269|PubMed:33349255}.; FUNCTION: (Microbial infection) The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the budding of enveloped viruses (HIV-1 and other lentiviruses). Via its interaction with PDCD6IP involved in HIV-1 p6- and p9-dependent virus release. {ECO:0000269|PubMed:14505569, ECO:0000269|PubMed:14505570, ECO:0000269|PubMed:14519844, ECO:0000269|PubMed:22422861}.
uniprot
proteins
mass_dalton
24950
uniprot
proteins
mutagenesis
MUTAGEN 54; /note="A->C: No loss of interaction with CC2D1B and forms a disulfide bond locking the protein in its folded closed conformation when exposed to oxidizing conditions; when associated with C-180."; /evidence="ECO:0000269|PubMed:33349255"; MUTAGEN 180; /note="L->C: No loss of interaction with CC2D1B and forms a disulfide bond locking the protein in its folded closed conformation when exposed to oxidizing conditions; when associated with C-54."; /evidence="ECO:0000269|PubMed:33349255
uniprot
proteins
post_translational_modification
PTM: ISGylated. Isgylation weakens its interaction with VPS4A. {ECO:0000269|PubMed:21543490}.
uniprot
proteins
protein_family
SNF7 family
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
12860994
uniprot
proteins
pubmed
14505569
uniprot
proteins
pubmed
14505570
uniprot
proteins
pubmed
14519844
uniprot
proteins
pubmed
14583093
uniprot
proteins
pubmed
14678797
uniprot
proteins
pubmed
15007060
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15511219
uniprot
proteins
pubmed
16856878
uniprot
proteins
pubmed
17146056
uniprot
proteins
pubmed
17428861
uniprot
proteins
pubmed
17701905
uniprot
proteins
pubmed
18190528
uniprot
proteins
pubmed
18209100
uniprot
proteins
pubmed
18434552
uniprot
proteins
pubmed
18511562
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21310966
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21543490
uniprot
proteins
pubmed
22422861
uniprot
proteins
pubmed
22660413
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26040712
uniprot
proteins
pubmed
33349255
uniprot
proteins
sequence_length
224
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:15511219}. Late endosome membrane {ECO:0000269|PubMed:15511219, ECO:0000305|PubMed:12860994}; Peripheral membrane protein {ECO:0000305}. Midbody {ECO:0000269|PubMed:21310966, ECO:0000269|PubMed:22422861}. Nucleus envelope {ECO:0000269|PubMed:26040712}. Note=Recruited to the nuclear envelope by CHMP7 during late anaphase (PubMed:26040712). Localizes transiently to the midbody arms immediately before abscission (PubMed:22422861). {ECO:0000269|PubMed:22422861, ECO:0000269|PubMed:26040712}.
uniprot
proteins