Descriptions

Charged multivesicular body protein 4b (Chmp4b) is a 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. In a study with human CHMP2A, removing 42 amino acids from the C-terminal of the protein unmasks a common ability to associate with endosomal membranes and assemble into large polymeric complexes, and the C-terminal sequences are also important for interaction of ESCRT-III protein with VPS4. Thus, ESCRT-III proteins cycle between a closed state and an activated open state is under control of sequences at the C-terminus and associated factors.

Autoinhibitory domains (AIDs)

Target domain

1-144 (N-terminal α1-α4 domains)

Relief mechanism

Partner binding

Assay

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

3 structures for Q96FZ7

Entry ID Method Resolution Chain Position Source
2K3W NMR - B 166-181 PDB
3HTU X-ray 200 A B/D/F/H 11-48 PDB
AF-Q96FZ7-F1 Predicted AlphaFoldDB

166 variants for Q96FZ7

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1168062579
CA401413658
4 L>Q No ClinGen
gnomAD
CA401413668
rs1428130137
5 F>L No ClinGen
TOPMed
gnomAD
rs753720858
CA8825888
6 G>D No ClinGen
ExAC
gnomAD
CA401413676
rs1178176355
7 R>H No ClinGen
TOPMed
gnomAD
CA401413677
rs1178176355
7 R>P No ClinGen
TOPMed
gnomAD
rs866041940
CA294979601
7 R>S No ClinGen
Ensembl
CA294979605
rs866935455
8 K>R No ClinGen
Ensembl
CA401413714
rs1316115445
10 Q>R No ClinGen
gnomAD
CA294979616
rs531055555
11 S>N No ClinGen
1000Genomes
gnomAD
CA401413738
rs1278973196
12 R>G No ClinGen
gnomAD
rs757131739
CA401413747
12 R>L No ClinGen
ExAC
gnomAD
rs757131739
CA8825890
12 R>P No ClinGen
ExAC
gnomAD
CA401413777
rs1215925486
15 E>K No ClinGen
TOPMed
gnomAD
CA294979625
rs549254852
18 K>R No ClinGen
1000Genomes
TOPMed
gnomAD
CA8825905
rs759794169
22 Q>H No ClinGen
ExAC
gnomAD
rs1418196604
CA401414018
23 L>M No ClinGen
gnomAD
CA8825907
rs752854065
27 R>Q No ClinGen
ExAC
gnomAD
rs375030925
COSM1387178
CA294981387
27 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
gnomAD
rs760760031
CA8825908
31 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs1391699315
CA401414084
32 Q>H No ClinGen
gnomAD
rs1305079582
CA401414080
32 Q>P No ClinGen
TOPMed
gnomAD
CA401414100
rs1390997215
34 Q>H No ClinGen
gnomAD
CA401414124
rs913344986
38 A>S No ClinGen
TOPMed
gnomAD
rs913344986
CA294981409
COSM1387179
38 A>T large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA401414135
rs1354158007
39 Q>H No ClinGen
TOPMed
rs1241396666
CA401414141
40 Q>L No ClinGen
TOPMed
gnomAD
rs1328933018
CA401414147
41 L>P No ClinGen
TOPMed
gnomAD
rs1314960544
CA401414149
42 E>K No ClinGen
TOPMed
gnomAD
CA8825910
rs753912872
43 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA294981414
rs753912872
43 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA8825911
rs757260155
43 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs757260155
CA401414159
43 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA401414158
rs757260155
43 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA294981429
rs946123498
44 E>K No ClinGen
TOPMed
gnomAD
CA8825913
rs367935751
45 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8825914
rs370737009
45 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs768409056
CA8825917
46 A>D No ClinGen
ExAC
gnomAD
rs746599881
COSM1201075
CA8825916
46 A>T large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1446425080
CA401414498
48 A>T No ClinGen
gnomAD
CA8825919
rs747578129
49 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8825918
rs375540118
49 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs774668805
CA8825921
53 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8825924
rs143663975
54 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs572398921
CA8825922
54 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA401414574
rs1336541479
55 G>D No ClinGen
gnomAD
CA8825925
RCV000957714
VAR_061807
rs61037507
55 G>S No ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA294981480
rs531696317
57 K>R No ClinGen
1000Genomes
CA8825948
rs773327335
59 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs545758125
CA8825947
59 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs762864286
CA8825949
60 A>T No ClinGen
ExAC
gnomAD
CA8825950
rs766385072
61 K>E No ClinGen
ExAC
gnomAD
CA401414709
rs1484880586
62 L>V No ClinGen
gnomAD
rs751446580
CA8825951
63 L>P No ClinGen
ExAC
gnomAD
CA401414729
rs1277431773
64 L>H No ClinGen
TOPMed
rs1478192729
CA401414741
65 K>R No ClinGen
gnomAD
rs1396866207
CA401414750
66 K>E No ClinGen
gnomAD
rs1198901998
CA401414765
67 K>Q No ClinGen
gnomAD
rs1427533149
CA401414789
68 R>* No ClinGen
gnomAD
rs202074825
CA8825954
68 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA401414813
rs1345096674
70 Q>* No ClinGen
gnomAD
CA401414815
rs1375422835
70 Q>R No ClinGen
TOPMed
CA401414873
rs1393861415
74 L>P No ClinGen
gnomAD
CA401414906
rs1340532521
77 T>A No ClinGen
gnomAD
rs777217739
CA8825956
77 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs758954913
CA8825958
78 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs1219563645
CA401414933
79 N>D No ClinGen
gnomAD
CA401414940
rs1283236782
79 N>T No ClinGen
gnomAD
rs1314939752
CA401414995
83 S>C No ClinGen
gnomAD
rs780491368
CA8825959
86 A>T No ClinGen
ExAC
TOPMed
gnomAD
COSM1387180
CA8825960
rs146664368
87 M>T large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA401415043
rs1598439049
87 M>V No ClinGen
Ensembl
rs1187324321
CA401415144
88 V>A No ClinGen
TOPMed
gnomAD
CA401415135
rs1329035184
88 V>I No ClinGen
TOPMed
rs771064246
CA8825984
90 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs774563156
CA8825985
92 E>D No ClinGen
ExAC
gnomAD
CA401415253
rs148861093
96 I>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs759617929
CA8825986
96 I>V No ClinGen
ExAC
gnomAD
COSM3712596
rs775200526
CA8825988
97 E>K upper_aerodigestive_tract [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1168163552
CA401415294
99 K>R No ClinGen
gnomAD
CA294982133
rs960947086
100 V>M No ClinGen
Ensembl
rs763687939
CA8825990
101 M>V No ClinGen
ExAC
gnomAD
rs770316794
CA294982152
105 Q>R No ClinGen
TOPMed
gnomAD
CA294982158
rs969096884
106 F>S No ClinGen
TOPMed
rs899231371
CA401415424
108 N>I No ClinGen
TOPMed
gnomAD
CA294982166
rs899231371
108 N>S No ClinGen
TOPMed
gnomAD
CA401415450
rs1204509310
110 C>S No ClinGen
TOPMed
rs1324363608
CA401415477
112 N>K No ClinGen
gnomAD
CA8825994
rs749930438
113 K>E No ClinGen
ExAC
gnomAD
CA401415504
rs1450204192
114 M>I No ClinGen
gnomAD
CA294982173
rs1026333818
114 M>T No ClinGen
TOPMed
CA294982171
rs993527464
114 M>V No ClinGen
TOPMed
CA8825996
rs781707570
115 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8825995
rs755517578
115 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs772807455
CA8826032
117 V>G No ClinGen
ExAC
gnomAD
rs1290343604
CA401415976
117 V>M No ClinGen
gnomAD
rs1437011435
CA401415993
118 M>I No ClinGen
gnomAD
rs762369762
CA8826033
118 M>V No ClinGen
ExAC
gnomAD
rs765854602
CA8826034
119 S>C No ClinGen
ExAC
gnomAD
CA8826036
rs761287804
120 I>F No ClinGen
ExAC
TOPMed
gnomAD
rs764679129
CA8826037
120 I>T No ClinGen
ExAC
gnomAD
CA401416014
rs1598439912
121 E>K No ClinGen
Ensembl
CA401416022
rs1384615521
121 E>V No ClinGen
gnomAD
CA8826038
rs754281461
122 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA401416057
rs1598439921
125 R>G No ClinGen
Ensembl
CA8826039
rs757660097
125 R>K No ClinGen
ExAC
gnomAD
CA8826041
rs750603328
126 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs979496082
CA294983251
128 D>N No ClinGen
TOPMed
rs148035263
CA8826043
129 E>K No ClinGen
ESP
ExAC
gnomAD
COSM985768
rs751560399
CA8826044
130 T>M endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA401416118
rs751560399
130 T>R No ClinGen
ExAC
TOPMed
gnomAD
CA8826048
rs769508597
134 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA401416188
rs1338185676
136 Y>F No ClinGen
TOPMed
rs1406323010
CA401416180
136 Y>H No ClinGen
TOPMed
rs1338185676
CA401416185
136 Y>S No ClinGen
TOPMed
CA8826049
rs777413976
137 Q>R No ClinGen
ExAC
gnomAD
rs571705472
CA8826051
138 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8826050
rs374165984
138 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA401416266
rs1467993438
140 I>T No ClinGen
TOPMed
gnomAD
rs749017305
CA8826070
140 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA8826073
rs778393768
142 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA8826072
rs778393768
142 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8826074
rs771651012
143 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs775129103
CA8826075
145 A>E No ClinGen
ExAC
gnomAD
rs775129103
CA401416312
145 A>V No ClinGen
ExAC
gnomAD
rs762478419
CA8826076
148 F>L No ClinGen
ExAC
gnomAD
CA8826078
rs370646614
149 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs770391920
CA8826077
149 T>S No ClinGen
ExAC
gnomAD
CA8826080
rs763177718
151 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA8826079
rs763177718
151 E>V No ClinGen
ExAC
TOPMed
gnomAD
rs1598440045
CA401416397
154 D>A No ClinGen
Ensembl
rs751661361
CA401416399
154 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs759621441
CA401416406
155 A>S No ClinGen
ExAC
gnomAD
rs759621441
CA8826082
155 A>T No ClinGen
ExAC
gnomAD
CA8826083
rs767639574
156 I>V No ClinGen
ExAC
gnomAD
rs142871819
CA8826085
157 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8826086
rs763891085
158 E>K No ClinGen
ExAC
gnomAD
CA8826087
rs368586729
159 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA401416477
rs1320711205
161 S>N No ClinGen
TOPMed
rs199688363
CA8826088
162 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs778641560
CA8826089
162 A>V No ClinGen
ExAC
gnomAD
CA8826092
rs199755726
163 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA8826091
rs199755726
163 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs567503075
CA294984595
167 Q>E No ClinGen
ExAC
gnomAD
rs567503075
CA8826165
167 Q>K No ClinGen
ExAC
gnomAD
rs1568029539
CA401417008
168 I>T No ClinGen
Ensembl
CA401417003
rs1403087858
168 I>V No ClinGen
TOPMed
rs768892232
CA8826167
171 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA8826168
rs745597012
173 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs769881954
CA8826170
175 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA8826172
rs762854982
176 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA8826173
rs762854982
176 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs751391493
CA8826174
178 L>F No ClinGen
ExAC
gnomAD
CA401417115
rs1442291974
179 P>R No ClinGen
gnomAD
rs759148380
CA8826175
179 P>S No ClinGen
ExAC
gnomAD
CA401417123
rs1238662062
180 E>Q No ClinGen
gnomAD
rs1021806302
CA294984725
183 P>L No ClinGen
Ensembl
CA8826250
rs758387244
186 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA8826251
rs779819555
187 P>L No ClinGen
ExAC
gnomAD
CA401418243
rs1433900763
187 P>S No ClinGen
TOPMed
CA8826252
rs149377306
190 A>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8826253
rs768379998
193 R>K No ClinGen
ExAC
gnomAD
rs747860727
CA8826255
194 Q>H No ClinGen
ExAC
gnomAD
rs144716331
CA8826256
195 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374101426
COSM77470
CA8826257
195 A>V ovary large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1598440835
CA401418314
198 V>G No ClinGen
Ensembl
rs772663792
CA8826259
201 S>L No ClinGen
ExAC
gnomAD

No associated diseases with Q96FZ7

No regional properties for Q96FZ7

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q96FZ7

Functions

Description
EC Number
Subcellular Localization
  • Endomembrane system
  • Endosome membrane; Lipid-anchor
  • Late endosome membrane
  • Membrane ; Lipid-anchor
  • Localizes to endosomal membranes
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

15 GO annotations of cellular component

Name Definition
amphisome membrane Any membrane that is part of an amphisome.
autophagosome membrane The lipid bilayer surrounding an autophagosome, a double-membrane-bounded vesicle in which endogenous cellular material is sequestered.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endosome membrane The lipid bilayer surrounding an endosome.
ESCRT III complex A complex with membrane scission activity that plays a major role in many processes where membranes are remodelled - including endosomal transport (vesicle budding), nuclear envelope organisation (membrane closure, mitotic bridge cleavage), and cytokinesis (abscission).
extracellular exosome A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
kinetochore A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules.
kinetochore microtubule Any of the spindle microtubules that attach to the kinetochores of chromosomes by their plus ends, and maneuver the chromosomes during mitotic or meiotic chromosome segregation.
lysosomal membrane The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
midbody A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis.
multivesicular body A type of endosome in which regions of the limiting endosomal membrane invaginate to form internal vesicles; membrane proteins that enter the internal vesicles are sequestered from the cytoplasm.
multivesicular body membrane The lipid bilayer surrounding a multivesicular body.
nuclear pore A protein complex providing a discrete opening in the nuclear envelope of a eukaryotic cell, where the inner and outer nuclear membranes are joined.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

2 GO annotations of molecular function

Name Definition
protein N-terminus binding Binding to a protein N-terminus, the end of any peptide chain at which the 2-amino (or 2-imino) function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue.
protein-containing complex binding Binding to a macromolecular complex.

22 GO annotations of biological process

Name Definition
autophagosome maturation Removal of PI3P and Atg8/LC3 after the closure of the phagophore and before the fusion with the endosome/lysosome (e.g. mammals and insects) or vacuole (yeast), and that very likely destabilizes other Atg proteins and thus enables their efficient dissociation and recycling.
autophagy The cellular catabolic process in which cells digest parts of their own cytoplasm; allows for both recycling of macromolecular constituents under conditions of cellular stress and remodeling the intracellular structure for cell differentiation.
ESCRT III complex assembly The aggregation, arrangement and bonding together of a set of components to form an ESCRT III complex.
late endosome to lysosome transport The directed movement of substances from late endosome to lysosome.
late endosome to vacuole transport via multivesicular body sorting pathway The directed movement of substances from endosomes to vacuoles by a pathway in which molecules are sorted into multivesicular bodies, which then fuse with the vacuole.
macroautophagy The major inducible pathway for the general turnover of cytoplasmic constituents in eukaryotic cells, it is also responsible for the degradation of active cytoplasmic enzymes and organelles during nutrient starvation. Macroautophagy involves the formation of double-membrane-bounded autophagosomes which enclose the cytoplasmic constituent targeted for degradation in a membrane-bounded structure. Autophagosomes then fuse with a lysosome (or vacuole) releasing single-membrane-bounded autophagic bodies that are then degraded within the lysosome (or vacuole). Some types of macroautophagy, e.g. pexophagy, mitophagy, involve selective targeting of the targets to be degraded.
midbody abscission The process by which the midbody, the cytoplasmic bridge that connects the two prospective daughter cells, is severed at the end of mitotic cytokinesis, resulting in two separate daughter cells.
mitotic metaphase plate congression The cell cycle process in which chromosomes are aligned at the metaphase plate, a plane halfway between the poles of the mitotic spindle, during mitosis.
multivesicular body assembly The aggregation, arrangement and bonding together of a set of components to form a multivesicular body, a type of late endosome in which regions of the limiting endosomal membrane invaginate to form internal vesicles; membrane proteins that enter the internal vesicles are sequestered from the cytoplasm.
multivesicular body sorting pathway A vesicle-mediated transport process in which transmembrane proteins are ubiquitylated to facilitate their entry into luminal vesicles of multivesicular bodies (MVBs); upon subsequent fusion of MVBs with lysosomes or vacuoles, the cargo proteins are degraded.
negative regulation of cell death Any process that decreases the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death.
negative regulation of epidermal growth factor-activated receptor activity Any process that stops, prevents, or reduces the frequency, rate or extent of EGF-activated receptor activity.
nuclear membrane reassembly The reformation of the nuclear membranes following their breakdown in the context of a normal process.
nucleus organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the nucleus.
plasma membrane repair The resealing of a cell plasma membrane after cellular wounding due to, for instance, mechanical stress.
protein transport The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
regulation of mitotic spindle assembly Any process that modulates the frequency, rate or extent of mitotic spindle assembly.
regulation of protein catabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds.
ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway The chemical reactions and pathways resulting in the breakdown of a protein or peptide covalently tagged with ubiquitin, via the multivesicular body (MVB) sorting pathway; ubiquitin-tagged proteins are sorted into MVBs, and delivered to a lysosome/vacuole for degradation.
vesicle budding from membrane The evagination of a membrane, resulting in formation of a vesicle.
viral budding from plasma membrane A viral budding that starts with formation of a membrane curvature in the host plasma membrane.
viral budding via host ESCRT complex Viral budding which uses a host ESCRT protein complex, or complexes, to mediate the budding process.

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9BY43 CHMP4A Charged multivesicular body protein 4a Homo sapiens (Human) SS
10 20 30 40 50 60
MGNLFGRKKQ SRVTEQDKAI LQLKQQRDKL RQYQKRIAQQ LERERALARQ LLRDGRKERA
70 80 90 100 110 120
KLLLKKKRYQ EQLLDRTENQ ISSLEAMVQS IEFTQIEMKV MEGLQFGNEC LNKMHQVMSI
130 140 150 160 170 180
EEVERILDET QEAVEYQRQI DELLAGSFTQ EDEDAILEEL SAITQEQIEL PEVPSEPLPE
190 200
KIPENVPVKA RPRQAELVAA S