AiPD: Autoinhibited Protein Database

Q9BY43

Gene name	CHMP4A
Protein name	Charged multivesicular body protein 4a
Names	Chromatin-modifying protein 4a, CHMP4a, SNF7 homolog associated with Alix-2, SNF7-1, hSnf-1, Vacuolar protein sorting-associated protein 32-1, Vps32-1, hVps32-1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:29082
EC number
Protein Class

Descriptions

Charged multivesicular body protein 4A (CHMP4A) 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)

182-222 (C-terminal autoinhibitory region) SS

Target domain	1-144 (N-terminal α1-α4 domains)
Relief mechanism	Partner binding
Assay

AID

182-222 (C-terminal autoinhibitory region)

Target domain

1-144 (N-terminal α1-α4 domains)

Relief mechanism

Partner binding (Binding of Vps4 to C-terminal α6 domain)

Assay

Accessory elements

No accessory elements

References

Shim S et al. (2007) "Structure/function analysis of four core ESCRT-III proteins reveals common regulatory role for extreme C-terminal domain", Traffic (Copenhagen, Denmark), 8, 1068-79

Autoinhibited structure

Activated structure

3 structures for Q9BY43

Entry ID	Method	Resolution	Chain	Position	Source
3C3O	X-ray	215 A	B	210-222	PDB
5MK1	X-ray	250 A	E/F/H/K	205-222	PDB
AF-Q9BY43-F1	Predicted				AlphaFoldDB

334 variants for Q9BY43

Variant ID(s)	Position	Change	Diseaes Association	Provenance
rs1355912999 CA389328571	3	G>S	No	ClinGen TOPMed gnomAD
rs1355912999	3	G>S	No	TOPMed gnomAD
rs1167943844	5	G>C	No	TOPMed
CA389328557 rs1167943844	5	G>C	No	ClinGen TOPMed
rs144411001	6	R>G	No	1000Genomes ESP ExAC TOPMed gnomAD
CA7129619 rs144411001	6	R>G	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779952199	7	L>F	No	ExAC TOPMed gnomAD
rs779952199 CA7129617	7	L>F	No	ClinGen ExAC TOPMed gnomAD
CA389328542 rs1457849995	8	F>L	No	ClinGen gnomAD
rs1457849995	8	F>L	No	gnomAD
rs1404788543	9	G>V	No	TOPMed
rs1404788543 CA389328530	9	G>V	No	ClinGen TOPMed
CA7129616 rs533438540	10	K>*	No	ClinGen 1000Genomes ExAC gnomAD
rs533438540	10	K>*	No	1000Genomes ExAC gnomAD
rs765685878 CA7129581	11	G>E	No	ClinGen ExAC gnomAD
rs765685878	11	G>E	No	ExAC gnomAD
rs149642194	11	G>R	No	ESP ExAC TOPMed gnomAD
rs149642194 CA389328521	11	G>R	No	ClinGen ESP ExAC TOPMed gnomAD
rs149642194 CA7129615	11	G>W	No	ClinGen ESP ExAC TOPMed gnomAD
rs149642194	11	G>W	No	ESP ExAC TOPMed gnomAD
rs757811080	12	K>Q	No	ExAC TOPMed gnomAD
CA7129580 rs757811080	12	K>Q	No	ClinGen ExAC TOPMed gnomAD
CA7129579 rs147406718	14	E>D	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147406718	14	E>D	No	1000Genomes ESP ExAC TOPMed gnomAD
rs1594470213	17	P>L	No	Ensembl
rs1594470213 CA389328320	17	P>L	No	ClinGen Ensembl
rs760234379	17	P>S	No	ExAC
CA7129577 rs760234379	17	P>S	No	ClinGen ExAC
rs1375826151	18	T>I	No	gnomAD
rs1375826151 CA389328312	18	T>I	No	ClinGen gnomAD
rs1308822959	19	P>L	No	gnomAD
rs1308822959 CA389328306	19	P>L	No	ClinGen gnomAD
rs375389578	24	Q>*	No	1000Genomes ESP ExAC gnomAD
CA7129574 rs375389578	24	Q>*	No	ClinGen 1000Genomes ESP ExAC gnomAD
rs375389578	24	Q>E	No	1000Genomes ESP ExAC gnomAD
CA7129575 rs375389578	24	Q>E	No	ClinGen 1000Genomes ESP ExAC gnomAD
rs1226800374	28	E>D	No	gnomAD
CA389328243 rs1226800374	28	E>D	No	ClinGen gnomAD
rs774307454	29	T>I	No	ExAC TOPMed gnomAD
CA389328237 rs774307454	29	T>I	No	ClinGen ExAC TOPMed gnomAD
rs774307454 CA7129573	29	T>R	No	ClinGen ExAC TOPMed gnomAD
rs774307454	29	T>R	No	ExAC TOPMed gnomAD
rs146309316 CA7129572	30	E>Q	No	ClinGen ESP ExAC TOPMed gnomAD
rs146309316	30	E>Q	No	ESP ExAC TOPMed gnomAD
rs1011892227	33	L>R	No	gnomAD
rs1011892227 CA257896935	33	L>R	No	ClinGen gnomAD
rs1387575321	33	L>V	No	TOPMed
rs1387575321 CA389328213	33	L>V	No	ClinGen TOPMed
CA389328208 rs1264841190	34	I>F	No	ClinGen TOPMed
rs1264841190	34	I>F	No	TOPMed
rs776846184	38	E>K	No	ExAC
CA7129569 rs776846184	38	E>K	No	ClinGen ExAC
rs960659105	41	E>*	No	Ensembl
rs960659105 CA257896927	41	E>*	No	ClinGen Ensembl
CA7129567 rs768837042	42	Q>L	No	ClinGen ExAC
rs768837042	42	Q>L	No	ExAC
rs1339767718	44	I>N	No	TOPMed
CA389328132 rs1339767718	44	I>N	No	ClinGen TOPMed
rs1393090952	45	Q>R	No	Ensembl
CA389328124 rs1393090952	45	Q>R	No	ClinGen Ensembl
rs747071344 CA7129566	47	E>K	No	ClinGen ExAC gnomAD
rs747071344	47	E>K	No	ExAC gnomAD
CA389328102 rs1275508183	48	L>P	No	ClinGen gnomAD
rs1275508183	48	L>P	No	gnomAD
CA7129565 rs780253706	49	Q>*	No	ClinGen ExAC gnomAD
rs780253706	49	Q>*	No	ExAC gnomAD
CA7129564 rs758572495	50	T>I	No	ClinGen ExAC gnomAD
rs758572495	50	T>I	No	ExAC gnomAD
rs1291895198 CA389328083	51	A>V	No	ClinGen Ensembl
rs1291895198	51	A>V	No	Ensembl
rs779290833	52	K>R	No	ExAC gnomAD
CA7129562 rs779290833	52	K>R	No	ClinGen ExAC gnomAD
rs754404734	53	K>N	No	ExAC gnomAD
CA7129561 rs754404734	53	K>N	No	ClinGen ExAC gnomAD
rs764525280 CA7129559	56	T>N	No	ClinGen ExAC gnomAD
rs764525280	56	T>N	No	ExAC gnomAD
CA7129557 rs752178530	58	N>K	No	ClinGen ExAC TOPMed gnomAD
rs752178530	58	N>K	No	ExAC TOPMed gnomAD
rs1397169372	58	N>S	No	gnomAD
rs1397169372 CA389328038	58	N>S	No	ClinGen gnomAD
rs941386423	60	R>T	No	TOPMed
rs941386423 CA257896905	60	R>T	No	ClinGen TOPMed
CA257896850 rs1039775478	65	A>T	No	ClinGen TOPMed
rs1039775478	65	A>T	No	TOPMed
rs1341250015 CA389327982	65	A>V	No	ClinGen TOPMed
rs1341250015	65	A>V	No	TOPMed
CA389327972 rs145042317	67	R>G	No	ClinGen ESP ExAC TOPMed gnomAD
rs145042317	67	R>G	No	ESP ExAC TOPMed gnomAD
rs141054901 CA7129539	67	R>Q	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141054901	67	R>Q	No	1000Genomes ESP ExAC TOPMed gnomAD
rs145042317	67	R>W	No	ESP ExAC TOPMed gnomAD
CA7129540 rs145042317	67	R>W	No	ClinGen ESP ExAC TOPMed gnomAD
rs370444152	69	K>Q	No	ESP ExAC TOPMed gnomAD
rs370444152 CA7129538	69	K>Q	No	ClinGen ESP ExAC TOPMed gnomAD
rs556369622	72	F>Y	No	ExAC gnomAD
rs556369622 CA7129537	72	F>Y	No	ClinGen ExAC gnomAD
CA7129534 rs751315520	73	E>A	No	ClinGen ExAC gnomAD
rs751315520	73	E>A	No	ExAC gnomAD
rs575738905 CA7129535	73	E>K	No	ClinGen 1000Genomes ExAC gnomAD
rs575738905	73	E>K	No	1000Genomes ExAC gnomAD
CA257896818 rs201480938	74	Q>*	No	ClinGen gnomAD
rs201480938	74	Q>*	No	gnomAD
CA7129533 rs766142791	74	Q>H	No	ClinGen ExAC gnomAD
rs766142791	74	Q>H	No	ExAC gnomAD
rs1210651507	75	Q>L	No	gnomAD
rs1210651507 CA389327918	75	Q>L	No	ClinGen gnomAD
rs1339217657	77	A>P	No	TOPMed gnomAD
rs1339217657 CA389327907	77	A>P	No	ClinGen TOPMed gnomAD
rs12436892	77	A>V	No	ExAC TOPMed gnomAD
rs12436892 CA7129532	77	A>V	No	ClinGen ExAC TOPMed gnomAD
rs750214495	80	D>N	No	ExAC gnomAD
CA7129531 rs750214495	80	D>N	No	ClinGen ExAC gnomAD
CA7129530 rs374883618	81	G>R	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374883618	81	G>R	No	1000Genomes ESP ExAC TOPMed gnomAD
rs1385850532	82	T>I	No	TOPMed
rs1385850532 CA389327873	82	T>I	No	ClinGen TOPMed
rs772101723	82	T>P	No	ExAC gnomAD
CA7129527 rs772101723	82	T>P	No	ClinGen ExAC gnomAD
rs576790627	84	S>A	No	1000Genomes ExAC gnomAD
CA7129526 rs576790627	84	S>A	No	ClinGen 1000Genomes ExAC gnomAD
rs1383821381 CA389327855	85	T>I	No	ClinGen TOPMed
rs1383821381	85	T>I	No	TOPMed
rs771177184 CA7129523	90	R>C	No	ClinGen ExAC gnomAD
rs771177184	90	R>C	No	ExAC gnomAD
rs1394432466	90	R>H	No	TOPMed gnomAD
CA389327822 rs1394432466	90	R>H	No	ClinGen TOPMed gnomAD
rs749603690 CA7129522	91	E>*	No	ClinGen ExAC
rs749603690	91	E>*	No	ExAC
rs778044294	92	A>S	No	ExAC TOPMed
CA257896766 rs778044294	92	A>S	No	ClinGen ExAC TOPMed
CA7129521 rs778044294	92	A>T	No	ClinGen ExAC TOPMed
rs778044294	92	A>T	No	ExAC TOPMed
CA7129520 rs370939325	93	I>T	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370939325	93	I>T	No	1000Genomes ESP ExAC TOPMed gnomAD
rs748665711	94	E>K	No	ExAC gnomAD
CA7129519 rs748665711	94	E>K	No	ClinGen ExAC gnomAD
rs375962047 CA257896755	96	A>D	No	ClinGen Ensembl
rs375962047	96	A>D	No	Ensembl
rs1199904250	97	T>A	No	TOPMed gnomAD
rs1199904250 CA389327782	97	T>A	No	ClinGen TOPMed gnomAD
CA257896754 rs780740011	97	T>I	No	ClinGen ExAC TOPMed gnomAD
rs780740011	97	T>I	No	ExAC TOPMed gnomAD
rs780740011	97	T>S	No	ExAC TOPMed gnomAD
rs780740011 CA7129518	97	T>S	No	ClinGen ExAC TOPMed gnomAD
rs534511022	98	T>A	No	1000Genomes ExAC gnomAD
CA7129517 rs534511022	98	T>A	No	ClinGen 1000Genomes ExAC gnomAD
CA389327773 rs1483548351	99	N>D	No	ClinGen gnomAD
rs1483548351	99	N>D	No	gnomAD
rs751117443 CA7129516	100	A>G	No	ClinGen ExAC gnomAD
rs751117443	100	A>G	No	ExAC gnomAD
rs1280258982	100	A>S	No	gnomAD
CA389327766 rs1280258982	100	A>S	No	ClinGen gnomAD
rs1346592613	103	L>F	No	TOPMed gnomAD
CA389327745 rs1346592613	103	L>F	No	ClinGen TOPMed gnomAD
rs145600912	104	R>C	No	1000Genomes ESP ExAC TOPMed gnomAD
CA7129515 rs145600912	104	R>C	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145806351 CA7129513	104	R>H	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145806351	104	R>H	No	1000Genomes ESP ExAC TOPMed gnomAD
rs145806351	104	R>P	No	1000Genomes ESP ExAC TOPMed gnomAD
rs145806351 CA7129514	104	R>P	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1410210575	106	M>I	No	gnomAD
CA389327727 rs1410210575	106	M>I	No	ClinGen gnomAD
rs1194654619	106	M>T	No	TOPMed
CA389327729 rs1194654619	106	M>T	No	ClinGen TOPMed
rs555204117	106	M>V	No	1000Genomes ExAC TOPMed gnomAD
CA7129512 rs555204117	106	M>V	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs538400003 CA7129510	107	E>A	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs538400003	107	E>A	No	1000Genomes ExAC TOPMed gnomAD
rs141941051 CA7129511	107	E>K	No	ClinGen ESP ExAC TOPMed gnomAD
rs141941051	107	E>K	No	ESP ExAC TOPMed gnomAD
rs141941051 CA389327724	107	E>Q	No	ClinGen ESP ExAC TOPMed gnomAD
rs141941051	107	E>Q	No	ESP ExAC TOPMed gnomAD
rs371123322 CA7129509	109	A>V	No	ClinGen ESP ExAC TOPMed gnomAD
rs371123322	109	A>V	No	ESP ExAC TOPMed gnomAD
rs1455433984 CA389327707	110	A>T	No	ClinGen TOPMed
rs1455433984	110	A>T	No	TOPMed
rs1173258513	116	A>S	No	gnomAD
rs1173258513 CA389327658	116	A>S	No	ClinGen gnomAD
rs1469657762	117	Y>C	No	TOPMed gnomAD
CA389327650 rs1469657762	117	Y>C	No	ClinGen TOPMed gnomAD
rs373027314	118	Q>*	No	ExAC TOPMed gnomAD
rs373027314 CA7129508	118	Q>*	No	ClinGen ExAC TOPMed gnomAD
rs373027314 CA389327645	118	Q>E	No	ClinGen ExAC TOPMed gnomAD
rs373027314	118	Q>E	No	ExAC TOPMed gnomAD
rs1184543755	119	D>H	No	gnomAD
rs1184543755 CA389327638	119	D>H	No	ClinGen gnomAD
rs766509120	120	M>I	No	ExAC gnomAD
CA7129486 rs766509120	120	M>I	No	ClinGen ExAC gnomAD
rs373464425	122	I>T	No	ESP ExAC TOPMed gnomAD
rs373464425 CA7129485	122	I>T	No	ClinGen ESP ExAC TOPMed gnomAD
rs199498643	123	D>N	No	ESP ExAC TOPMed gnomAD
rs199498643 CA7129484	123	D>N	No	ClinGen ESP ExAC TOPMed gnomAD
CA257896435 rs199498643	123	D>Y	No	ClinGen ESP ExAC TOPMed gnomAD
rs199498643	123	D>Y	No	ESP ExAC TOPMed gnomAD
CA389327581 rs1162859213	124	K>R	No	ClinGen gnomAD
rs1162859213	124	K>R	No	gnomAD
rs1391850402	126	D>V	No	TOPMed
rs1391850402 CA389327554	126	D>V	No	ClinGen TOPMed
rs147600552	129	M>I	No	ESP ExAC TOPMed gnomAD
rs147600552 CA7129481	129	M>I	No	ClinGen ESP ExAC TOPMed gnomAD
rs762042465	129	M>R	No	ExAC TOPMed gnomAD
CA7129483 rs762042465	129	M>R	No	ClinGen ExAC TOPMed gnomAD
rs762042465	129	M>T	No	ExAC TOPMed gnomAD
rs762042465 CA7129482	129	M>T	No	ClinGen ExAC TOPMed gnomAD
rs769256837	132	I>T	No	ExAC gnomAD
rs769256837 CA7129480	132	I>T	No	ClinGen ExAC gnomAD
rs1448186476	132	I>V	No	gnomAD
CA389327488 rs1448186476	132	I>V	No	ClinGen gnomAD
CA7129479 rs145119541	133	T>M	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145119541	133	T>M	No	1000Genomes ESP ExAC TOPMed gnomAD
rs771651000	134	E>G	No	ExAC gnomAD
rs771651000 CA7129477	134	E>G	No	ClinGen ExAC gnomAD
rs117552046	136	Q>*	No	1000Genomes ESP ExAC TOPMed gnomAD
rs117552046 CA7129476	136	Q>*	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7129475 rs778393755	136	Q>H	No	ClinGen ExAC TOPMed gnomAD
rs778393755	136	Q>H	No	ExAC TOPMed gnomAD
rs749017330	141	Q>H	No	ExAC gnomAD
CA7129473 rs749017330	141	Q>H	No	ClinGen ExAC gnomAD
rs1348752985	141	Q>R	No	TOPMed
rs1348752985 CA389327373	141	Q>R	No	ClinGen TOPMed
rs777582416 CA7129472	142	I>M	No	ClinGen ExAC gnomAD
rs777582416	142	I>M	No	ExAC gnomAD
CA389327333 rs371942693	144	D>E	No	ClinGen ESP ExAC TOPMed gnomAD
rs371942693	144	D>E	No	ESP ExAC TOPMed gnomAD
rs375056533 CA7129471	144	D>G	No	ClinGen ESP ExAC TOPMed gnomAD
rs375056533	144	D>G	No	ESP ExAC TOPMed gnomAD
rs375056533	144	D>V	No	ESP ExAC TOPMed gnomAD
CA7129470 rs375056533	144	D>V	No	ClinGen ESP ExAC TOPMed gnomAD
rs151089933 CA7129467	148	R>Q	No	ClinGen ESP ExAC TOPMed gnomAD
rs151089933	148	R>Q	No	ESP ExAC TOPMed gnomAD
rs758343224	148	R>W	No	ExAC TOPMed gnomAD
CA7129468 rs758343224	148	R>W	No	ClinGen ExAC TOPMed gnomAD
rs1438029866	150	M>K	No	TOPMed
CA389327298 rs1438029866	150	M>K	No	ClinGen TOPMed
rs371342323	150	M>L	No	ESP ExAC TOPMed gnomAD
rs371342323 CA7129466	150	M>L	No	ClinGen ESP ExAC TOPMed gnomAD
CA7129465 rs371342323	150	M>V	No	ClinGen ESP ExAC TOPMed gnomAD
rs371342323	150	M>V	No	ESP ExAC TOPMed gnomAD
rs754252657	151	G>V	No	ExAC gnomAD
CA7129464 rs754252657	151	G>V	No	ClinGen ExAC gnomAD
VAR_023384 CA7129462 rs2295322	153	G>R	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2295322	153	G>R	No	1000Genomes ESP ExAC TOPMed gnomAD
rs1594469418	154	D>N	No	Ensembl
CA389327275 rs1594469418	154	D>N	No	ClinGen Ensembl
rs1169721543	155	D>Y	No	gnomAD
rs1169721543 CA389327268	155	D>Y	No	ClinGen gnomAD
rs757409020	160	E>A	No	ExAC TOPMed gnomAD
CA7129444 rs757409020	160	E>A	No	ClinGen ExAC TOPMed gnomAD
rs754056488	161	L>R	No	ExAC gnomAD
rs754056488 CA7129443	161	L>R	No	ClinGen ExAC gnomAD
rs761084506	168	L>P	No	ExAC TOPMed gnomAD
rs761084506 CA7129441	168	L>P	No	ClinGen ExAC TOPMed gnomAD
rs764417489 CA7129442	168	L>V	No	ClinGen ExAC gnomAD
rs764417489	168	L>V	No	ExAC gnomAD
rs753138859 CA7129439	169	E>K	No	ClinGen ExAC gnomAD
rs753138859	169	E>K	No	ExAC gnomAD
CA389327137 rs1288026756	172	E>K	No	ClinGen gnomAD
rs1288026756	172	E>K	No	gnomAD
rs760132790	173	L>M	No	ExAC gnomAD
CA7129437 rs760132790	173	L>M	No	ClinGen ExAC gnomAD
rs773725812	174	A>T	No	ExAC gnomAD
CA7129436 rs773725812	174	A>T	No	ClinGen ExAC gnomAD
CA7129435 rs148589696	176	E>G	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148589696	176	E>G	No	1000Genomes ESP ExAC TOPMed gnomAD
CA7129433 rs772780946	179	N>K	No	ClinGen ExAC gnomAD
rs772780946	179	N>K	No	ExAC gnomAD
rs762459227 CA7129434	179	N>S	No	ClinGen ExAC gnomAD
rs762459227	179	N>S	No	ExAC gnomAD
rs1368954055	180	V>A	No	TOPMed
CA389327081 rs1368954055	180	V>A	No	ClinGen TOPMed
rs1305039283 CA389327083	180	V>M	No	ClinGen TOPMed gnomAD
rs1305039283	180	V>M	No	TOPMed gnomAD
CA257896163 rs1037307556	182	D>N	No	ClinGen gnomAD
rs1037307556	182	D>N	No	gnomAD
rs747889785 CA7129431	184	E>K	No	ClinGen ExAC TOPMed gnomAD
rs747889785	184	E>K	No	ExAC TOPMed gnomAD
rs1458457056	185	E>A	No	TOPMed gnomAD
CA389327047 rs1458457056	185	E>A	No	ClinGen TOPMed gnomAD
rs146389065	186	E>Q	No	ESP
CA257896155 rs146389065	186	E>Q	No	ClinGen ESP
rs781087736	187	P>A	No	ExAC TOPMed
rs781087736 CA7129430	187	P>A	No	ClinGen ExAC TOPMed
rs768445146 CA7129428	190	K>E	No	ClinGen ExAC gnomAD
rs768445146	190	K>E	No	ExAC gnomAD
rs1414990338	195	P>S	No	gnomAD
rs1414990338 CA389326985	195	P>S	No	ClinGen gnomAD
rs1258201720	197	T>A	No	gnomAD
CA389326972 rs1258201720	197	T>A	No	ClinGen gnomAD
rs76444629	198	H>Y	No	1000Genomes ESP ExAC TOPMed gnomAD
CA7129425 rs76444629	198	H>Y	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs910438479 CA257896117	199	L>P	No	ClinGen Ensembl
rs910438479	199	L>P	No	Ensembl
CA7129424 rs377089196	200	P>L	No	ClinGen ESP ExAC TOPMed gnomAD
rs377089196	200	P>L	No	ESP ExAC TOPMed gnomAD
CA389326948 rs1331512011	201	A>V	No	ClinGen gnomAD
rs1331512011	201	A>V	No	gnomAD
rs1268956735 CA389326944	202	G>R	No	ClinGen gnomAD
rs1268956735	202	G>R	No	gnomAD
CA7129407 rs749360328	204	A>G	No	ClinGen ExAC gnomAD
rs749360328	204	A>G	No	ExAC gnomAD
CA389326933 rs1594469195	204	A>P	No	ClinGen Ensembl
rs1594469195	204	A>P	No	Ensembl
CA7129408 rs749360328	204	A>V	No	ClinGen ExAC gnomAD
rs749360328	204	A>V	No	ExAC gnomAD
CA7129406 rs143736280	205	P>S	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143736280	205	P>S	No	1000Genomes ESP ExAC TOPMed gnomAD
rs1353153654	206	K>E	No	gnomAD
rs1353153654 CA389325939	206	K>E	No	ClinGen gnomAD
rs756403727	206	K>N	No	ExAC gnomAD
rs756403727 CA7129405	206	K>N	No	ClinGen ExAC gnomAD
rs1322556245 CA389325891	208	D>G	No	ClinGen gnomAD
rs1322556245	208	D>G	No	gnomAD
rs748457977 CA7129404	208	D>H	No	ClinGen ExAC gnomAD
rs748457977	208	D>H	No	ExAC gnomAD
rs371017683	209	E>K	No	Ensembl
CA257895883 rs371017683	209	E>K	No	ClinGen Ensembl
rs1384686477	210	D>G	No	gnomAD
rs1384686477 CA389325847	210	D>G	No	ClinGen gnomAD
CA389325761 rs1392681413	213	A>V	No	ClinGen TOPMed gnomAD
rs1392681413	213	A>V	No	TOPMed gnomAD
rs1293919805 CA389325692	218	A>P	No	ClinGen gnomAD
rs1293919805	218	A>P	No	gnomAD
rs537771236	218	A>V	No	1000Genomes ExAC gnomAD
CA7129402 rs537771236	218	A>V	No	ClinGen 1000Genomes ExAC gnomAD
rs755299003 CA7129400	220	W>*	No	ClinGen ExAC gnomAD
CA389325637 rs1390856419	220	W>*	No	ClinGen gnomAD
rs1390856419	220	W>*	No	gnomAD
rs755299003	220	W>*	No	ExAC gnomAD
CA389325638 rs1390856419	220	W>C	No	ClinGen gnomAD
rs1390856419	220	W>C	No	gnomAD
rs1007849983 CA257895873	222	S>P	No	ClinGen TOPMed
rs1007849983	222	S>P	No	TOPMed
rs1198467833 CA389325585	223	S>W	No	ClinGen gnomAD
rs1198467833	223	S>W	No	gnomAD

No associated diseases with Q9BY43

No regional properties for Q9BY43

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9BY43

Functions

		Description
EC Number
Subcellular Localization	Cytoplasmic vesicle membrane Late endosome membrane ; Peripheral membrane protein	Membrane-associated Localizes to large vesicle-like structures Localizes to the midbody of dividing cells Localized in two distinct rings on either side of the Fleming body
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

16 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.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoplasmic side of plasma membrane	The leaflet the plasma membrane that faces the cytoplasm and any proteins embedded or anchored in it or attached to its surface.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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).
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 coat	Any of several different proteinaceous coats that can associate with membranes. Membrane coats include those formed by clathrin plus an adaptor complex, the COPI and COPII complexes, and possibly others. They are found associated with membranes on many vesicles as well as other membrane features such as pits and perhaps tubules.
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.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

4 GO annotations of molecular function

Name	Definition
ATPase binding	Binding to an ATPase, any enzyme that catalyzes the hydrolysis of ATP.
identical protein binding	Binding to an identical protein or proteins.
lipid binding	Binding to a lipid.
protein homodimerization activity	Binding to an identical protein to form a homodimer.

24 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.
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.
membrane invagination	The infolding of a membrane.
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 autophagosome assembly	Any process that stops, prevents or reduces the frequency, rate or extent of autophagosome assembly.
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 neuron death	Any process that stops, prevents or reduces the frequency, rate or extent of neuron death.
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.
plasma membrane tubulation	A membrane tubulation process occurring in a plasma membrane.
posttranslational protein targeting to endoplasmic reticulum membrane	The targeting of proteins to a membrane that occurs after their translation. Some secretory proteins exhibit posttranslational transport into the endoplasmic reticulum (ER) lumen: they are synthesized in their entirety on free cytosolic ribosomes and then released into the cytosol, where they are bound by chaperones which keep them in an unfolded state, and subsequently are translocated across the ER membrane.
protein polymerization	The process of creating protein polymers, compounds composed of a large number of component monomers; polymeric proteins may be made up of different or identical monomers. Polymerization occurs by the addition of extra monomers to an existing poly- or oligomeric protein.
regulation of mitotic spindle assembly	Any process that modulates the frequency, rate or extent of mitotic spindle assembly.
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.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q96FZ7	CHMP6	Charged multivesicular body protein 6	Homo sapiens (Human)	SS
Q9D7F7	Chmp4c	Charged multivesicular body protein 4c	Mus musculus (Mouse)	SS
Q9D8B3	Chmp4b	Charged multivesicular body protein 4b	Mus musculus (Mouse)	SS
Q569C1	Chmp4c	Charged multivesicular body protein 4c	Rattus norvegicus (Rat)	SS

10	20	30	40	50	60
MSGLGRLFGK	GKKEKGPTPE	EAIQKLKETE	KILIKKQEFL	EQKIQQELQT	AKKYGTKNKR
70	80	90	100	110	120
AALQALRRKK	RFEQQLAQTD	GTLSTLEFQR	EAIENATTNA	EVLRTMELAA	QSMKKAYQDM
130	140	150	160	170	180
DIDKVDELMT	DITEQQEVAQ	QISDAISRPM	GFGDDVDEDE	LLEELEELEQ	EELAQELLNV
190	200	210	220
GDKEEEPSVK	LPSVPSTHLP	AGPAPKVDED	EEALKQLAEW	VS