AiPD: Autoinhibited Protein Database

Q99816

Gene name	TSG101
Protein name	Tumor susceptibility gene 101 protein
Names	ESCRT-I complex subunit TSG101
Species	Homo sapiens (Human)
KEGG Pathway	hsa:7251
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

175-257 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

175-257 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

22 structures for Q99816

Entry ID	Method	Resolution	Chain	Position	Source
1KPP	NMR	-	A	1-145	PDB
1KPQ	NMR	-	A	1-145	PDB
1M4P	NMR	-	A	1-145	PDB
1M4Q	NMR	-	A	1-145	PDB
1S1Q	X-ray	200 A	A/C	1-145	PDB
2F0R	X-ray	226 A	A/B	1-145	PDB
3IV1	X-ray	250 A	A/B/C/D/E/F/G/H	229-304	PDB
3OBQ	X-ray	140 A	A	2-145	PDB
3OBS	X-ray	150 A	A	2-145	PDB
3OBU	X-ray	160 A	A	2-145	PDB
3OBX	X-ray	160 A	A	2-145	PDB
3P9G	X-ray	180 A	A	2-145	PDB
3P9H	X-ray	180 A	A	2-145	PDB
4EJE	X-ray	220 A	A/B	1-145	PDB
4YC1	X-ray	200 A	A/B/C	1-145	PDB
4ZNY	X-ray	240 A	A	4-145	PDB
5VKG	NMR	-	A	2-145	PDB
6UD0	NMR	-	C	1-145	PDB
6VME	X-ray	219 A	B/F/G/H/I/J	308-388	PDB
7NLC	X-ray	140 A	A	1-145	PDB
7ZLX	X-ray	225 A	A/B/C/D/E/F/G/H/I/J/K/L	1-145	PDB
AF-Q99816-F1	Predicted				AlphaFoldDB

239 variants for Q99816

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA5912490 rs771813710	2	A>T		No	ClinGen ExAC gnomAD
rs758942038 CA5912489	2	A>V		No	ClinGen ExAC TOPMed gnomAD
CA218617965 rs555078037	3	V>G		No	ClinGen 1000Genomes
CA379506008 rs1344277615	3	V>M		No	ClinGen TOPMed
CA5912488 rs773888055	4	S>L		No	ClinGen ExAC gnomAD
rs770811104 CA5912487	6	S>G		No	ClinGen ExAC gnomAD
CA218617943 rs928247570	7	Q>H		No	ClinGen Ensembl
TCGA novel	9	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1393551177 CA379505729	9	K>R		No	ClinGen gnomAD
rs1331054089 CA379505540	11	M>I		No	ClinGen gnomAD
CA379505592 rs1565097977	11	M>T		No	ClinGen Ensembl
rs939811050 CA218617911	12	V>L		No	ClinGen TOPMed
CA379502987 rs754026084	16	K>R		No	ClinGen ExAC gnomAD
CA5912458 rs754026084	16	K>T		No	ClinGen ExAC gnomAD
TCGA novel	17	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379502885 rs1373623245	21	T>A		No	ClinGen TOPMed gnomAD
TCGA novel	21	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379502863 rs1303996633	22	V>L		No	ClinGen TOPMed
COSM925660 CA5912456 rs145885289	23	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA5912455 rs756680638	23	R>H		No	ClinGen ExAC gnomAD
rs1215354982 CA379502800	25	T>A		No	ClinGen gnomAD
rs1383401304 CA379502782	26	V>I		No	ClinGen TOPMed gnomAD
rs148985120 CA5912454	27	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1356659342 CA379502706	29	I>T		No	ClinGen TOPMed
rs1396693505 CA379502654	31	L>R		No	ClinGen gnomAD
rs903078448 CA218611786	37	P>R		No	ClinGen TOPMed
rs1179366269 CA379502363	41	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs536369381 CA5912426	46	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs760521615 CA5912425	47	G>S		No	ClinGen ExAC TOPMed gnomAD
CA5912423 rs771235956	48	S>C		No	ClinGen ExAC TOPMed gnomAD
CA379501022 rs771235956	48	S>G		No	ClinGen ExAC TOPMed gnomAD
CA379500941 rs1196499360	53	M>K		No	ClinGen TOPMed
rs1357238696 CA379500873	56	T>I		No	ClinGen TOPMed gnomAD
CA379500876 rs1357238696	56	T>S		No	ClinGen TOPMed gnomAD
TCGA novel	57	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5912422 rs749544931	60	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	63	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1352686979	65	G>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA5912399 rs776724004	66	N>D		No	ClinGen ExAC
rs201989230 CA5912396	77	L>M		No	ClinGen ExAC gnomAD
rs1590286454 CA379500194	80	Y>*		No	ClinGen Ensembl
rs772477933 CA5912395	80	Y>C		No	ClinGen ExAC gnomAD
CA218607961 rs935113765	80	Y>H		No	ClinGen TOPMed
CA379500153 rs1236600553	82	Y>C		No	ClinGen gnomAD
rs1362732645 CA379500081	84	P>L		No	ClinGen gnomAD
rs1565093625 CA379500044	86	I>V		No	ClinGen Ensembl
rs1590286431 CA379499847	90	K>*		No	ClinGen Ensembl
CA379499708 rs1378891050	93	S>T		No	ClinGen gnomAD
rs1373529767 CA379499591	96	T>I		No	ClinGen TOPMed
rs1235461376 CA379499426	102	H>L		No	ClinGen TOPMed
CA5912391 rs753354951	103	V>I		No	ClinGen ExAC TOPMed gnomAD
CA5912389 rs756055031	105	A>G		No	ClinGen ExAC gnomAD
rs1216914430 CA379499356	106	N>H		No	ClinGen gnomAD
CA379499264 rs1285702387	109	I>V		No	ClinGen TOPMed
CA5912387 rs767623706	110	Y>C		No	ClinGen ExAC gnomAD
CA379499177 rs1312767639	113	Y>H		No	ClinGen gnomAD
TCGA novel	114	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1049867581 CA218607855	116	E>D		No	ClinGen gnomAD
rs201202252 CA379499036 CA5912384	119	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	119	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379496754 rs1423986962	121	Q>R		No	ClinGen gnomAD
rs1162404345 CA379496679	125	L>W		No	ClinGen TOPMed
CA5912361 rs764355865	126	G>E		No	ClinGen ExAC gnomAD
CA5912362 rs754053197	126	G>R		No	ClinGen ExAC gnomAD
CA218604175 rs758020891	129	Q>H		No	ClinGen Ensembl
CA5912359 rs775586204	130	V>I		No	ClinGen ExAC gnomAD
CA379496504 rs1198134846	131	M>I		No	ClinGen gnomAD
rs768025271 CA5912358	132	I>T		No	ClinGen ExAC TOPMed gnomAD
CA379496347 rs1267249517	137	D>E		No	ClinGen gnomAD
rs1252484174 CA379496342	138	E>A		No	ClinGen gnomAD
rs1590283345 CA379496332	138	E>D		No	ClinGen Ensembl
CA379496320 rs1439754640	139	P>T		No	ClinGen TOPMed
CA379496277 rs1311291749	142	F>I		No	ClinGen TOPMed
CA379496177 rs1245840807	144	R>C		No	ClinGen gnomAD
CA5912357 rs376545696	144	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA218604160 rs1043537350	146	I>V		No	ClinGen TOPMed gnomAD
rs140156278 CA5912354	147	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA5912355 rs771200455	147	S>P		No	ClinGen ExAC gnomAD
rs147795922 CA5912352	151	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1164415875 CA379496065	151	P>S		No	ClinGen gnomAD
rs754887074 CA5912349	156	T>A		No	ClinGen ExAC TOPMed gnomAD
rs746926397 CA5912348	156	T>M		No	ClinGen ExAC gnomAD
rs758174886 CA5912346	157	G>E		No	ClinGen ExAC gnomAD
rs764269969 CA379495886	159	P>A		No	ClinGen ExAC TOPMed gnomAD
CA5912344 rs764269969	159	P>T		No	ClinGen ExAC TOPMed gnomAD
rs756358482 CA5912343	160	N>S		No	ClinGen ExAC TOPMed gnomAD
CA379495819 rs1242825369	161	T>A		No	ClinGen gnomAD
CA379494808 rs1401471348	162	S>Y		No	ClinGen gnomAD
CA5912316 rs750759202	164	M>L		No	ClinGen ExAC gnomAD
rs750759202 CA5912317	164	M>V		No	ClinGen ExAC gnomAD
CA379494713 rs1297423960	165	P>A		No	ClinGen gnomAD
rs765702652 CA5912315	166	G>V		No	ClinGen ExAC TOPMed gnomAD
VAR_034572 rs34385327 CA5912314	167	M>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA379494586 rs1264537011	168	P>S		No	ClinGen TOPMed
rs190177164 CA5912311	169	G>D		No	ClinGen 1000Genomes ExAC gnomAD
CA5912312 rs768401560	169	G>S		No	ClinGen ExAC
CA379494431 rs1195860189	172	S>F		No	ClinGen TOPMed gnomAD
rs775095576 CA5912309	172	S>P		No	ClinGen ExAC gnomAD
CA218602198 rs919904441	175	P>L		No	ClinGen TOPMed gnomAD
rs1565090508 CA379494298	176	S>A		No	ClinGen Ensembl
CA5912306 rs778609527	177	G>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	179	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5912304 rs749162548	181	N>H		No	ClinGen ExAC TOPMed gnomAD
rs142658759 CA5912303	181	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs202060916 CA5912290	185	Y>*		No	ClinGen ExAC gnomAD
rs200933195 CA218598913	185	Y>H		No	ClinGen 1000Genomes
CA379493042 rs1590279356	185	Y>S		No	ClinGen Ensembl
rs759110432 CA5912288	186	P>L		No	ClinGen ExAC gnomAD
rs771571606 CA5912289	186	P>S		No	ClinGen ExAC gnomAD
rs770897314 CA5912286	187	G>S		No	ClinGen ExAC gnomAD
CA5912284 rs773085686	188	C>G		No	ClinGen ExAC
rs1163080649 CA379492983	188	C>S		No	ClinGen gnomAD
CA5912283 rs536807993	189	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs949014167 CA218598832	190	Y>S		No	ClinGen Ensembl
rs575920219 CA5912282	192	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs575920219 CA218598815	192	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1179850497 CA379492868	193	G>A		No	ClinGen TOPMed gnomAD
rs1297788215 CA379492897	193	G>S		No	ClinGen TOPMed
CA5912281 rs780491720	195	P>A		No	ClinGen ExAC gnomAD
rs758539923 CA5912280	196	Y>H		No	ClinGen ExAC gnomAD
CA218598776 rs991151647	201	S>N		No	ClinGen Ensembl
CA379492679 rs1203147539	202	S>F		No	ClinGen TOPMed
TCGA novel	202	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5912277 rs146129590	204	Y>*		No	ClinGen 1000Genomes ExAC gnomAD
rs1290111886 CA379492645	204	Y>C		No	ClinGen gnomAD
rs1357042788 CA379492590	207	Q>P		No	ClinGen gnomAD
rs148455832 CA5912276	208	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA379492566 rs148455832	208	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1241968605 CA379492546	209	P>S		No	ClinGen TOPMed
CA5912275 rs537917105	213	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA379492469 rs537917105	213	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1264876608 CA379530851	215	P>A		No	ClinGen gnomAD
rs376351223 CA5912243	216	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA5912244 rs376351223	216	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1472971033 CA379530820	217	R>S		No	ClinGen gnomAD
CA5912242 rs772370384	218	D>G		No	ClinGen ExAC gnomAD
rs759851267 CA5912241	220	T>I		No	ClinGen ExAC
CA5912240 rs771039043	221	I>L		No	ClinGen ExAC gnomAD
CA379530772 rs1212155840	221	I>M		No	ClinGen TOPMed gnomAD
rs771039043 CA5912239	221	I>V		No	ClinGen ExAC gnomAD
CA5912237 rs778320305	223	E>K		No	ClinGen ExAC TOPMed gnomAD
CA5912236 rs770241615	224	D>N		No	ClinGen ExAC TOPMed gnomAD
rs997972260 CA379530722	225	T>A		No	ClinGen gnomAD
rs997972260 CA218614533	225	T>P		No	ClinGen gnomAD
rs899940206 CA218614523	227	R>G		No	ClinGen Ensembl
rs771430984 CA5912234	227	R>Q		No	ClinGen ExAC gnomAD
CA5912233 rs754558645	233	A>V		No	ClinGen ExAC gnomAD
rs1405979366 CA379530645	234	V>L		No	ClinGen gnomAD
CA5912227 rs149716557	241	R>Q		No	ClinGen ESP ExAC gnomAD
CA379530592 rs1427485470	241	R>W		No	ClinGen gnomAD
rs933647538 CA218614438	242	M>T		No	ClinGen TOPMed
rs753626745 CA5912226	243	K>E		No	ClinGen ExAC gnomAD
CA5912225 rs763982196	248	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1262394500 CA379530485	248	R>H		No	ClinGen gnomAD
rs1173270552 CA379530473	249	A>V		No	ClinGen TOPMed
CA5912222 rs534405220	254	N>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5912223 rs534405220	254	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	255	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	255	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5912221 rs140101726	261	E>D		No	ClinGen ExAC TOPMed gnomAD
CA379529337 rs1324855170	267	H>Q		No	ClinGen gnomAD
rs1315344902 CA379529322	268	Q>R		No	ClinGen gnomAD
rs1590268727 CA379529249	271	E>A		No	ClinGen Ensembl
CA379529261 rs1381032346	271	E>K		No	ClinGen TOPMed
CA379529166 rs1565080951	275	T>A		No	ClinGen Ensembl
COSM242086 CA5912219 rs770229047	276	R>C	prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs543506105 CA5912218	276	R>H		No	ClinGen ExAC TOPMed gnomAD
rs781714141 CA5912217	279	Q>K		No	ClinGen ExAC gnomAD
rs369798357	282	A>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA5912201 rs535335259	283	E>K		No	ClinGen ExAC TOPMed gnomAD
CA218612354 rs998415995	284	V>F		No	ClinGen Ensembl
CA5912199 rs777104841	285	D>G		No	ClinGen ExAC TOPMed gnomAD
rs775738164 CA5912196	288	I>M		No	ClinGen ExAC gnomAD
rs747361251 CA379527746	288	I>R		No	ClinGen ExAC TOPMed gnomAD
CA5912197 rs747361251	288	I>T		No	ClinGen ExAC TOPMed gnomAD
rs142800175 CA5912198	288	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1219237288 CA379527693	292	K>E		No	ClinGen gnomAD
rs1032005988 CA218612343	293	K>R		No	ClinGen TOPMed
rs1032005988 CA379527668	293	K>T		No	ClinGen TOPMed
TCGA novel	295	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379527523 rs1237452593	302	L>V		No	ClinGen gnomAD
TCGA novel	305	M>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA218612325 rs907928551	305	M>V		No	ClinGen TOPMed gnomAD
rs1590267520 CA379527446	306	E>D		No	ClinGen Ensembl
rs771695222 CA5912195	306	E>G		No	ClinGen ExAC gnomAD
CA218612299 rs904163296	308	Q>H		No	ClinGen TOPMed
rs1225299051 CA379527397	309	S>C		No	ClinGen TOPMed
rs754250254 CA5912194	310	E>K		No	ClinGen ExAC gnomAD
CA5912193 rs778770714	312	N>S		No	ClinGen ExAC TOPMed gnomAD
CA218612272 rs930784017	313	D>N		No	ClinGen TOPMed
CA379527303 rs139478645	314	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5912191 rs201826521	315	D>N		No	ClinGen ExAC TOPMed gnomAD
CA379527281 rs756034420	316	E>*		No	ClinGen ExAC gnomAD
rs756034420 CA5912189	316	E>K		No	ClinGen ExAC gnomAD
rs752481637 CA5912188	317	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1480268729 CA379527187	321	T>A		No	ClinGen TOPMed gnomAD
rs767709099 CA218612153	322	A>S		No	ClinGen ExAC TOPMed gnomAD
rs767709099 CA5912186	322	A>T		No	ClinGen ExAC TOPMed gnomAD
rs761853544 CA5912183	325	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	332	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs939506913 CA218612134	333	A>V		No	ClinGen Ensembl
CA5912180 rs764538057	337	A>T		No	ClinGen ExAC gnomAD
rs1401411662 CA379526874	338	I>T		No	ClinGen TOPMed gnomAD
CA379526881 rs1280952066	338	I>V		No	ClinGen gnomAD
TCGA novel	340	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1317299402 CA379526819	341	T>A		No	ClinGen gnomAD
CA379526804 rs1161732188	342	I>L		No	ClinGen gnomAD
rs17849606 CA218612098	343	F>L		No	ClinGen Ensembl
CA5912178 rs775854339	343	F>Y		No	ClinGen ExAC gnomAD
rs575115914 CA5912177	352	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770747339 COSM147157 CA5912174	353	V>M	stomach [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA218612038 CA379526545 rs375711754	354	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5912172 rs375711754	354	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1221148491 CA379526479	356	L>P		No	ClinGen TOPMed
COSM428785 CA379526468 rs1264013502	357	D>N	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
TCGA novel	360	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379526017 rs1305590093	363	V>I		No	ClinGen gnomAD
CA5912151 rs770655752	364	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs762700904 CA5912150	364	R>P		No	ClinGen ExAC gnomAD
TCGA novel	366	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769174649 COSM129937 CA5912148	368	R>C	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs747744055 CA5912147	368	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1804795 CA218610967	374	R>G		No	ClinGen Ensembl
rs768673433 CA5912144	375	A>T		No	ClinGen ExAC gnomAD
CA379525631 rs1590266706	377	M>T		No	ClinGen Ensembl
CA379525593 rs1255278218	378	Q>R		No	ClinGen Ensembl
rs944495203 CA218610951	380	A>E		No	ClinGen TOPMed
CA5912143 rs367779669	380	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1178478105 CA379525486	382	K>E		No	ClinGen gnomAD
TCGA novel	384	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5912138 rs756122505	385	G>R		No	ClinGen ExAC TOPMed gnomAD
CA5912139 rs756122505	385	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1202007911 CA379525341	387	S>N		No	ClinGen TOPMed gnomAD
rs1202007911 CA379525338	387	S>T		No	ClinGen TOPMed gnomAD
CA218610882 rs74815351	388	D>E		No	ClinGen Ensembl
rs80292142 CA218610887	388	D>G		No	ClinGen Ensembl
rs866807336 CA218610906	388	D>N		No	ClinGen Ensembl
rs11542667 CA218610855	389	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5912137 rs752861793	390	Y>C		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q99816

4 regional properties for Q99816

Type	Name	Position	InterPro Accession
domain	Signal recognition particle, SRP54 subunit, GTPase domain	101 - 297	IPR000897
domain	AAA+ ATPase domain	100 - 278	IPR003593
domain	Signal recognition particle, SRP54 subunit, M-domain	329 - 428	IPR004125
domain	Signal recognition particle SRP54, helical bundle	2 - 87	IPR013822

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Early endosome membrane ; Peripheral membrane protein ; Cytoplasmic side Late endosome membrane ; Peripheral membrane protein Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Midbody, Midbody ring Nucleus	Mainly cytoplasmic Membrane-associated when active and soluble when inactive Nuclear localization is cell cycle-dependent Interaction with CEP55 is required for localization to the midbody during cytokinesis
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

15 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
early endosome	A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways.
early endosome membrane	The lipid bilayer surrounding an early endosome.
endosome	A vacuole to which materials ingested by endocytosis are delivered.
endosome membrane	The lipid bilayer surrounding an endosome.
ESCRT I complex	An endosomal sorting complex required for transport. It consists of the class E vacuolar protein sorting (Vps) proteins and interacts with ubiquitinated cargoes.
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.
Flemming body	A cell part that is the central region of the midbody characterized by a gap in alpha-tubulin staining. It is a dense structure of antiparallel microtubules from the central spindle in the middle of the intercellular bridge.
late endosome	A prelysosomal endocytic organelle differentiated from early endosomes by lower lumenal pH and different protein composition. Late endosomes are more spherical than early endosomes and are mostly juxtanuclear, being concentrated near the microtubule organizing center.
late endosome membrane	The lipid bilayer surrounding a late endosome.
microtubule organizing center	An intracellular structure that can catalyze gamma-tubulin-dependent microtubule nucleation and that can anchor microtubules by interacting with their minus ends, plus ends or sides.
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.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

9 GO annotations of molecular function

Name	Definition
calcium-dependent protein binding	Binding to a protein or protein complex in the presence of calcium.
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
nuclear receptor coactivator activity	A transcription coactivator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound nuclear receptor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coregulators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator.
protein homodimerization activity	Binding to an identical protein to form a homodimer.
protein-containing complex binding	Binding to a macromolecular complex.
transcription corepressor activity	A transcription coregulator activity that represses or decreases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Corepressors often act by altering chromatin structure and modifications. For example, one class of transcription corepressors modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators.
ubiquitin binding	Binding to ubiquitin, a protein that when covalently bound to other cellular proteins marks them for proteolytic degradation.
ubiquitin protein ligase binding	Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins.
virion binding	Binding to a virion, either by binding to components of the capsid or the viral envelope.

27 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.
cell cycle	The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division.
cell division	The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells.
endosome to lysosome transport	The directed movement of substances from endosomes to lysosomes.
exosomal secretion	The process whereby a membrane-bounded vesicle is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane.
extracellular transport	The transport of substances that occurs outside cells.
keratinocyte differentiation	The process in which a relatively unspecialized cell acquires specialized features of a keratinocyte.
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 fission	A process that is carried out at the cellular level which results in the separation of a single continuous membrane into two membranes.
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.
negative regulation of cell population proliferation	Any process that stops, prevents or reduces the rate or extent of cell proliferation.
negative regulation of epidermal growth factor receptor signaling pathway	Any process that stops, prevents, or reduces the frequency, rate or extent of epidermal growth factor receptor signaling pathway activity.
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.
negative regulation of transcription by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
positive regulation of exosomal secretion	Any process that activates or increases the frequency, rate or extent of exosomal secretion.
positive regulation of ubiquitin-dependent endocytosis	Any process that activates or increases the frequency, rate or extent of ubiquitin-dependent endocytosis.
positive regulation of viral budding via host ESCRT complex	Any process that activates or increases the frequency, rate or extent of viral budding via host ESCRT complex.
protein monoubiquitination	Addition of a single ubiquitin group to a protein.
protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	The process of directing proteins towards the vacuole that contributes to protein catabolism via the multivesicular body (MVB) pathway.
regulation of cell cycle	Any process that modulates the rate or extent of progression through the cell cycle.
regulation of cell growth	Any process that modulates the frequency, rate, extent or direction of cell growth.
regulation of extracellular exosome assembly	Any process that modulates the frequency, rate or extent of extracellular vesicular exosome assembly.
regulation of MAP kinase activity	Any process that modulates the frequency, rate or extent of MAP kinase activity.
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.
viral budding	A viral process by which enveloped viruses acquire a host-derived membrane enriched in viral proteins to form their external envelope. The process starts when nucleocapsids, assembled or in the process of being built, induce formation of a membrane curvature in the host plasma or organelle membrane and wrap up in the forming bud. The process ends when the bud is eventually pinched off by membrane scission to release the enveloped particle into the lumenal or extracellular space.
viral budding via host ESCRT complex	Viral budding which uses a host ESCRT protein complex, or complexes, to mediate the budding process.
viral release from host cell	The dissemination of mature viral particles from the host cell, e.g. by cell lysis or the budding of virus particles from the cell membrane.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q61187	Tsg101	Tumor susceptibility gene 101 protein	Mus musculus (Mouse)	PR
Q6IRE4	Tsg101	Tumor susceptibility gene 101 protein	Rattus norvegicus (Rat)	PR
Q9FFY6	ELCL	Protein ELC-like	Arabidopsis thaliana (Mouse-ear cress)	PR
Q66KB7	uevld	Ubiquitin-conjugating enzyme E2 variant 3	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR
Q6DBY5	uevld	Ubiquitin-conjugating enzyme E2 variant 3	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MAVSESQLKK	MVSKYKYRDL	TVRETVNVIT	LYKDLKPVLD	SYVFNDGSSR	ELMNLTGTIP
70	80	90	100	110	120
VPYRGNTYNI	PICLWLLDTY	PYNPPICFVK	PTSSMTIKTG	KHVDANGKIY	LPYLHEWKHP
130	140	150	160	170	180
QSDLLGLIQV	MIVVFGDEPP	VFSRPISASY	PPYQATGPPN	TSYMPGMPGG	ISPYPSGYPP
190	200	210	220	230	240
NPSGYPGCPY	PPGGPYPATT	SSQYPSQPPV	TTVGPSRDGT	ISEDTIRASL	ISAVSDKLRW
250	260	270	280	290	300
RMKEEMDRAQ	AELNALKRTE	EDLKKGHQKL	EEMVTRLDQE	VAEVDKNIEL	LKKKDEELSS
310	320	330	340	350	360
ALEKMENQSE	NNDIDEVIIP	TAPLYKQILN	LYAEENAIED	TIFYLGEALR	RGVIDLDVFL
370	380
KHVRLLSRKQ	FQLRALMQKA	RKTAGLSDLY