AiPD: Autoinhibited Protein Database

Q9H9H4

Gene name	VPS37B
Protein name	Vacuolar protein sorting-associated protein 37B
Names	hVps37B, ESCRT-I complex subunit VPS37B
Species	Homo sapiens (Human)
KEGG Pathway	hsa:79720
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

65-140 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

65-140 (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

2 structures for Q9H9H4

Entry ID	Method	Resolution	Chain	Position	Source
6VME	X-ray	219 A	C/K/L/M/N/O	97-167	PDB
AF-Q9H9H4-F1	Predicted				AlphaFoldDB

278 variants for Q9H9H4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA6852805 rs777435923	2	A>V		No	ClinGen ExAC gnomAD
rs1428948449 CA387109470	3	G>S		No	ClinGen TOPMed
CA6852802 rs766904643	4	A>T		No	ClinGen ExAC gnomAD
CA387109456 rs1174749522	5	G>E		No	ClinGen TOPMed
CA387109447 rs1239862118	6	S>R		No	ClinGen gnomAD
CA6852799 rs767941215	6	S>T		No	ClinGen ExAC gnomAD
rs1211538567 COSM1511368 CA387109444	7	E>K	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1409947890 CA387109436	8	A>S		No	ClinGen TOPMed
TCGA novel	9	R>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1231849782 CA387109429	9	R>L		No	ClinGen gnomAD
CA6852798 rs762296816	9	R>W		No	ClinGen ExAC TOPMed gnomAD
rs574348056 CA6852795	11	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs775503483 CA6852794	11	A>V		No	ClinGen ExAC gnomAD
CA6852790 rs770674570	12	G>A		No	ClinGen ExAC gnomAD
rs781131173 CA6852792	12	G>R		No	ClinGen ExAC gnomAD
CA6852791 rs781131173	12	G>W		No	ClinGen ExAC gnomAD
CA6852787 rs777389127	14	S>P		No	ClinGen ExAC gnomAD
CA6852786 rs199843497	16	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA387109381 rs1235131366	18	L>H		No	ClinGen TOPMed
rs200331838 CA6852785	19	N>D		No	ClinGen ExAC TOPMed gnomAD
CA6852784 rs147592834	19	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA387109339 rs1483947394	25	E>K		No	ClinGen gnomAD
CA387109325 rs1221202536	27	Q>K		No	ClinGen TOPMed
rs754535422 CA6852783	29	T>A		No	ClinGen ExAC TOPMed gnomAD
rs200520065 CA6852782	29	T>M		No	ClinGen ExAC TOPMed gnomAD
rs200520065 CA244826229	29	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1332289223 CA387109303	30	E>D		No	ClinGen gnomAD
rs377335603 CA6852781	31	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762249308 CA6852780	36	E>V		No	ClinGen ExAC TOPMed gnomAD
CA244826222 rs1012053774	37	E>V		No	ClinGen TOPMed
TCGA novel	38	T>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs145090807 CA6852745	38	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768415744 CA387105486	39	Q>*		No	ClinGen ExAC gnomAD
rs768415744 CA6852744	39	Q>E		No	ClinGen ExAC gnomAD
CA6852743 rs182186447	42	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA387105456 rs1485585958	43	L>F		No	ClinGen gnomAD
CA244814130 rs574779134	44	N>D		No	ClinGen 1000Genomes
rs755703157 CA6852741	49	L>V		No	ClinGen ExAC TOPMed gnomAD
CA387105405 rs1269190248	50	A>G		No	ClinGen gnomAD
CA387105404 rs1269190248	50	A>V		No	ClinGen gnomAD
TCGA novel	51	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs939946766 CA244814107	52	N>S		No	ClinGen TOPMed
rs747470352 CA6852740	53	R>Q		No	ClinGen ExAC gnomAD
CA387105380 rs1555265210	54	S>T		No	ClinGen Ensembl
CA6852739 rs78208081	55	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1313427330 CA387105360	57	E>D		No	ClinGen gnomAD
CA387105325 rs1373482241	60	L>F		No	ClinGen gnomAD
rs776518751 CA6852736	61	L>W		No	ClinGen ExAC TOPMed gnomAD
rs1397532695 CA387105283	63	Q>H		No	ClinGen gnomAD
CA387105270 rs1167533700	64	P>L		No	ClinGen gnomAD
CA387105257 rs1169333500	65	Q>L		No	ClinGen TOPMed
CA244814080 rs768645964	67	D>H		No	ClinGen TOPMed
rs754071718 CA387105220	68	T>K		No	ClinGen ExAC TOPMed gnomAD
rs754071718 CA6852734	68	T>M		No	ClinGen ExAC TOPMed gnomAD
CA6852730 rs139458326	72	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA6852729 COSM1359699 rs761502771	72	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1593907666 CA387105146	74	T>P		No	ClinGen Ensembl
rs1228387800 CA387105135	75	Q>K		No	ClinGen TOPMed
CA387105079 rs1253251698	78	Q>R		No	ClinGen TOPMed
rs1271916221 CA387105072	79	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1271916221 CA387105074	79	E>Q		No	ClinGen gnomAD
CA6852727 rs112701956	81	Q>L		No	ClinGen ESP ExAC gnomAD
TCGA novel	81	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs112701956 CA244814057	81	Q>R		No	ClinGen ESP ExAC gnomAD
rs147783543 CA6852726	82	V>A		No	ClinGen ExAC TOPMed gnomAD
CA387105021 rs1566124116	83	L>F		No	ClinGen Ensembl
CA387104964 rs1334934800	87	Y>C		No	ClinGen TOPMed gnomAD
CA6852723 rs375929553	88	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs778123572 CA6852722	89	I>K		No	ClinGen ExAC gnomAD
CA387104944 rs1393069946	89	I>L		No	ClinGen gnomAD
rs778123572 CA387104940	89	I>T		No	ClinGen ExAC gnomAD
rs764791543	91	K>missing	Variant assessed as Somatic; 4.627e-05 impact. [NCI-TCGA]	No	NCI-TCGA
rs772700477 CA6852721	91	K>T		No	ClinGen ExAC gnomAD
rs1472621668 CA6852719	92	T>N		No	ClinGen TOPMed gnomAD
rs1472621668 CA387104906	92	T>S		No	ClinGen TOPMed gnomAD
CA244812427 rs541020770	95	D>G		No	ClinGen TOPMed gnomAD
rs541020770 CA244812424	95	D>V		No	ClinGen TOPMed gnomAD
CA387104114 rs1319214238	100	S>R		No	ClinGen TOPMed
CA244812417 rs759752608	103	L>V		No	ClinGen Ensembl
rs1251283913 CA387104071	106	L>P		No	ClinGen TOPMed
rs770358097 CA6852696	108	A>V		No	ClinGen ExAC gnomAD
CA387104053 rs1304523205	109	L>P		No	ClinGen gnomAD
rs1488267167 CA387104056	109	L>V		No	ClinGen TOPMed
rs1233846305 CA387104041	111	Q>R		No	ClinGen gnomAD
CA6852695 rs748635981	112	A>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	116	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1566122958 CA387104008	116	K>R		No	ClinGen Ensembl
rs768977366 CA6852693	117	I>T		No	ClinGen ExAC gnomAD
rs1431511578 CA387104002 COSM1359697	117	I>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1169717350 CA387103998	118	E>K		No	ClinGen TOPMed
CA387103971 rs749701714	121	T>I		No	ClinGen ExAC TOPMed gnomAD
CA6852691 rs749701714	121	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1185570325 CA387103568	125	A>T		No	ClinGen gnomAD
TCGA novel	127	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6852667 rs142055245	128	F>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA387103491 rs781300725	130	D>H		No	ClinGen ExAC gnomAD
rs781300725 CA6852666	130	D>N		No	ClinGen ExAC gnomAD
CA387103479 rs1228987823	130	D>V		No	ClinGen TOPMed
CA387103430 rs1270988676	133	L>F		No	ClinGen gnomAD
rs747110307 CA6852664	133	L>R		No	ClinGen ExAC gnomAD
rs1356690772 CA387103417	134	P>S		No	ClinGen TOPMed gnomAD
CA387103374 rs1293176526	137	S>F		No	ClinGen TOPMed gnomAD
rs1239136724 CA387103340	139	I>T		No	ClinGen TOPMed
rs1566122395 CA387103321	140	D>G		No	ClinGen Ensembl
CA6852662 rs375131471	141	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs375131471 CA6852663	141	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA244809571 rs926221762	142	Y>C		No	ClinGen TOPMed
rs752693215 CA6852661	146	R>Q		No	ClinGen ExAC gnomAD
CA244809557 rs960937060	146	R>W		No	ClinGen TOPMed gnomAD
CA6852659 rs754757199	147	K>Q		No	ClinGen ExAC TOPMed
CA387103172 rs1235973768	148	L>V		No	ClinGen TOPMed
rs372079654 CA6852658	151	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs765995899 CA6852657	152	R>*		No	ClinGen ExAC gnomAD
CA387103092 rs760218716	152	R>L		No	ClinGen ExAC TOPMed gnomAD
rs760218716 CA6852656	152	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1250978175 CA387103070	153	R>Q		No	ClinGen gnomAD
CA387103082 rs1473488251	153	R>W		No	ClinGen TOPMed gnomAD
rs767016393 CA387103001	156	I>M		No	ClinGen ExAC TOPMed gnomAD
CA6852655 rs772774619	156	I>V		No	ClinGen ExAC gnomAD
rs368745161 CA6852652	157	E>D		No	ClinGen ESP ExAC gnomAD
rs1231351679 CA387102997	157	E>K		No	ClinGen TOPMed gnomAD
CA387102942 rs1338864327	159	L>H		No	ClinGen TOPMed
rs746262089 CA6852650	162	M>I		No	ClinGen ExAC gnomAD
CA387102890 rs1273171300	162	M>V		No	ClinGen gnomAD
rs1319186507 CA387102863	163	V>F		No	ClinGen gnomAD
rs1308181572 CA387102850	164	L>V		No	ClinGen gnomAD
CA387102828 rs1391136225	165	K>N		No	ClinGen gnomAD
CA244809495 rs553887703	166	G>E		No	ClinGen Ensembl
CA6852649 CA387102797 rs144828137	168	R>S		No	ClinGen ESP ExAC TOPMed
rs777939759 CA6852646	172	A>D		No	ClinGen ExAC TOPMed gnomAD
rs1375189588 CA387102741	172	A>S		No	ClinGen TOPMed
CA6852647 COSM1733002 rs777939759	172	A>V	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs758570038 CA6852645	173	L>P		No	ClinGen ExAC gnomAD
CA244809446 rs979034406	174	A>G		No	ClinGen TOPMed gnomAD
rs748054933 CA387102700	175	P>A		No	ClinGen ExAC TOPMed gnomAD
rs149409238 CA6852643	175	P>L		No	ClinGen ESP ExAC gnomAD
rs748054933 CA6852644	175	P>S		No	ClinGen ExAC TOPMed gnomAD
CA244809431 rs368784895	177	P>S		No	ClinGen ESP TOPMed gnomAD
CA387102677 rs368784895	177	P>T		No	ClinGen ESP TOPMed gnomAD
rs779751657 CA387102649	178	P>L		No	ClinGen ExAC TOPMed gnomAD
rs779751657 CA6852640	178	P>R		No	ClinGen ExAC TOPMed gnomAD
rs563955118 CA6852641	178	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA6852639 rs755653551	179	R>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	179	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1211837469 CA387102640	179	R>K		No	ClinGen gnomAD
CA387102624 rs1593902629	180	L>M		No	ClinGen Ensembl
TCGA novel	181	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387102592 rs1189848011	182	E>K		No	ClinGen TOPMed
rs1593902600 CA387102567	183	L>P		No	ClinGen Ensembl
rs753171318 CA6852635	184	A>S		No	ClinGen ExAC gnomAD
CA387102542 rs1234574783	185	P>A		No	ClinGen TOPMed gnomAD
CA387102539 rs1234574783	185	P>S		No	ClinGen TOPMed gnomAD
rs1398148403 CA387102526	186	T>A		No	ClinGen TOPMed
rs1398148403 CA387102529	186	T>P		No	ClinGen TOPMed
rs771333680 CA6852632	187	A>D		No	ClinGen ExAC TOPMed gnomAD
rs376677805 CA387102510	187	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376677805 CA387102508	187	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376677805 CA6852633	187	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771333680 CA6852631	187	A>V		No	ClinGen ExAC TOPMed gnomAD
rs559161851 CA6852630	188	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs559161851 CA387102494	188	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772243790 CA387102476	189	L>F		No	ClinGen ExAC TOPMed gnomAD
rs528874754 CA244809271	189	L>P		No	ClinGen 1000Genomes TOPMed
CA6852628 rs772243790	189	L>V		No	ClinGen ExAC TOPMed gnomAD
rs748283809 CA387102431	191	Y>C		No	ClinGen ExAC gnomAD
CA387102442 rs1593902495	191	Y>H		No	ClinGen Ensembl
rs748283809 CA6852627	191	Y>S		No	ClinGen ExAC gnomAD
CA387102418 rs1219814187	192	P>S		No	ClinGen TOPMed
rs768542876 CA6852625	195	E>G		No	ClinGen ExAC gnomAD
rs749251805 CA6852624	199	P>S		No	ClinGen ExAC gnomAD
rs755962117 CA6852622	200	P>S		No	ClinGen ExAC TOPMed gnomAD
CA387102248 rs1555264821	201	A>V		No	ClinGen Ensembl
rs376903190 CA6852620	202	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1485136736 CA387102200	204	P>H		No	ClinGen gnomAD
CA6852618 rs751132025	205	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs543358346 CA6852619	205	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs765772811 CA6852617	206	R>C		No	ClinGen ExAC TOPMed gnomAD
rs201917286 CA6852615	206	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6852616 rs201917286	206	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6852614 rs766610098	207	I>F		No	ClinGen ExAC TOPMed gnomAD
rs766610098 CA387102161	207	I>L		No	ClinGen ExAC TOPMed gnomAD
rs1326489525 CA387102149	207	I>M		No	ClinGen TOPMed gnomAD
rs1296207694 CA387102155	207	I>T		No	ClinGen TOPMed
rs761157980 CA6852613	208	P>H		No	ClinGen ExAC TOPMed gnomAD
CA244809213 rs761157980	208	P>L		No	ClinGen ExAC TOPMed gnomAD
rs761157980 CA387102138	208	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1294849762 CA387102143	208	P>S		No	ClinGen gnomAD
rs774226459 CA6852609	209	P>H		No	ClinGen ExAC TOPMed gnomAD
rs774226459 CA6852610	209	P>L		No	ClinGen ExAC TOPMed gnomAD
rs774226459 CA6852611	209	P>R		No	ClinGen ExAC TOPMed gnomAD
CA387102123 rs879081980	209	P>S		No	ClinGen gnomAD
CA244809207 rs879081980	209	P>T		No	ClinGen gnomAD
CA387102105 rs769547068	210	P>A		No	ClinGen ExAC TOPMed gnomAD
CA387102088 rs780812314	210	P>L		No	ClinGen ExAC TOPMed gnomAD
CA6852603 rs780812314	210	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA6852604 rs780812314	210	P>R		No	ClinGen ExAC TOPMed gnomAD
CA387102102 rs769547068	210	P>S		No	ClinGen ExAC TOPMed gnomAD
CA6852605 rs769547068	210	P>T		No	ClinGen ExAC TOPMed gnomAD
CA387102081 rs1373714848	211	P>T		No	ClinGen gnomAD
CA387102050 rs1359815644	213	P>A		No	ClinGen TOPMed
rs370061749 CA6852598	213	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1485534352 CA387102038	214	V>M		No	ClinGen gnomAD
CA387102011 rs1197174527	215	P>L		No	ClinGen gnomAD
rs200363851 CA244809093	216	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6852593 rs200363851	216	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1361232423 CA387101980	217	G>E		No	ClinGen TOPMed
rs774654150 CA6852590	218	R>C		No	ClinGen ExAC TOPMed gnomAD
rs764042105 CA6852589	218	R>H		No	ClinGen ExAC gnomAD
rs745662904 CA6852586	222	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs745662904 CA6852585	222	P>Q		No	ClinGen ExAC gnomAD
CA387101850 rs1167439658	223	F>L		No	ClinGen gnomAD
rs1420713678 CA387101822	225	A>V		No	ClinGen TOPMed gnomAD
CA387101808 rs1475121878	227	M>V		No	ClinGen TOPMed gnomAD
CA6852582 rs746599217	229	S>L		No	ClinGen ExAC gnomAD
CA387101757 rs1389928225	230	G>A		No	ClinGen gnomAD
TCGA novel	232	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777520018 CA6852581	232	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6852579 rs747748387	233	V>M		No	ClinGen ExAC TOPMed gnomAD
CA387101695 rs1336270878	234	P>L		No	ClinGen TOPMed gnomAD
TCGA novel	234	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1039452512 CA244808969	235	Y>C		No	ClinGen Ensembl
rs756622487 CA6852577	236	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA6852576 rs750978912	238	L>I		No	ClinGen ExAC gnomAD
rs963427677 CA244808945	239	Q>*		No	ClinGen TOPMed gnomAD
rs370211610 CA6852575 COSM1359694	241	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs370211610 CA387101564	241	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1384504954 CA387101543	242	P>L		No	ClinGen TOPMed
CA6852574 rs142818834	243	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764426412 CA244808923	244	P>S		No	ClinGen ExAC TOPMed gnomAD
CA6852572 rs764426412	244	P>T		No	ClinGen ExAC TOPMed gnomAD
rs775709460 CA6852571	245	P>H		No	ClinGen ExAC TOPMed gnomAD
rs775709460 CA6852570	245	P>R		No	ClinGen ExAC TOPMed gnomAD
rs570240714 CA387101493	246	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs570240714 CA6852568	246	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6852567 rs770678646	246	R>H		No	ClinGen ExAC TOPMed
CA6852566 rs770678646	246	R>L		No	ClinGen ExAC TOPMed
rs747337112	246	R>P	Variant assessed as Somatic; 0.0001098 impact. [NCI-TCGA]	No	NCI-TCGA
rs570240714 CA387101498	246	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6852564 rs760564451	247	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6852563 rs146313658	248	G>D		No	ClinGen ESP ExAC gnomAD
rs771820210 CA6852562	249	L>F		No	ClinGen ExAC gnomAD
CA387101435 rs1253091003	250	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA387101439 rs1253091003	250	P>T		No	ClinGen TOPMed gnomAD
rs992285484 CA244808860	251	T>A		No	ClinGen gnomAD
rs1224174544 CA387101400	252	Q>H		No	ClinGen gnomAD
rs1286218854 CA387101406	252	Q>R		No	ClinGen gnomAD
CA387101394 rs1593901858	253	Q>*		No	ClinGen Ensembl
CA387101368 rs1308888259	255	F>L		No	ClinGen gnomAD
CA6852559 rs200856668	257	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA387101330 rs200856668	257	S>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6852557 rs374081924	259	F>L		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs777857034 CA387101270	262	P>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	262	P>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777857034 CA6852554	262	P>S		No	ClinGen ExAC TOPMed gnomAD
CA387101272 rs777857034	262	P>T		No	ClinGen ExAC TOPMed gnomAD
CA244808791 rs565901404	264	P>A		No	ClinGen 1000Genomes
rs547100278 CA6852553	264	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6852551 rs765254455	265	P>L		No	ClinGen ExAC gnomAD
CA6852550 rs759649916	266	P>L		No	ClinGen ExAC gnomAD
CA387101246 rs1593901773	266	P>S		No	ClinGen Ensembl
CA6852549 rs753751384	267	L>V		No	ClinGen ExAC gnomAD
CA6852548 rs766357504	268	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1196849990 CA387101232	269	Q>E		No	ClinGen TOPMed
CA387101230 rs1446287289	269	Q>P		No	ClinGen gnomAD
rs772991928 CA6852546	270	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1212690763 CA387101219	271	P>T		No	ClinGen gnomAD
rs761476904 CA6852544	272	P>L		No	ClinGen ExAC TOPMed gnomAD
CA387101206 rs1365561103	273	P>S		No	ClinGen gnomAD
rs1365561103 CA387101207	273	P>T		No	ClinGen gnomAD
CA387101200 rs748858286	274	R>P		No	ClinGen ExAC TOPMed gnomAD
rs748858286 CA6852541	274	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6852542 rs768251698	274	R>W		No	ClinGen ExAC gnomAD
CA6852540 rs201973753	278	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1431356914 CA387101179	278	H>Y		No	ClinGen TOPMed
rs1296763558 CA387101171	279	Q>R		No	ClinGen gnomAD
CA6852538 rs747479919	280	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1172607540 CA387101132	285	Q>*		No	ClinGen gnomAD
rs758715277 CA6852536	285	Q>P		No	ClinGen ExAC

No associated diseases with Q9H9H4

1 regional properties for Q9H9H4

Type	Name	Position	InterPro Accession
domain	Modifier of rudimentary, Modr	12 - 173	IPR009851

Functions

		Description
EC Number
Subcellular Localization	Late endosome membrane ; Peripheral membrane protein	Recruited to the endosomal membrane in a VPS4A-dependent fashion
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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.
late endosome membrane	The lipid bilayer surrounding a late endosome.
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.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

1 GO annotations of molecular function

Name	Definition
calcium-dependent protein binding	Binding to a protein or protein complex in the presence of calcium.

10 GO annotations of biological process

Name	Definition
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.
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 targeting to membrane	The process of directing proteins towards a membrane, usually using signals contained within the protein.
protein targeting to vacuole	The process of directing proteins towards the vacuole, usually using signals contained within the 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.
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 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.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MAGAGSEARF	AGLSLVQLNE	LLEDEGQLTE	MVQKMEETQN	VQLNKEMTLA	SNRSLAEGNL
70	80	90	100	110	120
LYQPQLDTLK	ARLTQKYQEL	QVLFEAYQIK	KTKLDRQSSS	ASLETLLALL	QAEGAKIEED
130	140	150	160	170	180
TENMAEKFLD	GELPLDSFID	VYQSKRKLAH	MRRVKIEKLQ	EMVLKGQRLP	QALAPLPPRL
190	200	210	220	230	240
PELAPTAPLP	YPAPEASGPP	AVAPRRIPPP	PPPVPAGRLA	TPFTAAMSSG	QAVPYPGLQC
250	260	270	280
PPLPPRVGLP	TQQGFSSQFV	SPYPPPLPQR	PPPRLPPHQP	GFILQ