AiPD: Autoinhibited Protein Database

Q9Y679

Gene name	AUP1
Protein name	Lipid droplet-regulating VLDL assembly factor AUP1
Names	Ancient ubiquitous protein 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:550
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

314-385 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

314-385 (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

3 structures for Q9Y679

Entry ID	Method	Resolution	Chain	Position	Source
2EKF	NMR	-	A	292-345	PDB
7LEW	X-ray	174 A	B	379-410	PDB
AF-Q9Y679-F1	Predicted				AlphaFoldDB

354 variants for Q9Y679

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA1728227 RCV000354717 rs777371915	9	P>S	Parkinson disease 13, autosomal dominant, susceptibility to [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1728231 rs745590359	2	E>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	2	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1487905172 CA347375107	2	E>Q		No	ClinGen TOPMed
CA1728230 rs780721110	4	P>L		No	ClinGen ExAC TOPMed gnomAD
CA347375079 rs1250939807	5	S>L		No	ClinGen TOPMed gnomAD
CA50487104 rs764241212	6	G>E		No	ClinGen gnomAD
CA347375074 rs764241212	6	G>V		No	ClinGen gnomAD
CA1728228 rs751063527	7	P>L		No	ClinGen ExAC TOPMed gnomAD
rs751063527 CA50487103	7	P>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	7	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1194294772 CA347375065	8	G>E		No	ClinGen Ensembl
COSM3407989 rs1572992667 CA347375058	9	P>L	central_nervous_system [Cosmic]	No	ClinGen cosmic curated Ensembl
CA347375045 rs1235352819	11	R>Q		No	ClinGen gnomAD
CA347375048 rs1257959433	11	R>W		No	ClinGen gnomAD
rs1184117944 CA347375021	15	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs759024170 CA1728226	15	S>W		No	ClinGen ExAC TOPMed gnomAD
rs1240113666 CA347375013	16	H>L		No	ClinGen gnomAD
CA1728225 rs200428184	16	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1188740629	17	R>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA347375008 rs1318310853	17	R>P		No	ClinGen gnomAD
CA347375009 rs1366552010	17	R>W		No	ClinGen gnomAD
TCGA novel	18	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770511647 CA1728209	19	P>L		No	ClinGen ExAC gnomAD
CA50487033 rs551674975	19	P>S		No	ClinGen 1000Genomes gnomAD
rs1438707787 CA347374959	20	G>S		No	ClinGen TOPMed gnomAD
rs1163010087 CA347374912	23	F>L		No	ClinGen TOPMed
rs372473706 CA1728208	23	F>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA347374891 rs1432476768	26	L>F		No	ClinGen TOPMed gnomAD
rs1232140783 CA347374883	27	V>L		No	ClinGen TOPMed gnomAD
rs1289800587 CA347374875	28	L>P		No	ClinGen gnomAD
CA1728204 rs779580959	28	L>V		No	ClinGen ExAC TOPMed gnomAD
CA1728203 rs755468782	29	L>V		No	ClinGen ExAC TOPMed gnomAD
rs992422054 CA50487021	30	L>F		No	ClinGen gnomAD
rs1338602457 CA347374851	31	Y>C		No	ClinGen TOPMed
rs370173846 CA1728201	32	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA347374844 rs370173846	32	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs367810642 CA1728200	32	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1184549010 CA347374830	33	P>L		No	ClinGen TOPMed gnomAD
rs750637782 CA1728199	35	G>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	36	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347374798 rs1180105016	37	C>S		No	ClinGen gnomAD
CA347374787 rs1453749378	38	L>V		No	ClinGen gnomAD
rs1213669136 CA347374778	39	L>F		No	ClinGen gnomAD
CA1728195 rs765119733	40	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1223939810 CA347374744	42	R>H		No	ClinGen gnomAD
CA347374714 rs1438319301	45	L>I		No	ClinGen gnomAD
rs377186972 CA1728191	49	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs747668874 CA1728188	52	V>A		No	ClinGen ExAC gnomAD
CA347374643 rs1392301985	52	V>I		No	ClinGen TOPMed gnomAD
rs898610053 CA50486982	53	S>G		No	ClinGen Ensembl
rs898610053 CA347374631	53	S>R		No	ClinGen Ensembl
rs1401429239 CA347374620	54	C>R		No	ClinGen gnomAD
CA347374604 rs1479193669	55	A>E		No	ClinGen gnomAD
CA347374607 rs115467431	55	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1728186 rs115467431	55	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780346944 CA1728184	56	L>P		No	ClinGen ExAC gnomAD
rs756486079 CA1728183	57	P>R		No	ClinGen ExAC gnomAD
TCGA novel	59	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201225621 CA347374552	60	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201225621 CA1728181	60	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1281658970 CA347374542	61	L>F		No	ClinGen TOPMed gnomAD
TCGA novel	62	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1220628102 CA347374530	62	R>P		No	ClinGen gnomAD
CA1728150 rs768134316	64	F>C		No	ClinGen ExAC gnomAD
rs762527856 CA1728149	64	F>L		No	ClinGen ExAC gnomAD
rs1475281114 CA347374474	65	V>L		No	ClinGen gnomAD
CA347374462 rs1185403674	67	R>Q		No	ClinGen gnomAD
rs768146322 CA1728148	67	R>W		No	ClinGen ExAC TOPMed gnomAD
CA1728145 rs371919390	71	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	72	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347374400 rs1235201884	74	G>R		No	ClinGen gnomAD
CA1728143 rs368321899	75	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	76	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1558608020 CA347374385	76	V>L		No	ClinGen Ensembl
rs758485212 CA1728142	78	R>G		No	ClinGen ExAC TOPMed gnomAD
CA1728140 rs752857814	78	R>Q		No	ClinGen ExAC gnomAD
CA1728141 rs758485212	78	R>W		No	ClinGen ExAC TOPMed gnomAD
rs981710668 CA50486804	79	Q>K		No	ClinGen TOPMed
CA347374339 rs1174310232	80	E>K		No	ClinGen TOPMed
CA1728138 rs756156375	81	D>N		No	ClinGen ExAC gnomAD
rs1167800717 CA347374297	82	S>C		No	ClinGen gnomAD
rs767474615 CA1728135	85	R>Q		No	ClinGen ExAC gnomAD
rs1158309717 CA347374255	85	R>W		No	ClinGen TOPMed
CA1728134 rs761712133	86	D>A		No	ClinGen ExAC gnomAD
CA347374251 rs1558607973	86	D>N		No	ClinGen Ensembl
rs1345498388 CA347374231	87	H>Y		No	ClinGen TOPMed
CA347374192 rs1250894151	88	S>N		No	ClinGen gnomAD
CA1728133 rs751243813	88	S>R		No	ClinGen ExAC gnomAD
rs749701538 CA347374156 CA1728132	90	R>S		No	ClinGen ExAC gnomAD
CA347374143 rs1572991671	91	V>G		No	ClinGen Ensembl
rs762463747 CA1728131	91	V>L		No	ClinGen ExAC TOPMed gnomAD
rs200897349 CA1728129	92	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1214277023 CA347374043	96	H>R		No	ClinGen gnomAD
CA347373963 rs1410379029	99	P>L		No	ClinGen TOPMed gnomAD
CA347373970 rs1558607908	99	P>S		No	ClinGen Ensembl
CA347373944 rs1272635406	100	F>L		No	ClinGen gnomAD
rs760103877 CA1728127	103	N>I		No	ClinGen ExAC gnomAD
rs760103877 CA50486763	103	N>S		No	ClinGen ExAC gnomAD
CA1728126 rs201711130	104	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs771373252 CA1728125	105	V>I		No	ClinGen ExAC gnomAD
CA1728124 rs747408018	106	N>H		No	ClinGen ExAC TOPMed gnomAD
CA1728123 rs773412790	108	L>F		No	ClinGen ExAC TOPMed gnomAD
CA347373789 rs773412790	108	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1284181510 CA347373750	109	T>I		No	ClinGen TOPMed
rs1393023329 CA347373740	110	T>S		No	ClinGen gnomAD
CA347373697 rs1245388273	112	S>N		No	ClinGen TOPMed
rs1468203648 CA347373677	113	T>A		No	ClinGen TOPMed
rs998050680 CA50486706	113	T>I		No	ClinGen TOPMed gnomAD
rs528150690 CA1728060	115	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1330643521 CA347373382	118	S>C		No	ClinGen gnomAD
CA1728058 rs749878920	118	S>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	118	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767938202 CA1728057	119	P>A		No	ClinGen ExAC TOPMed gnomAD
rs767938202 CA347373364	119	P>T		No	ClinGen ExAC TOPMed gnomAD
CA347373331 rs1464104426	120	P>A		No	ClinGen gnomAD
rs752018733 CA1728055	121	S>N		No	ClinGen ExAC gnomAD
rs988986784 CA50486550	125	W>*		No	ClinGen TOPMed gnomAD
CA1728052 rs775562616	126	S>P		No	ClinGen ExAC gnomAD
CA1728050 rs759541157	129	F>L		No	ClinGen ExAC gnomAD
rs201602661 CA1728051	129	F>S		No	ClinGen ExAC gnomAD
CA1728047 rs748059864	130	M>K		No	ClinGen ExAC
rs200125673 CA1728048 CA1728049	130	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs778724196 CA1728046	132	M>T		No	ClinGen ExAC gnomAD
rs1197335429 CA347373057	133	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1728045 rs545469947	134	G>E		No	ClinGen 1000Genomes ExAC gnomAD
rs770583135 CA50486542	134	G>R		No	ClinGen Ensembl
rs1273285344 CA347373028	135	R>G		No	ClinGen TOPMed gnomAD
rs779574160 CA1728043	135	R>L		No	ClinGen ExAC TOPMed gnomAD
rs779574160 CA1728044	135	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA347373026 rs1273285344	135	R>W		No	ClinGen TOPMed gnomAD
rs749922530 CA1728041	136	G>E		No	ClinGen ExAC gnomAD
CA1728042 rs749922530	136	G>V		No	ClinGen ExAC gnomAD
rs1288553855 CA347372977	137	E>D		No	ClinGen gnomAD
CA347372989 rs1572990934	137	E>G		No	ClinGen Ensembl
rs1239481222 CA347372999	137	E>K		No	ClinGen gnomAD
CA347372997 rs1239481222	137	E>Q		No	ClinGen gnomAD
rs569051828 CA50486534	141	S>L		No	ClinGen Ensembl
rs752108501 CA1728038	141	S>T		No	ClinGen ExAC gnomAD
CA347372852 rs1326654175	144	R>I		No	ClinGen TOPMed gnomAD
CA347372857 rs1326654175	144	R>K		No	ClinGen TOPMed gnomAD
CA347372821 rs1411868325	146	C>R		No	ClinGen gnomAD
TCGA novel	146	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1159266704 CA347372799	147	A>V		No	ClinGen gnomAD
CA1728035 rs758847485	150	R>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	150	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376279616 CA1728034	152	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1439030274 CA347372756	152	P>S		No	ClinGen TOPMed
rs1236323046 CA347372749	153	P>T		No	ClinGen TOPMed
CA347372741 rs1470226584	154	T>A		No	ClinGen gnomAD
TCGA novel	154	T>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs986841209 CA50486522	155	P>H		No	ClinGen TOPMed gnomAD
rs1572990832 CA347372732	155	P>T		No	ClinGen Ensembl
rs1349625736 CA347372681	160	P>L		No	ClinGen gnomAD
CA347372637 rs1236301406	164	A>S		No	ClinGen gnomAD
rs749066183 CA1728026	166	N>H		No	ClinGen ExAC gnomAD
rs1302638370 CA347372613	166	N>K		No	ClinGen gnomAD
rs1558607177 CA347372599	168	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1286137111 CA347372570	171	L>F		No	ClinGen TOPMed
CA1728024 rs190881289	173	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA347372554 rs1320478096	173	R>H		No	ClinGen TOPMed gnomAD
CA50486515 rs190881289	173	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA347372534 rs1360218000	175	S>I		No	ClinGen TOPMed gnomAD
CA347372539 rs1401518863	175	S>R		No	ClinGen gnomAD
CA347372535 rs1360218000	175	S>T		No	ClinGen TOPMed gnomAD
rs565827837 CA50486429	176	S>A		No	ClinGen Ensembl
CA1728005 rs547710918	176	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1273701698 CA347372480	177	W>*		No	ClinGen gnomAD
rs1037264520 CA50486426	178	P>S		No	ClinGen Ensembl
TCGA novel	180	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347372444 rs1215217329	181	I>V		No	ClinGen gnomAD
rs776427270 CA1728004	182	Q>R		No	ClinGen ExAC gnomAD
rs13279 CA50486417	184	V>A		No	ClinGen Ensembl
rs770649289 CA1728003	184	V>M		No	ClinGen ExAC gnomAD
CA347372402 rs1558606779	185	V>E		No	ClinGen Ensembl
rs746538427 CA1728002 COSM576003	185	V>I	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs759011791 CA1728000	188	L>V		No	ClinGen ExAC TOPMed gnomAD
rs550569575 CA1727997	189	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs550569575 CA347372368	189	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs755362128 CA1727996	190	L>M		No	ClinGen ExAC gnomAD
CA347372328 rs1171776914	193	Q>H		No	ClinGen gnomAD
rs1212370893 CA347372338	193	Q>K		No	ClinGen TOPMed
CA1727995 rs754097240	195	P>H		No	ClinGen ExAC
CA347372302 rs1464611849	196	L>P		No	ClinGen gnomAD
rs780280706 CA1727994	197	V>I		No	ClinGen ExAC gnomAD
rs1327324911 CA347372241	200	T>M		No	ClinGen TOPMed gnomAD
CA347372217 rs771595107	203	D>H		No	ClinGen ExAC gnomAD
CA1727982 rs771595107	203	D>Y		No	ClinGen ExAC gnomAD
CA347372211 rs1162310330	204	A>T		No	ClinGen gnomAD
TCGA novel	205	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs968700835 CA50486321	209	E>G		No	ClinGen Ensembl
CA1727980 rs779491856	212	W>*		No	ClinGen ExAC gnomAD
CA1727979 rs768998963	214	L>R		No	ClinGen ExAC gnomAD
rs377142567 CA50486317	216	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
rs780368452 CA1727977	220	V>E		No	ClinGen ExAC gnomAD
CA347372060 rs1265040169	220	V>M		No	ClinGen gnomAD
CA1727976 rs756378752	222	Q>P		No	ClinGen ExAC gnomAD
TCGA novel	223	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	226	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755973491 CA1727949 COSM259586	227	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs755973491 CA347370936	227	R>G		No	ClinGen ExAC TOPMed gnomAD
rs750198998 CA1727948	227	R>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	231	R>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761343619 CA1727946	231	R>C		No	ClinGen ExAC TOPMed gnomAD
rs879539638 CA50484733	231	R>H		No	ClinGen TOPMed gnomAD
rs1324944674 CA347370833	233	L>P		No	ClinGen TOPMed
rs763500945 CA1727944	233	L>V		No	ClinGen ExAC gnomAD
rs775982502 CA1727942	234	G>E		No	ClinGen ExAC gnomAD
CA1727943 rs200207628	234	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA1727941 rs746253272	235	E>D		No	ClinGen ExAC gnomAD
CA1727939 rs776820593	236	A>V		No	ClinGen ExAC gnomAD
CA347370761 rs1357053442	238	E>K		No	ClinGen gnomAD
rs1298106188 CA347370747	239	E>A		No	ClinGen TOPMed
CA1727937 rs747175457	240	F>L		No	ClinGen ExAC TOPMed gnomAD
CA347370712 rs1558606154	242	L>V		No	ClinGen Ensembl
CA50484708 rs943492586 COSM1669089	243	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA1727936 rs777964822	243	R>H		No	ClinGen ExAC gnomAD
CA347370696 rs777964822	243	R>P		No	ClinGen ExAC gnomAD
CA1727922 rs577419250	248	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs771183900 CA1727921	250	K>E		No	ClinGen ExAC gnomAD
CA50484641 rs74724435	254	Q>*		No	ClinGen Ensembl
TCGA novel	254	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA50484639 rs972348625	255	T>A		No	ClinGen TOPMed
rs962615725 CA50484635	255	T>R		No	ClinGen TOPMed
CA347370430 rs1196184231	257	T>A		No	ClinGen gnomAD
rs372837286 CA1727920	258	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs934745406 CA50484625	258	R>W		No	ClinGen TOPMed gnomAD
CA347370413 rs1448948481	259	L>F		No	ClinGen TOPMed
CA347370385 rs1286208698	260	T>S		No	ClinGen TOPMed
CA347370287 rs915916713	264	K>E		No	ClinGen TOPMed
rs915916713 CA50484616	264	K>Q		No	ClinGen TOPMed
CA50484615 rs991386867	267	H>Y		No	ClinGen TOPMed gnomAD
rs1240692042 CA347370163	268	M>I		No	ClinGen gnomAD
CA1727917 rs74372431	268	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1727916 rs74372431	268	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769904274 CA50484601	270	R>P		No	ClinGen ExAC TOPMed gnomAD
rs769904274 CA1727915	270	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1727914 rs745782270	272	R>K		No	ClinGen ExAC TOPMed gnomAD
rs1572989250 CA347370067	273	H>P		No	ClinGen Ensembl
rs781109972 CA1727913	273	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA347370052 rs1351707153	274	P>S		No	ClinGen gnomAD
CA50484598 rs993302827	276	L>M		No	ClinGen TOPMed
CA1727912 rs757009295	277	R>C	Variant assessed as Somatic; 0.0001857 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs138752223 CA1727911	277	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1727909 rs758005198	279	Q>H		No	ClinGen ExAC gnomAD
rs1258419615 CA347369959	279	Q>R		No	ClinGen TOPMed gnomAD
TCGA novel	279	Q>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA50484438 rs775987477	282	Q>R		No	ClinGen Ensembl
rs768867343 CA1727871	283	S>C		No	ClinGen ExAC gnomAD
rs1450709826 CA347369726	286	P>S		No	ClinGen gnomAD
CA347369712 rs762964514	287	P>A		No	ClinGen ExAC TOPMed gnomAD
rs762964514 CA1727870	287	P>S		No	ClinGen ExAC TOPMed gnomAD
rs775600735 CA1727869	288	S>F		No	ClinGen ExAC gnomAD
CA347369681 rs775600735	288	S>Y		No	ClinGen ExAC gnomAD
rs770813807 CA1727868	289	P>A		No	ClinGen ExAC TOPMed gnomAD
rs746943445 CA1727867	289	P>R		No	ClinGen ExAC gnomAD
CA50484424 rs267599459	291	P>S		No	ClinGen Ensembl
CA1727865 rs771849504	292	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs1391561214 CA347369518	294	D>G		No	ClinGen TOPMed
rs1207974164 CA347369484	295	V>M		No	ClinGen TOPMed gnomAD
CA50484421 rs903365641	299	T>A		No	ClinGen TOPMed gnomAD
CA50484419 rs896881510	300	L>V		No	ClinGen TOPMed gnomAD
CA1727861 rs754606862	301	A>V		No	ClinGen ExAC gnomAD
rs1276584832 CA347369325	302	Q>E		No	ClinGen gnomAD
CA1727860 rs199759035	303	R>K		No	ClinGen 1000Genomes ExAC gnomAD
CA1727858 rs756641405	306	E>A		No	ClinGen ExAC
rs768073835 CA1727856	307	V>I		No	ClinGen ExAC gnomAD
CA347369164 rs1232358191	309	P>T		No	ClinGen TOPMed
rs1464687464 CA347369137	310	H>L		No	ClinGen gnomAD
rs1424135217 CA347369052	314	G>D		No	ClinGen gnomAD
TCGA novel	318	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764255055 CA1727853	319	D>E		No	ClinGen ExAC TOPMed gnomAD
rs909843369 CA50484407	321	A>S		No	ClinGen TOPMed
CA50484345 rs928500985	322	K>N		No	ClinGen Ensembl
CA1727839 rs371832563	324	G>R		No	ClinGen ESP ExAC gnomAD
CA1727837 rs757799241	325	C>S		No	ClinGen ExAC gnomAD
CA1727836 rs548199344	325	C>W		No	ClinGen 1000Genomes ExAC gnomAD
rs1313026676 CA347368738	326	V>I		No	ClinGen TOPMed
rs770057558 CA1727834 CA50484319 COSM1307008	328	L>F	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD NCI-TCGA
CA347368651 rs1558605173	330	I>T		No	ClinGen Ensembl
CA347368658 rs1356322891	330	I>V		No	ClinGen TOPMed gnomAD
CA1727833 rs752957961	332	N>S		No	ClinGen ExAC gnomAD
CA1727831 rs759623299	336	G>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	337	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1727829 rs767469881	337	A>T		No	ClinGen ExAC gnomAD
CA347368529 rs1401561381	338	V>A		No	ClinGen gnomAD
rs200160127 CA1727827	338	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs376976012 CA1727825	339	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA1727826 rs376976012	339	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA50484296 rs1030930270	341	M>T		No	ClinGen TOPMed gnomAD
rs775224555 CA1727824	342	P>S		No	ClinGen ExAC gnomAD
rs953282283 CA50484285	346	T>A		No	ClinGen Ensembl
CA347368409 rs1430260766	347	K>E		No	ClinGen TOPMed
CA347368403 rs1379370603	347	K>M		No	ClinGen gnomAD
CA347368410 rs1430260766	347	K>Q		No	ClinGen TOPMed
CA347368407 rs1379370603	347	K>R		No	ClinGen gnomAD
CA347368408 rs1379370603	347	K>T		No	ClinGen gnomAD
rs1433896968 CA347368362	350	Q>*		No	ClinGen gnomAD
rs1433896968 CA347368370	350	Q>E		No	ClinGen gnomAD
CA347368351 rs1197576332	350	Q>H		No	ClinGen gnomAD
CA1727822 rs745403243	350	Q>P		No	ClinGen ExAC gnomAD
CA1727821 rs780820596	352	L>I		No	ClinGen ExAC gnomAD
CA1727819 rs747503247	353	P>L		No	ClinGen ExAC TOPMed gnomAD
rs771616179 CA1727820	353	P>S		No	ClinGen ExAC gnomAD
rs1349154866 CA347368311	354	T>S		No	ClinGen gnomAD
CA1727816 rs771383606	358	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1408728190 CA347368269	359	K>R		No	ClinGen TOPMed gnomAD
rs868100032 CA50484193	361	P>L		No	ClinGen Ensembl
CA1727789 rs576464681	363	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs576464681 CA1727790	363	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762767947 CA1727791	363	S>P		No	ClinGen ExAC gnomAD
rs201648655 CA1727788 COSM1023044	365	P>L	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1412217284 CA347368086	366	V>A		No	ClinGen TOPMed
rs1412217284 CA347368087	366	V>E		No	ClinGen TOPMed
CA1727786 rs766071209	367	T>I		No	ClinGen ExAC TOPMed gnomAD
rs772552528 CA1727784	368	P>R		No	ClinGen ExAC gnomAD
rs1265797521 CA347368047	369	Q>*		No	ClinGen TOPMed gnomAD
CA1727783 rs772672022	371	T>P		No	ClinGen ExAC gnomAD
TCGA novel	373	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs188931759 CA1727782	374	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1377781232 CA347367914	376	A>P		No	ClinGen gnomAD
rs373925949 CA1727779	377	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs769016062 CA1727780	377	K>R		No	ClinGen ExAC gnomAD
rs1393215001 CA347367868	378	S>C		No	ClinGen gnomAD
CA347367872 rs1393215001	378	S>F		No	ClinGen gnomAD
rs780280700 CA1727778	381	A>T		No	ClinGen ExAC TOPMed gnomAD
CA1727776 rs746000640	382	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1727777 rs756251345	382	R>W		No	ClinGen ExAC TOPMed gnomAD
CA347367759 rs1330078745	383	Q>H		No	ClinGen TOPMed
CA1727775 rs552807957	384	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1271280480 CA347367717	385	S>T		No	ClinGen TOPMed
rs1248363478 CA347367679	387	Q>L		No	ClinGen TOPMed
CA1727773 rs534523810	388	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs962178266 CA50484160	389	R>C		No	ClinGen TOPMed gnomAD
COSM1752675 rs370905890 CA1727771	389	R>H	urinary_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs370905890 CA1727772	389	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1727770 rs753637277	391	Q>E		No	ClinGen ExAC gnomAD
rs1473333770 CA347367600	391	Q>P		No	ClinGen TOPMed
CA1727769 rs766157270	393	L>P		No	ClinGen ExAC
CA347367540 rs1385477931	394	Y>C		No	ClinGen gnomAD
rs1405463478 CA347367521	395	E>Q		No	ClinGen TOPMed
rs755987835 CA347367475	397	A>S		No	ClinGen TOPMed
rs755987835 CA50484153	397	A>T		No	ClinGen TOPMed
CA50484150 rs571870684	398	R>K		No	ClinGen Ensembl
rs1572987937 CA347367337	401	F>L		No	ClinGen Ensembl
CA347367313 rs751138806	401	F>L		No	ClinGen TOPMed gnomAD
CA50484114 rs968068750 COSM1023042	405	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs755850362 CA1727749	405	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	407	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347367176 rs1345091927	408	E>K		No	ClinGen TOPMed gnomAD
rs1345091927 CA347367173	408	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA347367161 rs1415643387	409	A>T		No	ClinGen gnomAD
rs1425264704 CA347367152	409	A>V		No	ClinGen gnomAD
CA347367139 rs1171574243	410	D>G		No	ClinGen gnomAD

No associated diseases with Q9Y679

1 regional properties for Q9Y679

Type	Name	Position	InterPro Accession
domain	Ubiquitin system component CUE	296 - 338	IPR003892

Functions

		Description
EC Number
Subcellular Localization	Endoplasmic reticulum membrane ; Peripheral membrane protein Lipid droplet ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
autophagosome	A double-membrane-bounded compartment that engulfs endogenous cellular material as well as invading microorganisms to target them to the lytic vacuole/lysosome for degradation as part of macroautophagy.
cytoplasmic vesicle	A vesicle found in the cytoplasm of a cell.
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
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.
Hrd1p ubiquitin ligase ERAD-L complex	A multiprotein complex that recognizes and ubiquitinates proteins with misfolded luminal domains during ER-associated protein degradation (ERAD). In S. cerevisiae, this complex contains the ubiquitin ligase Hrd1p.
integral component of endoplasmic reticulum membrane	The component of the endoplasmic reticulum membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
lipid droplet	An intracellular non-membrane-bounded organelle comprising a matrix of coalesced lipids surrounded by a phospholipid monolayer. May include associated proteins.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

4 GO annotations of molecular function

Name	Definition
ubiquitin binding	Binding to ubiquitin, a protein that when covalently bound to other cellular proteins marks them for proteolytic degradation.
ubiquitin conjugating enzyme binding	Binding to a ubiquitin conjugating enzyme, any of the E2 proteins.
ubiquitin protein ligase binding	Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins.
ubiquitin-protein transferase activator activity	Binds to and increases the activity of a ubiquitin-protein transferase, an enzyme that catalyzes the covalent attachment of ubiquitin to lysine in a substrate protein.

8 GO annotations of biological process

Name	Definition
ER-associated misfolded protein catabolic process	The chemical reactions and pathways resulting in the breakdown of misfolded proteins transported from the endoplasmic reticulum and targeted to cytoplasmic proteasomes for degradation.
lipid droplet formation	A process that results in the assembly, arrangement of constituent parts of a lipid droplet.
lipid droplet organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a lipid particle.
lipophagy	The selective autophagy process in which lipid droplets are delivered to the vacuole and degraded in response to changing cellular conditions.
protein localization to lipid droplet	A process in which a protein is transported to, or maintained in, a location on or within a lipid droplet.
response to virus	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a virus.
retrograde protein transport, ER to cytosol	The directed movement of unfolded or misfolded proteins from the endoplasmic reticulum to the cytosol through the translocon.
ubiquitin-dependent ERAD pathway	The series of steps necessary to target endoplasmic reticulum (ER)-resident proteins for degradation by the cytoplasmic proteasome. Begins with recognition of the ER-resident protein, includes retrotranslocation (dislocation) of the protein from the ER to the cytosol, protein ubiquitination necessary for correct substrate transfer, transport of the protein to the proteasome, and ends with degradation of the protein by the cytoplasmic proteasome.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A3FPG8	GPAT4	Glycerol-3-phosphate acyltransferase 4	Bos taurus (Bovine)	PR
Q86UL3	GPAT4	Glycerol-3-phosphate acyltransferase 4	Homo sapiens (Human)	PR
Q9SHJ5	GPAT1	Glycerol-3-phosphate acyltransferase 1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q6PBN5	aup1	Lipid droplet-regulating VLDL assembly factor AUP1	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MELPSGPGPE	RLFDSHRLPG	DCFLLLVLLL	YAPVGFCLLV	LRLFLGIHVF	LVSCALPDSV
70	80	90	100	110	120
LRRFVVRTMC	AVLGLVARQE	DSGLRDHSVR	VLISNHVTPF	DHNIVNLLTT	CSTPLLNSPP
130	140	150	160	170	180
SFVCWSRGFM	EMNGRGELVE	SLKRFCASTR	LPPTPLLLFP	EEEATNGREG	LLRFSSWPFS
190	200	210	220	230	240
IQDVVQPLTL	QVQRPLVSVT	VSDASWVSEL	LWSLFVPFTV	YQVRWLRPVH	RQLGEANEEF
250	260	270	280	290	300
ALRVQQLVAK	ELGQTGTRLT	PADKAEHMKR	QRHPRLRPQS	AQSSFPPSPG	PSPDVQLATL
310	320	330	340	350	360
AQRVKEVLPH	VPLGVIQRDL	AKTGCVDLTI	TNLLEGAVAF	MPEDITKGTQ	SLPTASASKF
370	380	390	400
PSSGPVTPQP	TALTFAKSSW	ARQESLQERK	QALYEYARRR	FTERRAQEAD