AiPD: Autoinhibited Protein Database

Q9Y6Q5

Gene name	AP1M2
Protein name	AP-1 complex subunit mu-2
Names	AP-mu chain family member mu1B, Adaptor protein complex AP-1 subunit mu-2, Adaptor-related protein complex 1 subunit mu-2, Clathrin assembly protein complex 1 mu-2 medium chain 2, Golgi adaptor HA1/AP1 adaptin mu-2 subunit, Mu-adaptin 2, Mu1B-adaptin
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10053
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

99-190 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

99-190 (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

1 structures for Q9Y6Q5

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9Y6Q5-F1	Predicted				AlphaFoldDB

398 variants for Q9Y6Q5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1489637843 CA404029750	2	S>A		No	ClinGen TOPMed gnomAD
TCGA novel	2	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9198144 rs534970231	2	S>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1482341608 CA404029736	3	A>S		No	ClinGen gnomAD
CA404029733 rs1276212574	3	A>V		No	ClinGen TOPMed gnomAD
CA305255469 rs867461813	4	S>*		No	ClinGen Ensembl
rs867245124 CA305255462	5	A>T		No	ClinGen Ensembl
CA404029693 rs1346781237	7	F>L		No	ClinGen gnomAD
rs924291220 CA305255455	8	I>F		No	ClinGen gnomAD
CA404029678 rs924291220	8	I>L		No	ClinGen gnomAD
rs1195638687 CA404029672	8	I>M		No	ClinGen TOPMed
CA404029676 rs1220756197	8	I>T		No	ClinGen gnomAD
rs1407965393 CA404029652	11	V>A		No	ClinGen gnomAD
CA404029617 rs1430483644	14	K>E		No	ClinGen TOPMed gnomAD
CA404028816 rs1183076422	15	P>L		No	ClinGen gnomAD
CA404028819 rs1279231488	15	P>S		No	ClinGen TOPMed
CA9198127 rs780543768	16	L>S		No	ClinGen ExAC gnomAD
CA404028806 rs1330876719	17	I>T		No	ClinGen gnomAD
rs1206597286 CA404028808	17	I>V		No	ClinGen gnomAD
CA404028802 rs1430194919	18	S>R		No	ClinGen gnomAD
CA9198126 rs749133247 COSM1183109	19	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA9198125 rs746291058	19	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1568434105 CA404028784	20	N>K		No	ClinGen Ensembl
CA305251976 rs917840672	21	Y>F		No	ClinGen Ensembl
rs754448005 CA9198120	24	D>G		No	ClinGen ExAC TOPMed gnomAD
rs370653364 CA9198122	24	D>N	Variant assessed as Somatic; 4.707e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs754448005 CA9198121	24	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1320068039 CA404028756	25	V>M		No	ClinGen TOPMed gnomAD
CA404028745 rs1433384180	26	A>V		No	ClinGen gnomAD
CA305251948 rs376558655 CA404028738	27	M>I		No	ClinGen ESP TOPMed gnomAD
CA404028741 rs1457889116	27	M>T		No	ClinGen gnomAD
CA9198118 rs572721082	27	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1430101571 CA404028733	28	S>N		No	ClinGen TOPMed
CA9198117 rs762798391	30	I>L		No	ClinGen ExAC TOPMed gnomAD
CA9198116 rs747265075	30	I>T		No	ClinGen ExAC gnomAD
CA404028690 rs1390715582	32	H>Y		No	ClinGen TOPMed
rs762045609 CA9198115	33	F>L		No	ClinGen ExAC gnomAD
CA9198114 rs762045609	33	F>V		No	ClinGen ExAC gnomAD
CA9198113 rs776795502	34	M>R		No	ClinGen ExAC gnomAD
rs527521673 CA305251929	35	P>H		No	ClinGen ExAC gnomAD
rs527521673 CA9198112	35	P>R		No	ClinGen ExAC gnomAD
CA9198110 rs772702333	36	L>F		No	ClinGen ExAC gnomAD
TCGA novel	36	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1322349719 CA404028625	38	V>E		No	ClinGen gnomAD
CA404028629 rs1247097441	38	V>L		No	ClinGen gnomAD
CA404028616 rs1372519080	39	Q>R		No	ClinGen TOPMed
CA404028604 rs774902548	40	R>L		No	ClinGen ExAC TOPMed gnomAD
CA9198107 rs774902548	40	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9198108 rs200200048	40	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1230025975 CA404028591	42	E>K		No	ClinGen TOPMed
CA9198106 rs368922983	43	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed
CA404028573 rs1321715322	44	G>A		No	ClinGen TOPMed gnomAD
rs1321715322 CA404028574	44	G>D		No	ClinGen TOPMed gnomAD
rs780844145 CA404028570	45	A>S		No	ClinGen ExAC TOPMed gnomAD
rs780844145 CA9198104	45	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	47	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1389055193 CA404028547	47	A>V		No	ClinGen gnomAD
rs1166148359 CA404028538	48	P>L		No	ClinGen gnomAD
CA305251850 rs556698616	48	P>S		No	ClinGen Ensembl
CA9198100 rs758411907	51	S>T		No	ClinGen ExAC gnomAD
CA9198099 rs377223246	52	H>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA9198097 rs374316308	52	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA305251813 rs377223246	52	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA404028498 rs754073304	53	G>C		No	ClinGen ExAC TOPMed gnomAD
CA9198096 rs754073304	53	G>S		No	ClinGen ExAC TOPMed gnomAD
rs867933307 CA305251783	56	H>L		No	ClinGen Ensembl
rs764434643 CA9198095	56	H>Y		No	ClinGen ExAC gnomAD
rs963723764 CA305251774	57	F>I		No	ClinGen TOPMed gnomAD
TCGA novel	59	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1233002726 CA404028440	59	W>R		No	ClinGen gnomAD
rs1329663358 CA404028411	61	K>R		No	ClinGen gnomAD
CA9198092 rs767469273	62	H>Q		No	ClinGen ExAC gnomAD
rs1303819271 CA404028398	62	H>R		No	ClinGen gnomAD
CA9198091 rs36003716	64	N>D		No	ClinGen ExAC TOPMed gnomAD
rs1431028753 CA404028376	64	N>S		No	ClinGen gnomAD
CA404028367 rs1231204780	65	L>F		No	ClinGen TOPMed gnomAD
rs1171583344 CA404028354	66	Y>C		No	ClinGen gnomAD
rs1171583344 CA404028352	66	Y>F		No	ClinGen gnomAD
rs983505996 CA305251238	68	V>A		No	ClinGen TOPMed gnomAD
rs1388550144 CA404027450	68	V>M		No	ClinGen gnomAD
CA305251230 rs866876160	69	A>S		No	ClinGen TOPMed gnomAD
rs866876160 CA305251236	69	A>T		No	ClinGen TOPMed gnomAD
rs1456318106 CA404027411	70	T>S		No	ClinGen gnomAD
rs549899023 CA404027381	72	S>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs549899023 CA9198045	72	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs549899023 CA404027378	72	S>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA404027352 rs1203803166	74	N>Y		No	ClinGen gnomAD
rs749276032 CA305251153	75	A>G		No	ClinGen ExAC gnomAD
rs1044839920 CA305251159	75	A>S		No	ClinGen Ensembl
rs749276032 CA9198043	75	A>V		No	ClinGen ExAC gnomAD
CA9198042 rs370137945	76	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs769642066 CA9198041	78	S>F		No	ClinGen ExAC gnomAD
rs1438581755 CA404027284	79	L>V		No	ClinGen gnomAD
CA404027268 rs1356686150	81	Y>N		No	ClinGen TOPMed
CA9198037 rs34276903	85	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9198035 rs527647767	86	K>E		No	ClinGen 1000Genomes ExAC gnomAD
CA9198036 rs527647767	86	K>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1368396216 CA404027190	86	K>R		No	ClinGen TOPMed
CA9198032 rs757775861	88	I>M		No	ClinGen ExAC gnomAD
rs765720322 CA9198033	88	I>T		No	ClinGen ExAC TOPMed gnomAD
CA404026762 rs1211997987	90	V>A		No	ClinGen gnomAD
rs201611005 CA9198008	92	C>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756399358 CA9198010	92	C>R		No	ClinGen ExAC gnomAD
CA305249527 rs201611005	92	C>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9198009 rs751224180	92	C>Y		No	ClinGen ExAC gnomAD
rs772650211 CA9198006	93	E>K		No	ClinGen ExAC TOPMed gnomAD
CA404026741 rs1435865199	94	Y>H		No	ClinGen TOPMed
CA404026732 rs1309319708	95	F>L		No	ClinGen gnomAD
rs1283439900 CA404026721	96	K>R		No	ClinGen TOPMed gnomAD
CA305249518 rs528647825	97	E>K		No	ClinGen 1000Genomes
rs764760419 CA404026710	98	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1378732925 CA404026687	101	E>*		No	ClinGen gnomAD
rs185906682 CA9198002	104	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776644129 CA9198003	104	R>W		No	ClinGen ExAC gnomAD
rs746859368 CA9198001	105	D>N		No	ClinGen ExAC gnomAD
rs772222226 CA9197999	108	V>I		No	ClinGen ExAC gnomAD
COSM990646 CA9197998 rs746080407	110	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs770998547 CA9197996	112	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1013037656 CA305249434	114	L>P		No	ClinGen Ensembl
rs1461465458 CA404026595	115	D>N		No	ClinGen gnomAD
CA404026589 rs1257700973	116	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA404026588 rs1257700973	116	E>Q		No	ClinGen TOPMed
rs778192600 CA9197994	119	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA404026538 rs1466253447	122	F>L		No	ClinGen gnomAD
CA9197993 rs756597491	123	P>L		No	ClinGen ExAC gnomAD
CA404026537 rs1261177971	123	P>T		No	ClinGen gnomAD
CA404026527 rs1310624801	124	Q>L		No	ClinGen gnomAD
rs547770953 CA9197988	127	D>H		No	ClinGen ExAC TOPMed gnomAD
rs547770953 CA9197989	127	D>N		No	ClinGen ExAC TOPMed gnomAD
rs761350214 CA9197987	128	S>G		No	ClinGen ExAC gnomAD
CA404026504 rs1387796687 COSM990645	128	S>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs753387578 CA9197986	131	L>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1162079650 CA404026472	133	E>K		No	ClinGen gnomAD
rs1232982402 CA404026450	134	Y>D		No	ClinGen TOPMed gnomAD
rs935846516 CA305249203	135	I>L		No	ClinGen TOPMed
CA404026433 rs1405061462	136	T>I		No	ClinGen gnomAD
rs1411358801 CA404026389	142	L>P		No	ClinGen gnomAD
CA9197961 rs370107597	144	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA9197958 rs748612320	145	G>R		No	ClinGen ExAC gnomAD
CA404026355 rs542063701	148	R>G		No	ClinGen ExAC gnomAD
CA404026353 rs769031495	148	R>P		No	ClinGen ExAC TOPMed gnomAD
CA9197956 rs769031495	148	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9197957 rs542063701	148	R>W		No	ClinGen ExAC gnomAD
rs1278773076 CA404026350	149	V>E		No	ClinGen TOPMed
rs373357882 CA9197954	149	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA9197953 rs375907948	151	P>T		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA404026330 rs1439845601	153	V>I		No	ClinGen TOPMed gnomAD
rs373522742 CA9197952	154	T>S		No	ClinGen ESP ExAC gnomAD
CA9197951 rs777455515	155	N>S		No	ClinGen ExAC gnomAD
CA404026309 rs1245332736	156	A>G		No	ClinGen TOPMed
rs752585662 CA9197949	156	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1005693095 CA404026297	158	S>F		No	ClinGen TOPMed
rs1005693095 CA305249045	158	S>Y		No	ClinGen TOPMed
rs369613061 CA9197948	159	W>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs372188688 CA9197947	160	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA9197946 rs751408678	160	R>H		No	ClinGen ExAC TOPMed gnomAD
rs751408678 CA404026286	160	R>L		No	ClinGen ExAC TOPMed gnomAD
CA305249007 rs751408678	160	R>P		No	ClinGen ExAC TOPMed gnomAD
CA404026288 rs372188688	160	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9197945 rs766115907	161	S>A		No	ClinGen ExAC gnomAD
rs773360506 CA9197943 COSM990643	162	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs535793924 CA305248992	163	G>D		No	ClinGen 1000Genomes TOPMed
rs769247663 CA9197939	166	Y>F		No	ClinGen ExAC gnomAD
CA305248980 rs944384634	167	K>E		No	ClinGen TOPMed gnomAD
CA404026219 rs1599552020	170	E>G		No	ClinGen Ensembl
rs772524249 CA9197936	172	F>L		No	ClinGen ExAC gnomAD
CA404026199 rs1391221908	173	I>T		No	ClinGen TOPMed gnomAD
CA9197935 rs748952450	173	I>V		No	ClinGen ExAC TOPMed gnomAD
rs369879685 CA9197933	175	V>A		No	ClinGen ESP ExAC gnomAD
rs777506253 CA9197934	175	V>I		No	ClinGen ExAC gnomAD
rs747758427 CA9197932	176	I>T		No	ClinGen ExAC gnomAD
rs1321446165 CA404026173	177	E>V		No	ClinGen TOPMed
rs1350718252 CA404026158	180	N>H		No	ClinGen gnomAD
CA9197930 rs754967797	181	L>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA305248670 rs547883837	184	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9197897 rs547883837	184	N>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9197895 rs776090176	184	N>S		No	ClinGen ExAC TOPMed gnomAD
rs776090176 CA9197896	184	N>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	186	N>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746592679 CA9197893	187	G>S		No	ClinGen ExAC TOPMed gnomAD
rs779511347 CA9197892	188	S>N		No	ClinGen ExAC gnomAD
rs368585156 CA9197890	189	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1599551842 CA404026086	190	L>F		No	ClinGen Ensembl
rs1404794049 CA404026066	193	E>G		No	ClinGen TOPMed
CA9197887 rs756931799	193	E>K		No	ClinGen ExAC TOPMed gnomAD
CA9197886 rs754100571	194	I>V		No	ClinGen ExAC TOPMed gnomAD
rs372501161 CA9197884	195	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA404026051 rs767681090	196	G>R		No	ClinGen ExAC TOPMed gnomAD
CA9197882 rs767681090	196	G>S		No	ClinGen ExAC TOPMed gnomAD
rs540463824 CA305248522	197	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs540463824 CA404026043	197	T>N		No	ClinGen TOPMed
TCGA novel	198	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404026040 rs1174857127	198	I>V		No	ClinGen TOPMed gnomAD
CA9197881 rs760139808	200	L>F		No	ClinGen ExAC gnomAD
rs752047505 CA9197880	200	L>P		No	ClinGen ExAC gnomAD
rs766781877 CA9197879	201	K>Q		No	ClinGen ExAC gnomAD
rs1479454215 CA404026020	201	K>T		No	ClinGen TOPMed gnomAD
rs763285534 CA9197878	202	V>L		No	ClinGen ExAC gnomAD
rs763698281 CA9197876	205	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1324170868 CA404025992	206	G>R		No	ClinGen gnomAD
CA9197874 rs775007033 CA404025980	207	M>I		No	ClinGen ExAC TOPMed gnomAD
CA404025975 rs1568432441	208	P>L		No	ClinGen Ensembl
CA404025958 rs1300067917	211	R>Q		No	ClinGen gnomAD
rs745807964 CA9197872	211	R>W		No	ClinGen ExAC gnomAD
rs770883988 CA9197870	213	G>C		No	ClinGen ExAC gnomAD
rs1568432431 CA404025947	213	G>V		No	ClinGen Ensembl
rs777592017 CA9197868	215	N>S		No	ClinGen ExAC gnomAD
CA9197867 rs756452701	216	D>E		No	ClinGen ExAC gnomAD
rs1247116719 CA404025502	216	D>V		No	ClinGen TOPMed
CA9197866 rs541296010	217	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781427984 CA9197865	217	R>H		No	ClinGen ExAC TOPMed gnomAD
CA404025473 rs1241106278	218	V>G		No	ClinGen TOPMed gnomAD
CA9197863 rs751646389	218	V>L		No	ClinGen ExAC TOPMed gnomAD
rs751646389 CA9197864	218	V>M		No	ClinGen ExAC TOPMed gnomAD
CA9197861 rs370954039	221	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA404025435 rs370954039	221	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA404025415 rs1434942706	222	L>F		No	ClinGen TOPMed
rs750805869 CA9197860	223	T>S		No	ClinGen ExAC TOPMed gnomAD
rs181299841 CA305248411	224	G>D		No	ClinGen 1000Genomes
rs199993712 CA9197859	225	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199993712 CA9197858	225	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199993712 CA404025378	225	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1216557675 CA404025266	226	S>G		No	ClinGen TOPMed
CA404025236 rs1243971959	228	N>K		No	ClinGen TOPMed
TCGA novel	231	V>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767220556 CA9197836	231	V>A		No	ClinGen ExAC gnomAD
CA404025166 rs1430239712	235	D>G		No	ClinGen gnomAD
rs981194772 CA305246647	241	C>R		No	ClinGen Ensembl
rs527481947 CA305246617	242	V>A		No	ClinGen 1000Genomes
rs759195288 CA9197835	242	V>M		No	ClinGen ExAC gnomAD
rs1490195492 CA404025085	243	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs751078224 CA9197834	243	R>W		No	ClinGen ExAC TOPMed gnomAD
CA404025079 rs1247119063	244	L>F		No	ClinGen TOPMed
rs765863268 CA9197833	244	L>H		No	ClinGen ExAC gnomAD
CA404025065 rs1360420161	245	S>F		No	ClinGen gnomAD
CA305246593 rs1025421977	246	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs939578358 CA9197830	246	R>H		No	ClinGen TOPMed
CA305246549 rs939578358	246	R>P		No	ClinGen TOPMed
CA9197828 rs761767257	250	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9197827 rs761767257	250	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA9197825 COSM86175 rs376655050	251	R>C	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA9197826 rs376655050	251	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA9197824 rs747209644	251	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA404024990 rs1599550506	253	I>T		No	ClinGen Ensembl
CA9197823 rs780032228	253	I>V		No	ClinGen ExAC gnomAD
rs772126585 CA9197822	254	S>T		No	ClinGen ExAC gnomAD
CA9197821 rs746372305	257	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	258	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA305246521 rs867286512	259	D>E		No	ClinGen Ensembl
rs1165951610 CA404024898	262	F>L		No	ClinGen gnomAD
rs1175666354 CA404024862	264	L>F		No	ClinGen gnomAD
rs757753697 CA9197819	265	M>V		No	ClinGen ExAC gnomAD
TCGA novel	266	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA305246520 rs185647493	267	Y>H		No	ClinGen 1000Genomes
COSM990642 CA404024821 rs1383931855	268	R>C	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA9197818 rs754237081	268	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs778088574 CA9197817	270	S>G		No	ClinGen ExAC gnomAD
CA404024772 rs1250014372	272	Q>H		No	ClinGen gnomAD
rs1460380773 CA404024527	274	K>E		No	ClinGen gnomAD
CA9197801 rs771473495	276	L>V		No	ClinGen ExAC gnomAD
rs1349376812 CA404024472	279	I>N		No	ClinGen gnomAD
rs749746801 CA9197800	280	E>D		No	ClinGen ExAC gnomAD
rs752992308 CA9197797	284	E>G		No	ClinGen ExAC TOPMed gnomAD
CA9197798 rs369863783	284	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1408242333 CA404024401	288	H>Y		No	ClinGen gnomAD
CA9197796 COSM990639 rs779825381	290	R>C	endometrium Variant assessed as Somatic; 4.722e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs199783174 CA9197795	290	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs758579812 CA305245525	291	V>M		No	ClinGen Ensembl
CA9197793 rs752894084	292	E>K		No	ClinGen ExAC gnomAD
CA404024362 rs1471320290	293	I>V		No	ClinGen gnomAD
CA305245508 rs79123414	296	K>T		No	ClinGen Ensembl
CA305243885 rs776825672	297	A>T		No	ClinGen gnomAD
CA404024194 rs1403407362	300	Q>R		No	ClinGen gnomAD
rs550903760 CA9197771	303	K>E		No	ClinGen 1000Genomes ExAC gnomAD
rs550903760 CA404024167	303	K>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs767164789 CA9197770	303	K>T		No	ClinGen ExAC gnomAD
rs1409701973 CA404024153	304	Q>*		No	ClinGen TOPMed gnomAD
rs1409701973 CA404024154	304	Q>E		No	ClinGen TOPMed gnomAD
rs1568430568 CA404024119	307	A>V		No	ClinGen Ensembl
CA305243877 rs956347703	308	N>D		No	ClinGen Ensembl
CA404024101 rs1428065722	309	G>D		No	ClinGen gnomAD
rs370253118 CA9197768	309	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA404024087 rs766459542	311	E>*		No	ClinGen ExAC gnomAD
CA9197767 rs766459542	311	E>K		No	ClinGen ExAC gnomAD
rs1490740943 CA404024076	312	I>V		No	ClinGen gnomAD
CA9197766 rs763088273	313	S>P		No	ClinGen ExAC gnomAD
CA9197765 rs368571586	315	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs199565475 CA9197763	316	V>I		No	ClinGen ExAC TOPMed gnomAD
CA404024006 rs1221701849	319	D>G		No	ClinGen gnomAD
CA404023997 rs1370027752	320	A>D		No	ClinGen gnomAD
rs979201258 CA305243825	321	D>G		No	ClinGen Ensembl
rs778768783 CA9197759	321	D>N		No	ClinGen ExAC gnomAD
rs1026668173 CA305243818	322	S>A		No	ClinGen TOPMed
rs1353173574 CA404023973	323	P>A		No	ClinGen TOPMed gnomAD
rs756961913 CA9197758	323	P>L		No	ClinGen ExAC gnomAD
CA404023972 rs1353173574	323	P>S		No	ClinGen TOPMed gnomAD
CA404023965 rs1466666575	324	R>*		No	ClinGen gnomAD
CA9197757 rs748844229	324	R>T		No	ClinGen ExAC gnomAD
rs1205488360 CA404023944	325	F>L		No	ClinGen TOPMed
rs1485132941 CA404023949	325	F>S		No	ClinGen TOPMed
CA305243807 rs969577090	326	K>N		No	ClinGen Ensembl
rs777121547 CA9197756	329	V>M		No	ClinGen ExAC gnomAD
rs1481106374 CA404023898	330	G>D		No	ClinGen gnomAD
rs756095587 CA9197755	331	S>T		No	ClinGen ExAC gnomAD
rs752536355 CA9197754	332	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9197752 COSM3692328 rs374637915	335	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA305243780 rs754707898	336	P>L		No	ClinGen ExAC gnomAD
rs754707898 CA9197751	336	P>R		No	ClinGen ExAC gnomAD
rs867888266 CA305243787	336	P>S		No	ClinGen Ensembl
COSM3937824 CA404023851 rs1314062431	337	E>K	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
CA9197747 rs373690200	338	R>I		No	ClinGen ESP ExAC gnomAD
CA9197745 rs762390958	339	N>S		No	ClinGen ExAC gnomAD
rs1456019889 CA404023804	341	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1329358410 CA404023793	342	I>F		No	ClinGen gnomAD
CA9197744 rs776949947	342	I>T		No	ClinGen ExAC gnomAD
rs1374982028 CA404023738	346	K>E		No	ClinGen TOPMed
rs1468005115 CA404023727	346	K>M		No	ClinGen gnomAD
CA9197742 rs201123233	349	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA404023376 rs201123233	349	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs375010828 CA9197708 CA404023021	350	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs375010828 CA9197709	350	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1490250889	351	G>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs757472950 CA9197706	351	G>D		No	ClinGen ExAC TOPMed gnomAD
rs779076082 CA9197707	351	G>S		No	ClinGen ExAC gnomAD
rs1266978614 CA404022997	352	K>N		No	ClinGen gnomAD
rs1212039121 CA404022995	353	E>K		No	ClinGen gnomAD
rs1383328295 CA404022980	354	Y>C		No	ClinGen TOPMed gnomAD
rs537168983 CA9197703	357	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs537168983 CA404022947	357	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9197702 rs753185749	357	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA404022940 rs1260511526	358	A>D		No	ClinGen gnomAD
CA404022942 rs1464928603	358	A>S		No	ClinGen gnomAD
CA404022920 rs1278286066	360	F>V		No	ClinGen gnomAD
rs1222316777 CA404022904	361	G>D		No	ClinGen gnomAD
CA404022894 rs1343283349	362	L>P		No	ClinGen gnomAD
rs1568429274 CA404022882	363	P>L		No	ClinGen Ensembl
rs768006330 CA9197701	363	P>S		No	ClinGen ExAC gnomAD
rs1395575240 CA404022872	364	S>I		No	ClinGen TOPMed gnomAD
CA305242458 rs17849899	364	S>R		No	ClinGen Ensembl
rs1260545530 CA404022837	367	K>T		No	ClinGen TOPMed
rs1296233346 CA404022826	368	E>*		No	ClinGen gnomAD
TCGA novel	369	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1467123149 CA404022809	369	E>V		No	ClinGen gnomAD
CA305242454 rs968875193	372	G>S		No	ClinGen TOPMed gnomAD
CA9197697 rs761478533	373	R>W		No	ClinGen ExAC gnomAD
rs201504302 CA9197694	374	P>H		No	ClinGen ExAC TOPMed gnomAD
rs201504302 CA9197695	374	P>L		No	ClinGen ExAC TOPMed gnomAD
rs772046920 CA9197693	375	P>L		No	ClinGen ExAC TOPMed gnomAD
rs772046920 CA9197692	375	P>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	376	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404022742 rs1202522150	377	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA404022732 rs1304458781	378	V>I		No	ClinGen TOPMed
rs555968863 CA305242429	379	K>*		No	ClinGen gnomAD
CA305242423 rs762549075	383	P>H		No	ClinGen TOPMed gnomAD
CA404022669 rs1334733126	383	P>S		No	ClinGen gnomAD
rs1377592471 CA404022627	386	T>I		No	ClinGen gnomAD
rs1468147195 CA404022612	387	V>G		No	ClinGen gnomAD
rs756203484 CA9197685	387	V>I		No	ClinGen ExAC
CA404022589 rs1400232097	389	G>E		No	ClinGen TOPMed gnomAD
rs748277918 CA9197667	393	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA305242201 rs781309645	393	R>P		No	ClinGen ExAC TOPMed gnomAD
CA9197666 rs781309645	393	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9197665 rs199653684	395	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9197664 rs576127221	395	M>T		No	ClinGen 1000Genomes ExAC gnomAD
CA9197663 rs201048813	396	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA305242187 rs1051630924	400	K>R		No	ClinGen Ensembl
rs758824137 CA404022492	401	S>C		No	ClinGen ExAC TOPMed gnomAD
rs758824137 CA9197662	401	S>G		No	ClinGen ExAC TOPMed gnomAD
CA404022485 rs1226567077	402	G>R		No	ClinGen gnomAD
CA404022468 rs1277300325	404	Q>R		No	ClinGen gnomAD
CA404022464 rs200362172	405	A>P		No	ClinGen ExAC TOPMed gnomAD
CA9197661 rs200362172	405	A>T		No	ClinGen ExAC TOPMed gnomAD
CA404022458 rs1296409795	406	L>V		No	ClinGen gnomAD
TCGA novel	407	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763780863 CA9197660	407	P>S		No	ClinGen ExAC TOPMed gnomAD
CA305242163 rs763780863	407	P>T		No	ClinGen ExAC TOPMed gnomAD
CA404022447 rs1377882201	408	W>*		No	ClinGen TOPMed
rs868204855 CA305242158	409	V>F		No	ClinGen Ensembl
CA404022434 rs1302944938	410	R>C		No	ClinGen TOPMed gnomAD
CA9197659 rs760302137	410	R>H		No	ClinGen ExAC gnomAD
rs752222651 CA9197658	411	Y>*		No	ClinGen ExAC gnomAD
CA404022423 rs1599545696	412	I>V		No	ClinGen Ensembl
CA305242152 rs868307444	414	Q>K		No	ClinGen Ensembl
CA404022396 rs1278030018	416	G>S		No	ClinGen TOPMed
rs759394020 CA9197656	417	D>H		No	ClinGen ExAC TOPMed gnomAD
CA14734573 rs759394020	417	D>N		No	ClinGen ExAC TOPMed gnomAD
rs369295276 CA9197641	418	Y>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs868078539 CA305240024	419	Q>K		No	ClinGen Ensembl
CA305240018 rs989853940	419	Q>R		No	ClinGen TOPMed gnomAD
rs748318809 CA305240014	420	L>P		No	ClinGen Ensembl
rs948195308 CA305240009	421	R>C		No	ClinGen TOPMed gnomAD
rs937124062 CA404022282	421	R>H		No	ClinGen TOPMed gnomAD
rs937124062 CA305240005	421	R>P		No	ClinGen TOPMed gnomAD
rs755791511 CA9197640	422	T>N		No	ClinGen ExAC gnomAD
CA404022277 rs755791511	422	T>S		No	ClinGen ExAC gnomAD
rs752324172 CA9197639	424	S>Q		No	ClinGen ExAC gnomAD
rs766948055 CA9197638	424	S>W		No	ClinGen ExAC gnomAD
CA404022263 rs775944697 CA305239989	424	S>Y		No	ClinGen Ensembl

No associated diseases with Q9Y6Q5

3 regional properties for Q9Y6Q5

Type	Name	Position	InterPro Accession
domain	Endonuclease/exonuclease/phosphatase	5 - 304	IPR005135
domain	Zinc finger, GRF-type	463 - 514	IPR010666
binding_site	AP endonuclease 1, binding site	41 - 50	IPR020847

Functions

		Description
EC Number
Subcellular Localization	Golgi apparatus Cytoplasmic vesicle, clathrin-coated vesicle membrane; Peripheral membrane protein; Cytoplasmic side	Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

9 GO annotations of cellular component

Name	Definition
AP-1 adaptor complex	A heterotetrameric AP-type membrane coat adaptor complex that consists of beta1, gamma, mu1 and sigma1 subunits and links clathrin to the membrane surface of a vesicle; vesicles with AP-1-containing coats are normally found primarily in the trans-Golgi network. In at least humans, the AP-1 complex can be heterogeneric due to the existence of multiple subunit isoforms encoded by different genes (gamma1 and gamma2, mu1A and mu1B, and sigma1A, sigma1B and sigma1C).
clathrin-coated vesicle	A vesicle with a coat formed of clathrin connected to the membrane via one of the clathrin adaptor complexes.
cytoplasmic vesicle	A vesicle found in the cytoplasm of a cell.
cytoplasmic vesicle membrane	The lipid bilayer surrounding a cytoplasmic vesicle.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
Golgi membrane	The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
lysosomal membrane	The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm.
trans-Golgi network membrane	The lipid bilayer surrounding any of the compartments that make up the trans-Golgi network.

1 GO annotations of molecular function

Name	Definition
clathrin adaptor activity	Bringing together a cargo protein with clathrin, responsible for the formation of endocytic vesicles.

4 GO annotations of biological process

Name	Definition
basolateral protein secretion	The controlled release of proteins from a cell at the sides which interface adjacent cells and near the base.
protein targeting	The process of targeting specific proteins to particular regions of the cell, typically membrane-bounded subcellular organelles. Usually requires an organelle specific protein sequence motif.
vesicle targeting	The process in which vesicles are directed to specific destination membranes. Targeting involves coordinated interactions among cytoskeletal elements (microtubules or actin filaments), motor proteins, molecules at the vesicle membrane and target membrane surfaces, and vesicle cargo.
vesicle-mediated transport	A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane.

11 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q00776	APM1	AP-1 complex subunit mu-1-I	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q2KJ81	AP1M1	AP-1 complex subunit mu-1	Bos taurus (Bovine)	PR
Q3SYW1	AP1M2	AP-1 complex subunit mu-2	Bos taurus (Bovine)	PR
Q9BXS5	AP1M1	AP-1 complex subunit mu-1	Homo sapiens (Human)	PR
Q96CW1	AP2M1	AP-2 complex subunit mu	Homo sapiens (Human)	PR
P35585	Ap1m1	AP-1 complex subunit mu-1	Mus musculus (Mouse)	PR
Q9WVP1	Ap1m2	AP-1 complex subunit mu-2	Mus musculus (Mouse)	PR
Q32Q06	Ap1m1	AP-1 complex subunit mu-1	Rattus norvegicus (Rat)	PR
Q9SB50	AP4M	AP-4 complex subunit mu	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SAC9	AP1M1	AP-1 complex subunit mu-1	Arabidopsis thaliana (Mouse-ear cress)	PR
O22715	AP1M2	AP-1 complex subunit mu-2	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MSASAVFILD	VKGKPLISRN	YKGDVAMSKI	EHFMPLLVQR	EEEGALAPLL	SHGQVHFLWI
70	80	90	100	110	120
KHSNLYLVAT	TSKNANASLV	YSFLYKTIEV	FCEYFKELEE	ESIRDNFVIV	YELLDELMDF
130	140	150	160	170	180
GFPQTTDSKI	LQEYITQQSN	KLETGKSRVP	PTVTNAVSWR	SEGIKYKKNE	VFIDVIESVN
190	200	210	220	230	240
LLVNANGSVL	LSEIVGTIKL	KVFLSGMPEL	RLGLNDRVLF	ELTGRSKNKS	VELEDVKFHQ
250	260	270	280	290	300
CVRLSRFDND	RTISFIPPDG	DFELMSYRLS	TQVKPLIWIE	SVIEKFSHSR	VEIMVKAKGQ
310	320	330	340	350	360
FKKQSVANGV	EISVPVPSDA	DSPRFKTSVG	SAKYVPERNV	VIWSIKSFPG	GKEYLMRAHF
370	380	390	400	410	420
GLPSVEKEEV	EGRPPIGVKF	EIPYFTVSGI	QVRYMKIIEK	SGYQALPWVR	YITQSGDYQL

RTS