AiPD: Autoinhibited Protein Database

Q05084

Gene name	ICA1
Protein name	Islet cell autoantigen 1
Names	69 kDa islet cell autoantigen, ICA69, Islet cell autoantigen p69, ICAp69, p69
Species	Homo sapiens (Human)
KEGG Pathway	hsa:3382
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

242-355 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

242-355 (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 Q05084

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q05084-F1	Predicted				AlphaFoldDB

393 variants for Q05084

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA4162328 rs779789569	4	H>Q		No	ClinGen ExAC gnomAD
CA366495731 rs1447901980	4	H>Y		No	ClinGen gnomAD
CA4162326 rs756089690	5	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1485337391 CA366495722	5	K>I		No	ClinGen TOPMed gnomAD
rs752613159 CA152900337	5	K>N		No	ClinGen gnomAD
CA366495724 rs1485337391	5	K>R		No	ClinGen TOPMed gnomAD
CA366495718 rs1247505186	6	C>R		No	ClinGen TOPMed gnomAD
CA366495697 rs1432700389	7	S>R		No	ClinGen TOPMed
CA366495667 rs1312052034 COSM3833364	11	D>N	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA4162305 rs757103341	12	L>F		No	ClinGen ExAC
CA4162304 rs758294323	14	D>H		No	ClinGen ExAC TOPMed gnomAD
rs367581899 CA4162302	15	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs142514431 COSM376885 CA4162300	15	R>L	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs142514431 CA4162299	15	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA152897387 rs139717556	16	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs766937354 CA4162297	18	Q>*		No	ClinGen ExAC gnomAD
rs1345301875 CA366495617	18	Q>H		No	ClinGen TOPMed
TCGA novel	19	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4162296 rs539948818	21	S>T		No	ClinGen 1000Genomes ExAC gnomAD
rs773328271 CA4162295	22	V>I		No	ClinGen ExAC TOPMed gnomAD
rs773328271 CA366495594	22	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1181867805 CA366495585	23	V>A		No	ClinGen gnomAD
CA366495561 rs1203083746	26	M>I		No	ClinGen TOPMed
CA4162294 rs772125493	27	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA366495555 rs772125493	27	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs748434259 CA4162293	28	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA366495520 rs1393274636	31	W>C		No	ClinGen TOPMed
CA4162291 COSM1092413 rs768714490	33	T>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA366495502 rs1395487680	34	K>R		No	ClinGen TOPMed
CA4162288 rs757268313	36	A>D		No	ClinGen ExAC gnomAD
rs1326826607 CA366495490	36	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA152897317 rs1037829815	38	I>N		No	ClinGen Ensembl
CA4162286 rs777496160	40	A>V		No	ClinGen ExAC gnomAD
CA152897314 rs941798189	48	H>L		No	ClinGen TOPMed gnomAD
CA366495402 rs941798189	48	H>R		No	ClinGen TOPMed gnomAD
rs1446523014 CA366495399	49	V>I		No	ClinGen gnomAD
rs752194584 CA4162284	50	V>I		No	ClinGen ExAC gnomAD
rs202075124 CA4162283	51	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754542877 CA4162282	52	S>A		No	ClinGen ExAC gnomAD
CA4162280 rs766630394	54	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4162279 rs557314775	54	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1438901871 CA366495341	58	A>G		No	ClinGen TOPMed
rs571615865 CA4162275	59	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA152897233 rs948700129	60	L>V		No	ClinGen gnomAD
CA4162256 rs369449757	66	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA4162255 rs775583151	67	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs375558084 CA4162254	68	R>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs1432548056 CA366495241	69	T>I		No	ClinGen TOPMed gnomAD
COSM1568855 rs1432548056 CA366495244	69	T>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs142412152 CA4162252	70	C>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA366495226 rs1413485158	71	L>M		No	ClinGen TOPMed
TCGA novel	73	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA152893236 rs776621478	74	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs984959663 CA152893239	74	S>P		No	ClinGen TOPMed
CA4162249 rs778543257	76	A>G		No	ClinGen ExAC gnomAD
CA4162250 rs748071574	76	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4162247 rs748764620	77	I>V		No	ClinGen ExAC TOPMed gnomAD
CA4162245 rs755725908	81	Q>P		No	ClinGen ExAC gnomAD
rs1490515210 CA366495032	83	R>G		No	ClinGen gnomAD
rs750829019 CA4162244	84	I>L		No	ClinGen ExAC TOPMed gnomAD
rs781514918 CA4162243	84	I>M		No	ClinGen ExAC gnomAD
rs750829019 CA366495014	84	I>V		No	ClinGen ExAC TOPMed gnomAD
CA4162242 rs757819272	85	C>W		No	ClinGen ExAC gnomAD
rs1291847790 CA366493772	86	F>C		No	ClinGen gnomAD
CA366493770 rs1224710245	86	F>L		No	ClinGen gnomAD
rs1354128374 CA366493759	87	L>F		No	ClinGen gnomAD
CA4162200 rs762927341	88	S>C		No	ClinGen ExAC gnomAD
CA4162201 rs374255191	88	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA366493734 rs1280264550	90	E>K		No	ClinGen gnomAD
rs775039808 CA4162199	92	N>D		No	ClinGen ExAC gnomAD
rs745319774 CA4162197	93	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs745319774 CA4162198	93	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA366493654 rs1407346506	94	L>P		No	ClinGen gnomAD
rs1389182542 CA366493650	95	G>R		No	ClinGen gnomAD
rs1177677069 CA366493639	96	K>E		No	ClinGen TOPMed
rs1427501767 CA366493619	97	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA366493608 rs1408473156	98	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs776283943 CA4162196	99	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs747367779 CA4162194	101	Q>E		No	ClinGen ExAC gnomAD
rs750279977 CA152886299	102	G>C		No	ClinGen Ensembl
CA4162192 rs758875114	103	F>L		No	ClinGen ExAC
rs748670869 CA4162191	104	Q>R		No	ClinGen ExAC gnomAD
rs371321212 CA4162190	105	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA4162189 rs371321212	105	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs556581184 CA4162188	106	K>E		No	ClinGen 1000Genomes ExAC gnomAD
rs756318330 CA4162186	106	K>N		No	ClinGen ExAC gnomAD
CA4162187 rs766727658	106	K>R		No	ClinGen ExAC gnomAD
rs1563071990 CA366493478	107	T>I		No	ClinGen Ensembl
rs866994125 CA152886203	107	T>P		No	ClinGen Ensembl
rs763938730 CA4162184	109	A>P		No	ClinGen ExAC gnomAD
rs762866192 CA4162183	112	M>I		No	ClinGen ExAC gnomAD
rs1222648372 CA366493380	113	M>V		No	ClinGen TOPMed
CA4162181 rs765105039	115	A>G		No	ClinGen ExAC gnomAD
CA4162182 rs752635842	115	A>T		No	ClinGen ExAC TOPMed gnomAD
rs765105039 CA366493341	115	A>V		No	ClinGen ExAC gnomAD
rs776081036 CA4162179	119	A>P		No	ClinGen ExAC
rs1323406542 CA366493245	124	S>C		No	ClinGen gnomAD
CA366493243 rs1323406542	124	S>F		No	ClinGen gnomAD
rs1212469022 CA366493239	125	Q>E		No	ClinGen TOPMed
CA4162148 rs375308073	127	R>S		No	ClinGen ESP ExAC TOPMed
CA4162147 rs137948932	131	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1193407 rs778660693 CA4162146	131	R>Q	lung Variant assessed as Somatic; 4.624e-05 impact. liver [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA4162145 rs754964091	132	N>S		No	ClinGen ExAC TOPMed gnomAD
CA366492981 rs1238147424	133	P>L		No	ClinGen TOPMed gnomAD
rs866165571 CA152883686	133	P>S		No	ClinGen gnomAD
rs1216728776 CA366492964	136	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs150710019 CA4162144	136	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1286319051 CA366492954	137	F>L		No	ClinGen gnomAD
rs1334466083 CA366492941	139	Q>R		No	ClinGen TOPMed
rs141168942 CA4162141	145	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs755663034 CA4162142	145	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs767227888 CA4162140	146	H>R		No	ClinGen ExAC TOPMed gnomAD
CA366492889 rs774914827	147	R>P		No	ClinGen ExAC TOPMed gnomAD
CA4162138 rs774914827	147	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs761524154 CA4162139	147	R>W		No	ClinGen ExAC gnomAD
rs763342256 CA4162136	148	A>S		No	ClinGen ExAC gnomAD
rs763342256 CA152883669	148	A>T		No	ClinGen ExAC gnomAD
CA152883657 rs932475089	155	T>S		No	ClinGen Ensembl
CA4162134 rs372247535	158	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs372247535 CA4162133	158	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA366492820 COSM1728720 rs1193995840	158	R>H	Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA366492822 rs1193995840	158	R>L		No	ClinGen TOPMed gnomAD
rs919807001 CA152883641	159	M>V		No	ClinGen Ensembl
rs1489279140 CA366492797	161	Q>H		No	ClinGen gnomAD
COSM1092247 rs776544773 CA4162132	162	C>R	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs771195480 CA4162131	164	T>M		No	ClinGen ExAC gnomAD
rs1164936278 CA366492759	167	R>G		No	ClinGen TOPMed
CA366492741 rs1360757269 COSM402844	168	G>A	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA4162129 rs200206180	170	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1270349976 CA366492707	172	W>R		No	ClinGen gnomAD
rs371492455 CA366492656	175	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs148267518 CA4162127	176	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1405532075 CA366492645	177	S>T		No	ClinGen gnomAD
rs746605029 CA152883582	178	Q>P		No	ClinGen TOPMed gnomAD
rs551815872 CA152883572	180	L>R		No	ClinGen Ensembl
CA4162123 rs537806524	183	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1295425224 CA366492577	183	D>H		No	ClinGen TOPMed
rs146025699 CA152883552	185	Y>C		No	ClinGen 1000Genomes gnomAD
CA4162122 rs757039269	186	K>N		No	ClinGen ExAC gnomAD
CA366492536 rs1563056722	186	K>R		No	ClinGen Ensembl
rs1372997993 CA366492532	187	Q>E		No	ClinGen gnomAD
CA152883543 rs1002295619	188	M>I		No	ClinGen Ensembl
CA366492507 rs1204682485	188	M>K		No	ClinGen TOPMed
TCGA novel	189	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4162121 rs374280842	190	K>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4162119 rs763434516	193	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1255154136 CA366492435	193	K>N		No	ClinGen TOPMed
CA366497212 rs1469539235	194	V>L		No	ClinGen TOPMed
rs952572650 CA152887879	196	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs765509427 CA4162098	197	Q>R		No	ClinGen ExAC gnomAD
rs760153189 CA4162097	199	R>C	Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1025651513 CA152887871	199	R>H		No	ClinGen TOPMed gnomAD
rs754301457 CA4162096	200	L>F		No	ClinGen ExAC gnomAD
CA4162095 rs766811711	201	A>T		No	ClinGen ExAC gnomAD
rs760763922 CA4162094	203	K>E		No	ClinGen ExAC gnomAD
rs747841314	204	N>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA366497151 rs1330868833	204	N>Y		No	ClinGen TOPMed gnomAD
rs772473952 CA4162090	206	D>E		No	ClinGen ExAC TOPMed gnomAD
rs761918023 CA4162089	207	K>E		No	ClinGen ExAC gnomAD
rs761918023 CA366497130	207	K>Q		No	ClinGen ExAC gnomAD
CA366497127 rs1174011417	207	K>R		No	ClinGen gnomAD
CA4162087 rs769481318	209	K>E		No	ClinGen ExAC gnomAD
rs745618958 CA4162086	210	M>L		No	ClinGen ExAC TOPMed gnomAD
rs781302996 CA4162085	210	M>T		No	ClinGen ExAC gnomAD
CA4162084 rs770953752	211	D>N		No	ClinGen ExAC gnomAD
CA366497084 rs1484011437	213	C>F		No	ClinGen gnomAD
CA366497064 rs1483965836	216	V>M		No	ClinGen TOPMed
CA4162082 rs138064847	217	D>Y		No	ClinGen ESP ExAC gnomAD
rs978771945 CA152887782	221	A>T		No	ClinGen TOPMed
CA4162078 rs374891501	222	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1483701187 CA366497007	224	C>W		No	ClinGen TOPMed
rs17847180 CA152887770	226	L>I		No	ClinGen Ensembl
rs1396874414 CA366496988	227	L>F		No	ClinGen gnomAD
CA366496974 rs1381548654	229	H>Q	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1032440988 CA366496972	230	M>L		No	ClinGen gnomAD
CA152887757 rs1032440988	230	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA152887753 rs879048330	233	T>A		No	ClinGen TOPMed
CA366496804 rs1584689574	236	T>S		No	ClinGen Ensembl
rs1190810292 CA366496782	237	T>S		No	ClinGen gnomAD
COSM1313318 CA366496771 rs1487937381	238	L>V	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1267887767 CA366496722	241	F>L		No	ClinGen gnomAD
rs1211426484 CA366496710	242	W>*		No	ClinGen gnomAD
rs778450566 CA4162058	242	W>C		No	ClinGen ExAC TOPMed
rs754615362 CA4162057	246	S>F		No	ClinGen ExAC
rs1264633016 CA366496605	247	H>Q		No	ClinGen gnomAD
rs749691714 CA4162056	247	H>R		No	ClinGen ExAC gnomAD
CA4162054 rs780372685	249	M>V		No	ClinGen ExAC gnomAD
CA366496563 rs1280198189	250	A>G		No	ClinGen gnomAD
CA4162053 rs756671196	251	A>G		No	ClinGen ExAC gnomAD
CA152886052 rs967842073	253	H>N		No	ClinGen Ensembl
rs1326365503 CA366496529	253	H>P		No	ClinGen gnomAD
rs1326365503 CA366496528	253	H>R		No	ClinGen gnomAD
TCGA novel	254	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4162052 rs750925155	254	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1584688599 CA366496510	255	S>R		No	ClinGen Ensembl
rs768011171 CA4162051	257	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA366496492 rs1293275941	258	G>C		No	ClinGen TOPMed gnomAD
rs1022191764 CA152886012	259	Y>C		No	ClinGen TOPMed gnomAD
rs1464009418 CA366496479	260	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA4162049 rs200931331	260	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA366496469 rs1167919254	261	P>L		No	ClinGen gnomAD
rs1295831600 CA366496464	262	Y>C		No	ClinGen gnomAD
rs1472021531 CA366496467	262	Y>H		No	ClinGen TOPMed
CA366496453 TCGA novel rs1584687986	263	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
rs1163109382 CA366496447	264	F>C		No	ClinGen TOPMed
CA366496433 rs1418990496	266	T>I		No	ClinGen TOPMed
TCGA novel	266	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1304624491 CA366495215	270	L>F		No	ClinGen TOPMed
CA4161948 rs774638494	272	D>E		No	ClinGen ExAC gnomAD
CA4161949 rs146989360	272	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1562640261 CA366495162	273	P>A		No	ClinGen Ensembl
rs768860239 CA4161947	273	P>R		No	ClinGen ExAC gnomAD
CA152875158 rs867750017	274	M>I		No	ClinGen Ensembl
rs1361425781 CA366495136	274	M>K		No	ClinGen gnomAD
rs1234731853 CA366495141	274	M>L		No	ClinGen gnomAD
CA366495066 CA366495070 rs1172363522	276	K>N		No	ClinGen TOPMed gnomAD
rs1356515413 CA366495091	276	K>Q		No	ClinGen TOPMed gnomAD
rs756259786 CA4161944	279	E>G		No	ClinGen ExAC gnomAD
rs746872019 CA152875153	283	K>N		No	ClinGen ExAC gnomAD
CA366494875 rs1259968698	287	N>S		No	ClinGen TOPMed
CA366494827 rs1483975724	289	Q>H		No	ClinGen TOPMed gnomAD
CA366494832 rs1181960029	289	Q>P		No	ClinGen TOPMed gnomAD
CA366494781 rs1434568099	291	S>N		No	ClinGen TOPMed
rs1434568099 CA366494782	291	S>T		No	ClinGen TOPMed
CA4161940 rs142395028	292	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA366494722 rs1372113374	293	D>E		No	ClinGen TOPMed
rs1445096342 CA366494744	293	D>H		No	ClinGen gnomAD
CA366494719 rs1475485050	294	A>T		No	ClinGen TOPMed
CA4161939 rs201144120	295	A>V		No	ClinGen ExAC TOPMed gnomAD
rs375172803 CA4161937	296	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA4161935 rs753243541	297	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA4161936 rs754543513	297	Q>R		No	ClinGen ExAC TOPMed
rs1315383464 CA366494634	298	E>K		No	ClinGen gnomAD
rs773767906 CA4161933	299	P>L		No	ClinGen ExAC TOPMed gnomAD
CA4161932 rs773767906	299	P>R		No	ClinGen ExAC TOPMed gnomAD
rs373265813 CA4161934	299	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA4161929 rs150396130	300	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA152875138 rs866013593	301	Q>*		No	ClinGen Ensembl
rs768994853 CA366494558	301	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA4161928 rs768994853	301	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA366493634 rs267601580	304	S>*		No	ClinGen gnomAD
CA152873786 rs267601580	304	S>L		No	ClinGen gnomAD
rs1484945766 CA366493623	305	L>F		No	ClinGen gnomAD
rs1584462751 CA366493611	306	E>G		No	ClinGen Ensembl
CA4161879 COSM1452262 rs570072277	311	R>C	large_intestine Variant assessed as Somatic; 4.679e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs769814593 CA4161877	311	R>H		No	ClinGen ExAC TOPMed gnomAD
rs769814593 CA4161878	311	R>L		No	ClinGen ExAC TOPMed gnomAD
rs780835255 CA4161876	314	S>F		No	ClinGen ExAC gnomAD
rs780835255 CA4161875	314	S>Y		No	ClinGen ExAC gnomAD
CA366493471 rs1338529928	316	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1232297918 CA366493459	316	S>N		No	ClinGen Ensembl
rs1243771074 CA366493450	316	S>R		No	ClinGen TOPMed
CA4161874 rs757035553	317	F>C		No	ClinGen ExAC gnomAD
rs1315385883 CA366493388	318	K>N		No	ClinGen TOPMed
rs1340626169 CA366493384	319	T>A		No	ClinGen TOPMed gnomAD
CA366492745 rs1562608959	319	T>S		No	ClinGen Ensembl
CA366492676 rs1167224145	323	K>R		No	ClinGen gnomAD
CA4161858 rs776642035	324	S>G		No	ClinGen ExAC gnomAD
TCGA novel	324	S>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770575924 CA4161857	329	L>S		No	ClinGen ExAC gnomAD
rs1406812169 CA366492562	330	D>N		No	ClinGen TOPMed
TCGA novel	331	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1387435592 CA366492512	333	S>C		No	ClinGen TOPMed
rs1387435592 CA366492511	333	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA4161856 rs746475677	334	T>K		No	ClinGen ExAC TOPMed gnomAD
CA366492485 rs1451852284	335	H>Q		No	ClinGen gnomAD
CA4161855 rs777318135	336	T>A		No	ClinGen ExAC gnomAD
CA152872069 rs1015034853	336	T>N		No	ClinGen TOPMed gnomAD
CA366492474 rs372145355	337	A>S		No	ClinGen ESP ExAC gnomAD
CA4161854 rs372145355	337	A>T		No	ClinGen ESP ExAC gnomAD
CA4161853 rs527352162	337	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1362873361 CA366492448	339	S>T		No	ClinGen gnomAD
CA4161818 rs151323218	342	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760644035 CA4161819	342	I>V		No	ClinGen ExAC gnomAD
CA366492393 rs1297677039	343	D>G		No	ClinGen gnomAD
rs1211581722 CA366492366	347	D>G		No	ClinGen TOPMed gnomAD
rs917797466 CA152871907	347	D>Y		No	ClinGen TOPMed
CA4161816 rs761173764	348	M>K		No	ClinGen ExAC TOPMed gnomAD
CA366492362 rs771619771 CA366492361	348	M>L		No	ClinGen ExAC TOPMed gnomAD
rs771619771 CA4161817	348	M>V		No	ClinGen ExAC TOPMed gnomAD
CA366492323 rs1347456064	353	G>D		No	ClinGen gnomAD
CA4161815 rs143861719 COSM485604	353	G>R	kidney [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA4161792 rs201153458	355	C>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA4161791 rs201153458	355	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs140184228 CA4161789	357	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA4161788 rs777982679	358	P>L		No	ClinGen ExAC gnomAD
rs777982679 CA366491411	358	P>R		No	ClinGen ExAC gnomAD
rs748390113 CA4161786	360	A>S		No	ClinGen ExAC gnomAD
rs748390113 CA4161787	360	A>T		No	ClinGen ExAC gnomAD
rs1220787473 CA366491400	360	A>V		No	ClinGen TOPMed gnomAD
rs750147258 CA4161783	362	T>A		No	ClinGen ExAC TOPMed gnomAD
CA366491392 rs1337133483	362	T>N		No	ClinGen gnomAD
CA366491393 rs750147258	362	T>P		No	ClinGen ExAC TOPMed gnomAD
rs750147258 CA4161784	362	T>S		No	ClinGen ExAC TOPMed gnomAD
CA366491386 rs1244717026	363	P>L		No	ClinGen TOPMed gnomAD
rs1271340853 CA366491387	363	P>S		No	ClinGen gnomAD
rs369620396 CA4161780	364	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA366491374 rs1380839923	365	P>S		No	ClinGen TOPMed gnomAD
rs1291261598 CA366491359	367	G>D		No	ClinGen TOPMed
CA4161778 rs375337869	369	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA366491350 rs1357424526	369	D>N		No	ClinGen gnomAD
rs570981190 CA152866097	370	K>R		No	ClinGen 1000Genomes
rs1326218048 CA366491335	371	D>H		No	ClinGen gnomAD
CA4161777 rs775230407	371	D>V		No	ClinGen ExAC
rs764755255 CA4161776	372	D>V		No	ClinGen ExAC gnomAD
rs759983789 CA152866092	375	L>M		No	ClinGen ExAC TOPMed gnomAD
CA366491294 rs1584287166	377	S>R		No	ClinGen Ensembl
CA366491293 rs1168084270	378	E>K		No	ClinGen TOPMed gnomAD
CA366491265 rs1427749616	381	N>I		No	ClinGen TOPMed gnomAD
CA152866082 rs111353851	381	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs773792483 CA366491261	382	A>D		No	ClinGen ExAC gnomAD
rs1057238115 CA152866073	382	A>P		No	ClinGen TOPMed
CA4161771 rs773792483	382	A>V		No	ClinGen ExAC gnomAD
CA152866068 rs937491753	383	S>A		No	ClinGen TOPMed
CA366491251 rs1469947725	384	S>F		No	ClinGen gnomAD
CA4161769 rs748192065	385	L>F		No	ClinGen ExAC TOPMed gnomAD
rs761790126 CA152866059	388	G>C		No	ClinGen TOPMed gnomAD
CA152866060 rs761790126	388	G>R		No	ClinGen TOPMed gnomAD
rs761790126 CA152866062	388	G>S		No	ClinGen TOPMed gnomAD
rs1270882657 CA366491220	389	E>G		No	ClinGen TOPMed
CA4161767 COSM161651 rs755126133	389	E>K	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA152866038 rs776380778	390	F>L		No	ClinGen TOPMed gnomAD
CA366491186 rs1236054330	393	E>D		No	ClinGen gnomAD
CA366491179 rs1368244235	394	W>*		No	ClinGen TOPMed gnomAD
CA366491178 rs1368244235	394	W>C		No	ClinGen TOPMed gnomAD
CA366491176 rs1423942831	395	A>T		No	ClinGen gnomAD
rs757253043 CA4161764	396	A>T		No	ClinGen ExAC gnomAD
CA152866025 rs202165514	396	A>V		No	ClinGen 1000Genomes
rs763971002 CA4161762	401	G>D		No	ClinGen ExAC gnomAD
CA4161763 rs35459366	401	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs548213145 CA4161760	404	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4161759 rs764987341	409	T>A		No	ClinGen ExAC gnomAD
rs371554720 CA4161758	409	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs777116490 CA4161757	410	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1438501951 CA366491081	410	M>V		No	ClinGen gnomAD
CA366491070 rs1483218509	411	A>V		No	ClinGen gnomAD
TCGA novel	413	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366491058 rs1200952454	414	E>K		No	ClinGen gnomAD
CA366491048 rs1281500654	415	P>A		No	ClinGen TOPMed gnomAD
CA366491050 rs1281500654	415	P>T		No	ClinGen TOPMed gnomAD
rs748302837 CA4161752	417	P>L	Variant assessed as Somatic; 9.24e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4161753 rs772669398	417	P>S		No	ClinGen ExAC TOPMed gnomAD
CA4161754 rs772669398	417	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1257722085 CA366491019	419	A>V		No	ClinGen gnomAD
CA152865959 rs774578683	421	T>A		No	ClinGen ExAC gnomAD
rs1217019730 CA366491009	421	T>R		No	ClinGen gnomAD
CA4161751 rs774578683	421	T>S		No	ClinGen ExAC gnomAD
rs200033764 CA4161750	422	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	424	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366490990 rs1263664076	424	G>V		No	ClinGen TOPMed
CA152865939 rs918369778	425	F>C		No	ClinGen Ensembl
TCGA novel	428	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1432686733 CA366490950	431	L>V		No	ClinGen gnomAD
rs150509994 CA152865926	434	N>S		No	ClinGen ESP TOPMed
rs376906328 CA4161746	435	M>I		No	ClinGen ESP ExAC gnomAD
rs770733827 CA4161747	435	M>L		No	ClinGen ExAC TOPMed gnomAD
CA152865923 rs770733827	435	M>V		No	ClinGen ExAC TOPMed gnomAD
CA366490898 rs1365614275	437	D>E		No	ClinGen gnomAD
CA4161745 rs777725792	437	D>N		No	ClinGen ExAC gnomAD
rs752306149 CA4161743	438	L>F		No	ClinGen ExAC gnomAD
CA4161744 rs544648114	438	L>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA152865891 rs368311237	439	Q>R		No	ClinGen ESP TOPMed
CA366490884 rs1258770440	440	A>P		No	ClinGen gnomAD
CA4161742 rs778279321	440	A>V		No	ClinGen ExAC gnomAD
rs868309360 CA152865887	441	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA366496917 rs1584064997	444	E>D		No	ClinGen Ensembl
rs367690672 CA152902132	446	A>T		No	ClinGen Ensembl
CA366496898 CA366496897 rs1167112414	447	K>N		No	ClinGen TOPMed gnomAD
rs762170567 CA4161712	451	D>G		No	ClinGen ExAC gnomAD
rs752021479 CA4161711	453	T>I		No	ClinGen ExAC gnomAD
rs974184922 CA152902108	457	S>C		No	ClinGen TOPMed gnomAD
CA366496826 rs1246544691	458	L>P		No	ClinGen TOPMed
CA366496812 rs267601579	459	F>L		No	ClinGen ExAC TOPMed gnomAD
rs770492846 CA152902100	460	A>P		No	ClinGen ExAC gnomAD
CA4161708 rs770492846	460	A>T		No	ClinGen ExAC gnomAD
CA4161705 rs138213995	463	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs771772715 CA4161704	465	L>F		No	ClinGen ExAC gnomAD
rs1584063419 CA366496723	468	P>T		No	ClinGen Ensembl
rs1254784334 CA366496702	469	D>E		No	ClinGen TOPMed
CA366496706 rs1337279368	469	D>G		No	ClinGen gnomAD
rs75595522 CA152902078	470	A>D		No	ClinGen Ensembl
TCGA novel	470	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4161703 rs747930598	472	G>V		No	ClinGen ExAC gnomAD
CA366496674 rs1227951518	473	K>E		No	ClinGen gnomAD
TCGA novel	473	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748858528 CA4161700	475	D>G		No	ClinGen ExAC gnomAD
CA366496653 rs768609861	475	D>H		No	ClinGen ExAC TOPMed gnomAD
CA4161701 rs768609861 COSM1698370	475	D>N	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA366496642 rs1349345336	476	K>E		No	ClinGen gnomAD
rs755899625 CA4161698 COSM1698369	479	E>K	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4161696 rs780935406	481	L>F		No	ClinGen ExAC gnomAD
rs1396455534 CA366496555	482	N>K		No	ClinGen gnomAD
CA366496560 rs1454466914	482	N>S		No	ClinGen gnomAD

No associated diseases with Q05084

2 regional properties for Q05084

Type	Name	Position	InterPro Accession
domain	Islet cell autoantigen Ica1, C-terminal	261 - 483	IPR006723
domain	Arfaptin homology (AH) domain	22 - 254	IPR010504

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytosol Golgi apparatus membrane ; Peripheral membrane protein Cytoplasmic vesicle, secretory vesicle membrane ; Peripheral membrane protein Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane ; Peripheral membrane protein	Predominantly cytosolic Also exists as a membrane-bound form which has been found associated with synaptic vesicles and also with the Golgi complex and immature secretory granules
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
anchoring junction	A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.
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.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
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.
secretory granule membrane	The lipid bilayer surrounding a secretory granule.
synaptic vesicle membrane	The lipid bilayer surrounding a synaptic vesicle.

2 GO annotations of molecular function

Name	Definition
membrane curvature sensor activity	Preferential binding of proteins on curved membranes. The binding to curved membranes by insertion (aka wedging) to curved membranes is mediated by both the hydrophobic and hydrophilic faces of the helix of membrane curvature sensing (MCS) proteins.
protein domain specific binding	Binding to a specific domain of a protein.

3 GO annotations of biological process

Name	Definition
neurotransmitter transport	The directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Neurotransmitters are any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell.
regulation of insulin secretion	Any process that modulates the frequency, rate or extent of the regulated release of insulin.
regulation of transport	Any process that modulates the frequency, rate or extent of the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q3TY65	Ica1l	Islet cell autoantigen 1-like protein	Mus musculus (Mouse)	PR
Q6RUG5	Ica1l	Islet cell autoantigen 1-like protein	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MSGHKCSYPW	DLQDRYAQDK	SVVNKMQQKY	WETKQAFIKA	TGKKEDEHVV	ASDADLDAKL
70	80	90	100	110	120
ELFHSIQRTC	LDLSKAIVLY	QKRICFLSQE	ENELGKFLRS	QGFQDKTRAG	KMMQATGKAL
130	140	150	160	170	180
CFSSQQRLAL	RNPLCRFHQE	VETFRHRAIS	DTWLTVNRME	QCRTEYRGAL	LWMKDVSQEL
190	200	210	220	230	240
DPDLYKQMEK	FRKVQTQVRL	AKKNFDKLKM	DVCQKVDLLG	ASRCNLLSHM	LATYQTTLLH
250	260	270	280	290	300
FWEKTSHTMA	AIHESFKGYQ	PYEFTTLKSL	QDPMKKLVEK	EEKKKINQQE	STDAAVQEPS
310	320	330	340	350	360
QLISLEEENQ	RKESSSFKTE	DGKSILSALD	KGSTHTACSG	PIDELLDMKS	EEGACLGPVA
370	380	390	400	410	420
GTPEPEGADK	DDLLLLSEIF	NASSLEEGEF	SKEWAAVFGD	GQVKEPVPTM	ALGEPDPKAQ
430	440	450	460	470	480
TGSGFLPSQL	LDQNMKDLQA	SLQEPAKAAS	DLTAWFSLFA	DLDPLSNPDA	VGKTDKEHEL

LNA