AiPD: Autoinhibited Protein Database

O75131

Gene name	CPNE3
Protein name	Copine-3
Names	Copine III
Species	Homo sapiens (Human)
KEGG Pathway	hsa:8895
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

70-155 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

70-155 (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 O75131

Entry ID	Method	Resolution	Chain	Position	Source
AF-O75131-F1	Predicted				AlphaFoldDB

502 variants for O75131

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA180337333 rs967728616	3	A>V		No	ClinGen TOPMed gnomAD
rs760106042 CA4799138	5	C>G		No	ClinGen ExAC gnomAD
CA4799139 rs772462656	6	V>D		No	ClinGen ExAC gnomAD
CA4799140 rs775582631	7	T>A		No	ClinGen ExAC TOPMed gnomAD
CA4799141 rs760693468	7	T>R		No	ClinGen ExAC gnomAD
rs145366656 CA180337366	8	K>E		No	ClinGen 1000Genomes
CA180337369 rs896777978	9	V>M		No	ClinGen TOPMed gnomAD
rs1012872545 CA180337378	10	A>T		No	ClinGen TOPMed
rs375450963 CA4799142	10	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765180312 CA4799145	13	V>A		No	ClinGen ExAC gnomAD
CA371439791 rs1400654103	13	V>I		No	ClinGen TOPMed
CA371439800 rs1327082540	14	S>C		No	ClinGen TOPMed gnomAD
CA371439798 rs1318297207	14	S>P		No	ClinGen gnomAD
rs1432919633 CA371439809	15	C>W		No	ClinGen gnomAD
CA371439811 rs1301384868	16	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1370437651 CA371439821	17	N>K		No	ClinGen gnomAD
CA4799147 rs750381139	17	N>S		No	ClinGen ExAC TOPMed
CA371439824 rs758284766	18	L>I		No	ClinGen ExAC TOPMed
CA4799148 rs758284766	18	L>V		No	ClinGen ExAC TOPMed
CA4799149 rs368451778	19	L>S		No	ClinGen ESP ExAC gnomAD
TCGA novel	19	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4799150 rs138817561	20	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs138817561 CA180337462	20	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	22	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754475318 CA4799151	23	I>T		No	ClinGen ExAC gnomAD
rs1239873320 CA371439857	23	I>V		No	ClinGen TOPMed
rs747857249 CA4799153	24	G>E		No	ClinGen ExAC gnomAD
rs780877196 CA4799152	24	G>R		No	ClinGen ExAC gnomAD
rs1192316757 CA371439879	26	K>N		No	ClinGen TOPMed
CA4799154 rs771281496	31	C>Y		No	ClinGen ExAC gnomAD
CA4799156 rs746249083	34	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1379702999 CA371439950	37	T>A		No	ClinGen gnomAD
CA371439958 rs1191875553	38	S>N		No	ClinGen gnomAD
rs757372179 CA4799158	43	Y>*		No	ClinGen ExAC
CA4799159 rs775895815	43	Y>H		No	ClinGen ExAC gnomAD
CA4799160 rs760779879	44	E>K		No	ClinGen ExAC gnomAD
rs369722706 CA4799179	47	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs376221396 CA4799180	47	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA180337965 rs776782136	48	T>A		No	ClinGen ExAC TOPMed gnomAD
CA4799181 rs776782136	48	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1233326563 CA371440151	49	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1334101919 CA371440147	49	E>K		No	ClinGen gnomAD
rs983743852 CA371440167	50	R>S		No	ClinGen TOPMed gnomAD
rs748251362 CA4799182	51	I>L		No	ClinGen ExAC TOPMed gnomAD
CA4799183 rs770091458	51	I>T		No	ClinGen ExAC gnomAD
CA371440214 rs1433609498	52	K>N		No	ClinGen TOPMed
rs149163982 CA4799184	55	L>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs149163982 CA4799185	55	L>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4799186 rs766147441	56	N>S		No	ClinGen ExAC TOPMed gnomAD
CA4799187 rs369417999	57	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4799188 rs759326479	58	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA180337990 rs955361934	58	Q>R		No	ClinGen TOPMed gnomAD
rs1371420071 CA371440343	60	S>C		No	ClinGen TOPMed gnomAD
CA371440336 rs1166919006	60	S>P		No	ClinGen gnomAD
rs1168756011 CA371440362	61	K>N		No	ClinGen gnomAD
rs1461668798 CA371440356	61	K>R		No	ClinGen TOPMed gnomAD
CA371440372 rs1431352482	62	T>I		No	ClinGen gnomAD
CA4799190 rs752157430	62	T>P		No	ClinGen ExAC gnomAD
rs755656496 CA4799191	63	F>C		No	ClinGen ExAC gnomAD
CA371440395 rs1485418942	64	I>V		No	ClinGen TOPMed
rs1396553257 CA371440456	67	Y>D		No	ClinGen gnomAD
CA4799193 CA371440483 rs753484968	68	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA371440471 rs1218559453	68	Y>H		No	ClinGen TOPMed
rs373300639 CA4799194	69	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA371440500 rs1226199317	70	E>A		No	ClinGen gnomAD
CA371440502 rs1226199317	70	E>V		No	ClinGen gnomAD
TCGA novel	71	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	71	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1563688344 CA371440521	72	V>L		No	ClinGen Ensembl
rs1339580783 CA371440621	77	F>L		No	ClinGen gnomAD
CA4799197 rs747401693	79	V>A		No	ClinGen ExAC TOPMed gnomAD
CA4799196 rs747401693	79	V>D		No	ClinGen ExAC TOPMed gnomAD
rs747401693 CA4799198	79	V>G		No	ClinGen ExAC TOPMed gnomAD
CA180338055 rs748469793	82	I>N		No	ClinGen Ensembl
rs748198037 CA4799199	82	I>V		No	ClinGen ExAC gnomAD
CA4799201 rs143209735	83	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1259706769 CA371440739	84	N>K		No	ClinGen gnomAD
CA4799202 rs749541586	86	T>A		No	ClinGen ExAC gnomAD
CA371440776 rs771190545	87	I>F		No	ClinGen ExAC TOPMed gnomAD
CA180338104 rs1051210316	87	I>T		No	ClinGen Ensembl
CA4799203 rs771190545	87	I>V		No	ClinGen ExAC TOPMed gnomAD
CA371440787 rs1392217743	88	E>A		No	ClinGen gnomAD
rs1433101678 CA371440795	89	L>V		No	ClinGen gnomAD
CA371440822 rs1171464853	91	D>G		No	ClinGen gnomAD
rs559781111 CA4799204	92	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA371440922 rs1383526648	98	C>*		No	ClinGen Ensembl
rs775449265 CA4799207	98	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA371440932 rs1165176284	99	E>G		No	ClinGen TOPMed
rs1297731847 CA371440958	101	T>I		No	ClinGen gnomAD
CA371440979 rs1303111404	103	G>A		No	ClinGen TOPMed gnomAD
rs1303111404 CA371440976	103	G>E		No	ClinGen TOPMed gnomAD
CA371440978 rs1303111404	103	G>V		No	ClinGen TOPMed gnomAD
CA371440983 rs1398461193	104	Q>E		No	ClinGen Ensembl
CA180339885 rs182868985	107	S>P		No	ClinGen 1000Genomes TOPMed gnomAD
CA180339889 rs755559079	110	K>R		No	ClinGen Ensembl
CA4799226 rs779231067	113	R>*		No	ClinGen ExAC
CA4799228 rs745622693	113	R>P		No	ClinGen ExAC TOPMed gnomAD
CA4799227 rs745622693	113	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs775396018 CA4799229	115	L>M		No	ClinGen ExAC gnomAD
CA180339971 rs949154766	116	V>M		No	ClinGen TOPMed
rs1227694969 CA371441338	117	M>T		No	ClinGen TOPMed
CA371441346 rs1362351644	118	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1213272293 CA371441354	118	K>R		No	ClinGen gnomAD
rs768582756 CA4799231	119	T>A		No	ClinGen ExAC gnomAD
rs377733818 CA4799232	121	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA371441387 rs1432700719	122	P>T		No	ClinGen TOPMed
rs761404417 CA4799233	124	G>R		No	ClinGen ExAC TOPMed gnomAD
CA371441444 rs1405534696	127	S>N		No	ClinGen gnomAD
rs764755747 CA4799234	127	S>R		No	ClinGen ExAC TOPMed gnomAD
CA371441464 rs1159905595	128	I>T		No	ClinGen gnomAD
CA4799235 rs76328401	129	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1424400537 CA371441811	131	S>*		No	ClinGen TOPMed
CA371441814 rs1354037360	132	A>S		No	ClinGen gnomAD
TCGA novel	134	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1414722806 CA371441829	134	E>K		No	ClinGen gnomAD
rs772725842 CA4799253	135	I>M		No	ClinGen ExAC TOPMed gnomAD
CA4799254 rs532626923	136	K>*		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	141	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4799255 rs187667125	143	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4799256 rs775949254	145	M>V		No	ClinGen ExAC gnomAD
rs1191201530 CA371441914	146	E>K		No	ClinGen TOPMed
rs1276528712 CA371441930	148	R>K		No	ClinGen TOPMed gnomAD
rs1276528712 CA371441931	148	R>T		No	ClinGen TOPMed gnomAD
CA4799257 rs761153864	149	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1473519502 CA371441953	151	D>E		No	ClinGen gnomAD
rs1342567625 CA371441948	151	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs569053625 CA4799260	152	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA371441963 rs1285532427	153	K>E		No	ClinGen TOPMed gnomAD
rs777003078 CA371442562	154	D>A		No	ClinGen ExAC TOPMed gnomAD
CA4799281 rs777003078	154	D>V		No	ClinGen ExAC TOPMed gnomAD
CA4799280 rs764581744	154	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1173561468 CA371442593	156	F>L		No	ClinGen gnomAD
rs1427789040 CA371442617	158	K>Q		No	ClinGen gnomAD
rs1399482097 CA371442640	159	S>*		No	ClinGen gnomAD
rs1399482097 CA371442641	159	S>L		No	ClinGen gnomAD
CA371442672 rs1317712429	161	P>L		No	ClinGen gnomAD
rs762311391 CA4799282	161	P>S		No	ClinGen ExAC
CA4799283 rs765673343	163	L>V		No	ClinGen ExAC gnomAD
rs375246774 CA4799284	166	H>Y		No	ClinGen ESP ExAC gnomAD
rs1370566067 CA371442753	167	K>E		No	ClinGen gnomAD
TCGA novel	167	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1460690406 CA371442790	169	T>I		No	ClinGen TOPMed
CA371442810 rs766556244	171	D>E		No	ClinGen ExAC gnomAD
CA371442820 rs1346961711	172	G>E		No	ClinGen gnomAD
CA4799287 rs184822295	174	W>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	176	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1329424635 CA371442905	176	M>V		No	ClinGen gnomAD
rs1320146560 CA371442926	177	V>F		No	ClinGen Ensembl
rs754714327 CA371442950	178	H>L		No	ClinGen ExAC TOPMed gnomAD
rs754714327 CA4799288	178	H>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	178	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4799290 rs747910810	179	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4799289 rs781107778	179	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1469285012	181	E>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756031809 CA4799291	181	E>A		No	ClinGen ExAC gnomAD
rs1469285012 CA371442998	181	E>D		No	ClinGen TOPMed
rs866539912 CA180347320	182	V>A		No	ClinGen Ensembl
CA180347310 rs968150672	182	V>I		No	ClinGen TOPMed
CA180347352 rs531629272	183	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4799306 rs531629272	183	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1473858447 CA371443665	184	K>I		No	ClinGen gnomAD
CA4799309 rs377392699	185	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1458599831 CA371443708	186	N>I		No	ClinGen gnomAD
rs1165259416 CA371443746	189	P>L		No	ClinGen gnomAD
CA4799310 rs777831617	191	W>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	191	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753888094 CA4799311	192	R>K		No	ClinGen ExAC gnomAD
rs914186347 CA180347413	192	R>W		No	ClinGen Ensembl
rs534099618 CA4799314	193	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs534099618 CA4799315	193	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4799313 rs147410877	193	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs147410877 CA371443786	193	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs139619960 CA180347473	194	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770192088 CA4799318	195	K>E		No	ClinGen ExAC gnomAD
CA371443831 rs1285544281	195	K>N		No	ClinGen gnomAD
CA4799320 rs763516019	198	L>F		No	ClinGen ExAC gnomAD
rs766674375 CA180347533	198	L>P		No	ClinGen Ensembl
rs766674375 CA180347547	198	L>R		No	ClinGen Ensembl
CA4799322 rs774441979	201	L>P		No	ClinGen ExAC gnomAD
rs200521434 CA180347574	201	L>V		No	ClinGen Ensembl
CA180347581 rs929848651	204	G>*		No	ClinGen TOPMed gnomAD
rs929848651 CA180347577	204	G>R		No	ClinGen TOPMed gnomAD
rs764051826 CA4799327	205	D>E		No	ClinGen ExAC gnomAD
CA4799325 rs767748833	205	D>H		No	ClinGen ExAC TOPMed gnomAD
CA4799324 rs767748833	205	D>N		No	ClinGen ExAC TOPMed gnomAD
CA4799326 rs760536372	205	D>V		No	ClinGen ExAC TOPMed
CA4799328 rs753693257	206	M>V		No	ClinGen ExAC TOPMed
CA4799330 rs576188968	207	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4799329 rs757206461	207	D>N		No	ClinGen ExAC gnomAD
rs147164479 CA4799331	209	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs139489122 CA4799348	212	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1366946530 CA371438251	213	E>K		No	ClinGen gnomAD
CA4799351 rs750373878	215	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA4799353 rs765869707	216	D>G		No	ClinGen ExAC gnomAD
CA4799352 rs757910830	216	D>N		No	ClinGen ExAC gnomAD
TCGA novel	217	Y>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751073141 CA4799354	219	N>S		No	ClinGen ExAC gnomAD
CA371438304 rs1209462144	220	D>H		No	ClinGen gnomAD
CA4799355 rs754566680	221	G>E		No	ClinGen ExAC TOPMed gnomAD
CA180318325 rs145882934	221	G>R		No	ClinGen ESP gnomAD
rs1266488028 CA371438316	222	S>P		No	ClinGen gnomAD
rs1433701226 CA371438326	223	H>P		No	ClinGen gnomAD
CA371438325 rs1433701226	223	H>R		No	ClinGen gnomAD
CA4799357 rs374163721	224	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs924010698 CA180318335	226	I>T		No	ClinGen TOPMed gnomAD
rs1159299814 CA371438359	228	T>I		No	ClinGen gnomAD
rs1433924018 CA371438371	230	Q>P		No	ClinGen TOPMed gnomAD
rs370446202 CA4799360	231	T>I		No	ClinGen ESP ExAC gnomAD
rs373856396 CA180318363	232	T>I		No	ClinGen ESP gnomAD
CA371438391 rs1586844031	233	M>K		No	ClinGen Ensembl
rs1193429030 CA371438387	233	M>V		No	ClinGen TOPMed
CA371438432 rs1389008445	239	A>P		No	ClinGen gnomAD
CA371438430 rs1389008445	239	A>T		No	ClinGen gnomAD
CA4799362 rs775378679	240	S>C		No	ClinGen ExAC gnomAD
CA371438441 rs1432400211	241	R>*		No	ClinGen gnomAD
rs768956401 CA4799364	244	P>S		No	ClinGen ExAC gnomAD
TCGA novel	244	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	247	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4799376 rs757638645	247	F>Y		No	ClinGen ExAC gnomAD
rs779082648 CA4799377	250	I>M		No	ClinGen ExAC gnomAD
rs1482685011 CA371438625	251	N>D		No	ClinGen gnomAD
rs41333046 CA4799379 VAR_048848	252	E>D		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4799378 rs750815455	252	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1234091853 CA371438653	253	K>E		No	ClinGen gnomAD
CA371438688 rs1180802984	255	R>K		No	ClinGen gnomAD
rs761955273	260	S>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs867064701 CA180319008	260	S>C		No	ClinGen Ensembl
CA371438798 rs1390211369	260	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4799383 rs747051258	261	Y>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	262	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	262	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4799385 rs768903401	266	V>D		No	ClinGen ExAC gnomAD
CA4799387 rs781548513	268	S>I		No	ClinGen ExAC gnomAD
rs781548513 CA371438943	268	S>N		No	ClinGen ExAC gnomAD
rs772212238 CA180319029	268	S>R		No	ClinGen Ensembl
CA4799386 rs781548513	268	S>T		No	ClinGen ExAC gnomAD
CA4799389 rs772824390	271	Q>H		No	ClinGen ExAC gnomAD
rs770058087 CA4799388	271	Q>R		No	ClinGen ExAC gnomAD
CA4799390 rs569117484	273	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA371439101 rs1206310663	274	I>V		No	ClinGen gnomAD
CA180319507 rs892201022	275	T>I		No	ClinGen TOPMed gnomAD
CA371439125 rs1195710899	276	V>I		No	ClinGen gnomAD
rs755463784 CA4799412	277	E>K		No	ClinGen ExAC gnomAD
rs774935440 CA4799414	279	T>A		No	ClinGen ExAC gnomAD
CA371439172 rs1411400197	280	F>L		No	ClinGen TOPMed
CA371439189 rs1368413638	281	L>F		No	ClinGen TOPMed
CA4799416 rs763626729	283	Y>C		No	ClinGen ExAC gnomAD
CA371439235 rs1158525356	284	I>K		No	ClinGen gnomAD
CA4799417 rs753572350	287	G>E		No	ClinGen ExAC gnomAD
rs763210202 CA4799418	290	L>M		No	ClinGen ExAC gnomAD
CA371439318 rs1320033977	290	L>P		No	ClinGen gnomAD
CA371439347 rs1329172515	293	T>A		No	ClinGen TOPMed gnomAD
CA371439438 rs1252596595	294	V>L		No	ClinGen TOPMed gnomAD
rs1408447948 CA371439444	295	G>*		No	ClinGen TOPMed
rs764170678 CA4799444	296	V>E		No	ClinGen ExAC gnomAD
rs756144926 CA4799443	296	V>L		No	ClinGen ExAC gnomAD
CA371439449 rs756144926	296	V>M		No	ClinGen ExAC gnomAD
rs1399735174 CA371439463	298	F>C		No	ClinGen gnomAD
rs199976451 CA4799445	298	F>L		No	ClinGen ExAC gnomAD
CA371439472 rs1473258339	299	T>I		No	ClinGen gnomAD
rs960042710 CA180319783	300	G>V		No	ClinGen TOPMed gnomAD
CA371439484 rs1386935357	302	N>H		No	ClinGen gnomAD
rs201767063 CA4799447	302	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA371439495 rs1397164621	303	G>A		No	ClinGen TOPMed gnomAD
rs1307284481 CA371439492	303	G>R		No	ClinGen gnomAD
rs1397164621 CA371439496	303	G>V		No	ClinGen TOPMed gnomAD
CA371439497 rs1392555758	304	D>N		No	ClinGen gnomAD
rs745636325 CA4799448	305	P>S		No	ClinGen ExAC gnomAD
rs758242295 CA4799449	306	R>M		No	ClinGen ExAC gnomAD
rs758242295 CA180319798	306	R>T		No	ClinGen ExAC gnomAD
CA371439515 rs1586846687	307	S>A		No	ClinGen Ensembl
CA4799450 rs779839961	307	S>F		No	ClinGen ExAC TOPMed gnomAD
CA4799451 rs747030132	309	D>N		No	ClinGen ExAC gnomAD
rs373704364 CA180319809	314	I>V		No	ClinGen ESP TOPMed gnomAD
CA4799452 rs555277149	316	P>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1472164277 CA371439575	316	P>S		No	ClinGen TOPMed
CA4799453 rs146607930	317	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs576897073 CA180319817	318	G>D		No	ClinGen TOPMed gnomAD
rs143958572 CA4799455	319	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773039697 CA4799457	321	E>*		No	ClinGen ExAC gnomAD
CA4799459 rs759966086	321	E>D		No	ClinGen ExAC gnomAD
CA180319829 rs376667596	322	Y>C		No	ClinGen ESP TOPMed
CA4799460 rs775724047	325	A>S		No	ClinGen ExAC gnomAD
CA371439635 rs1330415035	325	A>V		No	ClinGen TOPMed
CA4799462 rs370964869	326	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA4799463 rs370964869	326	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs542595641 CA4799464	329	V>L		No	ClinGen ExAC TOPMed gnomAD
rs959175711 CA180319837	330	G>*		No	ClinGen Ensembl
CA4799468 rs200604331	333	I>N		No	ClinGen 1000Genomes ExAC gnomAD
CA4799467 rs553955691	333	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs546301872 CA4799470	334	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
CA4799469 rs546301872	334	Q>K		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	334	Q>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371439713 rs781021543	338	A>D		No	ClinGen ExAC TOPMed gnomAD
rs141328473 CA4799471	338	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA4799472 rs781021543	338	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1586848756 CA371440011	339	D>G		No	ClinGen Ensembl
CA371440007 rs1266507342	339	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA180320677 rs1012590354	340	K>N		No	ClinGen Ensembl
CA371440025 rs1480732085	340	K>R		No	ClinGen gnomAD
rs145076903 CA180320681	341	M>I		No	ClinGen ESP gnomAD
CA4799489 rs367933166	341	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs781167571 CA4799491	344	A>D		No	ClinGen ExAC gnomAD
CA4799490 rs754769434	344	A>T		No	ClinGen ExAC TOPMed gnomAD
CA371440080 rs1446525803	345	F>L		No	ClinGen gnomAD
rs1563699297 CA371440114	347	F>S		No	ClinGen Ensembl
CA371440139 rs1489735619	348	G>D		No	ClinGen TOPMed
rs146814395 CA4799492	348	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs777361924 CA4799494	349	A>T		No	ClinGen ExAC TOPMed gnomAD
CA180320707 rs778473378	350	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs778473378 CA4799497	350	Q>E		No	ClinGen ExAC gnomAD
CA371440186 rs1286495019	350	Q>H		No	ClinGen TOPMed gnomAD
CA371440183 rs1446817602	350	Q>R		No	ClinGen gnomAD
rs1563699344 CA371440197	351	I>M		No	ClinGen Ensembl
rs747381462 CA4799498	351	I>V		No	ClinGen ExAC gnomAD
CA180320716 rs1027379291	354	Q>*		No	ClinGen Ensembl
rs777114948 CA4799501	355	W>C		No	ClinGen ExAC TOPMed gnomAD
CA180320720 rs1008108173	355	W>R		No	ClinGen TOPMed
rs762236512 CA4799502	356	Q>*		No	ClinGen ExAC gnomAD
rs762236512 CA371440273	356	Q>K		No	ClinGen ExAC gnomAD
CA4799503 rs770296107	356	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA371440361 rs1234178954	357	V>L		No	ClinGen gnomAD
CA371440383 rs1482052670	358	S>P		No	ClinGen gnomAD
CA4799517 rs375351141	359	H>Q		No	ClinGen ESP ExAC gnomAD
rs758070071 CA4799518	361	F>S		No	ClinGen ExAC gnomAD
CA4799519 rs781474044	363	M>V		No	ClinGen ExAC TOPMed gnomAD
rs748532176 CA4799520	364	N>Y		No	ClinGen ExAC gnomAD
rs1411076094 CA371440557	366	N>D		No	ClinGen TOPMed gnomAD
rs1337572820 CA371440580	366	N>K		No	ClinGen TOPMed
CA371440576 rs1172623086	366	N>S		No	ClinGen gnomAD
rs150407168 CA4799522	367	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1357544238 CA371440584	367	P>T		No	ClinGen TOPMed gnomAD
rs749365040 CA4799523	369	N>D		No	ClinGen ExAC gnomAD
CA4799524 rs770973474	369	N>S		No	ClinGen ExAC gnomAD
CA4799525 rs774494442	370	P>L		No	ClinGen ExAC gnomAD
TCGA novel	370	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4799526 rs368244904	372	C>*		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	372	C>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4799554 rs765245261	374	G>A		No	ClinGen ExAC gnomAD
rs1437282909 CA371441509	376	Q>*		No	ClinGen gnomAD
CA4799555 rs749863412	377	G>D		No	ClinGen ExAC gnomAD
CA180322042 rs762427586	379	V>L		No	ClinGen Ensembl
CA371441561 rs967599482 CA180322046	380	E>D		No	ClinGen TOPMed
CA4799556 rs181759510	381	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs35620413 CA4799557	381	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4799560 rs78562770	383	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4799559 rs756466722	383	R>W		No	ClinGen ExAC TOPMed gnomAD
CA4799562 rs757664686	384	S>C		No	ClinGen ExAC gnomAD
rs143626633 CA4799561	384	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs779512312 CA371441584	385	C>S		No	ClinGen ExAC TOPMed gnomAD
rs779512312 CA4799563	385	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA4799565 rs772333561	386	L>H		No	ClinGen ExAC gnomAD
CA4799564 rs745910988	386	L>V		No	ClinGen ExAC gnomAD
rs1225775308 CA371441593	387	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1586851926 CA371441600	388	Q>*		No	ClinGen Ensembl
rs1288247909 CA371441601	388	Q>P		No	ClinGen gnomAD
TCGA novel	388	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA371441620 rs1563701777	390	K>N		No	ClinGen Ensembl
rs1490320241 CA371441623	391	L>F		No	ClinGen gnomAD
CA371441631 rs747157675	392	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs747157675 CA4799567	392	Y>F		No	ClinGen ExAC gnomAD
rs17853577 CA180322086	394	P>Q		No	ClinGen Ensembl
rs776243927 CA4799569	394	P>S		No	ClinGen ExAC TOPMed gnomAD
CA371441645 rs1434631640	395	T>A		No	ClinGen TOPMed
CA180322089 rs929284646	396	N>H		No	ClinGen TOPMed
CA180322090 rs764205551	396	N>K		No	ClinGen TOPMed
CA371441653 rs1395422453	396	N>S		No	ClinGen TOPMed
TCGA novel	396	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1563701812 CA371441665	398	S>P		No	ClinGen Ensembl
CA4799570 rs138693018	400	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769590076 CA4799571	402	N>D		No	ClinGen ExAC gnomAD
TCGA novel	402	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA180322093 CA4799574 rs148215511	404	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148215511 CA4799573	404	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1423906928 CA371441713	406	R>G		No	ClinGen gnomAD
CA4799575 rs141184344	406	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	406	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759139211 CA4799576	408	A>T		No	ClinGen ExAC gnomAD
rs142628253 CA4799577	409	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1281196299 CA371441736	409	A>V		No	ClinGen Ensembl
CA4799578 rs754119542	410	A>T		No	ClinGen ExAC gnomAD
rs373020571 CA4799579	410	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA371441746 rs1282763916	411	A>V		No	ClinGen gnomAD
CA371441751 rs2304789	412	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs2304789 VAR_024424 CA4799580	412	T>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA371441754 rs1563701904	413	Q>*		No	ClinGen Ensembl
rs1563701904 CA371441753	413	Q>E		No	ClinGen Ensembl
rs758974963 CA4799582	413	Q>R		No	ClinGen ExAC gnomAD
CA4799584 rs781427442	414	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4799585 rs747112587	414	Q>H		No	ClinGen ExAC TOPMed
rs1251415684 CA371441769	415	Q>R		No	ClinGen gnomAD
rs138985360 CA4799586	416	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs371601967 CA4799587	416	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1383322280 CA371442132	419	Q>K		No	ClinGen gnomAD
CA4799615 rs774864921	422	V>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	423	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1289126855 CA371442313	429	G>C		No	ClinGen TOPMed
rs375476367 CA4799618	431	I>M		No	ClinGen ESP ExAC TOPMed
CA371442361 rs1221705953	432	T>A		No	ClinGen gnomAD
CA371442377 rs1349098106	433	D>A		No	ClinGen TOPMed
CA4799619 rs763454928	434	L>F		No	ClinGen ExAC gnomAD
rs1324534887 CA371442404	435	D>G		No	ClinGen gnomAD
rs1324534887 CA371442400	435	D>V		No	ClinGen gnomAD
CA371442428 rs1205858828	437	T>A		No	ClinGen TOPMed gnomAD
rs367649201 CA4799620	437	T>I		No	ClinGen ExAC gnomAD
CA371442464 rs1361314229	440	A>D		No	ClinGen TOPMed
rs752172198 CA4799621	440	A>S		No	ClinGen ExAC gnomAD
rs768025237 CA180322601	441	I>L		No	ClinGen ExAC TOPMed gnomAD
CA371442482 rs1262267812	441	I>M		No	ClinGen gnomAD
rs768025237 CA4799622	441	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA371442541 rs1430297046	445	S>C		No	ClinGen gnomAD
CA371442540 rs1430297046	445	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4799623 rs554079503	446	R>G		No	ClinGen 1000Genomes ExAC gnomAD
CA371442561 rs1428034178	446	R>K		No	ClinGen gnomAD
TCGA novel	448	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA180322613 rs940294755	449	M>T		No	ClinGen gnomAD
CA371442619 rs1563702625	449	M>V		No	ClinGen Ensembl
CA4799627 rs753607336	450	S>C		No	ClinGen ExAC gnomAD
rs1387766860 CA371442696	451	I>V		No	ClinGen gnomAD
CA371442715 rs1302597338	452	I>K		No	ClinGen gnomAD
CA4799628 rs757099693	452	I>V		No	ClinGen ExAC gnomAD
CA180322621 rs1036626497	453	I>M		No	ClinGen gnomAD
TCGA novel	455	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4799629 rs778814351	456	V>A		No	ClinGen ExAC TOPMed gnomAD
CA4799630 rs577332024	459	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA4799632 rs779563300	463	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs768327721 CA4799634	464	M>I		No	ClinGen ExAC TOPMed gnomAD
rs746535912 CA4799633	464	M>L		No	ClinGen ExAC gnomAD
CA4799636 rs763399183	465	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs776474423 CA4799635	465	E>G		No	ClinGen ExAC TOPMed gnomAD
CA4799639 rs760030978	468	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1418209890 CA371443021	469	G>S		No	ClinGen TOPMed gnomAD
CA180322653 rs140004037	470	D>G		No	ClinGen 1000Genomes
CA180322657 rs766579279	471	G>S		No	ClinGen Ensembl
rs141960352 CA4799641	473	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs764286314 CA4799643	474	L>H		No	ClinGen ExAC TOPMed
CA4799642 rs760716869	474	L>V		No	ClinGen ExAC gnomAD
rs754124587 CA4799644	475	R>C		No	ClinGen ExAC gnomAD
CA4799645 rs17853579	475	R>H		No	ClinGen ExAC TOPMed gnomAD
CA371443107 rs778618079	476	S>F		No	ClinGen ExAC gnomAD
CA4799646 rs778618079	476	S>Y		No	ClinGen ExAC gnomAD
CA4799647 rs140153543	477	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs758311458 CA4799648	478	L>M		No	ClinGen ExAC TOPMed gnomAD
rs1307411225 CA371443140	480	E>*		No	ClinGen gnomAD
rs746510247 CA4799650	480	E>D		No	ClinGen ExAC gnomAD
rs1307411225 CA371443137	480	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA371443157 rs1243542213	482	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4799651 rs768341746	483	I>V		No	ClinGen ExAC TOPMed gnomAD
CA4799652 rs780990449	485	D>E		No	ClinGen ExAC gnomAD
rs1360089587 CA371443194	485	D>G		No	ClinGen gnomAD
TCGA novel	485	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747737661 CA4799653	486	I>V		No	ClinGen ExAC gnomAD
rs1019444553 CA180322687	488	Q>R		No	ClinGen gnomAD
CA371443238 CA4799654 rs769586297	489	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
rs1252265974 CA371443243	490	V>L		No	ClinGen gnomAD
rs371680147 CA4799655	491	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs759849984 CA4799656	495	F>L		No	ClinGen ExAC gnomAD
CA371443307 rs1386387971	496	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4799667 rs766330190	498	A>D		No	ClinGen ExAC TOPMed gnomAD
CA4799668 rs751521587	499	P>A		No	ClinGen ExAC TOPMed gnomAD
CA4799669 rs751521587	499	P>S		No	ClinGen ExAC TOPMed gnomAD
rs780793997 CA4799671	500	K>E		No	ClinGen ExAC
CA371443435 rs1185237632	501	E>*		No	ClinGen gnomAD
rs930566334 CA180323279	501	E>A		No	ClinGen gnomAD
CA371443472 rs755789015	504	A>G		No	ClinGen ExAC gnomAD
CA4799673 rs755789015	504	A>V		No	ClinGen ExAC gnomAD
CA371443479 rs1404168317	505	Q>R		No	ClinGen gnomAD
rs146837364 CA180323288	506	C>R		No	ClinGen ESP
rs777338573 CA4799674	508	L>V		No	ClinGen ExAC gnomAD
rs1335808771 CA371443518	508	L>W		No	ClinGen gnomAD
rs200815683 CA4799675	509	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA4799676 rs772382925	510	E>D		No	ClinGen ExAC gnomAD
CA180323299 rs529551993	512	P>A		No	ClinGen 1000Genomes gnomAD
rs529551993 CA180323295	512	P>S		No	ClinGen 1000Genomes gnomAD
CA371443566 rs1214628482	513	Q>*		No	ClinGen gnomAD
CA4799679 rs375458847	513	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs375458847 CA4799678	513	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs202033475 CA180323309	515	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs202033475 CA4799680	515	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA371443593 rs1344935256	516	V>M		No	ClinGen TOPMed
CA4799683 rs773368080	517	G>D		No	ClinGen ExAC TOPMed gnomAD
CA4799685 rs766024753	518	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs138295134 CA4799684	518	Y>H		No	ClinGen 1000Genomes ExAC
rs754916968 CA4799687	521	T>I		No	ClinGen ExAC gnomAD
rs1238743418 CA371443732	523	K>*		No	ClinGen gnomAD
CA371443758 rs1585930814	523	K>N		No	ClinGen Ensembl
rs1585930840 CA371443783	524	L>P		No	ClinGen Ensembl
CA4799688 rs767594930	524	L>V		No	ClinGen ExAC gnomAD
rs1177361051 CA371443792	525	L>F		No	ClinGen gnomAD
rs752225097 CA4799689	525	L>P		No	ClinGen ExAC gnomAD
rs755742131 CA4799691	529	N>T		No	ClinGen ExAC gnomAD
CA4799692 rs777477341	531	A>D		No	ClinGen ExAC gnomAD
rs1343040424 CA371443895	532	T>A		No	ClinGen gnomAD
CA180323336 rs761276717	532	T>K		No	ClinGen ExAC TOPMed gnomAD
rs761276717 CA4799693	532	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA180323338 rs761276717	532	T>R		No	ClinGen ExAC TOPMed gnomAD
rs778098299 CA180323347	533	K>Q		No	ClinGen Ensembl
rs148960796 CA4799695	534	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1222410847 CA371443922	535	Q>K		No	ClinGen gnomAD
rs747401434 CA4799696	536	K>R		No	ClinGen ExAC gnomAD
rs769116507 CA4799698	537	Q>H		No	ClinGen ExAC gnomAD
CA180323352 rs939425859	537	Q>R		No	ClinGen TOPMed gnomAD

No associated diseases with O75131

5 regional properties for O75131

Type	Name	Position	InterPro Accession
domain	C2 domain	1 - 115	IPR000008-1
domain	C2 domain	124 - 247	IPR000008-2
domain	von Willebrand factor, type A	289 - 491	IPR002035
domain	Copine, C-terminal	263 - 524	IPR010734
domain	Copine, C2B domain	139 - 251	IPR037768

Functions

		Description
EC Number
Subcellular Localization	Nucleus Cytoplasm Cell membrane Cell junction Cell junction, focal adhesion	Associates to the membrane in a calcium-dependent manner (PubMed:20010870) Translocates to the cell membrane and the nucleus in a calcium- or growth factor heregulin-dependent manner (PubMed:20010870, PubMed:21087455) Colocalizes with the tyrosine phosphorylated ERBB2 form at cell membrane and focal adhesions in a calcium- or growth factor heregulin-dependent manner (PubMed:20010870)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

11 GO annotations of cellular component

Name	Definition
azurophil granule membrane	The lipid bilayer surrounding an azurophil granule, a primary lysosomal granule found in neutrophil granulocytes that contains a wide range of hydrolytic enzymes and is released into the extracellular fluid.
cell junction	A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella.
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.
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.
focal adhesion	A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

6 GO annotations of molecular function

Name	Definition
calcium-dependent phospholipid binding	Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester, in the presence of calcium.
calcium-dependent protein binding	Binding to a protein or protein complex in the presence of calcium.
metal ion binding	Binding to a metal ion.
protein serine/threonine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.
receptor tyrosine kinase binding	Binding to a receptor that possesses protein tyrosine kinase activity.
RNA binding	Binding to an RNA molecule or a portion thereof.

4 GO annotations of biological process

Name	Definition
cellular response to calcium ion	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a calcium ion stimulus.
cellular response to growth factor stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a growth factor stimulus.
ERBB2 signaling pathway	The series of molecular signals initiated by binding of a ligand to the tyrosine kinase receptor ERBB2 on the surface of a cell. The pathway ends with regulation of a downstream cellular process, e.g. transcription. ERBB2 receptors are themselves unable to bind to ligands, but act as a signal-amplifying tyrosine kinase within a heterodimeric pair.
positive regulation of cell migration	Any process that activates or increases the frequency, rate or extent of cell migration.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q08DB4	CPNE1	Copine-1	Bos taurus (Bovine)	PR
Q99829	CPNE1	Copine-1	Homo sapiens (Human)	PR
Q8C166	Cpne1	Copine-1	Mus musculus (Mouse)	PR
Q8BT60	Cpne3	Copine-3	Mus musculus (Mouse)	PR
D4A1R8	Cpne1	Copine-1	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MAAQCVTKVA	LNVSCANLLD	KDIGSKSDPL	CVLFLNTSGQ	QWYEVERTER	IKNCLNPQFS
70	80	90	100	110	120
KTFIIDYYFE	VVQKLKFGVY	DIDNKTIELS	DDDFLGECEC	TLGQIVSSKK	LTRPLVMKTG
130	140	150	160	170	180
RPAGKGSITI	SAEEIKDNRV	VLFEMEARKL	DNKDLFGKSD	PYLEFHKQTS	DGNWLMVHRT
190	200	210	220	230	240
EVVKNNLNPV	WRPFKISLNS	LCYGDMDKTI	KVECYDYDND	GSHDLIGTFQ	TTMTKLKEAS
250	260	270	280	290	300
RSSPVEFECI	NEKKRQKKKS	YKNSGVISVK	QCEITVECTF	LDYIMGGCQL	NFTVGVDFTG
310	320	330	340	350	360
SNGDPRSPDS	LHYISPNGVN	EYLTALWSVG	LVIQDYDADK	MFPAFGFGAQ	IPPQWQVSHE
370	380	390	400	410	420
FPMNFNPSNP	YCNGIQGIVE	AYRSCLPQIK	LYGPTNFSPI	INHVARFAAA	ATQQQTASQY
430	440	450	460	470	480
FVLLIITDGV	ITDLDETRQA	IVNASRLPMS	IIIVGVGGAD	FSAMEFLDGD	GGSLRSPLGE
490	500	510	520	530
VAIRDIVQFV	PFRQFQNAPK	EALAQCVLAE	IPQQVVGYFN	TYKLLPPKNP	ATKQQKQ