AiPD: Autoinhibited Protein Database

Q9BT88

Gene name	SYT11
Protein name	Synaptotagmin-11
Names	Synaptotagmin XI, SytXI
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23208
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

88-168 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

88-168 (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 Q9BT88

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9BT88-F1	Predicted				AlphaFoldDB

280 variants for Q9BT88

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA342782911 rs1557944467	3	E>A		No	ClinGen Ensembl
CA342782957 rs1393747800	6	N>K		No	ClinGen TOPMed
rs1464573513 CA342782987	9	P>S		No	ClinGen gnomAD
rs776079357 CA1151488	10	S>N		No	ClinGen ExAC gnomAD
rs377646230 CA30959441	11	F>S		No	ClinGen ESP TOPMed
CA1151489 rs779979197	12	D>H		No	ClinGen ExAC gnomAD
CA342787296 rs1220263319	13	V>M		No	ClinGen TOPMed
rs1400731028 CA342787342	14	S>L		No	ClinGen gnomAD
CA342787329 rs1307823220	14	S>P		No	ClinGen TOPMed
CA30962476 rs746738594	15	P>L		No	ClinGen TOPMed gnomAD
rs773398731 CA30962511	16	V>L		No	ClinGen ExAC TOPMed gnomAD
rs773398731 CA1151513	16	V>M		No	ClinGen ExAC TOPMed gnomAD
COSM897052 CA342787398 rs1392974436	17	V>M	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA342787433 rs1408308042	18	A>D		No	ClinGen gnomAD
CA1151515 rs544233173	19	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1372800090 CA342787489	20	L>R		No	ClinGen TOPMed
CA30962551 rs921922610	22	G>E		No	ClinGen Ensembl
CA342787511 rs1232655741	22	G>R		No	ClinGen gnomAD
rs773865820 CA1151516	23	A>T		No	ClinGen ExAC gnomAD
CA30962558 rs899770097	25	V>A		No	ClinGen TOPMed
CA342787582 rs1428063497	25	V>M		No	ClinGen gnomAD
CA1151517 rs145225266	28	V>M		No	ClinGen ESP ExAC gnomAD
rs1571974131 CA342787710	29	C>W		No	ClinGen Ensembl
CA30962577 rs377425025	30	V>A		No	ClinGen ESP TOPMed
CA342787763 rs1481930873	31	S>L		No	ClinGen gnomAD
rs765320971 CA1151524	34	V>A		No	ClinGen ExAC gnomAD
CA1151523 rs201050124	34	V>F		No	ClinGen ExAC TOPMed gnomAD
CA1151522 rs201050124	34	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA342787885 rs1378804996	35	F>C		No	ClinGen gnomAD
rs1480845804 CA342787924	36	V>A		No	ClinGen TOPMed
CA1151525 rs750379081	36	V>I		No	ClinGen ExAC gnomAD
CA342787977 rs1370377692	38	S>P		No	ClinGen gnomAD
CA342788004 rs1428198671	39	C>Y		No	ClinGen gnomAD
rs748423542 CA1151528	41	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA1151527 rs142388437	41	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs140734493 CA1151529	43	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778204068 CA1151530	46	K>N		No	ClinGen ExAC gnomAD
CA1151531 rs749558009	47	K>T		No	ClinGen ExAC gnomAD
rs371443128 CA30962652	48	Q>*		No	ClinGen gnomAD
rs822522 VAR_047656 CA1151533	48	Q>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs771315149 CA1151532	48	Q>R		No	ClinGen ExAC gnomAD
CA1151534 rs746345273	49	K>R		No	ClinGen ExAC TOPMed gnomAD
CA342788191 rs1487961489	51	P>L		No	ClinGen gnomAD
TCGA novel	55	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	57	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1151537 COSM1319905 rs371162872	68	T>N	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
rs145916199 CA1151541	70	S>C		No	ClinGen ESP ExAC gnomAD
rs145916199 CA1151540	70	S>G		No	ClinGen ESP ExAC gnomAD
CA1151542 rs142925260	71	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA1151543 rs762934326	73	K>M		No	ClinGen ExAC gnomAD
CA342788347 rs1457648002	73	K>N		No	ClinGen TOPMed gnomAD
rs767736326 CA1151544	75	I>V		No	ClinGen ExAC
CA342788370 rs1393028145	77	K>E		No	ClinGen gnomAD
rs148519088 CA1151547	79	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs374184182 CA1151546	79	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA30962757 rs866161512	81	D>N		No	ClinGen Ensembl
CA30962763 rs761894157	83	D>N		No	ClinGen TOPMed
rs1298137936 CA342788441	88	E>K		No	ClinGen gnomAD
CA342788446 rs1173205950	88	E>V		No	ClinGen TOPMed
CA342788458 rs1452667689	90	G>E		No	ClinGen TOPMed
rs149832151 CA1151550	91	R>C		No	ClinGen 1000Genomes ExAC gnomAD
CA1151551 rs528248189	91	R>H	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs528248189 CA1151552	91	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1571974300 CA342788474	93	N>T		No	ClinGen Ensembl
CA1151555 rs370384382	94	L>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1247789226 CA342788493	96	V>E		No	ClinGen gnomAD
CA342788490 rs1245597007	96	V>M		No	ClinGen TOPMed gnomAD
rs1447949693 CA342788496	97	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1414755396 CA342788506	98	A>E		No	ClinGen TOPMed gnomAD
CA1151557 rs761502444	98	A>T		No	ClinGen ExAC gnomAD
CA1151558 rs139689384	102	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762988767 CA1151560	105	S>I		No	ClinGen ExAC gnomAD
CA1151561 rs766360750	105	S>R		No	ClinGen ExAC TOPMed gnomAD
CA1151563 rs374290876	106	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs764205420 CA1151564	106	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1386527357 CA342788554	107	D>Y		No	ClinGen gnomAD
CA1151567 rs757424393	109	D>E		No	ClinGen ExAC gnomAD
rs754058437 CA1151565	109	D>G		No	ClinGen ExAC gnomAD
rs1437274504 CA342788570	109	D>H		No	ClinGen gnomAD
rs1437274504 CA342788569	109	D>N		No	ClinGen gnomAD
CA342788571 rs1437274504	109	D>Y		No	ClinGen gnomAD
CA1151568 rs750724715	110	P>L		No	ClinGen ExAC gnomAD
rs368735654 CA30962822	111	R>T		No	ClinGen ESP TOPMed
rs1557947267 CA342788590	112	G>A		No	ClinGen Ensembl
CA342788586 rs1321955420	112	G>R		No	ClinGen gnomAD
CA1151569 rs758744732	115	S>F		No	ClinGen ExAC gnomAD
CA1151570 rs780488415	118	C>R		No	ClinGen ExAC gnomAD
CA30962834 rs971448004	119	I>V		No	ClinGen TOPMed gnomAD
CA342788636 rs1239129763	120	D>N		No	ClinGen TOPMed
CA342788663 rs1330603125	123	P>H		No	ClinGen gnomAD
rs747516071 CA1151571	124	I>N		No	ClinGen ExAC gnomAD
rs982854274 CA30962839	125	K>T		No	ClinGen TOPMed
CA342788689 rs1243219121	127	D>Y		No	ClinGen gnomAD
CA30962847 rs908640761	128	Y>C		No	ClinGen TOPMed
TCGA novel	130	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768097557 CA1151572	131	E>K		No	ClinGen ExAC gnomAD
CA1151573 rs780703175	133	R>K		No	ClinGen ExAC gnomAD
CA1151574 rs747833603	134	S>N		No	ClinGen ExAC gnomAD
CA342788810 rs1409900875	137	T>I		No	ClinGen gnomAD
CA1151575 rs769504181	138	S>I		No	ClinGen ExAC TOPMed gnomAD
CA1151576 rs773154335	138	S>R		No	ClinGen ExAC gnomAD
rs1358537251 CA342788845	140	T>A		No	ClinGen gnomAD
rs144549493 CA1151578	141	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1151577 rs749153791	141	P>S		No	ClinGen ExAC gnomAD
CA30962881 rs936000613	143	E>A		No	ClinGen TOPMed gnomAD
TCGA novel	143	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774197657 CA1151579	144	S>R		No	ClinGen ExAC TOPMed gnomAD
rs759497839 CA1151580	145	K>E		No	ClinGen ExAC gnomAD
CA30962906 rs932552659	146	T>P		No	ClinGen TOPMed
CA342789014 rs1179516756	147	T>P		No	ClinGen TOPMed
rs764105726 CA1151581	147	T>S		No	ClinGen ExAC gnomAD
rs776735917 CA1151582	149	P>L		No	ClinGen ExAC gnomAD
rs1208619229 CA342789097	150	S>A		No	ClinGen gnomAD
CA342789139 rs1258204968	152	P>S		No	ClinGen gnomAD
CA1151584 rs765496154	153	E>A		No	ClinGen ExAC gnomAD
CA342789277 rs1557947398	156	V>I		No	ClinGen Ensembl
rs532428241 CA1151585	158	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA30962962 rs890768796	162	T>N		No	ClinGen TOPMed
rs755553898 COSM129569 CA1151586	164	S>L	upper_aerodigestive_tract urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA342789633 rs1484523338	168	N>H		No	ClinGen TOPMed
rs550640338 CA1151587	170	P>L		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	173	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1424477442 CA342789799	173	A>S		No	ClinGen TOPMed gnomAD
CA1151590 rs772498782	176	V>M		No	ClinGen ExAC gnomAD
rs747603431 CA1151591	178	I>V		No	ClinGen ExAC TOPMed gnomAD
CA342789904 rs1428846470	179	Q>E		No	ClinGen gnomAD
rs372339571 CA1151592	180	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA1151594 rs748919583	183	G>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	187	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs145851767 CA1151596	188	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1306241722 CA342790109	188	D>N		No	ClinGen gnomAD
rs761301950 CA1151597	192	Q>H		No	ClinGen ExAC gnomAD
TCGA novel	201	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1151600 rs761943579	203	L>R		No	ClinGen ExAC gnomAD
rs865986360 CA30963027	205	D>E		No	ClinGen TOPMed gnomAD
rs1410247008 CA342790418	206	K>R		No	ClinGen gnomAD
rs773469168 CA1151602	207	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA342790423 rs1322433084	207	R>W		No	ClinGen gnomAD
rs763110988 CA1151603	208	H>L		No	ClinGen ExAC gnomAD
rs1418478405 CA342790445	209	R>Q		No	ClinGen TOPMed
CA342790458 rs1325947548	210	V>A		No	ClinGen gnomAD
CA30963030 rs112686501	215	L>P		No	ClinGen Ensembl
CA30963035 rs556015196	216	R>Q		No	ClinGen gnomAD
rs1557947475 CA342790527	216	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs766683490 CA1151604	217	K>N		No	ClinGen ExAC gnomAD
CA342790546 rs1228239731	217	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1341909604 CA342790566	219	L>V		No	ClinGen gnomAD
CA342790641 rs751883423	224	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1463849694 CA342790646	225	E>K		No	ClinGen gnomAD
VAR_047657 CA30963046 rs17853892	231	G>V		No	ClinGen UniProt Ensembl dbSNP
CA342790743 rs1320095901	232	I>V		No	ClinGen TOPMed gnomAD
CA1151606 rs755453226	234	Y>C		No	ClinGen ExAC gnomAD
rs1186588507 CA342790812	237	L>V		No	ClinGen gnomAD
CA30963066 rs1005541281	238	Q>H		No	ClinGen Ensembl
rs753253141 CA1151608	239	D>E		No	ClinGen ExAC gnomAD
CA1151610 rs777400944	243	H>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	246	V>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA342790939 rs1557947518	247	L>V		No	ClinGen Ensembl
rs1165028817 CA342790961	248	S>R		No	ClinGen gnomAD
CA342790979 rs1387261737	250	D>N		No	ClinGen gnomAD
CA342790989 rs1435097534	251	R>C		No	ClinGen gnomAD
CA30963077 rs982800293 COSM424092	251	R>H	breast [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA1151611 rs748972934	254	R>P		No	ClinGen ExAC TOPMed gnomAD
CA1151612 rs748972934	254	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1328613589 CA342791007 COSM897055	254	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA1151614 rs745623175	258	I>T		No	ClinGen ExAC gnomAD
rs1557947543 CA342791046	260	E>G		No	ClinGen Ensembl
CA1151617 rs746939757	260	E>K		No	ClinGen ExAC gnomAD
rs1206795833 CA342791076	262	M>I		No	ClinGen gnomAD
rs1328535349 CA342791064	262	M>L		No	ClinGen TOPMed gnomAD
rs1328535349 CA342791066	262	M>V		No	ClinGen TOPMed gnomAD
rs1325689135 CA342791085	263	V>E		No	ClinGen TOPMed
CA1151618 rs769879129	263	V>M		No	ClinGen ExAC gnomAD
CA1151622 rs774414460	266	A>V		No	ClinGen ExAC gnomAD
CA342791135 rs1395155064	267	G>A		No	ClinGen TOPMed
rs200496974 CA1151625	268	V>A		No	ClinGen ExAC gnomAD
rs200496974 CA1151624	268	V>G		No	ClinGen ExAC gnomAD
CA30963151 rs932524497	268	V>L		No	ClinGen TOPMed gnomAD
CA342791160 rs763699683 CA1151627	269	D>E		No	ClinGen ExAC gnomAD
CA1151626 rs761204826	269	D>G		No	ClinGen ExAC gnomAD
rs756878441 CA1151630	271	S>G		No	ClinGen ExAC
rs996287931 CA30963165	271	S>I		No	ClinGen Ensembl
rs756878441 CA1151629	271	S>R		No	ClinGen ExAC
rs750043360 CA1151631	273	G>D		No	ClinGen ExAC gnomAD
rs912492040 CA30963170	274	K>T		No	ClinGen TOPMed
CA342791232 rs1571974788	275	V>G		No	ClinGen Ensembl
rs1474918144 CA342791237	276	Q>K		No	ClinGen TOPMed
rs1370958451 CA342791255	277	L>V		No	ClinGen TOPMed
CA342791313 rs1455461887	281	I>T		No	ClinGen TOPMed gnomAD
rs779769270 CA1151633	283	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs746955768 CA1151634	283	K>R		No	ClinGen ExAC gnomAD
CA1151635 rs768542179	287	Q>H		No	ClinGen ExAC gnomAD
CA30969720 rs955980732	290	I>F		No	ClinGen TOPMed gnomAD
rs951692048 CA30969721	292	R>T		No	ClinGen Ensembl
TCGA novel	293	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA30969744 rs1008879112	294	E>A		No	ClinGen Ensembl
CA342795545 rs781147465	295	L>F		No	ClinGen ExAC TOPMed gnomAD
CA1151653 rs781147465	295	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1197174378 CA342795556	296	Q>H		No	ClinGen gnomAD
CA30969763 rs770179565	300	S>T		No	ClinGen Ensembl
CA342795598 rs1450512882	302	Q>*		No	ClinGen gnomAD
rs1196068668 CA342795616	303	P>A		No	ClinGen gnomAD
rs1196068668 CA342795618	303	P>S		No	ClinGen gnomAD
TCGA novel	307	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA342795694 rs1571981291	308	M>T		No	ClinGen Ensembl
CA1151656 rs778798535	310	V>L		No	ClinGen ExAC gnomAD
CA1151657 rs746104700	311	V>L		No	ClinGen ExAC gnomAD
rs746104700 CA1151658	311	V>M		No	ClinGen ExAC gnomAD
CA342795761 rs1389930101	312	V>I		No	ClinGen gnomAD
rs925408078 CA30969784	315	A>S		No	ClinGen gnomAD
CA342795827 rs925408078	315	A>T		No	ClinGen gnomAD
CA1151659 rs776016732	317	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA1151660 rs747423514	319	P>L		No	ClinGen ExAC gnomAD
rs762173276 CA1151663	320	K>N		No	ClinGen ExAC gnomAD
CA1151664 rs764811206	323	I>V		No	ClinGen ExAC gnomAD
rs1489688520 CA342796032	324	T>I		No	ClinGen TOPMed
rs762617645 CA1151666	325	G>S		No	ClinGen ExAC TOPMed
CA342796243 rs770153506	331	Y>D		No	ClinGen ExAC gnomAD
rs770153506 CA1151681	331	Y>H		No	ClinGen ExAC gnomAD
CA342796344 rs1224414336	335	N>S		No	ClinGen TOPMed
CA1151683 rs369297239	336	V>I		No	ClinGen ExAC TOPMed gnomAD
rs774048862 CA1151685	339	G>S		No	ClinGen ExAC TOPMed gnomAD
CA342796443 rs1423506494	340	R>G		No	ClinGen gnomAD
COSM897058 rs759130814 CA1151686	342	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA30970210 rs929343111	342	R>H		No	ClinGen TOPMed gnomAD
CA342796489 rs929343111	342	R>L		No	ClinGen TOPMed gnomAD
CA30970215 COSM108234 rs138327201	343	I>V	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA342796627 rs1158437866	349	H>Q		No	ClinGen TOPMed gnomAD
rs1305379040 CA342796664	351	K>R		No	ClinGen TOPMed
CA342796700 rs1557951348	353	C>R		No	ClinGen Ensembl
CA342796702 rs1455240003	353	C>Y		No	ClinGen gnomAD
rs1405926654 CA342796765	357	P>H		No	ClinGen TOPMed
CA1151690 rs756097475	358	I>T		No	ClinGen ExAC gnomAD
CA1151689 rs151122665	358	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1294729485 CA342796793	359	F>V		No	ClinGen gnomAD
CA342796824 rs1355633081	360	N>S		No	ClinGen gnomAD
CA30970246 rs900119413	361	E>V		No	ClinGen Ensembl
CA1151692 rs768745300	366	D>N		No	ClinGen ExAC gnomAD
CA1151694 rs780229063	368	P>S		No	ClinGen ExAC gnomAD
rs1483123483 CA342796954	369	T>A		No	ClinGen gnomAD
rs538608004 CA1151696	370	D>E		No	ClinGen ExAC TOPMed gnomAD
CA342796968 rs1209106970	370	D>H		No	ClinGen gnomAD
CA342796976 rs1557951398	371	L>R		No	ClinGen Ensembl
CA1151697 rs141959462	373	P>L		No	ClinGen ESP ExAC TOPMed
rs1181581688 CA342796998	375	I>V		No	ClinGen gnomAD
rs748512443 CA1151698	376	S>G		No	ClinGen ExAC gnomAD
CA30970332 rs764611434	377	I>V		No	ClinGen Ensembl
COSM1228309 CA1151701 rs749783469	381	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs749783469 CA1151702	381	V>L		No	ClinGen ExAC TOPMed gnomAD
CA1151703 rs560124002	382	I>T		No	ClinGen 1000Genomes ExAC gnomAD
rs751864401 CA1151704	383	D>N		No	ClinGen ExAC TOPMed gnomAD
CA1151707 rs540504685 COSM529240	385	D>N	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1226039485 CA342797073	386	R>C		No	ClinGen TOPMed gnomAD
CA30970378 rs893985979	386	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs753844895 CA1151709	390	N>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	395	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1151713 rs755065675	400	A>V		No	ClinGen ExAC gnomAD
CA342797202 rs1481651013	402	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs147787530 CA30970399	403	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147787530 CA1151714	403	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA342797231 rs1424377881	404	T>P		No	ClinGen gnomAD
CA342797269 rs1452453248	406	S>T		No	ClinGen gnomAD
CA342797297 rs1328322671	408	A>T		No	ClinGen TOPMed
rs1571981842 CA342797362	411	W>G		No	ClinGen Ensembl
TCGA novel	412	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1571981854 CA342797438	415	C>G		No	ClinGen Ensembl
TCGA novel	415	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1151716 rs756494595	416	E>K		No	ClinGen ExAC gnomAD
CA342797457 rs1571981890	417	S>T		No	ClinGen Ensembl
CA1151717 rs140896977	419	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140896977 CA342797468	419	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1151718 rs749800041	419	R>H	Variant assessed as Somatic; 4.64e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs749800041 CA30970446	419	R>L		No	ClinGen ExAC gnomAD
rs1292399238 CA342797471	420	K>E		No	ClinGen gnomAD
CA342797476 rs1178431127	420	K>N		No	ClinGen TOPMed
CA1151720 rs778415556	421	P>R		No	ClinGen ExAC TOPMed gnomAD
CA342797818 rs1428296536	422	V>M		No	ClinGen TOPMed
rs1306138232 CA342797859	424	K>R		No	ClinGen gnomAD
CA1151723 rs141914865	429	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA1151722 rs141914865	429	S>T		No	ClinGen ESP ExAC TOPMed gnomAD

No associated diseases with Q9BT88

6 regional properties for Q9BT88

Type	Name	Position	InterPro Accession
domain	C2 domain	157 - 279	IPR000008-1
domain	C2 domain	291 - 426	IPR000008-2
domain	Synaptotagmin	161 - 176	IPR001565-1
domain	Synaptotagmin	176 - 189	IPR001565-2
domain	Synaptotagmin	233 - 248	IPR001565-3
domain	Synaptotagmin	253 - 263	IPR001565-4

Functions

		Description
EC Number
Subcellular Localization	Cytoplasmic vesicle membrane ; Single-pass membrane protein Perikaryon Golgi apparatus, trans-Golgi network membrane ; Single-pass membrane protein Recycling endosome membrane ; Single-pass membrane protein Lysosome membrane ; Single-pass membrane protein Cytoplasmic vesicle, phagosome Cell projection, axon Cell projection, dendrite Postsynaptic density Recycling endosome membrane ; Single-pass membrane protein Cytoplasmic vesicle, clathrin-coated vesicle membrane ; Single-pass membrane protein Perikaryon	Localized in vesicles that travels in axonal and dendritic shafts in both anterograde and retrograde directions In macrophages and microglia, recruited in phagosomes at early stages of phagocytosis (By similarity) Found in the core of the Lewy bodies in the brain of sporadic Parkinson disease patients (PubMed:12925569)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

26 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.
axon	The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter.
clathrin-coated vesicle membrane	The lipid bilayer surrounding a clathrin-coated vesicle.
dendrite	A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body.
dendritic spine	A small, membranous protrusion from a dendrite that forms a postsynaptic compartment, typically receiving input from a single presynapse. They function as partially isolated biochemical and an electrical compartments. Spine morphology is variable:they can be thin, stubby, mushroom, or branched, with a continuum of intermediate morphologies. They typically terminate in a bulb shape, linked to the dendritic shaft by a restriction. Spine remodeling is though to be involved in synaptic plasticity.
early phagosome	A membrane-bounded intracellular vesicle as initially formed upon the ingestion of particulate material by phagocytosis.
excitatory synapse	A synapse in which an action potential in the presynaptic cell increases the probability of an action potential occurring in the postsynaptic cell.
exocytic vesicle	A transport vesicle that mediates transport from an intracellular compartment to the plasma membrane, and fuses with the plasma membrane to release various cargo molecules, such as proteins or hormones, by exocytosis.
inhibitory synapse	A synapse in which an action potential in the presynaptic cell reduces the probability of an action potential occurring in the postsynaptic cell.
integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
lysosomal membrane	The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm.
lysosome	A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions.
neuron projection	A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
perikaryon	The portion of the cell soma (neuronal cell body) that excludes the nucleus.
phagocytic cup	An invagination of the cell membrane formed by an actin dependent process during phagocytosis. Following internalization it is converted into a phagosome.
phagocytic vesicle	A membrane-bounded intracellular vesicle that arises from the ingestion of particulate material by phagocytosis.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
postsynaptic density	An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components.
presynapse	The part of a synapse that is part of the presynaptic cell.
presynaptic active zone membrane	The membrane portion of the presynaptic active zone; it is the site where docking and fusion of synaptic vesicles occurs for the release of neurotransmitters.
recycling endosome	An organelle consisting of a network of tubules that functions in targeting molecules, such as receptors transporters and lipids, to the plasma membrane.
recycling endosome membrane	The lipid bilayer surrounding a recycling endosome.
synapse	The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane.
synaptic vesicle	A secretory organelle, typically 50 nm in diameter, of presynaptic nerve terminals; accumulates in high concentrations of neurotransmitters and secretes these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane.
trans-Golgi network	The network of interconnected tubular and cisternal structures located within the Golgi apparatus on the side distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination.
vesicle	Any small, fluid-filled, spherical organelle enclosed by membrane.

9 GO annotations of molecular function

Name	Definition
beta-tubulin binding	Binding to the microtubule constituent protein beta-tubulin.
calcium ion binding	Binding to a calcium ion (Ca2+).
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.
clathrin binding	Binding to a clathrin heavy or light chain, the main components of the coat of coated vesicles and coated pits, and which also occurs in synaptic vesicles.
identical protein binding	Binding to an identical protein or proteins.
phosphatidylserine binding	Binding to phosphatidylserine, a class of glycophospholipids in which a phosphatidyl group is esterified to the hydroxyl group of L-serine.
SNARE binding	Binding to a SNARE (soluble N-ethylmaleimide-sensitive factor attached protein receptor) protein.
translation initiation factor binding	Binding to a translation initiation factor, any polypeptide factor involved in the initiation of ribosome-mediated translation.
ubiquitin protein ligase binding	Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins.

23 GO annotations of biological process

Name	Definition
autophagy	The cellular catabolic process in which cells digest parts of their own cytoplasm; allows for both recycling of macromolecular constituents under conditions of cellular stress and remodeling the intracellular structure for cell differentiation.
calcium ion regulated lysosome exocytosis	The process of secretion by a cell that results in the release of intracellular molecules contained within a lysosome by fusion of the vesicle with the plasma membrane of a cell, induced by a rise in cytosolic calcium-ion levels.
calcium-ion regulated exocytosis	The release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle by fusion of the vesicle with the plasma membrane of a cell, induced by a rise in cytosolic calcium-ion levels.
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.
establishment of vesicle localization	The directed movement of a vesicle to a specific location.
learning	Any process in an organism in which a relatively long-lasting adaptive behavioral change occurs as the result of experience.
memory	The activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. The main stages involved in the formation and retrieval of memory are encoding (processing of received information by acquisition), storage (building a permanent record of received information as a result of consolidation) and retrieval (calling back the stored information and use it in a suitable way to execute a given task).
negative regulation of cytokine production	Any process that stops, prevents, or reduces the rate of production of a cytokine.
negative regulation of dopamine secretion	Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of dopamine.
negative regulation of endocytosis	Any process that stops, prevents, or reduces the frequency, rate or extent of endocytosis.
negative regulation of interleukin-6 production	Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-6 production.
negative regulation of microglial cell activation	Any process that stops, prevents or reduces the frequency, rate or extent of microglial cell activation.
negative regulation of neurotransmitter secretion	Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of a neurotransmitter.
negative regulation of phagocytosis	Any process that stops, prevents, or reduces the frequency, rate or extent of phagocytosis.
negative regulation of tumor necrosis factor production	Any process that stops, prevents, or reduces the frequency, rate, or extent of tumor necrosis factor production.
plasma membrane repair	The resealing of a cell plasma membrane after cellular wounding due to, for instance, mechanical stress.
positive regulation of protein localization to phagocytic vesicle	Any process that activates or increases the frequency, rate or extent of protein localization to phagocytic vesicle.
regulation of calcium ion-dependent exocytosis	Any process that modulates the frequency, rate or extent of calcium ion-dependent exocytosis.
regulation of defense response to bacterium	Any process that modulates the frequency, rate or extent of defense response to bacterium.
regulation of dopamine secretion	Any process that modulates the frequency, rate or extent of the regulated release of dopamine.
regulation of phagosome maturation	Any process that modulates the frequency, rate or extent of phagosome maturation.
vesicle fusion	Fusion of the membrane of a transport vesicle with its target membrane.
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.

45 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P48018	SYT1	Synaptotagmin-1	Bos taurus (Bovine)	PR
P21521	Syt1	Synaptotagmin 1	Drosophila melanogaster (Fruit fly)	PR
Q86XP0	PLA2G4D	Cytosolic phospholipase A2 delta	Homo sapiens (Human)	PR
Q9HCH5	SYTL2	Synaptotagmin-like protein 2	Homo sapiens (Human)	PR
Q96C24	SYTL4	Synaptotagmin-like protein 4	Homo sapiens (Human)	PR
Q8N9U0	TC2N	Tandem C2 domains nuclear protein	Homo sapiens (Human)	PR
Q8TDW5	SYTL5	Synaptotagmin-like protein 5	Homo sapiens (Human)	PR
Q8IYJ3	SYTL1	Synaptotagmin-like protein 1	Homo sapiens (Human)	PR
P21579	SYT1	Synaptotagmin-1	Homo sapiens (Human)	PR
Q6XYQ8	SYT10	Synaptotagmin-10	Homo sapiens (Human)	PR
Q7L8C5	SYT13	Synaptotagmin-13	Homo sapiens (Human)	PR
Q86SS6	SYT9	Synaptotagmin-9	Homo sapiens (Human)	PR
Q9BQG1	SYT3	Synaptotagmin-3	Homo sapiens (Human)	PR
O00445	SYT5	Synaptotagmin-5	Homo sapiens (Human)	PR
Q9H2B2	SYT4	Synaptotagmin-4	Homo sapiens (Human)	PR
O43581	SYT7	Synaptotagmin-7	Homo sapiens (Human)	PR
Q9BQS2	SYT15	Synaptotagmin-15	Homo sapiens (Human)	PR
Q5T7P8	SYT6	Synaptotagmin-6	Homo sapiens (Human)	PR
P40749	Syt4	Synaptotagmin-4	Mus musculus (Mouse)	PR
Q9EQT6	Syt13	Synaptotagmin-13	Mus musculus (Mouse)	PR
Q9R0N4	Syt10	Synaptotagmin-10	Mus musculus (Mouse)	PR
Q99N80	Sytl1	Synaptotagmin-like protein 1	Mus musculus (Mouse)	PR
Q9R0Q1	Sytl4	Synaptotagmin-like protein 4	Mus musculus (Mouse)	PR
Q8C6N3	Syt15	Synaptotagmin-15	Mus musculus (Mouse)	PR
Q920N7	Syt12	Synaptotagmin-12	Mus musculus (Mouse)	PR
Q80T23	Sytl5	Synaptotagmin-like protein 5	Mus musculus (Mouse)	PR
Q9R0N5	Syt5	Synaptotagmin-5	Mus musculus (Mouse)	PR
Q9R0N9	Syt9	Synaptotagmin-9	Mus musculus (Mouse)	PR
Q9R0N8	Syt6	Synaptotagmin-6	Mus musculus (Mouse)	PR
Q50L43	Pla2g4d	Cytosolic phospholipase A2 delta	Mus musculus (Mouse)	PR
P46096	Syt1	Synaptotagmin-1	Mus musculus (Mouse)	PR
O35681	Syt3	Synaptotagmin-3	Mus musculus (Mouse)	PR
P46097	Syt2	Synaptotagmin-2	Mus musculus (Mouse)	PR
Q91XT6	Tc2n	Tandem C2 domains nuclear protein	Mus musculus (Mouse)	PR
Q9R0N3	Syt11	Synaptotagmin-11	Mus musculus (Mouse)	PR
Q812E4	Sytl5	Synaptotagmin-like protein 5	Rattus norvegicus (Rat)	PR
Q925B5	Syt13	Synaptotagmin-13	Rattus norvegicus (Rat)	PR
O08625	Syt10	Synaptotagmin-10	Rattus norvegicus (Rat)	PR
P47861	Syt5	Synaptotagmin-5	Rattus norvegicus (Rat)	PR
Q62746	Syt6	Synaptotagmin-6	Rattus norvegicus (Rat)	PR
P97610	Syt12	Synaptotagmin-12	Rattus norvegicus (Rat)	PR
P40748	Syt3	Synaptotagmin-3	Rattus norvegicus (Rat)	PR
Q925C0	Syt9	Synaptotagmin-9	Rattus norvegicus (Rat)	PR
P59926	Syt15	Synaptotagmin-15	Rattus norvegicus (Rat)	PR
P21707	Syt1	Synaptotagmin-1	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MAEITNIRPS	FDVSPVVAGL	IGASVLVVCV	SVTVFVWSCC	HQQAEKKQKN	PPYKFIHMLK
70	80	90	100	110	120
GISIYPETLS	NKKKIIKVRR	DKDGPGREGG	RRNLLVDAAE	AGLLSRDKDP	RGPSSGSCID
130	140	150	160	170	180
QLPIKMDYGE	ELRSPITSLT	PGESKTTSPS	SPEEDVMLGS	LTFSVDYNFP	KKALVVTIQE
190	200	210	220	230	240
AHGLPVMDDQ	TQGSDPYIKM	TILPDKRHRV	KTRVLRKTLD	PVFDETFTFY	GIPYSQLQDL
250	260	270	280	290	300
VLHFLVLSFD	RFSRDDVIGE	VMVPLAGVDP	STGKVQLTRD	IIKRNIQKCI	SRGELQVSLS
310	320	330	340	350	360
YQPVAQRMTV	VVLKARHLPK	MDITGLSGNP	YVKVNVYYGR	KRIAKKKTHV	KKCTLNPIFN
370	380	390	400	410	420
ESFIYDIPTD	LLPDISIEFL	VIDFDRTTKN	EVVGRLILGA	HSVTASGAEH	WREVCESPRK
430
PVAKWHSLSE	Y