AiPD: Autoinhibited Protein Database

O00445

Gene name	SYT5
Protein name	Synaptotagmin-5
Names	Synaptotagmin V, SytV
Species	Homo sapiens (Human)
KEGG Pathway	hsa:6861
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-123 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-123 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

3 structures for O00445

Entry ID	Method	Resolution	Chain	Position	Source
5H4Y	X-ray	190 A	A	102-242	PDB
5H4Z	X-ray	301 A	A/B	102-242	PDB
AF-O00445-F1	Predicted				AlphaFoldDB

313 variants for O00445

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
TCGA novel	2	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1489190264 CA407433040	3	P>A		No	ClinGen TOPMed gnomAD
rs1265566461 CA407433032	3	P>L		No	ClinGen gnomAD
rs2301279 VAR_052240 CA9668715 CA407433008	4	E>D		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
TCGA novel	6	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	6	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1599948676 CA407432992	6	P>S		No	ClinGen Ensembl
rs756811651 CA9668714	7	T>A		No	ClinGen ExAC TOPMed gnomAD
rs777516238 CA9668711	10	P>L		No	ClinGen ExAC TOPMed
CA9668708 rs201746906	13	P>S		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	14	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1294262569 CA407432916	15	T>S		No	ClinGen gnomAD
TCGA novel	16	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA310123431 rs879102667	17	P>A		No	ClinGen Ensembl
CA9668706 rs761119101	17	P>R		No	ClinGen ExAC gnomAD
CA9668705 rs751013867	18	D>N		No	ClinGen ExAC gnomAD
rs1381362363 CA407432875	20	S>G		No	ClinGen TOPMed
rs768104737 CA310123429	21	R>G		No	ClinGen ExAC TOPMed gnomAD
CA9668703 rs761982837	21	R>H		No	ClinGen ExAC TOPMed gnomAD
CA310123424 rs761982837	21	R>P		No	ClinGen ExAC TOPMed gnomAD
CA9668704 rs768104737	21	R>S		No	ClinGen ExAC TOPMed gnomAD
CA407432837 rs1453010072	22	I>F		No	ClinGen gnomAD
rs768932757 CA407432817	23	S>C		No	ClinGen ExAC gnomAD
CA9668701 rs768932757	23	S>R		No	ClinGen ExAC gnomAD
rs763015808 CA9668700	23	S>T		No	ClinGen ExAC TOPMed gnomAD
CA9668698 rs775772898	24	H>L		No	ClinGen ExAC gnomAD
rs745642654 CA9668695	25	G>D		No	ClinGen ExAC gnomAD
rs76590231 CA9668693	27	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752062402 CA9668660	28	P>L		No	ClinGen ExAC gnomAD
CA310122121 rs537732381	29	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA407431935 COSM233534 rs537732381	29	P>L	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs537732381 CA9668658	29	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs765467744 CA9668655	30	W>*		No	ClinGen ExAC
CA407431913 rs1219335741	30	W>*		No	ClinGen gnomAD
CA407431908 rs1219335741	30	W>C		No	ClinGen gnomAD
rs757111736	30	W>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA310122111 rs181797959	34	T>A		No	ClinGen 1000Genomes TOPMed
CA9668654 rs776419997	36	V>L		No	ClinGen ExAC TOPMed gnomAD
CA9668653 rs776419997	36	V>M		No	ClinGen ExAC TOPMed gnomAD
CA407431750 rs1568879533	40	G>V		No	ClinGen Ensembl
CA9668652 rs371106042	41	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA310122109 rs983435346	43	I>N		No	ClinGen gnomAD
rs555752007 CA310122106	44	F>L		No	ClinGen Ensembl
rs950834783 CA310122105	45	S>N		No	ClinGen TOPMed
rs1466761507 CA407431622	46	C>W		No	ClinGen TOPMed
CA310122101 rs1027690294	47	C>Y		No	ClinGen Ensembl
rs772003863 CA9668649	49	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs986946876 CA407431523	51	Y>C		No	ClinGen TOPMed
rs986946876 CA9668647	51	Y>S		No	ClinGen TOPMed
rs761426547 CA407431509	52	R>G		No	ClinGen ExAC TOPMed gnomAD
rs773937460 CA9668645	52	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs761426547 CA9668646	52	R>W		No	ClinGen ExAC TOPMed gnomAD
CA9668643 rs749015608	55	C>R		No	ClinGen ExAC TOPMed gnomAD
rs771247354 CA9668642	55	C>S		No	ClinGen ExAC TOPMed gnomAD
CA9668641 rs771247354	55	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs373346720 CA9668639 COSM568101	56	R>Q	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA9668640 rs747366969	56	R>W		No	ClinGen ExAC TOPMed gnomAD
rs141150330 COSM296788 CA9668636	58	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA9668637 rs752788782	58	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA407431407 rs1357047172	59	T>A		No	ClinGen gnomAD
rs145063347 CA9668635	59	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9668634 rs145063347	59	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766604380 CA9668633	60	G>A		No	ClinGen ExAC gnomAD
rs766604380 CA310122069	60	G>D		No	ClinGen ExAC gnomAD
CA9668631 rs750181199	65	A>P		No	ClinGen ExAC gnomAD
TCGA novel	65	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9668632 rs750181199	65	A>T		No	ClinGen ExAC gnomAD
CA407431293 rs1599947297	65	A>V		No	ClinGen Ensembl
rs1023650234 CA310122057	67	A>G		No	ClinGen TOPMed
rs1439774790 CA407431234	69	V>I		No	ClinGen gnomAD
rs761771414 CA9668629	70	H>Y		No	ClinGen ExAC
CA310122054 rs945017037	71	L>F		No	ClinGen gnomAD
rs774426112 CA9668627	71	L>R		No	ClinGen ExAC gnomAD
CA9668626 rs768339461	73	E>K		No	ClinGen ExAC gnomAD
CA407431136 rs1158346507	74	V>L		No	ClinGen gnomAD
rs1568879239 CA407431119	75	K>T		No	ClinGen Ensembl
CA9668623 rs147841968	76	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA310122038 rs147841968	76	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775043079 CA9668622	77	L>M		No	ClinGen ExAC gnomAD
TCGA novel	79	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9668621 rs370240780	80	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA407431060 rs1599947196	80	S>R		No	ClinGen Ensembl
CA407431041 rs1452046473	82	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA407431044 rs1223884069	82	I>V		No	ClinGen TOPMed gnomAD
CA9668619 rs747357557	83	D>N		No	ClinGen ExAC TOPMed gnomAD
rs527419206 CA9668598	89	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9668596 rs748493556	93	E>Q		No	ClinGen ExAC gnomAD
CA407429907 rs1168697264	97	S>C		No	ClinGen gnomAD
CA407429901 rs1263815848	98	G>R		No	ClinGen gnomAD
CA407429897 rs1263815848	98	G>W		No	ClinGen gnomAD
CA407429879 rs1318941677	99	P>Q		No	ClinGen TOPMed
rs774882460 CA9668595	99	P>S		No	ClinGen ExAC gnomAD
CA9668593 rs749339915	100	G>E		No	ClinGen ExAC gnomAD
CA9668592 rs561836708	102	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
CA310121370 rs377568820	103	V>M		No	ClinGen ESP
CA310121367 rs1045914	104	A>T		No	ClinGen TOPMed gnomAD
CA407429749 rs1255590622	105	D>V		No	ClinGen TOPMed gnomAD
CA9668589 rs781247231	110	G>R		No	ClinGen ExAC gnomAD
VAR_034528 rs11542503 CA9668588	111	R>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA407429601 rs1192409501	113	Q>H		No	ClinGen TOPMed
CA407429572 rs1423886244	115	S>F		No	ClinGen TOPMed
rs148666325 CA407429488	119	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs764151845 CA9668586	119	D>N		No	ClinGen ExAC gnomAD
CA9668583 rs764868578	121	Q>*		No	ClinGen ExAC gnomAD
CA9668582 rs144089464	123	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA407429388 rs1405838423	124	Q>*		No	ClinGen TOPMed
TCGA novel	132	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369119323 CA9668565	133	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA407429149 rs1267792377	134	G>R		No	ClinGen gnomAD
CA407429134 rs1223617740	134	G>V		No	ClinGen gnomAD
CA9668564 rs765068525	136	A>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	137	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754560129 CA9668563	138	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1336634972 CA407429038	139	D>G		No	ClinGen TOPMed gnomAD
rs1322823837 CA407429054	139	D>N		No	ClinGen gnomAD
rs766044437 CA9668561	140	L>I		No	ClinGen ExAC gnomAD
CA9668560 rs149508178	142	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9668559 rs750069705	143	S>F		No	ClinGen ExAC gnomAD
rs374784329 CA9668558	144	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1599944461 CA407428902	145	D>E		No	ClinGen Ensembl
rs1352113939 CA407428884	146	P>R		No	ClinGen TOPMed
CA407428780 rs1376725238	151	Y>C		No	ClinGen gnomAD
CA9668556 rs776105632	151	Y>H		No	ClinGen ExAC gnomAD
CA407428731 rs1374265803	154	P>R		No	ClinGen gnomAD
CA310121282 rs1045915	154	P>T		No	ClinGen Ensembl
CA407428670 rs1200739220	156	K>I		No	ClinGen gnomAD
CA407428661 rs1352217798	157	R>G		No	ClinGen TOPMed
CA407428657 rs1198311817	157	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1255026588 CA407428640	158	R>K		No	ClinGen TOPMed
rs1488286594 CA407428608	159	R>P		No	ClinGen gnomAD
TCGA novel	159	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA407428593 rs1599944372	160	Y>D		No	ClinGen Ensembl
CA310121272 rs868459585	161	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs905015368 CA407428478	164	V>L		No	ClinGen TOPMed gnomAD
CA310121265 rs905015368	164	V>M		No	ClinGen TOPMed gnomAD
CA407428462 rs1313995748	165	H>D		No	ClinGen TOPMed gnomAD
rs1313995748 CA407428457	165	H>Y		No	ClinGen TOPMed gnomAD
rs1599944318 CA407428410	167	Q>K		No	ClinGen Ensembl
rs747302742 CA9668551	168	T>A		No	ClinGen ExAC gnomAD
CA407428378 COSM1481533 rs1457391616	168	T>M	large_intestine Variant assessed as Somatic; impact. breast [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs778128887 CA9668550	170	N>S		No	ClinGen ExAC TOPMed gnomAD
CA407428270 rs1400995009	172	H>P		No	ClinGen gnomAD
CA9668549 rs371355933	172	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA407428243 rs1170419054	173	F>V		No	ClinGen gnomAD
rs778943821 CA9668547	174	G>E		No	ClinGen ExAC gnomAD
CA407428174 rs779603284	176	T>I		No	ClinGen ExAC TOPMed gnomAD
rs779603284 CA9668544	176	T>N		No	ClinGen ExAC TOPMed gnomAD
rs753347515 CA9668545	176	T>S		No	ClinGen ExAC gnomAD
CA407428164 rs1568877423	177	F>V		No	ClinGen Ensembl
TCGA novel	178	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA407428135 rs1196248310	178	A>V		No	ClinGen gnomAD
CA9668543 rs755603596	180	K>M		No	ClinGen ExAC gnomAD
CA310121129 rs910486633	181	V>A		No	ClinGen TOPMed
CA407427972 rs1446923812	183	Y>F		No	ClinGen TOPMed
CA9668522 rs761407756	188	G>D		No	ClinGen ExAC TOPMed gnomAD
rs761407756 CA407427905	188	G>V		No	ClinGen ExAC TOPMed gnomAD
CA407427891 rs1401838982	190	V>L		No	ClinGen gnomAD
CA9668519 rs753111472	192	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1390654462 CA407427831	194	A>V		No	ClinGen gnomAD
rs1599943600 CA407427817	195	V>G		No	ClinGen Ensembl
rs1446848990 CA407427823	195	V>L		No	ClinGen gnomAD
rs150273950 CA9668517	196	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1178222438 CA407427754	198	F>L		No	ClinGen TOPMed gnomAD
CA407427747 rs1438134925	199	D>Y		No	ClinGen TOPMed gnomAD
CA9668513 rs145815694	200	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM3797547 rs141073446 CA9668512	203	R>C	urinary_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA407427686 rs1050156463	203	R>H		No	ClinGen TOPMed
CA310121101 rs1050156463	203	R>L		No	ClinGen TOPMed
CA9668511 rs567286756	206	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs774617144 CA9668509	207	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1237491036 CA407427623	208	G>W		No	ClinGen gnomAD
rs1378675864 CA407427601	209	E>D		No	ClinGen gnomAD
rs1279567373 CA407427593	210	V>L		No	ClinGen gnomAD
rs768381348 CA9668508	211	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA407427574 rs1177256311	212	V>I		No	ClinGen TOPMed
rs775436997 CA9668505	214	M>V		No	ClinGen ExAC TOPMed gnomAD
CA9668504 rs769669495	215	S>G		No	ClinGen ExAC gnomAD
CA407427531 rs1470819384	215	S>T		No	ClinGen TOPMed
rs745393869 CA9668503	219	L>P		No	ClinGen ExAC gnomAD
CA9668502 rs201345634	220	G>E		No	ClinGen ESP ExAC gnomAD
CA407427475 CA407427478 rs1418029557	220	G>R		No	ClinGen TOPMed gnomAD
rs201345634 CA9668501	220	G>V		No	ClinGen ESP ExAC gnomAD
CA407427465 rs1176712345	221	R>L		No	ClinGen TOPMed
TCGA novel	221	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA407427461 rs1599943393	222	P>R		No	ClinGen Ensembl
rs961473293 CA407427455	223	V>A		No	ClinGen TOPMed
rs961473293 CA407427456	223	V>E		No	ClinGen TOPMed
rs961473293 CA310121062	223	V>G		No	ClinGen TOPMed
CA9668497 rs754218369	223	V>L		No	ClinGen ExAC gnomAD
rs909966949 CA310121057	225	A>D		No	ClinGen TOPMed gnomAD
rs1342227865 CA407427435	226	W>*		No	ClinGen gnomAD
CA407427436 rs1218332523	226	W>L		No	ClinGen gnomAD
CA407427440 rs1284553033	226	W>R		No	ClinGen gnomAD
CA9668495 rs756634510	227	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1398572375 CA407427399	229	L>P		No	ClinGen gnomAD
rs1398572375 CA407427401	229	L>R		No	ClinGen gnomAD
CA9668493 rs767549018	230	Q>L		No	ClinGen ExAC gnomAD
rs762758644 CA9668489	231	A>E		No	ClinGen ExAC TOPMed gnomAD
rs762758644 CA407427372	231	A>G		No	ClinGen ExAC TOPMed gnomAD
CA9668491 rs774472391	231	A>S		No	ClinGen ExAC gnomAD
rs762758644 CA9668490	231	A>V		No	ClinGen ExAC TOPMed gnomAD
rs970238457 CA310121040	232	A>V		No	ClinGen TOPMed gnomAD
rs1191180615 CA407427357	233	P>L		No	ClinGen gnomAD
CA9668488 rs775205527	233	P>T		No	ClinGen ExAC gnomAD
rs1438847852 CA407427351	234	R>G		No	ClinGen TOPMed
rs776619020 CA9668485	234	R>P		No	ClinGen ExAC TOPMed gnomAD
CA9668486 rs776619020	234	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA407427314 rs1479830852	236	E>D		No	ClinGen TOPMed
CA9668483 rs541387700	236	E>G		No	ClinGen 1000Genomes ExAC gnomAD
rs977111480 CA310120929	238	E>*		No	ClinGen gnomAD
CA407427223 rs977111480	238	E>K		No	ClinGen gnomAD
CA9668447 rs143785511	239	K>T		No	ClinGen ESP ExAC gnomAD
CA310120925 rs968362704	240	L>I		No	ClinGen Ensembl
CA407427159 rs1599942742	242	D>G		No	ClinGen Ensembl
rs1292850868 CA407427150	243	I>V		No	ClinGen gnomAD
CA9668446 rs771753255	244	C>S		No	ClinGen ExAC gnomAD
rs936232290 CA310120917	244	C>W		No	ClinGen TOPMed
CA9668445 rs774831619	247	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1378130910 CA407427093	248	R>C		No	ClinGen TOPMed gnomAD
CA9668443 rs533591618	248	R>H		No	ClinGen 1000Genomes ExAC gnomAD
rs746231123 CA9668442	249	Y>C		No	ClinGen ExAC gnomAD
rs1266099178 CA407427074	251	P>L		No	ClinGen gnomAD
TCGA novel	252	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771195883 CA9668440	254	G>A		No	ClinGen ExAC gnomAD
CA407427046 rs1223700699	256	L>F		No	ClinGen gnomAD
CA407427044 rs1223700699	256	L>V		No	ClinGen gnomAD
CA407427035 rs1259211182	257	T>I		No	ClinGen gnomAD
rs1190040113 CA407427032	258	V>F		No	ClinGen Ensembl
rs1190040113 CA407427034	258	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA9668438 rs564726202	259	I>M		No	ClinGen 1000Genomes ExAC gnomAD
rs141139812 CA9668437	260	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA310120901 rs1030197643	261	L>R		No	ClinGen TOPMed gnomAD
CA407427011 rs1172140120	262	E>*		No	ClinGen TOPMed gnomAD
CA407427013 rs1172140120	262	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA9668435 rs779130477	263	A>G		No	ClinGen ExAC gnomAD
rs1158134687 CA407427000	264	K>Q		No	ClinGen TOPMed
TCGA novel	265	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753581634 CA9668433	266	L>Q		No	ClinGen ExAC gnomAD
CA407426979 rs1290232876	267	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1454050217 CA407426973	267	K>N		No	ClinGen gnomAD
COSM4127891 rs766267256 CA9668432	270	D>E	ovary [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
TCGA novel	270	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9668431 rs77333504	271	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs77333504 CA407426947	271	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA407426853 rs1599942082	276	D>E		No	ClinGen Ensembl
rs1568875982 CA407426847	277	P>Q		No	ClinGen Ensembl
CA9668403 rs775249021	279	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	286	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	287	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9668400 rs750454898	289	K>E		No	ClinGen ExAC TOPMed gnomAD
CA9668399 rs772576276	290	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1178099622 CA407426496	291	R>Q		No	ClinGen gnomAD
CA407426484 rs1275059252	292	K>E		No	ClinGen gnomAD
TCGA novel	295	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1196365185 CA407426360	296	T>A		No	ClinGen gnomAD
rs202177638 CA9668398	297	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA407426214 rs1247701906	301	T>S		No	ClinGen gnomAD
CA9668396 rs552307400	302	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA9668395 rs201131787	305	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1220545420 CA407425980	308	E>D		No	ClinGen gnomAD
CA9668393 rs780341509	308	E>K		No	ClinGen ExAC gnomAD
CA9668391 rs139660647	311	S>G		No	ClinGen ESP ExAC gnomAD
rs781199324 CA9668390	312	F>L		No	ClinGen ExAC gnomAD
rs757104041 CA9668389	314	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9668388 rs751596272	315	P>T		No	ClinGen ExAC gnomAD
CA407425731 rs1468651055	316	C>G		No	ClinGen gnomAD
rs1234717430 CA407425685	317	D>Y		No	ClinGen gnomAD
CA9668386 rs550607880	319	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs988785642 CA310120358	323	Q>*		No	ClinGen TOPMed gnomAD
rs1418455780 CA407424331	323	Q>H		No	ClinGen TOPMed gnomAD
rs778464518 CA9668367	325	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1242356810 CA407424227	327	T>P		No	ClinGen gnomAD
CA407424186 rs1202690009	328	V>L		No	ClinGen gnomAD
rs754474231 CA9668366	329	L>R		No	ClinGen ExAC TOPMed gnomAD
CA407424134 rs1264536536	331	Y>C		No	ClinGen gnomAD
CA9668365 rs753541581	332	D>N		No	ClinGen ExAC TOPMed gnomAD
CA407424121 rs753541581	332	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs934555309 CA310120355	333	K>E		No	ClinGen TOPMed gnomAD
rs1296585453 CA407423917	343	V>E		No	ClinGen TOPMed
CA407423909 rs1452272713	344	A>S		No	ClinGen gnomAD
rs1380656801 CA407423907	344	A>V		No	ClinGen gnomAD
CA407423903 rs1446515335	345	V>L		No	ClinGen gnomAD
rs762183194 CA407423892	347	A>P		No	ClinGen ExAC TOPMed gnomAD
rs762183194 CA9668363	347	A>T		No	ClinGen ExAC TOPMed gnomAD
CA407423873 rs1420016487	350	G>D		No	ClinGen gnomAD
CA407423870 rs1182594836	351	G>R		No	ClinGen gnomAD
rs763433714 CA9668360	352	A>S		No	ClinGen ExAC TOPMed gnomAD
CA9668359 rs776050414	355	R>Q		No	ClinGen ExAC gnomAD
CA407423847 rs1321881444	355	R>W		No	ClinGen TOPMed
CA407423838 rs1390638402	356	H>Q		No	ClinGen gnomAD
rs1183676048 CA407423842	356	H>Y		No	ClinGen gnomAD
rs978382119 CA310120332	364	P>L		No	ClinGen TOPMed gnomAD
CA407423777 rs1309626616	365	R>P		No	ClinGen gnomAD
CA407423773 rs1386710653	366	R>Q		No	ClinGen gnomAD
rs1275868735 CA407423775	366	R>W		No	ClinGen gnomAD
rs969811362 CA310120325	367	P>L		No	ClinGen TOPMed
rs1357559079 CA407423768	367	P>S		No	ClinGen gnomAD
rs765455519 CA9668358	369	A>V		No	ClinGen ExAC TOPMed gnomAD
CA407423712 rs1296345549	372	H>Q		No	ClinGen gnomAD
rs1372755266 CA407423719	372	H>Y		No	ClinGen gnomAD
CA407423698 rs1238619033	373	S>L		No	ClinGen gnomAD
rs915144103 CA310120321	374	L>P		No	ClinGen Ensembl
rs1162715552 CA407423676	375	R>L		No	ClinGen gnomAD
rs1354886780 CA407423682	375	R>W		No	ClinGen gnomAD
rs1266398283 CA407423636	378	D>G		No	ClinGen TOPMed
CA407423622 rs1422295613	379	R>*		No	ClinGen gnomAD
CA310120319 rs990595392	379	R>Q		No	ClinGen TOPMed gnomAD
CA9668357 rs191124184	381	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs921892651 CA310120316	382	L>Q		No	ClinGen Ensembl
rs1370060441 CA407423541	385	A>S		No	ClinGen TOPMed
rs1430590006 CA407423533	385	A>V		No	ClinGen TOPMed
CA9668356 rs777024180	386	P>S		No	ClinGen ExAC TOPMed gnomAD
CA9668355 rs771229957	387	P>W		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with O00445

6 regional properties for O00445

Type	Name	Position	InterPro Accession
domain	C2 domain	108 - 229	IPR000008-1
domain	C2 domain	239 - 372	IPR000008-2
domain	Synaptotagmin	112 - 127	IPR001565-1
domain	Synaptotagmin	127 - 140	IPR001565-2
domain	Synaptotagmin	182 - 197	IPR001565-3
domain	Synaptotagmin	202 - 212	IPR001565-4

Functions

		Description
EC Number
Subcellular Localization	Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane ; Single-pass membrane protein Recycling endosome membrane ; Single-pass membrane protein	In mast cells, localizes to the endocytic recycling compartment
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

11 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.
dense core granule	Electron-dense organelle with a granular internal matrix; contains proteins destined to be secreted.
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.
integral component of neuronal dense core vesicle membrane	The component of the neuronal dense core vesicle 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.
neuronal cell body	The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
proximal neuron projection	The portion of an axon or dendrite that is close to the neuronal cell body.
recycling endosome membrane	The lipid bilayer surrounding a recycling endosome.
synaptic vesicle membrane	The lipid bilayer surrounding a synaptic vesicle.

8 GO annotations of molecular function

Name	Definition
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.
phosphatidylinositol-4,5-bisphosphate binding	Binding to phosphatidylinositol-4,5-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 4' and 5' positions.
phosphatidylserine binding	Binding to phosphatidylserine, a class of glycophospholipids in which a phosphatidyl group is esterified to the hydroxyl group of L-serine.
protein heterodimerization activity	Binding to a nonidentical protein to form a heterodimer.
SNARE binding	Binding to a SNARE (soluble N-ethylmaleimide-sensitive factor attached protein receptor) protein.
syntaxin binding	Binding to a syntaxin, a SNAP receptor involved in the docking of synaptic vesicles at the presynaptic zone of a synapse.

8 GO annotations of biological process

Name	Definition
calcium ion-regulated exocytosis of neurotransmitter	The release of a neurotransmitter into the synaptic cleft by exocytosis of synaptic vesicles, where the release step is dependent on 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.
chemical synaptic transmission	The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse.
regulation of calcium ion-dependent exocytosis	Any process that modulates the frequency, rate or extent of calcium ion-dependent exocytosis.
regulation of dopamine secretion	Any process that modulates the frequency, rate or extent of the regulated release of dopamine.
synaptic vesicle endocytosis	A vesicle-mediated transport process, in which the synaptic vesicle membrane constituents are retrieved from the presynaptic membrane on the axon terminal after neurotransmitter secretion by exocytosis. Synaptic vesicle endocytosis can occur via clathrin-dependent and clathrin-independent mechanisms.
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
Q9BQG1	SYT3	Synaptotagmin-3	Homo sapiens (Human)	PR
Q86SS6	SYT9	Synaptotagmin-9	Homo sapiens (Human)	PR
P21579	SYT1	Synaptotagmin-1	Homo sapiens (Human)	PR
Q9BT88	SYT11	Synaptotagmin-11	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
Q7L8C5	SYT13	Synaptotagmin-13	Homo sapiens (Human)	PR
Q6XYQ8	SYT10	Synaptotagmin-10	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
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
Q9R0N3	Syt11	Synaptotagmin-11	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
Q9R0N5	Syt5	Synaptotagmin-5	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
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
P47861	Syt5	Synaptotagmin-5	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MFPEPPTPGP	PSPDTPPDSS	RISHGPVPPW	ALATIVLVSG	LLIFSCCFCL	YRKSCRRRTG
70	80	90	100	110	120
KKSQAQAQVH	LQEVKGLGQS	YIDKVQPEVE	ELEPAPSGPG	QQVADKHELG	RLQYSLDYDF
130	140	150	160	170	180
QSGQLLVGIL	QAMGLAALDL	GGSSDPYVRV	YLLPDKRRRY	ETKVHRQTLN	PHFGETFAFK
190	200	210	220	230	240
VPYVELGGRV	LVMAVYDFDR	FSRNDAIGEV	RVPMSSVDLG	RPVQAWRELQ	AAPREEQEKL
250	260	270	280	290	300
GDICFSLRYV	PTAGKLTVIV	LEAKNLKKMD	VGGLSDPYVK	VHLLQGGKKV	RKKKTTIKKN
310	320	330	340	350	360
TLNPYYNEAF	SFEVPCDQVQ	KVQVELTVLD	YDKLGKNEAI	GRVAVGAAAG	GAGLRHWADM
370	380
LANPRRPIAQ	WHSLRPPDRV	RLLPAP