AiPD: Autoinhibited Protein Database

P61266

Gene name	STX1B (STX1B1, STX1B2)
Protein name	Syntaxin-1B
Names	Syntaxin-1B1, Syntaxin-1B2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:112755
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-50 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-50 (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 P61266

Entry ID	Method	Resolution	Chain	Position	Source
AF-P61266-F1	Predicted				AlphaFoldDB

191 variants for P61266

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001065850 rs1596723978	1	M>L	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinVar dbSNP
rs1596723978 RCV000800383	1	M>V	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinVar dbSNP
RCV001301266 rs2056675258	6	Q>E	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinVar dbSNP
CA8018543 RCV001069504 rs774963206	9	R>Q	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA8018519 rs368619665 RCV001239701 RCV002563953	11	A>V	Generalized epilepsy with febrile seizures plus, type 9 Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001301910 rs2056630459	12	K>R	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinVar dbSNP
rs1567379671 RCV000687171	13	D>missing	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinVar dbSNP
rs1397633628 CA395652056 RCV001045252	21	V>A	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001201685 CA8018514 rs769729036	23	V>M	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000540305 rs758734411 RCV001558024 CA8018509 COSM970067	32	F>L	Generalized epilepsy with febrile seizures plus, type 9 Variant assessed as Somatic; 0.0 impact. endometrium [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD
RCV001547050 RCV001298592 rs2056629841	35	Q>K	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinVar dbSNP
RCV000149791 rs1114167275	45	K>RMCIE	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinVar dbSNP
CA175019 RCV001374902 RCV000149792 rs200979563	47	S>*	Generalized epilepsy with febrile seizures plus, type 9 Neurodevelopmental disorder [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA395651530 RCV000792923 rs1463703956	55	K>Q	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000995654 rs1596719437	56	Q>missing	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinVar dbSNP
rs724159973 CA175017 RCV000149790	56	Q>*	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001321748 rs2056625948	60	I>V	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinVar dbSNP
RCV002409464 RCV001056957 rs778453959 CA8018461 RCV001311444	63	A>S	Generalized epilepsy with febrile seizures plus, type 9 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA8018441 rs748657799 RCV001221313 RCV000429232	72	Q>R	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA8018437 RCV001224736 rs778653532	84	T>M	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs2056624422 RCV001243161	85	A>missing	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinVar dbSNP
rs2056624297 RCV001230489	90	S>A	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinVar dbSNP
RCV001317811 rs2056624213	94	A>T	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinVar dbSNP
CA395649822 RCV000995653 rs781210585	98	S>N	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs2056602250 RCV001315247	104	G>E	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinVar dbSNP
rs3186882 RCV001312844	107	R>H	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinVar dbSNP
RCV001216153 rs868539367	115	R>P	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinVar dbSNP
rs1567378099 RCV002533855 CA395649167 RCV000760947	132	E>*	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1596716888 RCV000814402	135	A>missing	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinVar dbSNP
RCV001347639 CA8018374 RCV001773694 rs780166656	143	R>H	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1555494259 CA395648988 RCV000624403	144	C>F	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA395648862 RCV000652472 rs1327694789 RCV002534175	155	T>A	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA395648716 RCV001858018 RCV000520354 rs1555494226	168	L>P	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000814666 rs1596716568 CA395648650	178	D>G	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001308795 rs2056574366	183	D>V	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinVar dbSNP
rs2056574153 RCV001323767	191	L>P	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinVar dbSNP
RCV000931308 RCV001772169 CA280568686 rs576127046	192	N>S	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001035790 RCV003128423 rs2056574109	196	T>M	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinVar dbSNP
RCV000809934 rs1596714723 CA395647368	199	N>D	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001299778 TCGA novel rs2056573886 RCV002070128	210	E>K	Generalized epilepsy with febrile seizures plus, type 9 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinVar NCI-TCGA dbSNP
RCV001056829 rs769892442 CA8018307	213	D>N	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs724159974 CA175021 RCV000149793 VAR_072675	216	V>E	Generalized epilepsy with febrile seizures plus, type 9 GEFSP9; loss of function mutation [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000149794 CA175022 rs727502806 VAR_072676	226	G>R	Generalized epilepsy with febrile seizures plus, type 9 GEFSP9 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000989596 rs1596714579	229	I>N	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinVar dbSNP
rs760876430 CA8018285 RCV001058025	231	R>C	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA395646938 COSM970060 rs1183707872 RCV001308036	231	R>H	Generalized epilepsy with febrile seizures plus, type 9 Variant assessed as Somatic; 0.0 impact. endometrium [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD
RCV002318239 rs780843272 RCV001386179 CA395646823	245	R>*	Generalized epilepsy with febrile seizures plus, type 9 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP
RCV001069433 rs1246807785 CA395646822	245	R>Q	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs2056572481 RCV001265827	256	Y>*	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV001367467 rs2056572447 RCV001265705	258	S>N	Generalized epilepsy with febrile seizures plus, type 9 Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
rs779750229 RCV000692119 CA8018275	261	R>Q	Generalized epilepsy with febrile seizures plus, type 9 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
RCV001069050 rs2056572301	262	R>K	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinVar dbSNP
CA395645978 rs1596714308 RCV000812767	275	G>R	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs2056569948 RCV001053910	278	L>S	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinVar dbSNP
CA395645872 RCV000812815 rs1596714288	281	S>P	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000822769 CA395645857 rs763428520	282	I>N	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000255888 RCV001266669 CA8018222 rs763428520 RCV001086762	282	I>T	Generalized epilepsy with febrile seizures plus, type 9 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs773649592 RCV000809555 CA8018221	283	G>V	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs762705451 RCV001235298 RCV001237641	285	T>missing	Generalized epilepsy with febrile seizures plus, type 9 [ClinVar]	Yes	ClinVar dbSNP
CA280582284 rs868060244	7	E>D		No	ClinGen Ensembl
rs1164248773 CA395654020	9	R>W		No	ClinGen gnomAD
CA395653989 rs1596723955	10	S>R		No	ClinGen Ensembl
CA280576395 rs868467312	12	K>E		No	ClinGen Ensembl
rs1430779031 CA395652181	13	D>N		No	ClinGen gnomAD
rs1372043206 CA395652160	14	S>G		No	ClinGen gnomAD
rs763031966 CA8018516	18	E>D		No	ClinGen ExAC TOPMed gnomAD
RCV000379006 rs886041666	20	V>missing		No	ClinVar dbSNP
rs1425336336 CA395652060	21	V>I		No	ClinGen gnomAD
rs548580499 CA8018512	25	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8018511 rs768866902	25	R>Q		No	ClinGen ExAC gnomAD
rs548580499 CA8018513	25	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA395651980 rs1277040146	27	H>R		No	ClinGen gnomAD
RCV000902453 CA395651759 rs1596719500	38	E>Q		No	ClinGen ClinVar Ensembl dbSNP
CA395651733 rs1379471980	40	R>W		No	ClinGen gnomAD
CA395651719 rs1305714163	41	G>D		No	ClinGen TOPMed
rs1428045237 CA395651723	41	G>R		No	ClinGen gnomAD
rs989371299 CA280575992	43	I>F		No	ClinGen TOPMed
rs750185897 CA8018473	43	I>T		No	ClinGen ExAC TOPMed gnomAD
rs989371299 CA395651691	43	I>V		No	ClinGen TOPMed
rs1028846760 CA280575966	45	K>E		No	ClinGen TOPMed gnomAD
rs200979563 CA8018471 COSM164675	47	S>L	breast [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA395651625 rs1223656803	48	E>Q		No	ClinGen gnomAD
rs1374680398 CA395651596	50	V>M		No	ClinGen gnomAD
CA395651580 rs1596719450	51	E>G		No	ClinGen Ensembl
CA395651546 rs1596719447	53	V>G		No	ClinGen Ensembl
rs1463703956 CA395651529	55	K>E		No	ClinGen gnomAD
rs202077851 CA395651475	59	A>S		No	ClinGen ExAC TOPMed gnomAD
rs202077851 CA8018465	59	A>T		No	ClinGen ExAC TOPMed gnomAD
CA8018463 rs771304925	62	A>S		No	ClinGen ExAC gnomAD
rs1239874547 CA395651343	69	K>T		No	ClinGen TOPMed
TCGA novel	75	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8018439 rs771584796	76	D>N		No	ClinGen ExAC gnomAD
CA280575713 rs554742971	80	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
CA8018438 rs778653532	84	T>K		No	ClinGen ExAC gnomAD
rs1412773144 CA395651037	85	A>S		No	ClinGen TOPMed
rs1180495968 CA395651028	85	A>V		No	ClinGen gnomAD
rs1482908756 CA395650977	87	K>M		No	ClinGen gnomAD
CA395650991 rs1482908756	87	K>T		No	ClinGen gnomAD
CA280575677 rs995045434	88	V>F		No	ClinGen Ensembl
TCGA novel	89	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1474079465 CA395650920	91	K>R		No	ClinGen TOPMed gnomAD
rs754812628 CA8018411	98	S>R		No	ClinGen ExAC gnomAD
CA8018412 rs781210585	98	S>T		No	ClinGen ExAC TOPMed gnomAD
CA395649759 rs1292311581	104	G>R		No	ClinGen gnomAD
CA395649732 rs1355293068	105	L>P		No	ClinGen gnomAD
rs750648693 CA8018408	106	N>S		No	ClinGen ExAC gnomAD
rs750648693 CA8018407	106	N>T		No	ClinGen ExAC gnomAD
rs3186882 CA8018406	107	R>L		No	ClinGen ESP ExAC gnomAD
rs762294692 CA8018405	108	S>C		No	ClinGen ExAC gnomAD
rs776806230 CA8018404	109	S>A		No	ClinGen ExAC gnomAD
rs1390065721 CA395649643	110	A>T		No	ClinGen gnomAD
CA395649635 rs1212331365	110	A>V		No	ClinGen TOPMed
CA8018403 rs764669888	112	L>M		No	ClinGen ExAC gnomAD
CA395649596 rs1403968703	113	R>S		No	ClinGen gnomAD
CA280570767 rs868539367	115	R>H		No	ClinGen Ensembl
rs1596716934 CA395649386	119	H>P		No	ClinGen Ensembl
rs761364044 CA8018378	120	S>A		No	ClinGen ExAC gnomAD
CA395649368 rs761364044	120	S>P		No	ClinGen ExAC gnomAD
rs1596716924 CA395649349	121	T>P		No	ClinGen Ensembl
rs1596716915 CA395649326	122	L>P		No	ClinGen Ensembl
rs1596716908 CA395649280	126	F>V		No	ClinGen Ensembl
CA395649232 rs1471564338	128	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA395649215 rs1596716900	129	V>G		No	ClinGen Ensembl
rs1182597808 CA395649084	137	Q>E		No	ClinGen gnomAD
TCGA novel	144	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1441841484 CA395648948	147	R>Q		No	ClinGen gnomAD
rs368752095 CA280570433	149	Q>R		No	ClinGen ESP TOPMed gnomAD
CA395648790 rs1381181832	158	T>P		No	ClinGen TOPMed gnomAD
CA8018344 rs755533896	161	N>S		No	ClinGen ExAC gnomAD
CA395648765 rs1447664643	162	E>K		No	ClinGen gnomAD
TCGA novel	168	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752036715 CA8018343	170	S>G		No	ClinGen ExAC gnomAD
CA395648680 rs1221269956	174	A>P		No	ClinGen gnomAD
CA395648673 rs1317136108	175	I>V		No	ClinGen TOPMed
TCGA novel	175	I>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395647575 rs1168594178	182	M>T		No	ClinGen gnomAD
TCGA novel	183	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395647547 rs1376431740	184	S>L		No	ClinGen gnomAD
CA8018318 rs758876440	184	S>T		No	ClinGen ExAC gnomAD
rs1596714750 RCV001008973	185	Q>missing		No	ClinVar dbSNP
rs753358277 CA8018317	187	T>M		No	ClinGen ExAC gnomAD
TCGA novel	188	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8018315 rs369310107	190	A>V		No	ClinGen ESP ExAC gnomAD
TCGA novel	200	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	202	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	205	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395647290 rs1596714716	206	T>P		No	ClinGen Ensembl
CA395647263 rs1366750478	208	I>F		No	ClinGen TOPMed
TCGA novel	208	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1224119510 CA395647248	209	R>C		No	ClinGen gnomAD
COSM970061 rs1325555084 CA395647246	209	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA395647196 rs1335432721	213	D>E		No	ClinGen gnomAD
TCGA novel	219	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8018306 rs748405586	220	M>I		No	ClinGen ExAC gnomAD
CA395647113 rs1567376776	220	M>V		No	ClinGen Ensembl
rs768936456 CA8018286	228	M>L		No	ClinGen ExAC gnomAD
TCGA novel	230	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs945862120 CA280568546	233	E>D		No	ClinGen TOPMed
CA8018281 rs779497697	236	V>M		No	ClinGen ExAC gnomAD
rs771509690 RCV001171911	238	H>N		No	ClinVar dbSNP
rs1567376724 CA395646869 RCV000761934	238	H>R		No	ClinGen ClinVar Ensembl dbSNP
CA8018280 rs771509690	238	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	239	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395646865 RCV000519620 rs1555493906	239	S>P		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	239	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1207817430 CA395646859	240	V>M		No	ClinGen gnomAD
TCGA novel	241	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	241	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1161941498 CA395646830	244	E>Q		No	ClinGen TOPMed
rs780843272 CA8018278	245	R>G		No	ClinGen ExAC
CA395646817 RCV000709919 rs1567376699	246	A>P		No	ClinGen ClinVar Ensembl dbSNP
rs1453827661 CA395646813	246	A>V		No	ClinGen gnomAD
rs754735275 CA8018277	249	D>E		No	ClinGen ExAC gnomAD
CA16607299 rs1057524236 RCV000435289	252	K>I		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	254	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395646693 rs1171627260	255	K>E		No	ClinGen TOPMed
TCGA novel	255	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1373313233 CA395646643	257	Q>R		No	ClinGen TOPMed
CA395646593 rs1430696202	259	K>N		No	ClinGen gnomAD
rs1596714519 CA395646589	260	A>T		No	ClinGen Ensembl
TCGA novel	263	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395646138 rs1201825490	266	M>I		No	ClinGen gnomAD
rs542183574 CA8018232	266	M>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1264252912 CA395646111	268	I>V		No	ClinGen TOPMed gnomAD
CA8018230 rs530737248	269	I>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1281946355 CA395645900	279	A>V		No	ClinGen TOPMed gnomAD
CA8018223 rs766668216	282	I>L		No	ClinGen ExAC gnomAD
rs773649592 CA280568110	283	G>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	284	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762705451	285	T>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1410373910 CA395645798	285	T>M		No	ClinGen gnomAD

1 associated diseases with P61266

[MIM: 616172]: Generalized epilepsy with febrile seizures plus 9 (GEFSP9)

An autosomal dominant neurologic disorder characterized by febrile and/or afebrile seizures manifesting in early childhood. Seizure are variable and include generalized tonic-clonic, atonic, myoclonic, complex partial, and absence types. Most patients have remission of seizures later in childhood with no residual neurologic deficits. Rarely, patients may show mild developmental delay or mild intellectual disabilities. {ECO:0000269|PubMed:25362483}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal dominant neurologic disorder characterized by febrile and/or afebrile seizures manifesting in early childhood. Seizure are variable and include generalized tonic-clonic, atonic, myoclonic, complex partial, and absence types. Most patients have remission of seizures later in childhood with no residual neurologic deficits. Rarely, patients may show mild developmental delay or mild intellectual disabilities. {ECO:0000269|PubMed:25362483}. Note=The disease is caused by variants affecting the gene represented in this entry.

No regional properties for P61266

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for P61266

Functions

		Description
EC Number
Subcellular Localization	[Isoform 1]: Membrane ; Single-pass type IV membrane protein ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

17 GO annotations of cellular component

Name	Definition
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.
centrosome	A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle.
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.
endomembrane system	A collection of membranous structures involved in transport within the cell. The main components of the endomembrane system are endoplasmic reticulum, Golgi bodies, vesicles, cell membrane and nuclear envelope. Members of the endomembrane system pass materials through each other or though the use of vesicles.
integral component of membrane	The component of a 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.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
microtubule organizing center	An intracellular structure that can catalyze gamma-tubulin-dependent microtubule nucleation and that can anchor microtubules by interacting with their minus ends, plus ends or sides.
neuromuscular junction	The junction between the axon of a motor neuron and a muscle fiber. In response to the arrival of action potentials, the presynaptic button releases molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane of the muscle fiber, leading to a change in post-synaptic potential.
nuclear lamina	The fibrous, electron-dense layer lying on the nucleoplasmic side of the inner membrane of a cell nucleus, composed of lamin filaments. The polypeptides of the lamina are thought to be concerned in the dissolution of the nuclear envelope and its re-formation during mitosis. The lamina is composed of lamin A and lamin C filaments cross-linked into an orthogonal lattice, which is attached via lamin B to the inner nuclear membrane through interactions with a lamin B receptor, an IFAP, in the membrane.
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.
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.
SNARE complex	A protein complex involved in membrane fusion; a stable ternary complex consisting of a four-helix bundle, usually formed from one R-SNARE and three Q-SNAREs with an ionic layer sandwiched between hydrophobic layers. One well-characterized example is the neuronal SNARE complex formed of synaptobrevin 2, syntaxin 1a, and SNAP-25.
spindle	The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart.
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.

4 GO annotations of molecular function

Name	Definition
protein kinase binding	Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
signaling receptor binding	Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.
SNAP receptor activity	Acting as a marker to identify a membrane and interacting selectively with one or more SNAREs on another membrane to mediate membrane fusion.
SNARE binding	Binding to a SNARE (soluble N-ethylmaleimide-sensitive factor attached protein receptor) protein.

20 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.
exocytic insertion of neurotransmitter receptor to postsynaptic membrane	The exocytic fusion of neurotransmitter receptor containing vesicles with the postsynaptic membrane resulting in the integration of NT receptors, enabling them to participate in neurotransmitter reception. This process includes tethering and docking steps that prepare vesicles for fusion.
exocytosis	A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell.
intracellular protein transport	The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell.
negative regulation of macropinocytosis	Any process that stops, prevents or reduces the frequency, rate or extent of macropinocytosis.
negative regulation of neuron projection development	Any process that decreases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).
negative regulation of synaptic vesicle recycling	Any process that stops, prevents or reduces the frequency, rate or extent of synaptic vesicle recycling.
positive regulation of excitatory postsynaptic potential	Any process that enhances the establishment or increases the extent of the excitatory postsynaptic potential (EPSP) which is a temporary increase in postsynaptic potential due to the flow of positively charged ions into the postsynaptic cell. The flow of ions that causes an EPSP is an excitatory postsynaptic current (EPSC) and makes it easier for the neuron to fire an action potential.
positive regulation of neurotransmitter secretion	Any process that activates or increases the frequency, rate or extent of the regulated release of a neurotransmitter.
positive regulation of spontaneous neurotransmitter secretion	Any process that activates or increases the frequency, rate or extent of spontaneous neurotransmitter secretion.
regulation of exocytosis	Any process that modulates the frequency, rate or extent of exocytosis.
regulation of gene expression	Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
regulation of synaptic activity	Any process that modulates the frequency, rate or extent of synaptic activity, the controlled release of neurotransmitters into the synaptic cleft and their subsequent detection by a postsynaptic cell.
regulation of synaptic vesicle priming	Any process that modulates the frequency, rate or extent of synaptic vesicle priming. Synaptic vesicle priming is the formation of SNARE-containing complexes, bringing synaptic vesicle membrane and plasma membranes into close proximity and thereby facilitating membrane fusion.
spontaneous neurotransmitter secretion	Neurotransmitter secretion that occurs in the absence of the action of a secretagogue or a presynaptic action potential.
synaptic vesicle docking	The initial (indirect) attachment of a synaptic vesicle membrane to the presynaptic active zone membrane, mediated by proteins protruding from the membrane and proteins of the presynaptic active zone cytoplasmic component. Synaptic vesicle tethering is the first step in this process.
synaptic vesicle fusion to presynaptic active zone membrane	Fusion of the membrane of a synaptic vesicle with the presynaptic active zone membrane, thereby releasing its cargo neurotransmitters into the synaptic cleft.
vesicle docking	The initial attachment of a transport vesicle membrane to the target membrane, mediated by proteins protruding from the membrane of the vesicle and the target membrane. Docking requires only that the two membranes come close enough for these proteins to interact and adhere.
vesicle docking involved in exocytosis	The initial attachment of a vesicle membrane to a target membrane, mediated by proteins protruding from the membrane of the vesicle and the target membrane, that contributes to exocytosis.
vesicle fusion	Fusion of the membrane of a transport vesicle with its target membrane.

21 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P32867	SSO1	Protein SSO1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
P39926	SSO2	Protein SSO2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q3SWZ3	STX4	Syntaxin-4	Bos taurus (Bovine)	PR
P61267	STX1B	Syntaxin-1B	Bos taurus (Bovine)	PR
Q7KVY7	Syx4	Syntaxin-4	Drosophila melanogaster (Fruit fly)	PR
Q24547	Syx1A	Syntaxin-1A	Drosophila melanogaster (Fruit fly)	PR
Q12846	STX4	Syntaxin-4	Homo sapiens (Human)	PR
O75558	STX11	Syntaxin-11	Homo sapiens (Human)	PR
Q16623	STX1A	Syntaxin-1A	Homo sapiens (Human)	PR
O15400	STX7	Syntaxin-7	Homo sapiens (Human)	PR
O35526	Stx1a	Syntaxin-1A	Mus musculus (Mouse)	PR
Q00262	Stx2	Syntaxin-2	Mus musculus (Mouse)	PR
P70452	Stx4	Syntaxin-4	Mus musculus (Mouse)	PR
Q9D3G5	Stx11	Syntaxin-11	Mus musculus (Mouse)	PR
P61264	Stx1b	Syntaxin-1B	Mus musculus (Mouse)	PR
P50279	Stx2	Syntaxin-2	Rattus norvegicus (Rat)	PR
Q08850	Stx4	Syntaxin-4	Rattus norvegicus (Rat)	PR
P32851	Stx1a	Syntaxin-1A	Rattus norvegicus (Rat)	PR
P61265	Stx1b	Syntaxin-1B	Rattus norvegicus (Rat)	PR
O16000	unc-64	Syntaxin-1A homolog	Caenorhabditis elegans	PR
Q9ZPV9	SYP112	Syntaxin-112	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MKDRTQELRS	AKDSDDEEEV	VHVDRDHFMD	EFFEQVEEIR	GCIEKLSEDV	EQVKKQHSAI
70	80	90	100	110	120
LAAPNPDEKT	KQELEDLTAD	IKKTANKVRS	KLKAIEQSIE	QEEGLNRSSA	DLRIRKTQHS
130	140	150	160	170	180
TLSRKFVEVM	TEYNATQSKY	RDRCKDRIQR	QLEITGRTTT	NEELEDMLES	GKLAIFTDDI
190	200	210	220	230	240
KMDSQMTKQA	LNEIETRHNE	IIKLETSIRE	LHDMFVDMAM	LVESQGEMID	RIEYNVEHSV
250	260	270	280
DYVERAVSDT	KKAVKYQSKA	RRKKIMIIIC	CVVLGVVLAS	SIGGTLGL