Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6812
Gene name Gene Name - the full gene name approved by the HGNC.	Syntaxin binding protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	STXBP1
Synonyms (NCBI Gene) Gene synonyms aliases	DEE4, MUNC18-1, N-Sec1, NSEC1, P67, RBSEC1, UNC18, unc-18A, unc18-1
Chromosome Chromosome number	9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	9q34.11
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile ep

Show/Hide all(148)

SNP ID	Visualize variation	Clinical significance	Consequence
rs34830702	G>A	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, coding sequence variant
rs112111568	A>G,T	Pathogenic	Splice acceptor variant
rs121918317	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs121918318	G>A	Pathogenic	Coding sequence variant, missense variant
rs121918319	T>G	Pathogenic	Coding sequence variant, missense variant
rs121918320	T>A	Pathogenic	Coding sequence variant, missense variant
rs121918321	C>T	Pathogenic	Coding sequence variant, stop gained
rs147607230	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, intron variant
rs370249358	C>T	Benign-likely-benign, likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs398123695	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs587776641	G>A	Pathogenic	Splice donor variant
rs587777310	G>A	Pathogenic	Missense variant, coding sequence variant, intron variant
rs587784453	A>G	Uncertain-significance, likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs587784454	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs587784455	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs727504173	G>C,T	Pathogenic	Splice donor variant
rs746172968	G>A	Pathogenic	Missense variant, coding sequence variant, intron variant
rs748965227	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs751170778	T>C,G	Pathogenic, likely-benign	Coding sequence variant, stop gained, synonymous variant, intron variant
rs767199598	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs777499631	C>A	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Synonymous variant, coding sequence variant
rs786205598	C>T	Uncertain-significance, not-provided, pathogenic	Coding sequence variant, missense variant, intron variant
rs794727792	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs794727970	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs796053350	G>A	Pathogenic-likely-pathogenic	Splice donor variant
rs796053351	A>C,G	Pathogenic	Splice acceptor variant
rs796053353	C>T	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs796053354	G>A,T	Pathogenic	Splice acceptor variant
rs796053356	G>A	Uncertain-significance, likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs796053357	G>A,T	Pathogenic	Splice donor variant
rs796053359	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, stop gained
rs796053361	G>A,T	Pathogenic	Coding sequence variant, missense variant, intron variant
rs796053362	G>T	Pathogenic	Coding sequence variant, stop gained
rs796053364	G>T	Pathogenic	Splice acceptor variant
rs796053365	G>A	Pathogenic	Coding sequence variant, missense variant
rs796053366	C>T	Pathogenic	Coding sequence variant, stop gained
rs796053367	C>G,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs796053368	C>T	Pathogenic	Coding sequence variant, missense variant
rs796053370	G>A,T	Pathogenic	Splice donor variant
rs796053373	C>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs796053374	G>A,C,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs796053376	C>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs796053377	G>A	Pathogenic	Splice donor variant
rs796053379	A>T	Likely-pathogenic	Intron variant
rs796053380	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs796053382	->G	Pathogenic	Coding sequence variant, splice donor variant
rs796053383	GT>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs796053384	->TCGTCCC	Pathogenic	Coding sequence variant, frameshift variant
rs796053385	->A	Pathogenic	Coding sequence variant, frameshift variant
rs796053386	CAT>-	Pathogenic	Coding sequence variant, inframe deletion
rs796053390	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs796053391	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs796053392	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs886039435	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs886041246	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs886041337	T>C	Pathogenic	Coding sequence variant, missense variant
rs886041668	T>C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs886041917	->A	Pathogenic	Coding sequence variant, frameshift variant
rs886041978	G>A,C	Pathogenic	Splice donor variant, intron variant
rs886042031	T>CAACAATGATG	Pathogenic	Coding sequence variant, inframe indel, stop gained
rs886044141	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057517856	C>T	Pathogenic	Coding sequence variant, stop gained
rs1057517880	C>T	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs1057518123	G>A,T	Likely-pathogenic, likely-benign	Coding sequence variant, missense variant
rs1057518154	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057518167	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1057518331	AG>-	Pathogenic	Coding sequence variant, splice donor variant, intron variant, 5 prime UTR variant
rs1057518985	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1057518989	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057519189	G>A,C	Pathogenic, uncertain-significance	Splice donor variant
rs1057519501	C>T	Pathogenic	Coding sequence variant, stop gained
rs1057519537	G>A	Pathogenic	Coding sequence variant, stop gained
rs1057519538	AAA>-	Pathogenic	Coding sequence variant, inframe indel
rs1057519539	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1057520544	G>A	Pathogenic	Coding sequence variant, stop gained
rs1057520631	G>A	Pathogenic	Intron variant
rs1057522982	A>G,T	Likely-pathogenic	Splice acceptor variant
rs1057523381	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1057524795	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1057524834	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1060501722	G>A,C	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs1060501723	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060501724	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1064793414	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064793984	G>A	Pathogenic	Coding sequence variant, stop gained
rs1064794322	G>A	Pathogenic	Coding sequence variant, intron variant, missense variant
rs1064795999	TTTGACC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064796720	C>T	Pathogenic	Coding sequence variant, stop gained
rs1064796989	T>A	Pathogenic	Coding sequence variant, stop gained
rs1085307465	G>T	Pathogenic	Splice donor variant
rs1085307900	T>G	Pathogenic	Coding sequence variant, stop gained
rs1085307916	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1085308022	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691742	A>G	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs1131691928	T>C	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs1316686443	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1461664423	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1554775960	T>C	Pathogenic	Splice donor variant
rs1554776674	A>G	Pathogenic	Splice acceptor variant
rs1554776842	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554776853	TG>-	Likely-pathogenic	Coding sequence variant, splice donor variant, intron variant
rs1554776948	G>T	Pathogenic, likely-pathogenic	Splice acceptor variant, intron variant
rs1554776954	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554777375	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1554777464	G>A,C	Pathogenic, likely-pathogenic	Splice acceptor variant
rs1554777470	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554777474	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1554777480	C>G	Pathogenic	Coding sequence variant, missense variant
rs1554777488	->TGC	Likely-pathogenic	Coding sequence variant, inframe insertion
rs1554777496	G>A	Pathogenic	Splice donor variant
rs1554777733	A>G	Likely-pathogenic	Intron variant
rs1554777919	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554778215	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554778227	G>A	Pathogenic	Coding sequence variant, synonymous variant
rs1554778417	A>G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs1554778420	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1554778509	T>C	Pathogenic	Splice donor variant
rs1554778657	AAGCCGGAGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554778676	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1554778928	TA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554778930	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554778941	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1564333757	->GCTGTTGTCGG	Pathogenic	Intron variant, frameshift variant, coding sequence variant, 5 prime UTR variant
rs1564346538	G>T	Pathogenic	Stop gained, coding sequence variant
rs1564349850	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1564351084	A>T	Pathogenic	Stop gained, coding sequence variant
rs1564351103	C>T	Pathogenic	Stop gained, coding sequence variant
rs1564351388	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1564352002	G>T	Pathogenic	Stop gained, intron variant, coding sequence variant
rs1564355614	C>A,G	Pathogenic	Stop gained, coding sequence variant
rs1564355642	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1564356269	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1564357089	T>A	Pathogenic	Stop gained, coding sequence variant
rs1588294498	->GGA	Pathogenic	Coding sequence variant, inframe insertion
rs1588302912	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1588306826	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1588306876	TGC>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1588306948	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1588313568	G>T	Pathogenic	Coding sequence variant, missense variant
rs1588317190	G>A	Pathogenic	Splice acceptor variant
rs1588324025	T>C	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs1588332693	GTCCCAG>TCAGCACC	Pathogenic	Coding sequence variant, frameshift variant
rs1588339504	TTTTC>G	Likely-pathogenic	Intron variant
rs1588339898	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1588341629	G>T	Pathogenic	Coding sequence variant, stop gained
rs1588346359	GCCGGA>C	Pathogenic	Coding sequence variant, frameshift variant
rs1588354779	GC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1588355023	C>AA	Pathogenic	Coding sequence variant, stop gained

Show/Hide all(452)

miRTarBase ID	miRNA	Experiments	Reference
MIRT050254	hsa-miR-25-3p	CLASH	23622248
MIRT046505	hsa-miR-15b-5p	CLASH	23622248
MIRT043952	hsa-miR-378a-3p	CLASH	23622248
MIRT439511	hsa-miR-544a	HITS-CLIP	24374217
MIRT439511	hsa-miR-544a	HITS-CLIP	24374217
MIRT1401348	hsa-miR-1182	CLIP-seq
MIRT1401349	hsa-miR-1185	CLIP-seq
MIRT1401350	hsa-miR-130a	CLIP-seq
MIRT1401351	hsa-miR-130b	CLIP-seq
MIRT1401352	hsa-miR-148a	CLIP-seq
MIRT1401353	hsa-miR-148b	CLIP-seq
MIRT1401354	hsa-miR-152	CLIP-seq
MIRT1401355	hsa-miR-2861	CLIP-seq
MIRT1401356	hsa-miR-301a	CLIP-seq
MIRT1401357	hsa-miR-301b	CLIP-seq
MIRT1401358	hsa-miR-3120-3p	CLIP-seq
MIRT1401359	hsa-miR-3136-5p	CLIP-seq
MIRT1401360	hsa-miR-3154	CLIP-seq
MIRT1401361	hsa-miR-3155	CLIP-seq
MIRT1401362	hsa-miR-3155b	CLIP-seq
MIRT1401363	hsa-miR-3175	CLIP-seq
MIRT1401364	hsa-miR-329	CLIP-seq
MIRT1401365	hsa-miR-330-3p	CLIP-seq
MIRT1401366	hsa-miR-345	CLIP-seq
MIRT1401367	hsa-miR-34c-3p	CLIP-seq
MIRT1401368	hsa-miR-3605-5p	CLIP-seq
MIRT1401369	hsa-miR-3616-3p	CLIP-seq
MIRT1401370	hsa-miR-362-3p	CLIP-seq
MIRT1401371	hsa-miR-3666	CLIP-seq
MIRT1401372	hsa-miR-3679-5p	CLIP-seq
MIRT1401373	hsa-miR-374c	CLIP-seq
MIRT1401374	hsa-miR-3913-3p	CLIP-seq
MIRT1401375	hsa-miR-3941	CLIP-seq
MIRT1401376	hsa-miR-4295	CLIP-seq
MIRT1401377	hsa-miR-4305	CLIP-seq
MIRT1401378	hsa-miR-4327	CLIP-seq
MIRT1401379	hsa-miR-4420	CLIP-seq
MIRT1401380	hsa-miR-4438	CLIP-seq
MIRT1401381	hsa-miR-4439	CLIP-seq
MIRT1401382	hsa-miR-4512	CLIP-seq
MIRT1401383	hsa-miR-4513	CLIP-seq
MIRT1401384	hsa-miR-454	CLIP-seq
MIRT1401385	hsa-miR-4640-5p	CLIP-seq
MIRT1401386	hsa-miR-4643	CLIP-seq
MIRT1401387	hsa-miR-4699-5p	CLIP-seq
MIRT1401388	hsa-miR-4708-3p	CLIP-seq
MIRT1401389	hsa-miR-4717-3p	CLIP-seq
MIRT1401390	hsa-miR-4724-5p	CLIP-seq
MIRT1401391	hsa-miR-4726-5p	CLIP-seq
MIRT1401392	hsa-miR-4738-3p	CLIP-seq
MIRT1401393	hsa-miR-4761-3p	CLIP-seq
MIRT1401394	hsa-miR-484	CLIP-seq
MIRT1401395	hsa-miR-499-3p	CLIP-seq
MIRT1401396	hsa-miR-499a-3p	CLIP-seq
MIRT1401397	hsa-miR-548b-3p	CLIP-seq
MIRT1401398	hsa-miR-603	CLIP-seq
MIRT1401399	hsa-miR-607	CLIP-seq
MIRT1401400	hsa-miR-655	CLIP-seq
MIRT1401401	hsa-miR-661	CLIP-seq
MIRT1401349	hsa-miR-1185	CLIP-seq
MIRT2120354	hsa-miR-134	CLIP-seq
MIRT2120355	hsa-miR-2113	CLIP-seq
MIRT2120356	hsa-miR-2392	CLIP-seq
MIRT1401355	hsa-miR-2861	CLIP-seq
MIRT2120357	hsa-miR-3074-5p	CLIP-seq
MIRT2120358	hsa-miR-3118	CLIP-seq
MIRT1401360	hsa-miR-3154	CLIP-seq
MIRT1401361	hsa-miR-3155	CLIP-seq
MIRT1401362	hsa-miR-3155b	CLIP-seq
MIRT2120359	hsa-miR-3164	CLIP-seq
MIRT1401368	hsa-miR-3605-5p	CLIP-seq
MIRT2120360	hsa-miR-3614-3p	CLIP-seq
MIRT2120361	hsa-miR-3667-3p	CLIP-seq
MIRT1401372	hsa-miR-3679-5p	CLIP-seq
MIRT2120362	hsa-miR-4297	CLIP-seq
MIRT1401380	hsa-miR-4438	CLIP-seq
MIRT1401382	hsa-miR-4512	CLIP-seq
MIRT1401385	hsa-miR-4640-5p	CLIP-seq
MIRT1401391	hsa-miR-4726-5p	CLIP-seq
MIRT2120363	hsa-miR-4793-3p	CLIP-seq
MIRT1401394	hsa-miR-484	CLIP-seq
MIRT1401399	hsa-miR-607	CLIP-seq
MIRT2120364	hsa-miR-617	CLIP-seq
MIRT2120365	hsa-miR-624	CLIP-seq
MIRT2120366	hsa-miR-658	CLIP-seq
MIRT1401401	hsa-miR-661	CLIP-seq
MIRT2120367	hsa-miR-765	CLIP-seq
MIRT2342406	hsa-miR-1253	CLIP-seq
MIRT2342407	hsa-miR-3145-5p	CLIP-seq
MIRT2342408	hsa-miR-3150a-3p	CLIP-seq
MIRT1401363	hsa-miR-3175	CLIP-seq
MIRT1401365	hsa-miR-330-3p	CLIP-seq
MIRT2342409	hsa-miR-3591-3p	CLIP-seq
MIRT1401369	hsa-miR-3616-3p	CLIP-seq
MIRT2342410	hsa-miR-3925-5p	CLIP-seq
MIRT1401379	hsa-miR-4420	CLIP-seq
MIRT1401380	hsa-miR-4438	CLIP-seq
MIRT2342411	hsa-miR-4457	CLIP-seq
MIRT2342412	hsa-miR-4492	CLIP-seq
MIRT2342413	hsa-miR-4498	CLIP-seq
MIRT2342414	hsa-miR-4505	CLIP-seq
MIRT2342415	hsa-miR-4667-5p	CLIP-seq
MIRT2342416	hsa-miR-4678	CLIP-seq
MIRT2342417	hsa-miR-4700-5p	CLIP-seq
MIRT2342418	hsa-miR-4709-5p	CLIP-seq
MIRT1401390	hsa-miR-4724-5p	CLIP-seq
MIRT2342419	hsa-miR-4728-5p	CLIP-seq
MIRT2342420	hsa-miR-4731-3p	CLIP-seq
MIRT2342421	hsa-miR-4731-5p	CLIP-seq
MIRT1401393	hsa-miR-4761-3p	CLIP-seq
MIRT2342422	hsa-miR-4801	CLIP-seq
MIRT2342423	hsa-miR-508-5p	CLIP-seq
MIRT2342424	hsa-miR-580	CLIP-seq
MIRT1401399	hsa-miR-607	CLIP-seq
MIRT2120365	hsa-miR-624	CLIP-seq
MIRT2342425	hsa-miR-762	CLIP-seq
MIRT2342426	hsa-miR-939	CLIP-seq
MIRT2395401	hsa-miR-3200-5p	CLIP-seq
MIRT2395402	hsa-miR-4766-5p	CLIP-seq
MIRT2460776	hsa-miR-3138	CLIP-seq
MIRT2460777	hsa-miR-4318	CLIP-seq
MIRT2460778	hsa-miR-4800-5p	CLIP-seq
MIRT2636147	hsa-miR-1	CLIP-seq
MIRT2636148	hsa-miR-103b	CLIP-seq
MIRT2636149	hsa-miR-1178	CLIP-seq
MIRT1401348	hsa-miR-1182	CLIP-seq
MIRT1401349	hsa-miR-1185	CLIP-seq
MIRT2636150	hsa-miR-1208	CLIP-seq
MIRT2636151	hsa-miR-1224-5p	CLIP-seq
MIRT2636152	hsa-miR-1254	CLIP-seq
MIRT2636153	hsa-miR-1255a	CLIP-seq
MIRT2636154	hsa-miR-1255b	CLIP-seq
MIRT2636155	hsa-miR-1273d	CLIP-seq
MIRT2636156	hsa-miR-1273f	CLIP-seq
MIRT2636157	hsa-miR-129-3p	CLIP-seq
MIRT2636158	hsa-miR-1303	CLIP-seq
MIRT2636159	hsa-miR-1322	CLIP-seq
MIRT2636160	hsa-miR-139-3p	CLIP-seq
MIRT2636161	hsa-miR-151-3p	CLIP-seq
MIRT2636162	hsa-miR-154	CLIP-seq
MIRT2636163	hsa-miR-15a	CLIP-seq
MIRT2636164	hsa-miR-15b	CLIP-seq
MIRT2636165	hsa-miR-16	CLIP-seq
MIRT2636166	hsa-miR-1915	CLIP-seq
MIRT2636167	hsa-miR-195	CLIP-seq
MIRT2636168	hsa-miR-197	CLIP-seq
MIRT2636169	hsa-miR-206	CLIP-seq
MIRT2636170	hsa-miR-2115	CLIP-seq
MIRT2636171	hsa-miR-2278	CLIP-seq
MIRT2120356	hsa-miR-2392	CLIP-seq
MIRT1401355	hsa-miR-2861	CLIP-seq
MIRT2636172	hsa-miR-3065-5p	CLIP-seq
MIRT2120357	hsa-miR-3074-5p	CLIP-seq
MIRT2636173	hsa-miR-30a	CLIP-seq
MIRT2636174	hsa-miR-30b	CLIP-seq
MIRT2636175	hsa-miR-30c	CLIP-seq
MIRT2636176	hsa-miR-30d	CLIP-seq
MIRT2636177	hsa-miR-30e	CLIP-seq
MIRT2636178	hsa-miR-3116	CLIP-seq
MIRT2636179	hsa-miR-3127-5p	CLIP-seq
MIRT1401359	hsa-miR-3136-5p	CLIP-seq
MIRT2460776	hsa-miR-3138	CLIP-seq
MIRT2636180	hsa-miR-3144-5p	CLIP-seq
MIRT2342407	hsa-miR-3145-5p	CLIP-seq
MIRT2636181	hsa-miR-3147	CLIP-seq
MIRT2342408	hsa-miR-3150a-3p	CLIP-seq
MIRT1401360	hsa-miR-3154	CLIP-seq
MIRT1401361	hsa-miR-3155	CLIP-seq
MIRT1401362	hsa-miR-3155b	CLIP-seq
MIRT2636182	hsa-miR-3160-3p	CLIP-seq
MIRT2636183	hsa-miR-3161	CLIP-seq
MIRT2636184	hsa-miR-3166	CLIP-seq
MIRT1401363	hsa-miR-3175	CLIP-seq
MIRT2636185	hsa-miR-3176	CLIP-seq
MIRT2636186	hsa-miR-3184	CLIP-seq
MIRT2636187	hsa-miR-3188	CLIP-seq
MIRT2636188	hsa-miR-3191	CLIP-seq
MIRT2636189	hsa-miR-3199	CLIP-seq
MIRT1401366	hsa-miR-345	CLIP-seq
MIRT2636190	hsa-miR-34a	CLIP-seq
MIRT2636191	hsa-miR-34c-5p	CLIP-seq
MIRT1401368	hsa-miR-3605-5p	CLIP-seq
MIRT2636192	hsa-miR-3612	CLIP-seq
MIRT2120360	hsa-miR-3614-3p	CLIP-seq
MIRT2636193	hsa-miR-362-5p	CLIP-seq
MIRT2636194	hsa-miR-3650	CLIP-seq
MIRT2636195	hsa-miR-3651	CLIP-seq
MIRT2636196	hsa-miR-3662	CLIP-seq
MIRT2120361	hsa-miR-3667-3p	CLIP-seq
MIRT2636197	hsa-miR-3673	CLIP-seq
MIRT2636198	hsa-miR-3675-3p	CLIP-seq
MIRT1401372	hsa-miR-3679-5p	CLIP-seq
MIRT2636199	hsa-miR-3915	CLIP-seq
MIRT2636200	hsa-miR-3922-3p	CLIP-seq
MIRT2636201	hsa-miR-423-5p	CLIP-seq
MIRT2636202	hsa-miR-424	CLIP-seq
MIRT2636203	hsa-miR-4269	CLIP-seq
MIRT2120362	hsa-miR-4297	CLIP-seq
MIRT2636204	hsa-miR-4302	CLIP-seq
MIRT2636205	hsa-miR-4311	CLIP-seq
MIRT2460777	hsa-miR-4318	CLIP-seq
MIRT1401378	hsa-miR-4327	CLIP-seq
MIRT2636206	hsa-miR-4425	CLIP-seq
MIRT2636207	hsa-miR-4434	CLIP-seq
MIRT2636208	hsa-miR-4436b-5p	CLIP-seq
MIRT1401380	hsa-miR-4438	CLIP-seq
MIRT1401381	hsa-miR-4439	CLIP-seq
MIRT2636209	hsa-miR-4443	CLIP-seq
MIRT2636210	hsa-miR-4463	CLIP-seq
MIRT2636211	hsa-miR-4477b	CLIP-seq
MIRT2636212	hsa-miR-4487	CLIP-seq
MIRT2636213	hsa-miR-4499	CLIP-seq
MIRT2636214	hsa-miR-449a	CLIP-seq
MIRT2636215	hsa-miR-449b	CLIP-seq
MIRT2342414	hsa-miR-4505	CLIP-seq
MIRT2636216	hsa-miR-450b-3p	CLIP-seq
MIRT1401382	hsa-miR-4512	CLIP-seq
MIRT1401383	hsa-miR-4513	CLIP-seq
MIRT2636217	hsa-miR-4515	CLIP-seq
MIRT2636218	hsa-miR-4516	CLIP-seq
MIRT2636219	hsa-miR-452	CLIP-seq
MIRT2636220	hsa-miR-4531	CLIP-seq
MIRT2636221	hsa-miR-4534	CLIP-seq
MIRT2636222	hsa-miR-4540	CLIP-seq
MIRT2636223	hsa-miR-4637	CLIP-seq
MIRT1401385	hsa-miR-4640-5p	CLIP-seq
MIRT2636224	hsa-miR-4652-5p	CLIP-seq
MIRT2636225	hsa-miR-4655-3p	CLIP-seq
MIRT2636226	hsa-miR-4655-5p	CLIP-seq
MIRT2636227	hsa-miR-4661-5p	CLIP-seq
MIRT2636228	hsa-miR-4662a-3p	CLIP-seq
MIRT2636229	hsa-miR-4663	CLIP-seq
MIRT2342415	hsa-miR-4667-5p	CLIP-seq
MIRT2636230	hsa-miR-4668-5p	CLIP-seq
MIRT2636231	hsa-miR-4676-3p	CLIP-seq
MIRT2636232	hsa-miR-4687-5p	CLIP-seq
MIRT2636233	hsa-miR-4689	CLIP-seq
MIRT2636234	hsa-miR-4690-5p	CLIP-seq
MIRT1401387	hsa-miR-4699-5p	CLIP-seq
MIRT2342417	hsa-miR-4700-5p	CLIP-seq
MIRT2636235	hsa-miR-4712-3p	CLIP-seq
MIRT2636236	hsa-miR-4719	CLIP-seq
MIRT2636237	hsa-miR-4725-5p	CLIP-seq
MIRT2636238	hsa-miR-4726-3p	CLIP-seq
MIRT1401391	hsa-miR-4726-5p	CLIP-seq
MIRT2342419	hsa-miR-4728-5p	CLIP-seq
MIRT2342421	hsa-miR-4731-5p	CLIP-seq
MIRT1401392	hsa-miR-4738-3p	CLIP-seq
MIRT2636239	hsa-miR-4738-5p	CLIP-seq
MIRT2636240	hsa-miR-4762-3p	CLIP-seq
MIRT2636241	hsa-miR-4771	CLIP-seq
MIRT2636242	hsa-miR-4775	CLIP-seq
MIRT2636243	hsa-miR-4780	CLIP-seq
MIRT2636244	hsa-miR-4787-5p	CLIP-seq
MIRT2120363	hsa-miR-4793-3p	CLIP-seq
MIRT2636245	hsa-miR-4795-3p	CLIP-seq
MIRT2460778	hsa-miR-4800-5p	CLIP-seq
MIRT2636246	hsa-miR-4802-5p	CLIP-seq
MIRT1401394	hsa-miR-484	CLIP-seq
MIRT2636247	hsa-miR-486-3p	CLIP-seq
MIRT2636248	hsa-miR-497	CLIP-seq
MIRT2636249	hsa-miR-498	CLIP-seq
MIRT2636250	hsa-miR-500b	CLIP-seq
MIRT2636251	hsa-miR-501-5p	CLIP-seq
MIRT2636252	hsa-miR-504	CLIP-seq
MIRT2342423	hsa-miR-508-5p	CLIP-seq
MIRT2636253	hsa-miR-513c	CLIP-seq
MIRT2636254	hsa-miR-514b-5p	CLIP-seq
MIRT2636255	hsa-miR-515-5p	CLIP-seq
MIRT2636256	hsa-miR-517a	CLIP-seq
MIRT2636257	hsa-miR-517b	CLIP-seq
MIRT2636258	hsa-miR-517c	CLIP-seq
MIRT2636259	hsa-miR-522	CLIP-seq
MIRT2636260	hsa-miR-526b	CLIP-seq
MIRT2636261	hsa-miR-542-3p	CLIP-seq
MIRT2636262	hsa-miR-544	CLIP-seq
MIRT2636263	hsa-miR-548ag	CLIP-seq
MIRT2636264	hsa-miR-548ai	CLIP-seq
MIRT1401397	hsa-miR-548b-3p	CLIP-seq
MIRT2636265	hsa-miR-556-5p	CLIP-seq
MIRT2636266	hsa-miR-558	CLIP-seq
MIRT2636267	hsa-miR-590-3p	CLIP-seq
MIRT2636268	hsa-miR-610	CLIP-seq
MIRT2636269	hsa-miR-613	CLIP-seq
MIRT2120364	hsa-miR-617	CLIP-seq
MIRT2636270	hsa-miR-627	CLIP-seq
MIRT2636271	hsa-miR-642a	CLIP-seq
MIRT2636272	hsa-miR-650	CLIP-seq
MIRT1401401	hsa-miR-661	CLIP-seq
MIRT2120367	hsa-miR-765	CLIP-seq
MIRT2636273	hsa-miR-769-3p	CLIP-seq
MIRT2636274	hsa-miR-873	CLIP-seq
MIRT2636275	hsa-miR-887	CLIP-seq
MIRT2636276	hsa-miR-924	CLIP-seq
MIRT2342426	hsa-miR-939	CLIP-seq
MIRT2636277	hsa-miR-944	CLIP-seq
MIRT2636147	hsa-miR-1	CLIP-seq
MIRT2636148	hsa-miR-103b	CLIP-seq
MIRT2636149	hsa-miR-1178	CLIP-seq
MIRT1401348	hsa-miR-1182	CLIP-seq
MIRT1401349	hsa-miR-1185	CLIP-seq
MIRT2636150	hsa-miR-1208	CLIP-seq
MIRT2636151	hsa-miR-1224-5p	CLIP-seq
MIRT2636152	hsa-miR-1254	CLIP-seq
MIRT2636153	hsa-miR-1255a	CLIP-seq
MIRT2636154	hsa-miR-1255b	CLIP-seq
MIRT2636155	hsa-miR-1273d	CLIP-seq
MIRT2636157	hsa-miR-129-3p	CLIP-seq
MIRT2636159	hsa-miR-1322	CLIP-seq
MIRT2636161	hsa-miR-151-3p	CLIP-seq
MIRT2636162	hsa-miR-154	CLIP-seq
MIRT2636163	hsa-miR-15a	CLIP-seq
MIRT2636164	hsa-miR-15b	CLIP-seq
MIRT2636165	hsa-miR-16	CLIP-seq
MIRT2636166	hsa-miR-1915	CLIP-seq
MIRT2636167	hsa-miR-195	CLIP-seq
MIRT2636168	hsa-miR-197	CLIP-seq
MIRT2636169	hsa-miR-206	CLIP-seq
MIRT2636171	hsa-miR-2278	CLIP-seq
MIRT2120356	hsa-miR-2392	CLIP-seq
MIRT1401355	hsa-miR-2861	CLIP-seq
MIRT2120357	hsa-miR-3074-5p	CLIP-seq
MIRT2636173	hsa-miR-30a	CLIP-seq
MIRT2636174	hsa-miR-30b	CLIP-seq
MIRT2636175	hsa-miR-30c	CLIP-seq
MIRT2636176	hsa-miR-30d	CLIP-seq
MIRT2636177	hsa-miR-30e	CLIP-seq
MIRT2636178	hsa-miR-3116	CLIP-seq
MIRT2636179	hsa-miR-3127-5p	CLIP-seq
MIRT1401359	hsa-miR-3136-5p	CLIP-seq
MIRT2460776	hsa-miR-3138	CLIP-seq
MIRT2636180	hsa-miR-3144-5p	CLIP-seq
MIRT2342407	hsa-miR-3145-5p	CLIP-seq
MIRT2636181	hsa-miR-3147	CLIP-seq
MIRT2342408	hsa-miR-3150a-3p	CLIP-seq
MIRT1401360	hsa-miR-3154	CLIP-seq
MIRT1401361	hsa-miR-3155	CLIP-seq
MIRT1401362	hsa-miR-3155b	CLIP-seq
MIRT2636182	hsa-miR-3160-3p	CLIP-seq
MIRT2636183	hsa-miR-3161	CLIP-seq
MIRT2636184	hsa-miR-3166	CLIP-seq
MIRT1401363	hsa-miR-3175	CLIP-seq
MIRT2636185	hsa-miR-3176	CLIP-seq
MIRT2636186	hsa-miR-3184	CLIP-seq
MIRT2636188	hsa-miR-3191	CLIP-seq
MIRT2636189	hsa-miR-3199	CLIP-seq
MIRT1401366	hsa-miR-345	CLIP-seq
MIRT2636190	hsa-miR-34a	CLIP-seq
MIRT2636191	hsa-miR-34c-5p	CLIP-seq
MIRT1401368	hsa-miR-3605-5p	CLIP-seq
MIRT2120360	hsa-miR-3614-3p	CLIP-seq
MIRT2636193	hsa-miR-362-5p	CLIP-seq
MIRT2636194	hsa-miR-3650	CLIP-seq
MIRT2636195	hsa-miR-3651	CLIP-seq
MIRT2636196	hsa-miR-3662	CLIP-seq
MIRT2120361	hsa-miR-3667-3p	CLIP-seq
MIRT2636197	hsa-miR-3673	CLIP-seq
MIRT1401372	hsa-miR-3679-5p	CLIP-seq
MIRT2636199	hsa-miR-3915	CLIP-seq
MIRT2636200	hsa-miR-3922-3p	CLIP-seq
MIRT2636201	hsa-miR-423-5p	CLIP-seq
MIRT2636202	hsa-miR-424	CLIP-seq
MIRT2636203	hsa-miR-4269	CLIP-seq
MIRT2120362	hsa-miR-4297	CLIP-seq
MIRT2636204	hsa-miR-4302	CLIP-seq
MIRT2636205	hsa-miR-4311	CLIP-seq
MIRT2460777	hsa-miR-4318	CLIP-seq
MIRT1401378	hsa-miR-4327	CLIP-seq
MIRT2636206	hsa-miR-4425	CLIP-seq
MIRT2636207	hsa-miR-4434	CLIP-seq
MIRT2636208	hsa-miR-4436b-5p	CLIP-seq
MIRT1401380	hsa-miR-4438	CLIP-seq
MIRT1401381	hsa-miR-4439	CLIP-seq
MIRT2636210	hsa-miR-4463	CLIP-seq
MIRT2636211	hsa-miR-4477b	CLIP-seq
MIRT2636212	hsa-miR-4487	CLIP-seq
MIRT2636213	hsa-miR-4499	CLIP-seq
MIRT2636214	hsa-miR-449a	CLIP-seq
MIRT2636215	hsa-miR-449b	CLIP-seq
MIRT2342414	hsa-miR-4505	CLIP-seq
MIRT2636216	hsa-miR-450b-3p	CLIP-seq
MIRT1401382	hsa-miR-4512	CLIP-seq
MIRT1401383	hsa-miR-4513	CLIP-seq
MIRT2636217	hsa-miR-4515	CLIP-seq
MIRT2636218	hsa-miR-4516	CLIP-seq
MIRT2636219	hsa-miR-452	CLIP-seq
MIRT2636220	hsa-miR-4531	CLIP-seq
MIRT2636222	hsa-miR-4540	CLIP-seq
MIRT2636223	hsa-miR-4637	CLIP-seq
MIRT1401385	hsa-miR-4640-5p	CLIP-seq
MIRT2636224	hsa-miR-4652-5p	CLIP-seq
MIRT2636225	hsa-miR-4655-3p	CLIP-seq
MIRT2636226	hsa-miR-4655-5p	CLIP-seq
MIRT2636227	hsa-miR-4661-5p	CLIP-seq
MIRT2636228	hsa-miR-4662a-3p	CLIP-seq
MIRT2636229	hsa-miR-4663	CLIP-seq
MIRT2342415	hsa-miR-4667-5p	CLIP-seq
MIRT2636230	hsa-miR-4668-5p	CLIP-seq
MIRT2636231	hsa-miR-4676-3p	CLIP-seq
MIRT2636232	hsa-miR-4687-5p	CLIP-seq
MIRT2636233	hsa-miR-4689	CLIP-seq
MIRT2636234	hsa-miR-4690-5p	CLIP-seq
MIRT1401387	hsa-miR-4699-5p	CLIP-seq
MIRT2342417	hsa-miR-4700-5p	CLIP-seq
MIRT2636235	hsa-miR-4712-3p	CLIP-seq
MIRT2636236	hsa-miR-4719	CLIP-seq
MIRT2636237	hsa-miR-4725-5p	CLIP-seq
MIRT2636238	hsa-miR-4726-3p	CLIP-seq
MIRT1401391	hsa-miR-4726-5p	CLIP-seq
MIRT2342419	hsa-miR-4728-5p	CLIP-seq
MIRT2342421	hsa-miR-4731-5p	CLIP-seq
MIRT1401392	hsa-miR-4738-3p	CLIP-seq
MIRT2636240	hsa-miR-4762-3p	CLIP-seq
MIRT2636241	hsa-miR-4771	CLIP-seq
MIRT2636242	hsa-miR-4775	CLIP-seq
MIRT2636243	hsa-miR-4780	CLIP-seq
MIRT2636244	hsa-miR-4787-5p	CLIP-seq
MIRT2120363	hsa-miR-4793-3p	CLIP-seq
MIRT2636245	hsa-miR-4795-3p	CLIP-seq
MIRT2460778	hsa-miR-4800-5p	CLIP-seq
MIRT1401394	hsa-miR-484	CLIP-seq
MIRT2636247	hsa-miR-486-3p	CLIP-seq
MIRT2636248	hsa-miR-497	CLIP-seq
MIRT2636249	hsa-miR-498	CLIP-seq
MIRT2636250	hsa-miR-500b	CLIP-seq
MIRT2636251	hsa-miR-501-5p	CLIP-seq
MIRT2636252	hsa-miR-504	CLIP-seq
MIRT2342423	hsa-miR-508-5p	CLIP-seq
MIRT2636255	hsa-miR-515-5p	CLIP-seq
MIRT2636256	hsa-miR-517a	CLIP-seq
MIRT2636257	hsa-miR-517b	CLIP-seq
MIRT2636258	hsa-miR-517c	CLIP-seq
MIRT2636259	hsa-miR-522	CLIP-seq
MIRT2636260	hsa-miR-526b	CLIP-seq
MIRT2636261	hsa-miR-542-3p	CLIP-seq
MIRT2636263	hsa-miR-548ag	CLIP-seq
MIRT2636264	hsa-miR-548ai	CLIP-seq
MIRT1401397	hsa-miR-548b-3p	CLIP-seq
MIRT2636265	hsa-miR-556-5p	CLIP-seq
MIRT2636266	hsa-miR-558	CLIP-seq
MIRT2636267	hsa-miR-590-3p	CLIP-seq
MIRT2636269	hsa-miR-613	CLIP-seq
MIRT2120364	hsa-miR-617	CLIP-seq
MIRT2636270	hsa-miR-627	CLIP-seq
MIRT2636271	hsa-miR-642a	CLIP-seq
MIRT1401401	hsa-miR-661	CLIP-seq
MIRT2120367	hsa-miR-765	CLIP-seq
MIRT2636273	hsa-miR-769-3p	CLIP-seq
MIRT2636275	hsa-miR-887	CLIP-seq
MIRT2636276	hsa-miR-924	CLIP-seq
MIRT2342426	hsa-miR-939	CLIP-seq
MIRT2636277	hsa-miR-944	CLIP-seq

Show/Hide all(87)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000149	Function	SNARE binding	IEA
GO:0000149	Function	SNARE binding	ISS
GO:0002576	Process	Platelet degranulation	IMP	12773094
GO:0003006	Process	Developmental process involved in reproduction	IEA
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005515	Function	Protein binding	IPI	16049941, 17500595, 25416956, 25910212, 26635000, 32296183, 32814053, 33961781
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005739	Component	Mitochondrion	ISS
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	12773094
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0006886	Process	Intracellular protein transport	IBA
GO:0006887	Process	Exocytosis	IEA
GO:0006904	Process	Vesicle docking involved in exocytosis	IBA
GO:0006904	Process	Vesicle docking involved in exocytosis	IEA
GO:0006904	Process	Vesicle docking involved in exocytosis	ISS
GO:0007269	Process	Neurotransmitter secretion	IEA
GO:0007274	Process	Neuromuscular synaptic transmission	IEA
GO:0007412	Process	Axon target recognition	IEA
GO:0007412	Process	Axon target recognition	ISS
GO:0010807	Process	Regulation of synaptic vesicle priming	IEA
GO:0010807	Process	Regulation of synaptic vesicle priming	ISS
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016082	Process	Synaptic vesicle priming	IEA
GO:0016188	Process	Synaptic vesicle maturation	IEA
GO:0016188	Process	Synaptic vesicle maturation	ISS
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0017075	Function	Syntaxin-1 binding	IBA
GO:0017075	Function	Syntaxin-1 binding	IEA
GO:0017075	Function	Syntaxin-1 binding	IPI	12730201, 19748891
GO:0017075	Function	Syntaxin-1 binding	ISS
GO:0019901	Function	Protein kinase binding	IEA
GO:0019904	Function	Protein domain specific binding	IEA
GO:0019905	Function	Syntaxin binding	IEA
GO:0019905	Function	Syntaxin binding	IPI	12773094
GO:0030141	Component	Secretory granule	IBA
GO:0030141	Component	Secretory granule	IEA
GO:0030424	Component	Axon	IEA
GO:0031091	Component	Platelet alpha granule	IDA	12773094
GO:0031333	Process	Negative regulation of protein-containing complex assembly	IEA
GO:0031338	Process	Regulation of vesicle fusion	IEA
GO:0031630	Process	Regulation of synaptic vesicle fusion to presynaptic active zone membrane	TAS	15217342
GO:0032229	Process	Negative regulation of synaptic transmission, GABAergic	IEA
GO:0032229	Process	Negative regulation of synaptic transmission, GABAergic	ISS
GO:0032355	Process	Response to estradiol	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0032991	Component	Protein-containing complex	ISS
GO:0035493	Process	SNARE complex assembly	IMP	23091057
GO:0035542	Process	Regulation of SNARE complex assembly	TAS	15217342
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	ISS
GO:0043274	Function	Phospholipase binding	IEA
GO:0043306	Process	Positive regulation of mast cell degranulation	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0045055	Process	Regulated exocytosis	IEA
GO:0045335	Component	Phagocytic vesicle	IEA
GO:0045921	Process	Positive regulation of exocytosis	IEA
GO:0045956	Process	Positive regulation of calcium ion-dependent exocytosis	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0050821	Process	Protein stabilization	IEA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0060292	Process	Long-term synaptic depression	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070527	Process	Platelet aggregation	IMP	12773094
GO:0071346	Process	Cellular response to type II interferon	IEA
GO:0072659	Process	Protein localization to plasma membrane	IDA	17543282
GO:0098688	Component	Parallel fiber to Purkinje cell synapse	IEA
GO:0098793	Component	Presynapse	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098831	Component	Presynaptic active zone cytoplasmic component	IEA
GO:0098888	Component	Extrinsic component of presynaptic membrane	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099523	Component	Presynaptic cytosol	IEA
GO:0099525	Process	Presynaptic dense core vesicle exocytosis	IBA
GO:0106022	Process	Positive regulation of vesicle docking	IEA
GO:1903296	Process	Positive regulation of glutamate secretion, neurotransmission	IEA
GO:1903305	Process	Regulation of regulated secretory pathway	IEA
GO:2000367	Process	Regulation of acrosomal vesicle exocytosis	IMP	23091057

MIM	HGNC	e!Ensembl
602926	11444	ENSG00000136854

Protein

UniProt ID

P61764

Protein name

Syntaxin-binding protein 1 (MUNC18-1) (N-Sec1) (Protein unc-18 homolog 1) (Unc18-1) (Protein unc-18 homolog A) (Unc-18A) (p67)

Protein function

Participates in the regulation of synaptic vesicle docking and fusion through interaction with GTP-binding proteins (By similarity). Essential for neurotransmission and binds syntaxin, a component of the synaptic vesicle fusion machinery probabl

PDB

6L03

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00995	Sec1	29 → 581	Sec1 family	Family

Tissue specificity

TISSUE SPECIFICITY: Brain and spinal cord. Highly enriched in axons.

Sequence

MAPIGLKAVVGEKIMHDVIKKVKKKGEWKVLVVDQLSMRMLSSCCKMTDIMTEGITIVED
INKRREPLPSLEAVYLITPSEKSVHSLISDFKDPPTAKYRAAHVFFTDSCPDALFNELVK
SRAAKVIKTLTEINIAFLPYESQVYSLDSADSFQSFYSPHKAQMKNPILERLAEQIATLC
ATLKEYPAVRYRGEYKDNALLAQLIQDKLDAYKADDPTMGEGPDKARSQLLILDRGFDPS
SPVLHELTFQAMSYDLLPIENDVYKYETSGIGEARVKEVLLDEDDDLWIALRHKHIAEVS
QEVTRSLKDFSSSKRMNTGEKTTMRDLSQMLKKMPQYQKELSKYSTHLHLAEDCMKHYQG
TVDKLCRVEQDLAMGTDAEGEKIKDPMRAIVPILLDANVSTYDKIRIILLYIFLKNGITE
ENLNKLIQHAQIPPEDSEIITNMAHLGVPIVTDSTLRRRSKPERKERISEQTYQLSRWTP
IIKDIMEDTIEDKLDTKHYPYISTRSSASFSTTAVSARYGHWHKNKAPGEYRSGPRLIIF
ILGGVSLNEMRCAYEVTQANGKWEVLIGSTHILTPQKLLDTLKKLNKTDEEISS

Sequence length

594

Interactions

View interactions

	KEGG		Reactome
	Synaptic vesicle cycle		Serotonin Neurotransmitter Release Cycle Norepinephrine Neurotransmitter Release Cycle Glutamate Neurotransmitter Release Cycle Dopamine Neurotransmitter Release Cycle Acetylcholine Neurotransmitter Release Cycle GABA synthesis, release, reuptake and degradation

Show/Hide Causal Diseases (7)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Developmental And Epileptic Encephalopathy	Developmental and epileptic encephalopathy, 4	rs886041246, rs1841611480, rs796053373, rs112002192, rs796053353, rs796053357, rs1588302912, rs886041337, rs587784455, rs1554778417, rs727504173, rs121918317, rs1461664423, rs796053366, rs587784453 View all (43 more)	N/A
Epileptic Encephalopathy	early infantile epileptic encephalopathy with suppression bursts	rs796053390, rs1564346538, rs1554777464, rs587777310, rs1060501724, rs1554778417, rs796053366, rs1060501722, rs796053353, rs1564352002, rs796053374, rs1060501723, rs1842042825, rs1057522982, rs796053373 View all (37 more)	N/A
Epileptic encephalopathy	epileptic encephalopathy, Early onset epileptic encephalopathy	rs796053366, rs796053367, rs1057519189, rs1057518985, rs1057519538, rs1057519539, rs786205598, rs1057519537	N/A
Mental retardation	intellectual disability	rs796053353, rs794727792, rs1588324025, rs796053366, rs796053368	N/A
non-syndromic intellectual disability	Non-syndromic intellectual disability	rs1135401819	N/A
Spastic Ataxia	spastic ataxia	rs786205598	N/A
West Syndrome	west syndrome	rs786205598	N/A

Show/Hide Unknown Diseases (6)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Autism Spectrum Disorder	autism spectrum disorder	N/A	N/A	GenCC
Dravet Syndrome	Dravet syndrome	N/A	N/A	GenCC
Infantile Spasms	infantile spasms	N/A	N/A	GenCC
Pancreatitis	Acute pancreatitis	N/A	N/A	GWAS
Prostate cancer	Prostate cancer	N/A	N/A	GWAS
Rett Syndrome	atypical Rett syndrome	N/A	N/A	GenCC

Show/Hide Text Mining Associations (68)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	32321873
Alcohol Related Disorders	Associate	38015929
Alzheimer Disease	Associate	22532456, 37848007
Amblyopia	Associate	23531706
Astrocytoma	Associate	38136601
Ataxia	Associate	32105008, 33332765
Autism Spectrum Disorder	Associate	38057311
Autistic Disorder	Associate	22722545, 27824329, 35851549, 37583270
Body Dysmorphic Disorders	Associate	26993267
Brain Diseases	Associate	20887364, 21364700, 21762454, 21770924, 22722545, 23409955, 23531706, 25418441, 25818041, 26280581, 26344814, 26514728, 26648591, 26795593, 26918652 View all (13 more)
Ceroid Lipofuscinosis Neuronal 1	Inhibit	28792770
Chorea	Associate	21770924
Chromosome Disorders	Associate	26395556
Cognition Disorders	Associate	35851549
Cognitive Dysfunction	Associate	26280581
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	21364700
Death Sudden	Associate	31255830
Developmental Disabilities	Associate	26740508, 26993267, 29438995, 29896790, 31056551, 31387522, 33332765, 35190816, 37407264, 37583270, 38015929
Drug Related Side Effects and Adverse Reactions	Associate	29599780
Dystonia	Associate	35851549
Dystonic Disorders	Associate	22722545
Early Onset Glaucoma	Associate	40180227
Epilepsies Myoclonic	Associate	24623842, 29929108, 33912281
Epilepsy	Associate	21364700, 21770924, 22722545, 23531706, 25418441, 25914188, 26395556, 26795593, 28074849, 29056246, 29190809, 30977854, 31056551, 31344879, 31387522 View all (6 more)
Epilepsy Partial Motor	Associate	35851549
Epileptic Encephalopathy Early Infantile 3	Associate	23531706, 26514728, 29896790, 32853554, 35851549, 36084525, 36571524, 36882827
Epileptic Encephalopathy Early Infantile 4	Associate	24700782, 39456768
Epileptic Syndromes	Associate	21770924, 25631041
Gait Disorders Neurologic	Associate	35851549
Hyperimmunoglobulin G1(A1) Syndrome	Associate	26344814
Hyperkinesis	Associate	31387522
Hypersensitivity Delayed	Associate	39456768
Infant Newborn Diseases	Associate	23531706
Infantile Epileptic Dyskinetic Encephalopathy	Associate	21204804, 21364700, 21762454, 21770924, 23409955, 23531706, 25631041, 26280581, 26514728, 26918652, 27597757, 28387369, 29896790, 30185235, 31976320, 32105008 View all (1 more)
Intellectual Disability	Associate	21364700, 22722545, 26395556, 31387522, 32105008, 33176815, 33332765, 35851549
Language Development Disorders	Associate	35851549
Language Disorders	Associate	31387522
Lennox Gastaut Syndrome	Associate	31255830, 33912281
Leukoaraiosis	Associate	39456768
Medulloblastoma	Associate	38136601
Mental Disorders	Associate	35851549
Mitochondrial complex I deficiency	Associate	25418441
Mitochondrial Diseases	Associate	25418441
Mobility Limitation	Associate	31387522
Movement Disorders	Associate	22722545, 37583270
Multiple Sclerosis	Associate	37848007
Nails Malformed	Associate	21762454
Neoplasms	Associate	38136601
Nervous System Diseases	Associate	31387522
Neurologic Manifestations	Associate	33332765
Non Muscle Invasive Bladder Neoplasms	Associate	22724020
Parkinson Disease	Associate	29929108
Parkinson Disease Secondary	Associate	25418441
Pelizaeus Merzbacher like disease autosomal recessive 2	Associate	39456768
Polycystic Ovary Syndrome	Associate	26308735
Progressive hearing loss stapes fixation	Associate	33176815
Protein Losing Enteropathies	Associate	32126979
Psychomotor Disorders	Associate	31344879
Rett Syndrome	Associate	25914188, 26740508, 31344879, 32105008
Seizures	Associate	21770924, 23409955, 33912281, 33951346, 35007884, 35190816, 35851549, 36882827, 38015929, 39456768
Space Motion Sickness	Associate	31387522
Spasm	Associate	20887364, 21770924, 23409955, 23531706, 32773773, 35851549, 37583270
Spasms Infantile	Associate	21204804, 21762454, 23409955, 23531706, 29314583, 29896790, 31394400, 32773773, 33951346, 35007884, 35190816, 36279597, 37583270, 38015929
Speech Disorders	Associate	32853554
Sudden Unexpected Death in Epilepsy	Associate	31255830
Tremor	Associate	21762454, 32105008, 33332765, 35851549
Urinary Bladder Neoplasms	Associate	22724020
Vascular Diseases	Associate	22722545

STXBP1 (syntaxin binding protein 1)