Syntaxin-binding protein 1

<p>Provides any useful information about the protein, mostly biological knowledge.</p><p><a href='../manual/function_section' target='_top'>More...</a></p>Functionⁱ

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Molecular functionⁱ

• identical protein binding Source: UniProtKB
• poly(A) RNA binding Source: UniProtKB

  <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ

  • 22658674

• SNARE binding Source: UniProtKB
• syntaxin-1 binding Source: UniProtKB

  <p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ipi">GO evidence code guide</a></p> Inferred from physical interactionⁱ

  • 12730201
  • 19748891

• syntaxin binding Source: UniProtKB

  <p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ipi">GO evidence code guide</a></p> Inferred from physical interactionⁱ

  • 12773094

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Biological processⁱ

• axon target recognition Source: UniProtKB
• glutamate secretion Source: Reactome
• long term synaptic depression Source: Ensembl
• negative regulation of neuron apoptotic process Source: Ensembl
• negative regulation of synaptic transmission, GABAergic Source: UniProtKB
• neuromuscular synaptic transmission Source: Ensembl
• neurotransmitter secretion Source: Reactome
• platelet aggregation Source: UniProtKB

  <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ

  • 12773094

• platelet degranulation Source: UniProtKB

  <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ

  • 12773094

• positive regulation of calcium ion-dependent exocytosis Source: Ensembl
• protein localization to plasma membrane Source: UniProtKB

  <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ

  • 17543282

• protein stabilization Source: Ensembl
• protein transport Source: UniProtKB-KW
• regulation of SNARE complex assembly Source: ParkinsonsUK-UCL

  <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementⁱ

  • 15217342

• regulation of synaptic vesicle fusion to presynaptic membrane Source: ParkinsonsUK-UCL

  <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementⁱ

  • 15217342

• regulation of synaptic vesicle priming Source: UniProtKB
• synaptic vesicle maturation Source: UniProtKB
• vesicle docking involved in exocytosis Source: Ensembl

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Biological processⁱ

Enzyme and pathway databases

<p>Provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.</p><p><a href='../manual/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyⁱ

Organism-specific databases

<p>Provides information on the location and the topology of the mature protein in the cell.</p><p><a href='../manual/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationⁱ

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Cellular componentⁱ

• cytoplasm Source: UniProtKB
• cytosol Source: Reactome
• extracellular exosome Source: UniProtKB

  <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ

  • 19056867

• mitochondrion Source: UniProtKB
• myelin sheath Source: Ensembl
• nucleoplasm Source: HPA
• plasma membrane Source: UniProtKB

  <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ

  • 12773094

• platelet alpha granule Source: UniProtKB

  <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ

  • 12773094

• protein complex Source: UniProtKB
• terminal bouton Source: Ensembl

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componentⁱ

<p>Provides information on the disease(s) and phenotype(s) associated with a protein.</p><p><a href='../manual/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechⁱ

<p>Provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim"><span class="caps">OMIM</span></a> database are represented with a <a href="/diseases">controlled vocabulary</a> in the following way:</p><p><a href='../manual/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseaseⁱ

Epileptic encephalopathy, early infantile, 4 (EIEE4)6 Publications

<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment inⁱ

• Ref.7

  "De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy."
  Saitsu H., Kato M., Mizuguchi T., Hamada K., Osaka H., Tohyama J., Uruno K., Kumada S., Nishiyama K., Nishimura A., Okada I., Yoshimura Y., Hirai S., Kumada T., Hayasaka K., Fukuda A., Ogata K., Matsumoto N.
  Nat. Genet. 40:782-788(2008) [PubMed] [Europe PMC] [Abstract]

  Cited for: INVOLVEMENT IN EIEE4, VARIANTS EIEE4 ASP-84; TYR-180; ARG-443 AND ASP-544, CHARACTERIZATION OF VARIANTS EIEE4 ASP-84; TYR-180; ARG-443 AND ASP-544.
• Ref.11

  "STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern."
  Saitsu H., Kato M., Okada I., Orii K.E., Higuchi T., Hoshino H., Kubota M., Arai H., Tagawa T., Kimura S., Sudo A., Miyama S., Takami Y., Watanabe T., Nishimura A., Nishiyama K., Miyake N., Wada T.

  , Osaka H., Kondo N., Hayasaka K., Matsumoto N.
  Epilepsia 51:2397-2405(2010) [PubMed] [Europe PMC] [Abstract]

  Cited for: VARIANT EIEE4 HIS-406, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS ILE-84 AND LEU-431.
• Ref.12

  "Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations."
  Milh M., Villeneuve N., Chouchane M., Kaminska A., Laroche C., Barthez M.A., Gitiaux C., Bartoli C., Borges-Correia A., Cacciagli P., Mignon-Ravix C., Cuberos H., Chabrol B., Villard L.
  Epilepsia 52:1828-1834(2011) [PubMed] [Europe PMC] [Abstract]

  Cited for: VARIANTS EIEE4 ARG-183; LEU-480 AND PRO-574.
• Ref.13

  "A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern."
  Romaniello R., Zucca C., Tenderini E., Arrigoni F., Ragona F., Zorzi G., Bassi M.T., Borgatti R.
  J. Child Neurol. 29:249-253(2014) [PubMed] [Europe PMC] [Abstract]

  Cited for: VARIANT EIEE4 THR-251.
• Ref.14

  "GABRA1 and STXBP1: novel genetic causes of Dravet syndrome."
  Carvill G.L., Weckhuysen S., McMahon J.M., Hartmann C., Moller R.S., Hjalgrim H., Cook J., Geraghty E., O'Roak B.J., Petrou S., Clarke A., Gill D., Sadleir L.G., Muhle H., von Spiczak S., Nikanorova M., Hodgson B.L., Gazina E.V.

  , Suls A., Shendure J., Dibbens L.M., De Jonghe P., Helbig I., Berkovic S.F., Scheffer I.E., Mefford H.C.
  Neurology 82:1245-1253(2014) [PubMed] [Europe PMC] [Abstract]

  Cited for: VARIANTS EIEE4 LYS-283; TYR-285 AND PRO-445.
• Ref.15

  "A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype."
  Romaniello R., Saettini F., Panzeri E., Arrigoni F., Bassi M.T., Borgatti R.
  NeuroReport 26:254-257(2015) [PubMed] [Europe PMC] [Abstract]

  Cited for: VARIANT EIEE4 HIS-406.

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Affected individuals have neonatal or infantile onset of seizures, profound mental retardation, and MRI evidence of brain hypomyelination.

See also OMIM:612164

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	84 – 84	1	V → D in EIEE4; may alter protein structure. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.7 "De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy." Saitsu H., Kato M., Mizuguchi T., Hamada K., Osaka H., Tohyama J., Uruno K., Kumada S., Nishiyama K., Nishimura A., Okada I., Yoshimura Y., Hirai S., Kumada T., Hayasaka K., Fukuda A., Ogata K., Matsumoto N. Nat. Genet. 40:782-788(2008) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN EIEE4, VARIANTS EIEE4 ASP-84; TYR-180; ARG-443 AND ASP-544, CHARACTERIZATION OF VARIANTS EIEE4 ASP-84; TYR-180; ARG-443 AND ASP-544. Corresponds to variant rs121918320 [ dbSNP | Ensembl ].		VAR_046205
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	180 – 180	1	C → Y in EIEE4; reduced thermostability; decreased binding to STX1A. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.7 "De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy." Saitsu H., Kato M., Mizuguchi T., Hamada K., Osaka H., Tohyama J., Uruno K., Kumada S., Nishiyama K., Nishimura A., Okada I., Yoshimura Y., Hirai S., Kumada T., Hayasaka K., Fukuda A., Ogata K., Matsumoto N. Nat. Genet. 40:782-788(2008) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN EIEE4, VARIANTS EIEE4 ASP-84; TYR-180; ARG-443 AND ASP-544, CHARACTERIZATION OF VARIANTS EIEE4 ASP-84; TYR-180; ARG-443 AND ASP-544. Corresponds to variant rs121918318 [ dbSNP | Ensembl ].		VAR_046206
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	183 – 183	1	L → R in EIEE4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.12 "Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations." Milh M., Villeneuve N., Chouchane M., Kaminska A., Laroche C., Barthez M.A., Gitiaux C., Bartoli C., Borges-Correia A., Cacciagli P., Mignon-Ravix C., Cuberos H., Chabrol B., Villard L. Epilepsia 52:1828-1834(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS EIEE4 ARG-183; LEU-480 AND PRO-574.		VAR_073149
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	251 – 251	1	A → T in EIEE4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.13 "A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern." Romaniello R., Zucca C., Tenderini E., Arrigoni F., Ragona F., Zorzi G., Bassi M.T., Borgatti R. J. Child Neurol. 29:249-253(2014) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT EIEE4 THR-251.		VAR_073150
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	283 – 283	1	E → K in EIEE4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.14 "GABRA1 and STXBP1: novel genetic causes of Dravet syndrome." Carvill G.L., Weckhuysen S., McMahon J.M., Hartmann C., Moller R.S., Hjalgrim H., Cook J., Geraghty E., O'Roak B.J., Petrou S., Clarke A., Gill D., Sadleir L.G., Muhle H., von Spiczak S., Nikanorova M., Hodgson B.L., Gazina E.V. , Suls A., Shendure J., Dibbens L.M., De Jonghe P., Helbig I., Berkovic S.F., Scheffer I.E., Mefford H.C. Neurology 82:1245-1253(2014) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS EIEE4 LYS-283; TYR-285 AND PRO-445. Corresponds to variant rs587777310 [ dbSNP | Ensembl ].		VAR_071814
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	285 – 285	1	D → Y in EIEE4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.14 "GABRA1 and STXBP1: novel genetic causes of Dravet syndrome." Carvill G.L., Weckhuysen S., McMahon J.M., Hartmann C., Moller R.S., Hjalgrim H., Cook J., Geraghty E., O'Roak B.J., Petrou S., Clarke A., Gill D., Sadleir L.G., Muhle H., von Spiczak S., Nikanorova M., Hodgson B.L., Gazina E.V. , Suls A., Shendure J., Dibbens L.M., De Jonghe P., Helbig I., Berkovic S.F., Scheffer I.E., Mefford H.C. Neurology 82:1245-1253(2014) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS EIEE4 LYS-283; TYR-285 AND PRO-445.		VAR_071815
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	406 – 406	1	R → H in EIEE4. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.11 "STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern." Saitsu H., Kato M., Okada I., Orii K.E., Higuchi T., Hoshino H., Kubota M., Arai H., Tagawa T., Kimura S., Sudo A., Miyama S., Takami Y., Watanabe T., Nishimura A., Nishiyama K., Miyake N., Wada T. , Osaka H., Kondo N., Hayasaka K., Matsumoto N. Epilepsia 51:2397-2405(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT EIEE4 HIS-406, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS ILE-84 AND LEU-431. Ref.15 "A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype." Romaniello R., Saettini F., Panzeri E., Arrigoni F., Bassi M.T., Borgatti R. NeuroReport 26:254-257(2015) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT EIEE4 HIS-406.		VAR_073151
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	443 – 443	1	M → R in EIEE4; may alter protein structure. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.7 "De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy." Saitsu H., Kato M., Mizuguchi T., Hamada K., Osaka H., Tohyama J., Uruno K., Kumada S., Nishiyama K., Nishimura A., Okada I., Yoshimura Y., Hirai S., Kumada T., Hayasaka K., Fukuda A., Ogata K., Matsumoto N. Nat. Genet. 40:782-788(2008) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN EIEE4, VARIANTS EIEE4 ASP-84; TYR-180; ARG-443 AND ASP-544, CHARACTERIZATION OF VARIANTS EIEE4 ASP-84; TYR-180; ARG-443 AND ASP-544. Corresponds to variant rs121918319 [ dbSNP | Ensembl ].		VAR_046207
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	445 – 445	1	H → P in EIEE4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.14 "GABRA1 and STXBP1: novel genetic causes of Dravet syndrome." Carvill G.L., Weckhuysen S., McMahon J.M., Hartmann C., Moller R.S., Hjalgrim H., Cook J., Geraghty E., O'Roak B.J., Petrou S., Clarke A., Gill D., Sadleir L.G., Muhle H., von Spiczak S., Nikanorova M., Hodgson B.L., Gazina E.V. , Suls A., Shendure J., Dibbens L.M., De Jonghe P., Helbig I., Berkovic S.F., Scheffer I.E., Mefford H.C. Neurology 82:1245-1253(2014) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS EIEE4 LYS-283; TYR-285 AND PRO-445.		VAR_071816
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	480 – 480	1	P → L in EIEE4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.12 "Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations." Milh M., Villeneuve N., Chouchane M., Kaminska A., Laroche C., Barthez M.A., Gitiaux C., Bartoli C., Borges-Correia A., Cacciagli P., Mignon-Ravix C., Cuberos H., Chabrol B., Villard L. Epilepsia 52:1828-1834(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS EIEE4 ARG-183; LEU-480 AND PRO-574. Corresponds to variant rs796053368 [ dbSNP | Ensembl ].		VAR_073153
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	544 – 544	1	G → D in EIEE4; may alter protein structure. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.7 "De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy." Saitsu H., Kato M., Mizuguchi T., Hamada K., Osaka H., Tohyama J., Uruno K., Kumada S., Nishiyama K., Nishimura A., Okada I., Yoshimura Y., Hirai S., Kumada T., Hayasaka K., Fukuda A., Ogata K., Matsumoto N. Nat. Genet. 40:782-788(2008) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN EIEE4, VARIANTS EIEE4 ASP-84; TYR-180; ARG-443 AND ASP-544, CHARACTERIZATION OF VARIANTS EIEE4 ASP-84; TYR-180; ARG-443 AND ASP-544. Corresponds to variant rs121918317 [ dbSNP | Ensembl ].		VAR_046208
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	574 – 574	1	T → P in EIEE4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.12 "Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations." Milh M., Villeneuve N., Chouchane M., Kaminska A., Laroche C., Barthez M.A., Gitiaux C., Bartoli C., Borges-Correia A., Cacciagli P., Mignon-Ravix C., Cuberos H., Chabrol B., Villard L. Epilepsia 52:1828-1834(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS EIEE4 ARG-183; LEU-480 AND PRO-574.		VAR_073154

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Diseaseⁱ

Organism-specific databases

Polymorphism and mutation databases

<p>Describes post-translational modifications (PTMs) and/or processing events.</p><p><a href='../manual/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Describes the extent of a polypeptide chain in the mature protein following processing.</p><p><a href='../manual/chain' target='_top'>More...</a></p>Chaini	1 – 594	594	Syntaxin-binding protein 1		PRO_0000206277	Add BLAST

Amino acid modifications

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Specifies the position and type of each modified residue excluding <a href="/manual/lipid">lipids</a>, <a href="/manual/carbohyd">glycans</a> and <a href="/manual/crosslnk">protein cross-links</a>.</p><p><a href='../manual/mod_res' target='_top'>More...</a></p>Modified residuei	476 – 476	1	PhosphoserineBy similarity <p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More…</a></p> Manual assertion inferred from sequence similarity toi UniProtKB:P61765 (STXB1_RAT)
<p>Specifies the position and type of each modified residue excluding <a href="/manual/lipid">lipids</a>, <a href="/manual/carbohyd">glycans</a> and <a href="/manual/crosslnk">protein cross-links</a>.</p><p><a href='../manual/mod_res' target='_top'>More...</a></p>Modified residuei	509 – 509	1	PhosphoserineBy similarity <p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More…</a></p> Manual assertion inferred from sequence similarity toi UniProtKB:O08599 (STXB1_MOUSE)
<p>Specifies the position and type of each modified residue excluding <a href="/manual/lipid">lipids</a>, <a href="/manual/carbohyd">glycans</a> and <a href="/manual/crosslnk">protein cross-links</a>.</p><p><a href='../manual/mod_res' target='_top'>More...</a></p>Modified residuei	511 – 511	1	PhosphoserineBy similarity <p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More…</a></p> Manual assertion inferred from sequence similarity toi UniProtKB:O08599 (STXB1_MOUSE)
<p>Specifies the position and type of each modified residue excluding <a href="/manual/lipid">lipids</a>, <a href="/manual/carbohyd">glycans</a> and <a href="/manual/crosslnk">protein cross-links</a>.</p><p><a href='../manual/mod_res' target='_top'>More...</a></p>Modified residuei	516 – 516	1	PhosphoserineBy similarity <p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More…</a></p> Manual assertion inferred from sequence similarity toi UniProtKB:O08599 (STXB1_MOUSE)
<p>Specifies the position and type of each modified residue excluding <a href="/manual/lipid">lipids</a>, <a href="/manual/carbohyd">glycans</a> and <a href="/manual/crosslnk">protein cross-links</a>.</p><p><a href='../manual/mod_res' target='_top'>More...</a></p>Modified residuei	593 – 593	1	PhosphoserineBy similarity <p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More…</a></p> Manual assertion inferred from sequence similarity toi UniProtKB:P61765 (STXB1_RAT)

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - PTMⁱ

Proteomic databases

PTM databases

<p>Provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.</p><p><a href='../manual/expression_section' target='_top'>More...</a></p>Expressionⁱ

<p>Provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’.<br />Examples: <a href="/uniprot/P92958#expression"><span class="caps">P92958</span></a>, <a href="/uniprot/Q8TDN4#expression"><span class="caps">Q8TDN4</span></a>, <a href="/uniprot/O14734#expression"><span class="caps">O14734</span></a></p><p><a href='../manual/tissue_specificity' target='_top'>More...</a></p>Tissue specificityⁱ

Gene expression databases

Organism-specific databases

<p>Provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.</p><p><a href='../manual/interaction_section' target='_top'>More...</a></p>Interactionⁱ

<p>Provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="/help/function_section">‘Function’</a> section).</p><p><a href='../manual/subunit_structure' target='_top'>More...</a></p>Subunit structureⁱ

<p>Provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.</p><p><a href='../manual/binary_interactions' target='_top'>More...</a></p>Binary interactionsⁱ

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Molecular functionⁱ

• identical protein binding Source: UniProtKB
• SNARE binding Source: UniProtKB
• syntaxin-1 binding Source: UniProtKB

  <p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ipi">GO evidence code guide</a></p> Inferred from physical interactionⁱ

  • 12730201
  • 19748891

• syntaxin binding Source: UniProtKB

  <p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ipi">GO evidence code guide</a></p> Inferred from physical interactionⁱ

  • 12773094

Protein-protein interaction databases

<p>Provides information on the tertiary and secondary structure of a protein.</p><p><a href='../manual/structure_section' target='_top'>More...</a></p>Structureⁱ

3D structure databases

<p>Provides information on sequence similarities with other proteins and the domain(s) present in a protein.</p><p><a href='../manual/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsⁱ

<p>Provides information about the sequence similarity with other proteins.</p><p><a href='../manual/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesⁱ

Phylogenomic databases

Family and domain databases

<p>Displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including length and molecular weight.</p><p><a href='../manual/sequences_section' target='_top'>More...</a></p>Sequences (2)ⁱ

<p>Indicates if the <a href="/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.</p><p><a href='../manual/sequence_status' target='_top'>More...</a></p>Sequence statusⁱ: Complete.

This entry describes 2<p>Lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.</p><p><a href='../manual/alternative_products' target='_top'>More...</a></p> isoformsⁱ produced by alternative splicing. AlignAdd to basketAdded to basket

        10         20         30         40         50
MAPIGLKAVV GEKIMHDVIK KVKKKGEWKV LVVDQLSMRM LSSCCKMTDI 
        60         70         80         90        100
MTEGITIVED INKRREPLPS LEAVYLITPS EKSVHSLISD FKDPPTAKYR 
       110        120        130        140        150
AAHVFFTDSC PDALFNELVK SRAAKVIKTL TEINIAFLPY ESQVYSLDSA 
       160        170        180        190        200
DSFQSFYSPH KAQMKNPILE RLAEQIATLC ATLKEYPAVR YRGEYKDNAL 
       210        220        230        240        250
LAQLIQDKLD AYKADDPTMG EGPDKARSQL LILDRGFDPS SPVLHELTFQ 
       260        270        280        290        300
AMSYDLLPIE NDVYKYETSG IGEARVKEVL LDEDDDLWIA LRHKHIAEVS 
       310        320        330        340        350
QEVTRSLKDF SSSKRMNTGE KTTMRDLSQM LKKMPQYQKE LSKYSTHLHL 
       360        370        380        390        400
AEDCMKHYQG TVDKLCRVEQ DLAMGTDAEG EKIKDPMRAI VPILLDANVS 
       410        420        430        440        450
TYDKIRIILL YIFLKNGITE ENLNKLIQHA QIPPEDSEII TNMAHLGVPI 
       460        470        480        490        500
VTDSTLRRRS KPERKERISE QTYQLSRWTP IIKDIMEDTI EDKLDTKHYP 
       510        520        530        540        550
YISTRSSASF STTAVSARYG HWHKNKAPGE YRSGPRLIIF ILGGVSLNEM 
       560        570        580        590 
RCAYEVTQAN GKWEVLIGST HILTPQKLLD TLKKLNKTDE EISS 

        10         20         30         40         50
MAPIGLKAVV GEKIMHDVIK KVKKKGEWKV LVVDQLSMRM LSSCCKMTDI 
        60         70         80         90        100
MTEGITIVED INKRREPLPS LEAVYLITPS EKSVHSLISD FKDPPTAKYR 
       110        120        130        140        150
AAHVFFTDSC PDALFNELVK SRAAKVIKTL TEINIAFLPY ESQVYSLDSA 
       160        170        180        190        200
DSFQSFYSPH KAQMKNPILE RLAEQIATLC ATLKEYPAVR YRGEYKDNAL 
       210        220        230        240        250
LAQLIQDKLD AYKADDPTMG EGPDKARSQL LILDRGFDPS SPVLHELTFQ 
       260        270        280        290        300
AMSYDLLPIE NDVYKYETSG IGEARVKEVL LDEDDDLWIA LRHKHIAEVS 
       310        320        330        340        350
QEVTRSLKDF SSSKRMNTGE KTTMRDLSQM LKKMPQYQKE LSKYSTHLHL 
       360        370        380        390        400
AEDCMKHYQG TVDKLCRVEQ DLAMGTDAEG EKIKDPMRAI VPILLDANVS 
       410        420        430        440        450
TYDKIRIILL YIFLKNGITE ENLNKLIQHA QIPPEDSEII TNMAHLGVPI 
       460        470        480        490        500
VTDSTLRRRS KPERKERISE QTYQLSRWTP IIKDIMEDTI EDKLDTKHYP 
       510        520        530        540        550
YISTRSSASF STTAVSARYG HWHKNKAPGE YRSGPRLIIF ILGGVSLNEM 
       560        570        580        590        600
RCAYEVTQAN GKWEVLIGST HILTPTKFLM DLRHPDFRES SRVSFEDQAP 

TME                                             

Natural variant

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	84 – 84	1	V → D in EIEE4; may alter protein structure. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.7 "De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy." Saitsu H., Kato M., Mizuguchi T., Hamada K., Osaka H., Tohyama J., Uruno K., Kumada S., Nishiyama K., Nishimura A., Okada I., Yoshimura Y., Hirai S., Kumada T., Hayasaka K., Fukuda A., Ogata K., Matsumoto N. Nat. Genet. 40:782-788(2008) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN EIEE4, VARIANTS EIEE4 ASP-84; TYR-180; ARG-443 AND ASP-544, CHARACTERIZATION OF VARIANTS EIEE4 ASP-84; TYR-180; ARG-443 AND ASP-544. Corresponds to variant rs121918320 [ dbSNP | Ensembl ].		VAR_046205
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	84 – 84	1	V → I Neutral polymorphism; no effect on subcellular location. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.11 "STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern." Saitsu H., Kato M., Okada I., Orii K.E., Higuchi T., Hoshino H., Kubota M., Arai H., Tagawa T., Kimura S., Sudo A., Miyama S., Takami Y., Watanabe T., Nishimura A., Nishiyama K., Miyake N., Wada T. , Osaka H., Kondo N., Hayasaka K., Matsumoto N. Epilepsia 51:2397-2405(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT EIEE4 HIS-406, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS ILE-84 AND LEU-431. Corresponds to variant rs34830702 [ dbSNP | Ensembl ].		VAR_073148
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	180 – 180	1	C → Y in EIEE4; reduced thermostability; decreased binding to STX1A. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.7 "De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy." Saitsu H., Kato M., Mizuguchi T., Hamada K., Osaka H., Tohyama J., Uruno K., Kumada S., Nishiyama K., Nishimura A., Okada I., Yoshimura Y., Hirai S., Kumada T., Hayasaka K., Fukuda A., Ogata K., Matsumoto N. Nat. Genet. 40:782-788(2008) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN EIEE4, VARIANTS EIEE4 ASP-84; TYR-180; ARG-443 AND ASP-544, CHARACTERIZATION OF VARIANTS EIEE4 ASP-84; TYR-180; ARG-443 AND ASP-544. Corresponds to variant rs121918318 [ dbSNP | Ensembl ].		VAR_046206
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	183 – 183	1	L → R in EIEE4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.12 "Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations." Milh M., Villeneuve N., Chouchane M., Kaminska A., Laroche C., Barthez M.A., Gitiaux C., Bartoli C., Borges-Correia A., Cacciagli P., Mignon-Ravix C., Cuberos H., Chabrol B., Villard L. Epilepsia 52:1828-1834(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS EIEE4 ARG-183; LEU-480 AND PRO-574.		VAR_073149
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	251 – 251	1	A → T in EIEE4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.13 "A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern." Romaniello R., Zucca C., Tenderini E., Arrigoni F., Ragona F., Zorzi G., Bassi M.T., Borgatti R. J. Child Neurol. 29:249-253(2014) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT EIEE4 THR-251.		VAR_073150
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	283 – 283	1	E → K in EIEE4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.14 "GABRA1 and STXBP1: novel genetic causes of Dravet syndrome." Carvill G.L., Weckhuysen S., McMahon J.M., Hartmann C., Moller R.S., Hjalgrim H., Cook J., Geraghty E., O'Roak B.J., Petrou S., Clarke A., Gill D., Sadleir L.G., Muhle H., von Spiczak S., Nikanorova M., Hodgson B.L., Gazina E.V. , Suls A., Shendure J., Dibbens L.M., De Jonghe P., Helbig I., Berkovic S.F., Scheffer I.E., Mefford H.C. Neurology 82:1245-1253(2014) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS EIEE4 LYS-283; TYR-285 AND PRO-445. Corresponds to variant rs587777310 [ dbSNP | Ensembl ].		VAR_071814
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	285 – 285	1	D → Y in EIEE4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.14 "GABRA1 and STXBP1: novel genetic causes of Dravet syndrome." Carvill G.L., Weckhuysen S., McMahon J.M., Hartmann C., Moller R.S., Hjalgrim H., Cook J., Geraghty E., O'Roak B.J., Petrou S., Clarke A., Gill D., Sadleir L.G., Muhle H., von Spiczak S., Nikanorova M., Hodgson B.L., Gazina E.V. , Suls A., Shendure J., Dibbens L.M., De Jonghe P., Helbig I., Berkovic S.F., Scheffer I.E., Mefford H.C. Neurology 82:1245-1253(2014) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS EIEE4 LYS-283; TYR-285 AND PRO-445.		VAR_071815
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	406 – 406	1	R → H in EIEE4. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.11 "STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern." Saitsu H., Kato M., Okada I., Orii K.E., Higuchi T., Hoshino H., Kubota M., Arai H., Tagawa T., Kimura S., Sudo A., Miyama S., Takami Y., Watanabe T., Nishimura A., Nishiyama K., Miyake N., Wada T. , Osaka H., Kondo N., Hayasaka K., Matsumoto N. Epilepsia 51:2397-2405(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT EIEE4 HIS-406, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS ILE-84 AND LEU-431. Ref.15 "A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype." Romaniello R., Saettini F., Panzeri E., Arrigoni F., Bassi M.T., Borgatti R. NeuroReport 26:254-257(2015) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT EIEE4 HIS-406.		VAR_073151
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	431 – 431	1	Q → L Neutral polymorphism; expressed at low levels compared with wild-type; no effect on subcellular location. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.11 "STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern." Saitsu H., Kato M., Okada I., Orii K.E., Higuchi T., Hoshino H., Kubota M., Arai H., Tagawa T., Kimura S., Sudo A., Miyama S., Takami Y., Watanabe T., Nishimura A., Nishiyama K., Miyake N., Wada T. , Osaka H., Kondo N., Hayasaka K., Matsumoto N. Epilepsia 51:2397-2405(2010) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT EIEE4 HIS-406, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS ILE-84 AND LEU-431.		VAR_073152
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	443 – 443	1	M → R in EIEE4; may alter protein structure. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.7 "De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy." Saitsu H., Kato M., Mizuguchi T., Hamada K., Osaka H., Tohyama J., Uruno K., Kumada S., Nishiyama K., Nishimura A., Okada I., Yoshimura Y., Hirai S., Kumada T., Hayasaka K., Fukuda A., Ogata K., Matsumoto N. Nat. Genet. 40:782-788(2008) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN EIEE4, VARIANTS EIEE4 ASP-84; TYR-180; ARG-443 AND ASP-544, CHARACTERIZATION OF VARIANTS EIEE4 ASP-84; TYR-180; ARG-443 AND ASP-544. Corresponds to variant rs121918319 [ dbSNP | Ensembl ].		VAR_046207
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	445 – 445	1	H → P in EIEE4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.14 "GABRA1 and STXBP1: novel genetic causes of Dravet syndrome." Carvill G.L., Weckhuysen S., McMahon J.M., Hartmann C., Moller R.S., Hjalgrim H., Cook J., Geraghty E., O'Roak B.J., Petrou S., Clarke A., Gill D., Sadleir L.G., Muhle H., von Spiczak S., Nikanorova M., Hodgson B.L., Gazina E.V. , Suls A., Shendure J., Dibbens L.M., De Jonghe P., Helbig I., Berkovic S.F., Scheffer I.E., Mefford H.C. Neurology 82:1245-1253(2014) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS EIEE4 LYS-283; TYR-285 AND PRO-445.		VAR_071816
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	480 – 480	1	P → L in EIEE4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.12 "Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations." Milh M., Villeneuve N., Chouchane M., Kaminska A., Laroche C., Barthez M.A., Gitiaux C., Bartoli C., Borges-Correia A., Cacciagli P., Mignon-Ravix C., Cuberos H., Chabrol B., Villard L. Epilepsia 52:1828-1834(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS EIEE4 ARG-183; LEU-480 AND PRO-574. Corresponds to variant rs796053368 [ dbSNP | Ensembl ].		VAR_073153
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	544 – 544	1	G → D in EIEE4; may alter protein structure. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.7 "De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy." Saitsu H., Kato M., Mizuguchi T., Hamada K., Osaka H., Tohyama J., Uruno K., Kumada S., Nishiyama K., Nishimura A., Okada I., Yoshimura Y., Hirai S., Kumada T., Hayasaka K., Fukuda A., Ogata K., Matsumoto N. Nat. Genet. 40:782-788(2008) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN EIEE4, VARIANTS EIEE4 ASP-84; TYR-180; ARG-443 AND ASP-544, CHARACTERIZATION OF VARIANTS EIEE4 ASP-84; TYR-180; ARG-443 AND ASP-544. Corresponds to variant rs121918317 [ dbSNP | Ensembl ].		VAR_046208
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	574 – 574	1	T → P in EIEE4. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.12 "Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations." Milh M., Villeneuve N., Chouchane M., Kaminska A., Laroche C., Barthez M.A., Gitiaux C., Bartoli C., Borges-Correia A., Cacciagli P., Mignon-Ravix C., Cuberos H., Chabrol B., Villard L. Epilepsia 52:1828-1834(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS EIEE4 ARG-183; LEU-480 AND PRO-574.		VAR_073154

Alternative sequence

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.</p><p><a href='../manual/var_seq' target='_top'>More...</a></p>Alternative sequencei	576 – 594	19	QKLLD…EEISS → TKFLMDLRHPDFRESSRVSF EDQAPTME in isoform 2. 1 Publication <p>Manually curated information that is based on statements in scientific articles for which there is no experimental support.</p> <p><a href="/manual/evidences#ECO:0000303">More…</a></p> Manual assertion based on opinion ini Ref.2 "Identification and characterization of the human ortholog of rat STXBP1, a protein implicated in vesicle trafficking and neurotransmitter release." Swanson D.A., Steel J.M., Valle D. Genomics 48:373-376(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).		VSP_006713	Add BLAST

Sequence databases

Genome annotation databases

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Coding sequence diversityⁱ

<p>Is used to point to information related to entries and found in data collections other than UniProtKB.</p><p><a href='../manual/cross_references_section' target='_top'>More...</a></p>Cross-referencesⁱ

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>Provides general information on the entry.</p><p><a href='../manual/entry_information_section' target='_top'>More...</a></p>Entry informationⁱ

<p>Contains any relevant information that doesn’t fit in any other defined sections</p><p><a href='../manual/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousⁱ

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Technical termⁱ

Documents

1. Human chromosome 9
   Human chromosome 9: entries, gene names and cross-references to MIM
2. Human entries with polymorphisms or disease mutations
   List of human entries with polymorphisms or disease mutations
3. Human polymorphisms and disease mutations
   Index of human polymorphisms and disease mutations
4. MIM cross-references
   Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
5. SIMILARITY comments
   Index of protein domains and families

<p>Provides links to the UniProt Reference Clusters (<a href="/help/uniref">UniRef</a>). UniRef consists of clusters for UniProtKB sequences (including isoforms) and selected UniParc sequences, in order to obtain complete coverage of the sequence space at resolutions of 100%, 90% and 50% identity.</p><p><a href='../manual/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsⁱ