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STXBP1
HPA
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  • STXBP1
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

STXBP1
Synonyms hUNC18, MUNC18-1, nSec1, rbSec1, UNC18
Gene descriptioni

Full gene name according to HGNC.

Syntaxin binding protein 1
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Human disease related genes
Plasma proteins
Potential drug targets
Transporters
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Membrane, Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 9
Cytoband q34.11
Chromosome location (bp) 127579370 - 127696027
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

17
Ensembl ENSG00000136854 (version 109)
Entrez gene 6812
HGNC HGNC:11444
UniProt P61764 (UniProt - Evidence at protein level)
neXtProt NX_P61764
GeneCards STXBP1
Antibodypedia STXBP1 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

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 probably in a 1:1 ratio. Can interact with syntaxins 1, 2, and 3 but not syntaxin 4. Involved in the release of neurotransmitters from neurons through interacting with SNARE complex component STX1A and mediating the assembly of the SNARE complex at synaptic membranes (By similarity). May play a role in determining the specificity of intracellular fusion reactions.... show less
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

Protein transport, Transport
Gene summary (Entrez)i

Useful information about the gene from Entrez

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 epileptic encephalopathy-4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
STXBP1-201
ENSP00000362396
ENST00000373299
P61764
[Direct mapping] Syntaxin-binding protein 1
Show all
Transporters
   Transporter channels and pores
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Disease related genes
Potential drug targets
Human disease related genes
   Nervous system diseases
   Epilepsy
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000149 [SNARE binding]
GO:0002576 [platelet degranulation]
GO:0003006 [developmental process involved in reproduction]
GO:0003723 [RNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005886 [plasma membrane]
GO:0006886 [intracellular protein transport]
GO:0006887 [exocytosis]
GO:0006904 [vesicle docking involved in exocytosis]
GO:0007269 [neurotransmitter secretion]
GO:0007274 [neuromuscular synaptic transmission]
GO:0007412 [axon target recognition]
GO:0010807 [regulation of synaptic vesicle priming]
GO:0015031 [protein transport]
GO:0016020 [membrane]
GO:0016082 [synaptic vesicle priming]
GO:0016188 [synaptic vesicle maturation]
GO:0016192 [vesicle-mediated transport]
GO:0017075 [syntaxin-1 binding]
GO:0019901 [protein kinase binding]
GO:0019904 [protein domain specific binding]
GO:0019905 [syntaxin binding]
GO:0030141 [secretory granule]
GO:0030424 [axon]
GO:0031091 [platelet alpha granule]
GO:0031333 [negative regulation of protein-containing complex assembly]
GO:0031338 [regulation of vesicle fusion]
GO:0031630 [regulation of synaptic vesicle fusion to presynaptic active zone membrane]
GO:0032229 [negative regulation of synaptic transmission, GABAergic]
GO:0032355 [response to estradiol]
GO:0032991 [protein-containing complex]
GO:0035493 [SNARE complex assembly]
GO:0035542 [regulation of SNARE complex assembly]
GO:0042802 [identical protein binding]
GO:0043274 [phospholipase binding]
GO:0043306 [positive regulation of mast cell degranulation]
GO:0043524 [negative regulation of neuron apoptotic process]
GO:0045335 [phagocytic vesicle]
GO:0045921 [positive regulation of exocytosis]
GO:0045956 [positive regulation of calcium ion-dependent exocytosis]
GO:0047485 [protein N-terminus binding]
GO:0048471 [perinuclear region of cytoplasm]
GO:0048787 [presynaptic active zone membrane]
GO:0050821 [protein stabilization]
GO:0051402 [neuron apoptotic process]
GO:0051649 [establishment of localization in cell]
GO:0060292 [long-term synaptic depression]
GO:0070062 [extracellular exosome]
GO:0070527 [platelet aggregation]
GO:0071346 [cellular response to interferon-gamma]
GO:0072659 [protein localization to plasma membrane]
GO:0098688 [parallel fiber to Purkinje cell synapse]
GO:0098793 [presynapse]
GO:0098794 [postsynapse]
GO:0098831 [presynaptic active zone cytoplasmic component]
GO:0098888 [extrinsic component of presynaptic membrane]
GO:0098978 [glutamatergic synapse]
GO:0099523 [presynaptic cytosol]
GO:0099525 [presynaptic dense core vesicle exocytosis]
GO:0106022 [positive regulation of vesicle docking]
GO:1903296 [positive regulation of glutamate secretion, neurotransmission]
GO:2000367 [regulation of acrosomal vesicle exocytosis]
Show all
594 aa
67.6 kDa
No 0
STXBP1-202
ENSP00000362399
ENST00000373302
P61764
[Direct mapping] Syntaxin-binding protein 1
Show all
Transporters
   Transporter channels and pores
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Disease related genes
Potential drug targets
Human disease related genes
   Nervous system diseases
   Epilepsy
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000149 [SNARE binding]
GO:0002576 [platelet degranulation]
GO:0003723 [RNA binding]
GO:0005515 [protein binding]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005829 [cytosol]
GO:0005886 [plasma membrane]
GO:0006886 [intracellular protein transport]
GO:0006904 [vesicle docking involved in exocytosis]
GO:0007269 [neurotransmitter secretion]
GO:0007412 [axon target recognition]
GO:0010807 [regulation of synaptic vesicle priming]
GO:0015031 [protein transport]
GO:0016020 [membrane]
GO:0016188 [synaptic vesicle maturation]
GO:0016192 [vesicle-mediated transport]
GO:0017075 [syntaxin-1 binding]
GO:0019905 [syntaxin binding]
GO:0030141 [secretory granule]
GO:0031091 [platelet alpha granule]
GO:0031630 [regulation of synaptic vesicle fusion to presynaptic active zone membrane]
GO:0032229 [negative regulation of synaptic transmission, GABAergic]
GO:0032991 [protein-containing complex]
GO:0035493 [SNARE complex assembly]
GO:0035542 [regulation of SNARE complex assembly]
GO:0042802 [identical protein binding]
GO:0070062 [extracellular exosome]
GO:0070527 [platelet aggregation]
GO:0072659 [protein localization to plasma membrane]
GO:2000367 [regulation of acrosomal vesicle exocytosis]
Show all
603 aa
68.7 kDa
No 0
STXBP1-203
ENSP00000490199
ENST00000476182
A0A1B0GUQ2
[Direct mapping] Syntaxin-binding protein 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Epilepsy
Protein evidence (Ezkurdia et al 2014)
Show all
22 aa
2.4 kDa
No 0
STXBP1-204
ENSP00000485397
ENST00000494254
A0A096LP52
[Direct mapping] Syntaxin-binding protein 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Epilepsy
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0015031 [protein transport]
GO:0016192 [vesicle-mediated transport]
Show all
119 aa
13.6 kDa
No 0
STXBP1-205
ENSP00000485361
ENST00000496504
A0A096LP33
[Direct mapping] Syntaxin-binding protein 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Epilepsy
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0015031 [protein transport]
GO:0016192 [vesicle-mediated transport]
Show all
75 aa
8.4 kDa
No 0
STXBP1-206
ENSP00000486944
ENST00000625363
A0A0D9SFW6
[Direct mapping] Syntaxin-binding protein 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Epilepsy
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0016192 [vesicle-mediated transport]
Show all
149 aa
16.9 kDa
No 0
STXBP1-207
ENSP00000486814
ENST00000626333
A0A0D9SFQ7
[Direct mapping] Syntaxin-binding protein 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Epilepsy
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0016192 [vesicle-mediated transport]
Show all
147 aa
16.7 kDa
No 0
STXBP1-209
ENSP00000487211
ENST00000626539
A0A0D9SG72
[Direct mapping] Syntaxin-binding protein 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Epilepsy
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005654 [nucleoplasm]
GO:0005829 [cytosol]
GO:0015031 [protein transport]
GO:0016192 [vesicle-mediated transport]
Show all
580 aa
66.2 kDa
No 0
STXBP1-210
ENSP00000485895
ENST00000627871
A0A0D9SEP9
[Direct mapping] Syntaxin-binding protein 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Epilepsy
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0016192 [vesicle-mediated transport]
Show all
100 aa
11.3 kDa
No 0
STXBP1-213
ENSP00000485680
ENST00000630492
A0A0D9SEH5
[Direct mapping] Syntaxin-binding protein 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Epilepsy
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0016192 [vesicle-mediated transport]
Show all
102 aa
11.6 kDa
No 0
STXBP1-216
ENSP00000489762
ENST00000636962
A0A1B0GWF2
[Direct mapping] Syntaxin-binding protein 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Epilepsy
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005654 [nucleoplasm]
GO:0005829 [cytosol]
GO:0015031 [protein transport]
GO:0016192 [vesicle-mediated transport]
Show all
574 aa
65.2 kDa
No 0
STXBP1-218
ENSP00000490519
ENST00000637173
A0A0D9SG72
[Direct mapping] Syntaxin-binding protein 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Epilepsy
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005654 [nucleoplasm]
GO:0005829 [cytosol]
GO:0015031 [protein transport]
GO:0016192 [vesicle-mediated transport]
Show all
580 aa
66.2 kDa
No 0
STXBP1-220
ENSP00000489791
ENST00000637521
A0A1B0GTP9
[Direct mapping] Syntaxin-binding protein 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Epilepsy
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005654 [nucleoplasm]
GO:0005829 [cytosol]
GO:0015031 [protein transport]
GO:0016192 [vesicle-mediated transport]
Show all
589 aa
67.3 kDa
No 0
STXBP1-221
ENSP00000490613
ENST00000637953
A0A1B0GVQ5
[Direct mapping] Syntaxin-binding protein 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Epilepsy
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005654 [nucleoplasm]
GO:0005829 [cytosol]
GO:0015031 [protein transport]
GO:0016192 [vesicle-mediated transport]
Show all
577 aa
65.8 kDa
No 0
STXBP1-222
ENSP00000494727
ENST00000647107
A0A2R8Y5D4
[Direct mapping] Syntaxin-binding protein 1
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT-SVM predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Human disease related genes
   Nervous system diseases
   Epilepsy
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005654 [nucleoplasm]
GO:0005829 [cytosol]
GO:0015031 [protein transport]
GO:0016192 [vesicle-mediated transport]
Show all
580 aa
66 kDa
No 1
STXBP1-223
ENSP00000498834
ENST00000650920
A0A1B0GTP9
[Direct mapping] Syntaxin-binding protein 1
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Epilepsy
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005654 [nucleoplasm]
GO:0005829 [cytosol]
GO:0015031 [protein transport]
GO:0016192 [vesicle-mediated transport]
Show all
589 aa
67.3 kDa
No 0
STXBP1-224
ENSP00000515991
ENST00000704680
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Epilepsy
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0016192 [vesicle-mediated transport]
Show all
580 aa
66.2 kDa
No 0

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