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The protein encoded by this gene belongs to a family of proteins thought to play a role in the exocytosis of synaptic vesicles. Vesicle exocytosis releases vesicular contents and is important to various cellular functions. For instance, the secretion of transmitters from neurons plays an important role in synaptic transmission. After exocytosis, the membrane and proteins from the vesicle are retrieved from the plasma membrane through the process of endocytosis. Mutations in this gene have been identified as one cause of fever-associated epilepsy syndromes. A possible link between this gene and Parkinson's disease has also been suggested. [provided by RefSeq, Jan 2015]
STX1B (Syntaxin 1B) is a Protein Coding gene. Diseases associated with STX1B include Generalized Epilepsy With Febrile Seizures Plus, Type 9 and Generalized Epilepsy With Febrile Seizures Plus. Among its related pathways are Synaptic vesicle cycle and LGI-ADAM interactions. Gene Ontology (GO) annotations related to this gene include protein kinase binding and SNARE binding. An important paralog of this gene is STX1A.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000149 | SNARE binding | IBA | 21873635 |
GO:0005102 | signaling receptor binding | IEA | -- |
GO:0005484 | SNAP receptor activity | IBA | 21873635 |
GO:0019901 | protein kinase binding | ISS | -- |
GO:0019904 | protein domain specific binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005815 | microtubule organizing center | IEA | -- |
GO:0005819 | spindle | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Uptake and actions of bacterial toxins | ||
2 | Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics | ||
3 | Synaptic vesicle cycle | ||
4 | HIV Life Cycle |
.45
|
|
5 | Sertoli-Sertoli Cell Junction Dynamics |
Epithelial Tight Junctions
.36
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001956 | positive regulation of neurotransmitter secretion | ISS | -- |
GO:0006836 | neurotransmitter transport | IEA | -- |
GO:0006886 | intracellular protein transport | IBA | 21873635 |
GO:0006887 | exocytosis | IBA | 21873635 |
GO:0006904 | vesicle docking involved in exocytosis | ISS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Warfarin | Approved | Pharma | 609 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | STX1B 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | STX1B 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | STX1B 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | STX1B 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Stx1b 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Stx1b 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
Lizard (Anolis carolinensis) |
Reptilia | STX1B 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | stx1b 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | stx1b 30 31 |
|
OneToOne | |
syntaxin1b 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.12062 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Syx1A 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | unc-64 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
639992 | Uncertain Significance: Generalized epilepsy with febrile seizures plus, type 9 | 31,001,136(-) | T/G | MISSENSE_VARIANT | |
645332 | Uncertain Significance: Generalized epilepsy with febrile seizures plus, type 9 | 30,996,946(-) | C/G | INTRON_VARIANT | |
646154 | Uncertain Significance: Generalized epilepsy with febrile seizures plus, type 9 | 31,010,396(-) | T/C | INITIATIOR_CODON_VARIANT,MISSENSE_VARIANT | |
646551 | Likely Pathogenic: Generalized epilepsy with febrile seizures plus, type 9 | 30,997,501(-) | C/T | SPLICE_DONOR_VARIANT | |
653738 | Uncertain Significance: Generalized epilepsy with febrile seizures plus, type 9 | 30,992,840(-) | C/A | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
generalized epilepsy with febrile seizures plus, type 9 |
|
|
generalized epilepsy with febrile seizures plus |
|
|
visual epilepsy |
|
|
febrile seizures |
|
|
epilepsy |
|
|