STX1A is a protein that in humans is encoded by the STX1A gene. It is a member of the syntaxin superfamily. Syntaxins are nervous system-specific proteins implicated in the docking of synaptic vesicles with the presynaptic plasma membrane. Syntaxins bind synaptotagmin in a calcium-dependent fashion and interact with voltage-dependent calcium and potassium channels via the C-terminal H3 domain. STX1A is a key protein in ion channel regulation and synaptic exocytosis. STX1A is involved in neurotransmitter release and synaptic vesicle docking, as an essential factor for neurotransmission. It also interacts with serotonin and alters its subcellular localization and expression. The gene STX1A consists of 10 exons spanning a 20.42 kb region.
Basic Information of STX1A | |
Protein Name | Syntaxin-1A |
Gene Name | STX1A |
Aliases | Neuron-specific antigen HPC-1, STX1 |
Organism | Homo sapiens (Human) |
UniProt ID | Q16623 |
Transmembrane Times | 1 |
Length (aa) | 288 |
Sequence | MKDRTQELRTAKDSDDDDDVAVTVDRDRFMDEFFEQVEEIRGFIDKIAENVEEVKRKHSAILASPNPDEKTKEELEELMSDIKKTANKVRSKLKSIEQSIEQEEGLNRSSADLRIRKTQHSTLSRKFVEVMSEYNATQSDYRERCKGRIQRQLEITGRTTTSEELEDMLESGNPAIFASGIIMDSSISKQALSEIETRHSEIIKLENSIRELHDMFMDMAMLVESQGEMIDRIEYNVEHAVDYVERAVSDTKKAVKYQSKARRKKIMIIICCVILGIVIASTVGGIFA |
STX1A lies on 7q11.23, a locus that has been reported to be duplicated in some individuals with autism, and associated with deletions in Williams syndrome. Three single nucleotide polymorphisms (SNPs) (rs2293485 and rs4717806 in the Caucasian population, and rs69510130 in the Japanese population) are nominally associated with high functioning autism. STX1A contributes primarily to the regulation of neuromodulatory systems, such as monoamines, rather than fast synaptic transmission, such as glutamate or GABA. Additionally, mice lacking STX1A function exhibited impairment of glucose-induced insulin release from pancreatic b-cells. Thus, it is considered that a lack of STX1A might induce impairment of exocytosis of dense-core vesicles, which contain peptides or monoamines. In addition to synaptic vesicle exocytosis, STX1 may be required for the development and survival of neurons. Furthermore, STX1 may be essential for embryonic viability.
Fig.1 Structure of the STX1A protein.
This study revealed a significant association between rs4717806 and rs941298 in STX1A gene and Asperger syndrome (AS).
Previous results suggested STX1A and STX1B may have similar functions in exocytosis of synaptic vesicles. However, this research indicated that STX1A and STX1B may exert different function in supporting neuronal survival.
This study is conducted to investigate the association between genetic variants in the STX1A gene and common forms of migraine and the results showed that STX1A is a susceptibility gene for migraine.
The investigation implied that STX1A inhibition could induce dysfunction of the HPA axis, resulting in abnormal behavioral properties, such as abnormal responses to stress stimuli.
This research showed that STX1A expression in the autism group was significantly lower than that of the control group, suggesting STX1A is a candidate gene in autism.
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