Syntaxin Binding Protein 1 Proteine (STXBP1)

Bezeichnung:
Syntaxin Binding Protein 1 Proteine (STXBP1)
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Synonyme:
AI317162, AI326233, ANC18HA, fj43h10, hunc18, MGC88906, MGC146482, MMS10-G, Ms10g, Munc-18a, MUNC18-1, N-sec1, nsec1, NSEC1A, P67, Rb-sec1, RBSEC1, rbSec1A, rbSec1B, rop, Sec1, stxbp1, Sxtbp1, UNC18, Unc18-1, UNC18A, Unc18h, wu:fj36d12, wu:fj43h10, zgc:114171
alle Proteine anzeigen Gen GeneID UniProt
STXBP1 25558 P61765
STXBP1 6812 P61764
STXBP1 20910 O08599

Weitere Synonyme anzeigen

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Am meisten referenzierte Syntaxin Binding Protein 1 Proteine

  1. Human STXBP1 Protein expressed in Baculovirus infected Insect Cells - ABIN2004754 : Swanson, Steel, Valle: Identification and characterization of the human ortholog of rat STXBP1, a protein implicated in vesicle trafficking and neurotransmitter release. in Genomics 1998 (PubMed)
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Weitere Proteine zu Syntaxin Binding Protein 1 Interaktionspartnern

Human Syntaxin Binding Protein 1 (STXBP1) Interaktionspartner

  1. 9q33.3q34.11 microdeletion including STXBP1 gene identified in four patients with intellectual disability, epilepsy, nail (zeige CD244 Proteine) dysplasia and bone malformations.

  2. We report the case of a 19-month-old child with Ohtahara syndrome who displays a previously unreported mutation in STXBP1 This mutation is located in a donor splice site and eliminates exon 14, resulting in a truncated protein

  3. We conducted a cohort study to analyze STXBP1 in 42 patients with epileptic encephalopathy. We identified four novel mutations: two splicing mutations, a frameshift mutation, and a nonsense mutation.

  4. Reduced expression of STXBP1 leads to changes in the expression and localization of syntaxin-1 (zeige STX1A Proteine) in pluripotent stem cells from epileptic encephalopathy patient.

  5. Seizure severity and intellectual disability were connected to STXBP1 encephalopathy patients.

  6. partial STXBP1 loss of function robustly impairs neurotransmitter release in human neurons, and suggest that heterozygous STXBP1 mutations cause early epileptic encephalopathy specifically through a presynaptic impairment.

  7. The case described suggests a relationship between the Rett syndrome and the STXBP1 gene not described so far, making the search for STXBP1 gene mutations advisable in patients with Rett syndrome and early onset of epilepsy.

  8. A de novo mutation in STXBP1 was detected with exome sequencing together with profound impairment of complex I of the mitochondrial respiratory chain on muscle biopsy. Findings implicate a secondary impairment of mitochondrial function.

  9. Epileptic encephalopathy related to mutations in the STXBP1 genes.

  10. In vitro interaction assays indicated that Doc2b (zeige DOC2B Proteine) is required to bridge the interaction between Munc18c (zeige STXBP3 Proteine) and Munc18-1 in the macromolecular complex; Munc18c (zeige STXBP3 Proteine) and Munc18-1 failed to associate in the absence of Doc2b (zeige DOC2B Proteine)

Mouse (Murine) Syntaxin Binding Protein 1 (STXBP1) Interaktionspartner

  1. proteins, such as syntaxin-1, Munc18-1, or SNAP-25, modulate alpha-synuclein neuropathy and/or are dysregulated in Alzheimer's disease, understanding this type of neurodegeneration may provide new links between synaptic defects and neurodegeneration in humans

  2. This results of study concluded that a conformational change within helix 12 is responsible for the essential postdocking role of Munc18-1 in neurosecretion.

  3. In this studying the Munc18-1-/- nervous system, we demonstrate that synaptic activity is dispensable for the early formation of spinal motor circuits at the levels of axon guidance, differentiation of transcriptional identity, and mRNA expression.

  4. Vamp2 (zeige VAMP2 Proteine) mutations that impair Munc18-1 binding inhibit spontaneous as well as evoked neurotransmitter release, providing evidence for the Vamp2 (zeige VAMP2 Proteine)-regulating function of Munc18-1 in synaptic exocytosis.

  5. A dynamic PKC phosphorylation/de-phosphorylation cycle of Munc18-1 drives short-term enhancement of transmitter release during post-tetanic potentiation.

  6. miR-218 and miR-322 directly interact with Stxbp1 by targeting the 3'UTR of its mRNA.

  7. Munc18-1 levels correlate with synaptic strength.

  8. Syntaxin binding protein 1 is not required for allergic inflammation via IgE-mediated mast cell activation.

  9. [review] Regulation of cortical F-actin is a shared function of Sec1/Munc18-like proteins; a way to gain more insight in the molecular mechanism underlying the Munc18-1-mediated cortical F-actin regulation is proposed.

  10. The N-terminal syntaxin-1 (zeige STX1A Proteine) domains mediate different functions in synaptic vesicle fusion, probably via formation of distinct Munc18/SNARE (zeige VTI1B Proteine)-protein complexes.

Zebrafish Syntaxin Binding Protein 1 (STXBP1) Interaktionspartner

  1. Epilepsy, Behavioral Abnormalities, and Physiological Comorbidities in Syntaxin-Binding Protein 1 (STXBP1) Mutant Zebrafish.

Syntaxin Binding Protein 1 (STXBP1) Protein Überblick

Protein Überblick

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.

Alternative names and synonyms associated with Syntaxin Binding Protein 1 (STXBP1)

  • syntaxin binding protein 1 (stxbp1)
  • syntaxin binding protein 1 (Tb09.160.0780)
  • syntaxin binding protein 1 (STXBP1)
  • syntaxin binding protein 1 (Stxbp1)
  • syntaxin binding protein 1a (stxbp1a)
  • AI317162 Protein
  • AI326233 Protein
  • ANC18HA Protein
  • fj43h10 Protein
  • hunc18 Protein
  • MGC88906 Protein
  • MGC146482 Protein
  • MMS10-G Protein
  • Ms10g Protein
  • Munc-18a Protein
  • MUNC18-1 Protein
  • N-sec1 Protein
  • nsec1 Protein
  • NSEC1A Protein
  • P67 Protein
  • Rb-sec1 Protein
  • RBSEC1 Protein
  • rbSec1A Protein
  • rbSec1B Protein
  • rop Protein
  • Sec1 Protein
  • stxbp1 Protein
  • Sxtbp1 Protein
  • UNC18 Protein
  • Unc18-1 Protein
  • UNC18A Protein
  • Unc18h Protein
  • wu:fj36d12 Protein
  • wu:fj43h10 Protein
  • zgc:114171 Protein

Bezeichner auf Proteinebene für STXBP1

syntaxin binding protein 1 , Ras opposite , syntaxin-binding protein 1-like , p67 , protein unc-18 homolog 1 , protein unc-18 homolog A , syntaxin-binding protein 1 , unc-18 homolog , unc-18-1 , unc-18A , N-Sec1 , neuronal SEC1 , unc18-1 , UNC-18 homolog , minisatellite 10g detected by probe MMS10 , syntaxin 1-binding protein

GENE ID SPEZIES
448217 Xenopus (Silurana) tropicalis
779976 Xenopus (Silurana) tropicalis
3660246 Trypanosoma brucei TREU927
100397821 Callithrix jacchus
25558 Rattus norvegicus
6812 Homo sapiens
20910 Mus musculus
404293 Gallus gallus
282378 Bos taurus
100101272 Xenopus laevis
100173563 Pongo abelii
574003 Danio rerio
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