STX1B Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
STX1B
Official Name
syntaxin 1B [Source:HGNC Symbol;Acc:HGNC:18539]
Ensembl ID
ENSG00000099365
Bio databases IDs NCBI: 112755 Ensembl: ENSG00000099365
Aliases syntaxin 1B
Synonyms GEFSP9, LOC100129076, STX1B1, STX1B2, Stx1bl, Stx2, Syn1b, syntaxin 1B
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human STX1B often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • SynN
  • protein kinase binding
  • cytoplasmic domain
  • SNARE domain
  • Helical region found in SNAREs
  • Syntaxin
  • protein domain specific binding
  • protein binding
  • receptor binding
  • SNARE motif

Pathways

Biological processes and signaling networks where the STX1B gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • Parkinson disease
  • generalized epilepsy with febrile seizures plus type 9
  • psoriasis
  • hereditary disorder
  • neuroticism
  • generalized epilepsy with febrile seizures plus
  • neurodevelopmental disorder
  • generalized epilepsy
regulated by
regulates
  • neurotransmitter
  • L-glutamic acid
  • SNARE
  • STX1B
role in cell
  • cell viability
  • assembly in
  • priming
  • docking
  • abnormal morphology
  • exocytosis by
  • turnover
  • exocytosis
  • abnormal quantity
  • recycling

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • intracellular membrane fractions
  • membrane fraction
  • Cytoplasm
  • presynaptic regions
  • cellular membrane
  • Nucleus
  • centrosome
  • cytosol
  • presynaptic membrane
  • nucleoplasm
  • nuclear lamina
  • neuromuscular junctions
  • transport vesicles
  • axons
  • clathrin-coated vesicles

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human STX1B gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • intracellular protein transport
  • synaptic vesicle docking involved in exocytosis
  • calcium ion-dependent exocytosis of neurotransmitter
  • regulation of synaptic vesicle priming
  • vesicle fusion
  • negative regulation of neuron projection development
  • vesicle docking
  • vesicle docking involved in exocytosis
  • synaptic vesicle fusion to presynaptic membrane
  • positive regulation of neurotransmitter secretion
  • regulation of gene expression
  • positive regulation of excitatory postsynaptic membrane potential

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • centrosome
  • membrane
  • spindle
  • endomembrane system
  • SNARE complex
  • cytosol
  • neuromuscular junction
  • axon
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • protein kinase binding
  • protein binding
  • SNAP receptor activity
  • SNARE binding
  • receptor binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.