STX3

The gene is a member of the syntaxin family. The encoded protein is targeted to the apical membrane of epithelial cells where it forms clusters and is important in establishing and maintaining polarity necessary for protein trafficking involving vesicle fusion and exocytosis. Alternative splicing results in multiple transcript variants.

Full Name

Syntaxin 3

Function

Potentially involved in docking of synaptic vesicles at presynaptic active zones. Apical receptor involved in membrane fusion of apical vesicles.
Isoform B
Essential for survival of retinal photoreceetors.
Isoform 3
Functions as a regulator of gene expression.

Biological Process

Biological Process exocytic insertion of neurotransmitter receptor to postsynaptic membraneManual Assertion Based On ExperimentIBA:GO_Central
Biological Process exocytosisManual Assertion Based On ExperimentIBA:GO_Central
Biological Process intracellular protein transportManual Assertion Based On ExperimentIBA:GO_Central
Biological Process long-term synaptic potentiationIEA:Ensembl
Biological Process neuron projection developmentISS:HGNC-UCL
Biological Process organelle membrane fusionManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process positive regulation of cell adhesionManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process positive regulation of cell population proliferationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process positive regulation of chemotaxisManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process positive regulation of protein localization to cell surfaceManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process positive regulation of protein localization to plasma membraneManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process regulation of gene expressionManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process synaptic vesicle fusion to presynaptic active zone membraneManual Assertion Based On ExperimentIBA:GO_Central
Biological Process vesicle dockingManual Assertion Based On ExperimentIBA:GO_Central
Biological Process vesicle fusionManual Assertion Based On ExperimentIBA:GO_Central

Cellular Location

Isoform A
Apical cell membrane
Localized to the inner and outer plexiform layers, the cell body and the inner segments of photoreceptors.
Isoform 3
Nucleus

Involvement in disease

Retinal dystrophy and microvillus inclusion disease (RDMVID):
An autosomal recessive disease characterized by early-onset, severe retinal dystrophy associated with intractable congenital diarrhea. Intestinal biopsies show loss of microvilli, microvillus inclusions, and accumulation of subapical vesicles in villus enterocytes.
Diarrhea 12, with microvillus atrophy (DIAR12):
An autosomal recessive congenital enteropathy characterized by intractable secretory diarrhea, resulting in severe dehydration and metabolic acidosis. DIAR12 can be diagnosed based on variable loss of brush-border microvilli, microvillus inclusions, and accumulation of subapical vesicles in villus enterocytes.

Topology

Cytoplasmic: 1-263
Helical: 264-284
Extracellular: 285-289