gene 749 words KG: STXBP1
kind:genesection:entitiesstate:publishedtopic:neurodevelopmental-epilepsy
Contents

STXBP1

🧬 Gene Info
Gene SymbolSTXBP1
Full NameMunc18-1
Chromosome9q34.11
Protein TypeProtein
Functionis a neuronal protein essential for synaptic vesicle release and neurotransmitter secretion.
Primary Expressionnon-neuronal tissues, important for immune function
Molecular Weight66 kDa
Amino Acids594 aa
UniProt IDSearch UniProt
OMIM602926
GeneCardsSTXBP1
Human Protein AtlasSTXBP1
Genomic Coordinateschr9:127,750,000-127,870,000 (GRCh38)
Gene Length~120 kb
Number of Exons20 coding exons
Associated DiseasesALS, neurodegeneration
InteractionsSYNGAP1, DNAJC5, ERK, AND, SNAP-25, HSC70
KG Connections36 knowledge graph edges
DatabasesGeneCardsNCBI GeneHPASTRING

Knowledge Graph

Related Hypotheses (1)

Synaptic Vesicle Tau Capture Inhibition
Score: 0.34

Related Analyses (14)

Selective vulnerability of entorhinal cortex layer II neuron
neurodegeneration · archived
Digital biomarkers and AI-driven early detection of neurodeg
neurodegeneration · archived
What are the mechanisms by which gut microbiome dysbiosis in
neurodegeneration · completed
What are the mechanisms by which gut microbiome dysbiosis in
neurodegeneration · archived
Mitochondrial transfer between neurons and glia
neurodegeneration · archived

Related Experiments (5)

AAV Serotype Comparison for LRRK2 Knockdown in PD Gene Thera
validation · proposed · Score: 0.40
AAV-LRRK2 IND-Enabling Study Design
clinical · proposed · Score: 0.40
Epigenetic Dysregulation Validation in Parkinson's Disease
clinical · proposed · Score: 0.40
AAV-LRRK2 Gene Therapy IND-Enabling Study Design
clinical · proposed · Score: 0.40
Microglial Aging and Immune Memory in Neurodegeneration — Tr
validation · proposed · Score: 0.40

See Also (11)

Proteins
index · KG edge: interacts_with
Ras-MAPK Signaling Pathway in Neurodegeneration
mechanism · KG edge: inhibits
erk-mapk-signaling-neurodegeneration
mechanism · KG edge: inhibits
Aging vs Neurodegeneration: Mechanistic Comparison Matr
mechanism · KG edge: therapeutic_target
Packard Center for ALS Research
institution · KG edge: interacts_with

Knowledge Graph (12 edges)

STXBP1 inhibits SYNGAP1
STXBP1 therapeutic_target SCN1A
STXBP1 interacts_with DNAJC5
STXBP1 interacts_with Synaptic Vesicle
STXBP1 associated_with neurodegeneration
STXBP1 associated_with WWOX
STXBP1 inhibits ERK
STXBP1 therapeutic_target Aging
STXBP1 therapeutic_target Als
STXBP1 therapeutic_target Ms