syntaxin binding protein 1

Summary
Gene Symbol
  • STXBP1
Organism
Homo sapiens (human)
NCBI Gene
6812
PubChem
6812
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Cytoplasm
  • Disease variant
  • Epilepsy
  • Intellectual disability
  • Membrane
  • Phosphoprotein
  • Protein transport
  • Reference proteome
Proteins
Displaying 1 entry
UniProt Protein Name
P61764
  • MUNC18-1
  • N-Sec1
  • Protein unc-18 homolog 1
  • Protein unc-18 homolog A
  • p67
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
syntaxin binding
Functional Category
  • M: Cell wall/membrane/envelope biogenesis
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying all 6 entries
DO ID Disease Name Source
DOID:0050562 West syndrome
DOID:0050709 early infantile epileptic encephalopathy
DOID:0080436 developmental and epileptic encephalopathy 4
DOID:0112202 developmental and epileptic encephalopathy
DOID:1574 alcohol use disorder
DOID:1826 epilepsy

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024