DEP domain containing 5, GATOR1 subcomplex subunit

Summary
Gene Symbol
  • DEPDC5
Organism
Homo sapiens (human)
NCBI Gene
9681
PubChem
9681
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Cytoplasm
  • Disease variant
  • Epilepsy
  • GTPase activation
  • Intellectual disability
  • Lysosome
  • Membrane
  • Phosphoprotein
  • Reference proteome
  • Ubl conjugation
Proteins
Displaying 1 entry
UniProt Protein Name
O75140
  • DEP domain-containing protein 5
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
Dep domain-containing protein
Functional Category
  • E: Amino acid transport and metabolism
  • M: Cell wall/membrane/envelope biogenesis
  • Q: Secondary metabolites biosynthesis, transport and catabolism
Disease
Disease Ontology
Displaying all 6 entries
DO ID Disease Name Source
DOID:0081421 familial focal epilepsy with variable foci 1
DOID:0081423 familial focal epilepsy with variable foci 3
DOID:0112202 developmental and epileptic encephalopathy
DOID:162 cancer
DOID:1826 epilepsy
DOID:2234 focal 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