SPG11 vesicle trafficking associated, spatacsin

Summary
Gene Symbol
  • SPG11
Organism
Homo sapiens (human)
NCBI Gene
80208
PubChem
80208
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Amyotrophic lateral sclerosis
  • Cell projection
  • Charcot-Marie-Tooth disease
  • Cytoplasm
  • Hereditary spastic paraplegia
  • Nucleus
  • Phosphoprotein
  • Reference proteome
Proteins
Displaying 1 entry
UniProt Protein Name
Q96JI7
  • Colorectal carcinoma-associated protein
  • Spastic paraplegia 11 protein
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
spatacsin
Functional Category
  • K: Transcription
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
Displaying all 2 entries
Gene Ontology
axo-dendritic transport
chemical synaptic transmission
Displaying all 2 entries
InterPro
Spatacsin, C-terminal domain
Spatacsin
Disease
Disease Ontology
Displaying all 3 entries
DO ID Disease Name Source
DOID:0060197 amyotrophic lateral sclerosis type 5
DOID:0110176 Charcot-Marie-Tooth disease axonal type 2X
DOID:0110764 hereditary spastic paraplegia 11

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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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