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BBS1

Description Bardet-Biedl syndrome 1
Image
GO Annotations Cellular Component
  • Centrosome
  • Cytosol
  • Axoneme
  • BBSome
  • Ciliary Basal Body
  • Ciliary Membrane
Molecular Function
  • Patched Binding
  • Smoothened Binding
  • Protein Binding
  • RNA Polymerase II-specific DNA-binding Transcription Factor Binding
Biological Process
  • Visual Perception
  • Sensory Perception Of Smell
  • Golgi To Plasma Membrane Protein Transport
  • Photoreceptor Cell Maintenance
  • Response To Stimulus
  • Cilium Assembly
  • Protein Localization To Cilium
  • Non-motile Cilium Assembly
Pathways
  • BBSome-mediated cargo-targeting to cilium
Drugs
Diseases
GWAS
  • Bipolar disorder ( 21926972)
  • Height ( 28552196)
Interacting Genes 19 interacting genes: ACTN3 ATP6AP2 BAD BAK1 BHMT CALCA DCTN1 EEF1A1 EIF3A EPAS1 EXOC7 FHOD1 HSCB KRT18 PARK7 PAX2 PEPD POLR2G TSPAN7
Entrez ID 582
HPRD ID 01950
Ensembl ID ENSG00000174483
Uniprot IDs Q8NFJ9
PDB IDs 6XT9
Enriched GO Terms of Interacting Partners?
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© Madhavi K. Ganapathiraju 2012-2025