Gene description for BBS4
Gene name Bardet-Biedl syndrome 4
Gene symbol BBS4
Other names/aliases -
Species Homo sapiens
 Database cross references - BBS4
ExoCarta ExoCarta_585
Entrez Gene 585
HGNC 969
MIM 600374
UniProt Q96RK4  
 BBS4 identified in exosomes derived from the following tissue/cell type
Neuroblastoma cells 25944692    
 Gene ontology annotations for BBS4
Molecular Function
    beta-tubulin binding GO:0048487 IDA
    microtubule motor activity GO:0003777 IMP
    alpha-tubulin binding GO:0043014 IDA
    RNA polymerase II repressing transcription factor binding GO:0001103 IPI
    dynactin binding GO:0034452 IDA
    protein binding GO:0005515 IPI
Biological Process
    positive regulation of multicellular organism growth GO:0040018 IEA
    protein localization to centrosome GO:0071539 IMP
    dendrite development GO:0016358 ISS
    intracellular transport GO:0046907 ISS
    sensory perception of smell GO:0007608 ISS
    hippocampus development GO:0021766 ISS
    protein localization to cilium GO:0061512 IMP
    centrosome organization GO:0051297 IMP
    maintenance of protein location in nucleus GO:0051457 IGI
    negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 ISS
    regulation of lipid metabolic process GO:0019216 ISS
    visual perception GO:0007601 IEA
    regulation of cilium beat frequency involved in ciliary motility GO:0060296 ISS
    cilium assembly GO:0042384 ISS
    melanosome transport GO:0032402 ISS
    photoreceptor cell maintenance GO:0045494 ISS
    negative regulation of gene expression GO:0010629 IEA
    positive regulation of cilium assembly GO:0045724 ISS
    cerebral cortex development GO:0021987 ISS
    protein transport GO:0015031 IEA
    striatum development GO:0021756 ISS
    adult behavior GO:0030534 ISS
    brain morphogenesis GO:0048854 ISS
    retina homeostasis GO:0001895 ISS
    microtubule anchoring at centrosome GO:0034454 IMP
    regulation of cytokinesis GO:0032465 IMP
    heart looping GO:0001947 ISS
    fat cell differentiation GO:0045444 ISS
    mitotic cytokinesis GO:0000281 IMP
    retinal rod cell development GO:0046548 ISS
    spermatid development GO:0007286 ISS
    microtubule cytoskeleton organization GO:0000226 ISS
    nonmotile primary cilium assembly GO:0035058 ISS
    metabolic process GO:0008152 IMP
    negative regulation of systemic arterial blood pressure GO:0003085 IEA
    organelle organization GO:0006996 TAS
    protein localization to organelle GO:0033365 ISS
    sensory processing GO:0050893 TAS
    cilium morphogenesis GO:0060271 ISS
    neural tube closure GO:0001843 ISS
Subcellular Localization
    ciliary transition zone GO:0035869 IDA
    nonmotile primary cilium GO:0031513 IDA
    centriolar satellite GO:0034451 IDA
    cytosol GO:0005829 TAS
    BBSome GO:0034464 IDA
    motile cilium GO:0031514 IDA
    centriole GO:0005814 IDA
    centrosome GO:0005813 IDA
    cilium GO:0005929 IDA
    ciliary basal body GO:0036064 IDA
    ciliary membrane GO:0060170 IDA
    pericentriolar material GO:0000242 IDA
    nucleus GO:0005634 IGI
 Experiment description of studies that identified BBS4 in exosomes
1
Experiment ID 224
ISEV standards
EM|AFM
EV Biophysical techniques
Alix|TSG101
EV Cytosolic markers
CD63|CD81
EV Membrane markers
GOLGA2
EV Negative markers
EV Particle analysis
Identified molecule protein
Identification method Mass spectrometry
PubMed ID 25944692    
Organism Homo sapiens
Experiment description Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes
Authors Keerthikumar S, Gangoda L, Liem M, Fonseka P, Atukorala I, Ozcitti C, Mechler A, Adda CG, Ang CS, Mathivanan S
Journal name Oncotarget
Publication year 2015
Sample Neuroblastoma cells
Sample name SH-SY5Y
Isolation/purification methods Differential centrifugation
Ultracentrifugation
OptiPrep density gradient
Flotation density 1.10 g/mL
Molecules identified in the study Protein
Methods used in the study Mass spectrometry
Western blotting
 Protein-protein interactions for BBS4
  Protein Interactor ExoCarta ID Identification method PubMed Species
1 DCTN1 1639
Affinity Capture-Western Homo sapiens
Two-hybrid Homo sapiens
2 PCM1  
Two-hybrid Homo sapiens
Affinity Capture-MS Homo sapiens
View the network image/svg+xml
 Pathways in which BBS4 is involved
PathwayEvidenceSource
BBSome-mediated cargo-targeting to cilium TAS Reactome





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