Bardet-Biedl syndrome 4

Symbol

BBS4 (may also be known as: None)

Organism

Human

Description

This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein "BBSome" complex with six other BBS proteins. Alternative splice variants have been described but their predicted protein products have not been experimentally verified.[provided by RefSeq, Jan 2009]

Orthologs

SymbolSpecies
F58A4.14 Caenorhabditis elegans
BBS4 Drosophila melanogaster
bbs4 Danio rerio
Bbs4 Mus musculus
Bbs4 Rattus norvegicus

Links to external resources

Changes associated with this gene

Identifier Name Type Tissues Organism Gene Data Actions
DAA3006 Gene expression of BBS4 increases with age Molecular skin Human BBS4 —

GO Terms

GO IDGO TermGO Category
GO:0000226 microtubule cytoskeleton organization biological_process
GO:0001843 neural tube closure biological_process
GO:0001895 retina homeostasis biological_process
GO:0001947 heart looping biological_process
GO:0007286 spermatid development biological_process
GO:0007608 sensory perception of smell biological_process
GO:0016358 dendrite development biological_process
GO:0019216 regulation of lipid metabolic process biological_process
GO:0021756 striatum development biological_process
GO:0021766 hippocampus development biological_process
GO:0021987 cerebral cortex development biological_process
GO:0030534 adult behavior biological_process
GO:0032099 negative regulation of appetite biological_process
GO:0032402 melanosome transport biological_process
GO:0032465 regulation of cytokinesis biological_process
GO:0033205 cell cycle cytokinesis biological_process
GO:0033210 leptin-mediated signaling pathway biological_process
GO:0033365 protein localization to organelle biological_process
GO:0034454 microtubule anchoring at centrosome biological_process
GO:0035058 nonmotile primary cilium assembly biological_process
GO:0042384 cilium assembly biological_process
GO:0045444 fat cell differentiation biological_process
GO:0045494 photoreceptor cell maintenance biological_process
GO:0045724 positive regulation of flagellum assembly biological_process
GO:0046548 retinal rod cell development biological_process
GO:0046907 intracellular transport biological_process
GO:0048854 brain morphogenesis biological_process
GO:0050893 sensory processing biological_process
GO:0050896 response to stimulus biological_process
GO:0051297 centrosome organization biological_process
GO:0051457 maintenance of protein location in nucleus biological_process
GO:0051877 pigment granule aggregation in cell center biological_process
GO:0060027 convergent extension involved in gastrulation biological_process
GO:0060271 cilium morphogenesis biological_process
GO:0060296 regulation of cilium beat frequency involved in ciliary motility biological_process
GO:0000242 pericentriolar material cellular_component
GO:0005622 intracellular cellular_component
GO:0005634 nucleus cellular_component
GO:0005737 cytoplasm cellular_component
GO:0005813 centrosome cellular_component
GO:0005814 centriole cellular_component
GO:0005856 cytoskeleton cellular_component
GO:0005886 plasma membrane cellular_component
GO:0005932 microtubule basal body cellular_component
GO:0031513 nonmotile primary cilium cellular_component
GO:0031514 motile cilium cellular_component
GO:0034451 centriolar satellite cellular_component
GO:0034464 BBSome cellular_component
GO:0060170 cilium membrane cellular_component
GO:0003777 microtubule motor activity molecular_function
GO:0005488 binding molecular_function
GO:0005515 protein binding molecular_function
GO:0034452 dynactin binding molecular_function
GO:0043014 alpha-tubulin binding molecular_function
GO:0048487 beta-tubulin binding molecular_function