CKDdb-logoCKDdb - Molecule ID A473F

geneBBS4
nameBardet-Biedl syndrome 4 protein
speciesHomo sapiens

Molecule reference

SwissProtUniProtEnsEMBLGeneIDUniGeneOMIM
BBS4_HUMANQ96RK4ENSG00000140463585Hs.208681209900, 600374

Functions and classifications

GOC:BBSome, C:centriolar satellite, C:centriole, C:ciliary membrane, C:microtubule basal body, C:motile cilium, C:nonmotile primary cilium, C:pericentriolar material, F:alpha-tubulin binding, F:beta-tubulin binding, F:dynactin binding, F:microtubule motor activity, P:adult behavior, P:brain morphogenesis, P:centrosome organization, P:cerebral cortex development, P:convergent extension involved in gastrulation, P:dendrite development, P:fat cell differentiation, P:heart looping, P:hippocampus development, P:intracellular transport, P:maintenance of protein location in nucleus, P:melanosome transport, P:microtubule anchoring at centrosome, P:mitotic cytokinesis, P:negative regulation of appetite by leptin-mediated signaling pathway, P:negative regulation of gene expression, P:negative regulation of systemic arterial blood pressure, P:neural tube closure, P:nonmotile primary cilium assembly, P:photoreceptor cell maintenance, P:pigment granule aggregation in cell center, P:positive regulation of cilium assembly, P:positive regulation of multicellular organism growth, P:protein localization to centrosome, P:protein transport, P:regulation of cilium beat frequency involved in ciliary motility, P:regulation of cytokinesis, P:regulation of lipid metabolic process, P:retinal rod cell development, P:sensory perception of smell, P:sensory processing, P:spermatid development, P:striatum development, P:visual perception, C:cilium membrane, C:nucleus, P:cell cycle cytokinesis, P:positive regulation of flagellum assembly, P:retina homeostasis, C:centrosome, P:microtubule cytoskeleton organization, P:protein localization to organelle
UniProtAlternative splicing, Bardet-Biedl syndrome, Cell membrane, Cell projection, Ciliopathy, Cilium, Cilium biogenesis/degradation, Complete proteome, Cytoplasm, Cytoskeleton, Disease mutation, Membrane, Mental retardation, Obesity, Polymorphism, Protein transport, Reference proteome, Repeat, Sensory transduction, TPR repeat, Transport, Vision
PADBCell shape (cytoskeleton, cell adhesion, morphology, cell junction, cellular structures, extracellular matrix)

Studies, tissues and diseases

Study IDSpeciesNTissue / SourceCompartmentDiseaseFold change in diseaseP-valueDetectionPubMed/DOI
Exp19698090bHomo sapiens25bloodmononuclear cellsDialysis (hemodialysis)0.460.00109RNA microarray19698090
Exp24172336Mus musculus6kidneycortexAKI (AKI)10000.0062007LC-MS/MS24172336

Compile date 08-10-2018© iMODE-CKD consortium