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QuickView for BBS4;jsessionid=14697F989835C85707DA86A2087BF058 (gene)


Gene Symbol:
BBS4 Homo sapiens Homo sapiens
Full name:
Bardet-Biedl syndrome 4
Synonyms:
Bardet-Biedl syndrome 4 protein
Genomic Location:
Chr 15: 70765588-70817869
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 cognitive disability. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited b...
Orthologs:
Mus musculus Rattus norvegicus D. melanogaster C. elegans Macaca mulatta Gallus gallus Pan troglodytes Canis lupus familiaris Bos taurus Danio rerio
External Links:
Entrez Gene
Transcription Factor
Binding Sites:
Cytogenetic Map:
chr 15
15q24.1





GO Molecular Function

repressing transcription factor binding | alpha-tubulin binding | microtubule motor activity | hydrolase activity | pyrophosphatase activity | catalytic activity | beta-tubulin binding | cytoskeletal protein binding | motor activity | RNA polymerase II repressing transcription factor binding | nucleoside-triphosphatase activity | protein binding | transcription factor binding | dynactin binding | RNA polymerase II transcription factor binding | hydrolase activity, acting on acid anhydrides | tubulin binding | hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides

GO Biological Process

mitotic cytokinesis | response to extracellular stimulus | maintenance of protein location in nucleus | adipose tissue development | brain development | regulation of supramolecular fiber organization | regulation of cell cycle process | response to nutrient levels | response to cytokine | positive regulation of cellular component organization | cell motility | developmental process involved in reproduction | regulation of localization | subpallium development | morphogenesis of an epithelium | eye development | hippocampus development | establishment of localization | response to hormone | protein localization to centrosome | neuron migration | negative regulation of cellular process | positive regulation of developmental process | social behavior | regulation of non-motile cilium assembly | microtubule cytoskeleton organization | cell differentiation | male gamete generation | nervous system development | regulation of microtubule-based movement | neurogenesis | regulation of organelle organization | regulation of actin polymerization or depolymerization | generation of neurons | tissue homeostasis | intracellular transport | microtubule-based process | pattern specification process | cellular process | establishment of organelle localization | regulation of cilium movement | regulation of cell motility | localization | epithelial tube morphogenesis | protein transport | heart morphogenesis | neuron development | determination of left/right symmetry | cytoskeleton-dependent cytokinesis | multicellular organismal reproductive process | pigment granule transport | macromolecule localization | microtubule organizing center organization | regulation of cell cycle | regulation of multicellular organism growth | sensory processing | regulation of appetite | retinal rod cell development | establishment of localization in cell | tissue development | gamete generation | anatomical structure homeostasis | regulation of cellular process | regulation of metabolic process | regulation of protein complex assembly | organelle localization | epithelium development | negative regulation of appetite | cellular component organization | regulation of cell division | ventricular system development | regulation of actin filament length | head development | response to stimulus | embryonic epithelial tube formation | determination of heart left/right asymmetry | regulation of cilium assembly | germ cell development | multicellular organismal homeostasis | photoreceptor cell outer segment organization | tube morphogenesis | protein localization to nucleus | epithelial tube formation | reproduction | cellular localization | maintenance of protein localization in organelle | blood circulation | brain morphogenesis | negative regulation of metabolic process | regulation of cellular component size | spermatid differentiation | cellular component assembly | melanosome localization | positive regulation of multicellular organism growth | embryo development | eye photoreceptor cell differentiation | negative regulation of blood pressure | locomotion | organelle assembly | cellular response to hormone stimulus | regulation of cell projection assembly | system development | reproductive process | positive regulation of organelle organization | regulation of actin cytoskeleton organization | multicellular organism development | negative regulation of catalytic activity | cell migration | positive regulation of organelle assembly | regulation of actin filament organization | regulation of catalytic activity | protein localization to non-motile cilium | regulation of actomyosin structure organization | telencephalon development | determination of bilateral symmetry | regulation of gene expression | neural tube closure | organic substance transport | nervous system process | regulation of response to food | cell cycle | regulation of blood pressure | cell projection assembly | embryonic heart tube morphogenesis | regulation of systemic arterial blood pressure | negative regulation of actin filament polymerization | animal organ morphogenesis | striatum development | positive regulation of cell projection organization | peptide transport | cytokine-mediated signaling pathway | neural tube formation | regulation of cellular component movement | fat cell differentiation | pigmentation | protein localization to organelle | cognition | cellular response to cytokine stimulus | establishment of vesicle localization | cell division | neural tube development | negative regulation of appetite by leptin-mediated signaling pathway | regulation of cilium beat frequency involved in ciliary motility | cytokinesis | heart looping | regulation of GTPase activity | leptin-mediated signaling pathway | sensory organ development | microtubule anchoring at microtubule organizing center | maintenance of protein location | chordate embryonic development | cell communication | eye morphogenesis | regulation of cytokinesis | regulation of actin filament polymerization | heart development | homeostatic process | limbic system development | regulation of locomotion | embryo development ending in birth or egg hatching | eye photoreceptor cell development | cerebral cortex development | establishment of melanosome localization | embryonic morphogenesis | regulation of microtubule-based process | neuron differentiation | multicellular organism reproduction | embryonic organ morphogenesis | negative regulation of protein polymerization | negative regulation of response to food | regulation of growth | response to organic substance | tissue morphogenesis | centrosome cycle | response to leptin | embryonic heart tube development | anatomical structure development | mitotic cell cycle | cell surface receptor signaling pathway | cell projection organization | protein localization to photoreceptor outer segment | fat pad development | visual perception | embryonic organ development | negative regulation of cytoskeleton organization | cellular protein localization | amide transport | behavior | microtubule anchoring at centrosome | morphogenesis of embryonic epithelium | neuron projection development | negative regulation of protein complex assembly | positive regulation of cellular component biogenesis | connective tissue development | negative regulation of gene expression | animal organ development | forebrain development | cilium assembly | sensory perception of light stimulus | pallium development | retina homeostasis | photoreceptor cell maintenance | maintenance of protein location in cell | spermatid development | cytoskeleton organization | establishment of protein localization | anatomical structure formation involved in morphogenesis | regulation of stress fiber assembly | adult behavior | cilium organization | sensory perception | negative regulation of molecular function | positive regulation of developmental growth | signaling | positive regulation of growth | positive regulation of cilium assembly | protein localization to cilium | negative regulation of systemic arterial blood pressure | cell development | regulation of developmental growth | sensory perception of chemical stimulus | protein localization | anatomical structure morphogenesis | cellular macromolecule localization | regulation of actin filament bundle assembly | positive regulation of plasma membrane bounded cell projection assembly | regulation of cilium beat frequency | dendrite development | regulation of developmental process | developmental process | organelle organization | cellular pigmentation | spermatogenesis | tube development | microtubule anchoring | negative regulation of GTPase activity | photoreceptor cell development | tube closure | negative regulation of supramolecular fiber organization | protein localization to cytoskeleton | negative regulation of hydrolase activity | tube formation | central nervous system development | regulation of lipid metabolic process | regulation of actin filament-based process | vesicle localization | regulation of cell projection organization | pigment granule localization | photoreceptor cell differentiation | cellular response to organic substance | sensory perception of smell | regulation of organelle assembly | circulatory system development | non-motile cilium assembly | sexual reproduction | regulation of cellular component organization | regulation of cytoskeleton organization | signal transduction | cellular response to leptin stimulus | maintenance of location in cell | multicellular organismal process | face development | melanosome transport

GO Cellular Component

ciliary transition zone | non-motile cilium | centriole | pericentriolar material | intracellular membrane-bounded organelle | neuron projection | ciliary membrane | organelle membrane | cell projection membrane | microtubule organizing center | cell | cytoplasm | centriolar satellite | intracellular organelle | motile cilium | centrosome | protein-containing complex | cell projection | plasma membrane | photoreceptor connecting cilium | cilium | photoreceptor inner segment | photoreceptor outer segment | microtubule cytoskeleton | BBSome | 9+0 non-motile cilium | photoreceptor cell cilium | membrane-bounded organelle | nucleus | organelle | cell periphery | cytosol | cytoskeleton | intracellular | membrane | ciliary basal body