Protein: BBSome complex member BBS4 (Bardet-Biedl syndrome 4 protein homolog) (Q8C1Z7)
Organism: Mus musculus (Mouse)
Function: The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization. Required for microtubule anchoring at the centrosome but not for microtubule nucleation. May be required for the dynein-mediated transport of pericentriolar proteins to the centrosome (By similarity).
Subcellular location: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250}. Cell projection, cilium membrane {ECO:0000250}. Cytoplasm {ECO:0000250}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite {ECO:0000250}. Cell projection, cilium, flagellum {ECO:0000269|PubMed:15107855, ECO:0000269|PubMed:22072986}. Cell projection, cilium {ECO:0000269|PubMed:23943788}. Note=Localizes to the pericentriolar material. Centrosomal localization requires dynein (By similarity). Localizes to the connecting cilium of photoreceptor cells (PubMed:23943788).
Sequence: MAEVKLGMKTQVPASVESQKPRSKKAPDFPIVEKQNWLIHLHYIRKDYEACKAVIKEQLQETQGLCEYAIYVQALIFRLEGNIQESLELFQTCAVLSPQCADNLKQVARSLFLLGKHKAATEVYNEAAKLNQKDWEICHNLGVCYTYLKQFNKAQDQLHSALQLNKHDLTYIMLGKIHLLQGDLDKAIEIYKKAVEFSPENTELLTTLGLLYLQLGVYQKAFEHLGNALTYDPANYKAILAAGSMMQTHGDFDVALTKYRVVACAIPESPPLWNNIGMCFFGKKKYVAAISCLKRANYLAPFDWKILYNLGLVHLTMQQYASAFHFLSAAINFQPKMGELYMLLAVALTNLEDIENARRAYVEAVRLDKCNPLVNLNYAVLLYNQGEKKSALAQYQEMEKKVNFLKDNSPLEFDSEMVEMAQKLGAALQVGEALVWTKPVKDPKTKHRTNSGSKSATLQQPLGSIQALGQAMSSAAAYRKILSGAVGAQLPKPPSLPLEPEPEPTVEASPTEASEQKKEK
InterPro domains: - IPR011990: Tetratricopeptide-like helical domain superfamily (homologous_superfamily) [17-424]
- IPR019734: Tetratricopeptide repeat (repeat) [67-371]
Interaction partners: - Protein PTHB1
- BBSome complex member BBS7
- BBSome complex member BBS1
- BBSome complex member BBS2
- BBSome complex member BBS5
- Tetratricopeptide repeat protein 8
- Pericentriolar material 1 protein
- BBSome interacting protein 1
- Leucine zipper transcription factor-like protein 1
- BBSome complex assembly protein BBS10
Gene Ontology annotations:
Molecular Function (MF): GO:0003674 (molecular function), GO:0005488 (binding), GO:0005515 (protein binding)
Biological Process (BP): GO:0008150 (biological process), GO:0008152 (metabolic process), GO:0051179 (localization), GO:0050789 (regulation of biological process), GO:0040007 (growth), GO:0032501 (multicellular organismal process), GO:0065007 (biological regulation), GO:0032502 (developmental process), GO:0009987 (cellular process), GO:0048519 (negative regulation of biological process), GO:0048589 (developmental growth), GO:0051641 (cellular localization), GO:0048869 (cellular developmental process), GO:0048856 (anatomical structure development), GO:0007275 (multicellular organism development), GO:0035265 (organ growth), GO:0042221 (response to chemical), GO:0019222 (regulation of metabolic process), GO:0008283 (cell population proliferation), GO:0006807 (nitrogen compound metabolic process), GO:0007389 (pattern specification process), GO:0051234 (establishment of localization), GO:0051301 (cell division), GO:0071840 (cellular component organization or biogenesis), GO:0051241 (negative regulation of multicellular organismal process), GO:0051239 (regulation of multicellular organismal process), GO:0071704 (organic substance metabolic process), GO:0003008 (system process), GO:0033036 (macromolecule localization), GO:0009892 (negative regulation of metabolic process), GO:0044237 (cellular metabolic process), GO:0050794 (regulation of cellular process), GO:0065009 (regulation of molecular function), GO:0048523 (negative regulation of cellular process), GO:0044238 (primary metabolic process), GO:0021766 (hippocampus development), GO:0050790 (regulation of catalytic activity), GO:0051172 (negative regulation of nitrogen compound metabolic process), GO:1901564 (organonitrogen compound metabolic process), GO:0048468 (cell development), GO:0030154 (cell differentiation), GO:0048731 (system development), GO:0019538 (protein metabolic process), GO:0048513 (animal organ development), GO:0014009 (glial cell proliferation), GO:0060255 (regulation of macromolecule metabolic process), GO:0051649 (establishment of localization in cell), GO:0009799 (specification of symmetry), GO:0060255 (regulation of macromolecule metabolic process), GO:0051668 (localization within membrane), GO:0031324 (negative regulation of cellular metabolic process), GO:0043170 (macromolecule metabolic process), GO:0010033 (response to organic substance), GO:0006793 (phosphorus metabolic process), GO:0008356 (asymmetric cell division), GO:0000902 (cell morphogenesis), GO:0003002 (regionalization), GO:0006403 (RNA localization), GO:0010605 (negative regulation of macromolecule metabolic process), GO:0051171 (regulation of nitrogen compound metabolic process), GO:0070727 (cellular macromolecule localization), GO:0031323 (regulation of cellular metabolic process), GO:0016043 (cellular component organization), GO:0009890 (negative regulation of biosynthetic process), GO:0050877 (nervous system process), GO:0080090 (regulation of primary metabolic process), GO:0044260 (cellular macromolecule metabolic process), GO:0072001 (renal system development), GO:0043086 (negative regulation of catalytic activity), GO:0030030 (cell projection organization), GO:0006479 (protein methylation), GO:0051246 (regulation of protein metabolic process), GO:0051248 (negative regulation of protein metabolic process), GO:0006796 (phosphate-containing compound metabolic process), GO:0099111 (microtubule-based transport), GO:0010468 (regulation of gene expression), GO:0048666 (neuron development), GO:0036211 (protein modification process), GO:0022008 (neurogenesis), GO:0043412 (macromolecule modification), GO:0000904 (cell morphogenesis involved in differentiation), GO:0007399 (nervous system development), GO:0021761 (limbic system development), GO:0060972 (left/right pattern formation), GO:0010563 (negative regulation of phosphorus metabolic process), GO:0008104 (protein localization), GO:0051338 (regulation of transferase activity), GO:0006996 (organelle organization), GO:0001822 (kidney development), GO:0030182 (neuron differentiation), GO:0051174 (regulation of phosphorus metabolic process), GO:0009952 (anterior/posterior pattern specification), GO:0072657 (protein localization to membrane), GO:0048667 (cell morphogenesis involved in neuron differentiation), GO:0007368 (determination of left/right symmetry), GO:0031399 (regulation of protein modification process), GO:0031400 (negative regulation of protein modification process), GO:0006468 (protein phosphorylation), GO:0120036 (plasma membrane bounded cell projection organization), GO:0018193 (peptidyl-amino acid modification), GO:0019220 (regulation of phosphate metabolic process), GO:0016310 (phosphorylation), GO:0007010 (cytoskeleton organization), GO:0043549 (regulation of kinase activity), GO:0051348 (negative regulation of transferase activity), GO:0031175 (neuron projection development), GO:0048699 (generation of neurons), GO:0008306 (associative learning), GO:0045936 (negative regulation of phosphate metabolic process), GO:0042325 (regulation of phosphorylation), GO:0001933 (negative regulation of protein phosphorylation), GO:0001932 (regulation of protein phosphorylation), GO:0018108 (peptidyl-tyrosine phosphorylation), GO:0033673 (negative regulation of kinase activity), GO:0042326 (negative regulation of phosphorylation), GO:0045859 (regulation of protein kinase activity), GO:0120031 (plasma membrane bounded cell projection assembly), GO:0018105 (peptidyl-serine phosphorylation), GO:0018209 (peptidyl-serine modification), GO:0071900 (regulation of protein serine/threonine kinase activity), GO:0006469 (negative regulation of protein kinase activity), GO:0071901 (negative regulation of protein serine/threonine kinase activity)
Cellular Component (CC): GO:0005575 (cellular component), GO:0032991 (protein-containing complex), GO:0110165 (cellular anatomical entity), GO:0005815 (microtubule organizing center), GO:0005622 (intracellular anatomical structure), GO:0043226 (organelle), GO:0042995 (cell projection), GO:0097546 (ciliary base), GO:0030992 (intraciliary transport particle B), GO:0030990 (intraciliary transport particle), GO:0036064 (ciliary basal body), GO:0005814 (centriole), GO:0120025 (plasma membrane bounded cell projection), GO:0043229 (intracellular organelle), GO:0043227 (membrane-bounded organelle), GO:0043228 (non-membrane-bounded organelle), GO:0005813 (centrosome), GO:0043005 (neuron projection), GO:0005929 (cilium), GO:0043232 (intracellular non-membrane-bounded organelle), GO:0005856 (cytoskeleton), GO:0097730 (non-motile cilium), GO:0015630 (microtubule cytoskeleton)