CPLM 1.0 - Compendium of Protein Lysine Modification
TagContent
CPLM ID CPLM-019584
UniProt Accession
Genbank Protein ID
Genbank Nucleotide ID
Protein Name
 Bardet-Biedl syndrome 4 protein 
Protein Synonyms/Alias
  
Gene Name
 BBS4 
Gene Synonyms/Alias
  
Created Date
 July 27, 2013 
Organism
 Homo sapiens (Human) 
NCBI Taxa ID
 9606 
Lysine Modification
Position
Peptide
Type
References
20PVSTESQKPRQKKAPubiquitination[1]
118LFLLGKHKAAIEVYNubiquitination[1]
129EVYNEAAKLNQKDWEubiquitination[1]
Reference
 [1] Systematic and quantitative assessment of the ubiquitin-modified proteome.
 Kim W, Bennett EJ, Huttlin EL, Guo A, Li J, Possemato A, Sowa ME, Rad R, Rush J, Comb MJ, Harper JW, Gygi SP.
 Mol Cell. 2011 Oct 21;44(2):325-40. [PMID: 21906983] 
Functional Description
 May be required for the dynein-mediated transport of pericentriolar proteins to the centrosome. Required for microtubule anchoring at the centrosome but not for microtubule nucleation. 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. 
Sequence Annotation
 REPEAT 67 100 TPR 1.
 REPEAT 101 134 TPR 2.
 REPEAT 135 168 TPR 3.
 REPEAT 169 201 TPR 4.
 REPEAT 203 235 TPR 5.
 REPEAT 237 269 TPR 6.
 REPEAT 270 303 TPR 7.
 REPEAT 304 337 TPR 8.
 REPEAT 339 371 TPR 9.
 REPEAT 373 408 TPR 10.
 REGION 1 66 Required for localization to centrosomes.
 REGION 101 337 Interaction with PCM1.
 REGION 338 519 Required for localization to centrosomes.  
Keyword
 Alternative splicing; Bardet-Biedl syndrome; Cell membrane; Cell projection; Ciliopathy; Cilium; Complete proteome; Cytoplasm; Cytoskeleton; Disease mutation; Membrane; Mental retardation; Obesity; Polymorphism; Reference proteome; Repeat; Sensory transduction; TPR repeat; Vision. 
Sequence Source
 UniProt (SWISSPROT/TrEMBL); GenBank; EMBL 
Protein Length
 519 AA 
Protein Sequence
MAEERVATRT QFPVSTESQK PRQKKAPEFP ILEKQNWLIH LHYIRKDYEA CKAVIKEQLQ 60
ETQGLCEYAI YVQALIFRLE GNIQESLELF QTCAVLSPQS ADNLKQVARS LFLLGKHKAA 120
IEVYNEAAKL NQKDWEISHN LGVCYIYLKQ FNKAQDQLHN ALNLNRHDLT YIMLGKIHLL 180
EGDLDKAIEV YKKAVEFSPE NTELLTTLGL LYLQLGIYQK AFEHLGNALT YDPTNYKAIL 240
AAGSMMQTHG DFDVALTKYR VVACAVPESP PLWNNIGMCF FGKKKYVAAI SCLKRANYLA 300
PFDWKILYNL GLVHLTMQQY ASAFHFLSAA INFQPKMGEL YMLLAVALTN LEDIENAKRA 360
YAEAVHLDKC NPLVNLNYAV LLYNQGEKKN ALAQYQEMEK KVSLLKDNSS LEFDSEMVEM 420
AQKLGAALQV GEALVWTKPV KDPKSKHQTT STSKPASFQQ PLGSNQALGQ AMSSAAAYRT 480
LPSGAGGTSQ FTKPPSLPLE PEPAVESSPT ETSEQIREK 519 
Gene Ontology
 GO:0034464; C:BBSome; IDA:BHF-UCL.
 GO:0034451; C:centriolar satellite; IDA:BHF-UCL.
 GO:0005814; C:centriole; IDA:BHF-UCL.
 GO:0060170; C:cilium membrane; IDA:BHF-UCL.
 GO:0005932; C:microtubule basal body; IDA:BHF-UCL.
 GO:0031513; C:nonmotile primary cilium; IDA:BHF-UCL.
 GO:0000242; C:pericentriolar material; IDA:UniProtKB.
 GO:0043014; F:alpha-tubulin binding; IDA:BHF-UCL.
 GO:0048487; F:beta-tubulin binding; IDA:BHF-UCL.
 GO:0034452; F:dynactin binding; IDA:BHF-UCL.
 GO:0003777; F:microtubule motor activity; IMP:UniProtKB.
 GO:0030534; P:adult behavior; ISS:BHF-UCL.
 GO:0048854; P:brain morphogenesis; ISS:BHF-UCL.
 GO:0051297; P:centrosome organization; IMP:UniProtKB.
 GO:0021987; P:cerebral cortex development; ISS:BHF-UCL.
 GO:0060027; P:convergent extension involved in gastrulation; ISS:BHF-UCL.
 GO:0000910; P:cytokinesis; IMP:BHF-UCL.
 GO:0016358; P:dendrite development; ISS:BHF-UCL.
 GO:0045444; P:fat cell differentiation; ISS:BHF-UCL.
 GO:0001947; P:heart looping; ISS:BHF-UCL.
 GO:0021766; P:hippocampus development; ISS:BHF-UCL.
 GO:0046907; P:intracellular transport; ISS:BHF-UCL.
 GO:0051457; P:maintenance of protein location in nucleus; IGI:BHF-UCL.
 GO:0032402; P:melanosome transport; ISS:BHF-UCL.
 GO:0034454; P:microtubule anchoring at centrosome; IMP:BHF-UCL.
 GO:0038108; P:negative regulation of appetite by leptin-mediated signaling pathway; ISS:BHF-UCL.
 GO:0010629; P:negative regulation of gene expression; IEA:Compara.
 GO:0003085; P:negative regulation of systemic arterial blood pressure; IEA:Compara.
 GO:0001843; P:neural tube closure; ISS:BHF-UCL.
 GO:0035058; P:nonmotile primary cilium assembly; ISS:BHF-UCL.
 GO:0045494; P:photoreceptor cell maintenance; ISS:BHF-UCL.
 GO:0051877; P:pigment granule aggregation in cell center; ISS:BHF-UCL.
 GO:0045724; P:positive regulation of cilium assembly; ISS:BHF-UCL.
 GO:0040018; P:positive regulation of multicellular organism growth; IEA:Compara.
 GO:0060296; P:regulation of cilium beat frequency involved in ciliary motility; ISS:BHF-UCL.
 GO:0032465; P:regulation of cytokinesis; IMP:BHF-UCL.
 GO:0019216; P:regulation of lipid metabolic process; ISS:BHF-UCL.
 GO:0001895; P:retina homeostasis; ISS:BHF-UCL.
 GO:0046548; P:retinal rod cell development; ISS:BHF-UCL.
 GO:0007608; P:sensory perception of smell; ISS:BHF-UCL.
 GO:0050893; P:sensory processing; TAS:BHF-UCL.
 GO:0007286; P:spermatid development; ISS:BHF-UCL.
 GO:0021756; P:striatum development; ISS:BHF-UCL. 
Interpro
 IPR013026; TPR-contain_dom.
 IPR011990; TPR-like_helical.
 IPR019734; TPR_repeat. 
Pfam
 PF13181; TPR_8 
SMART
 SM00028; TPR 
PROSITE
 PS50005; TPR
 PS50293; TPR_REGION 
PRINTS