| Tag | Content |
|---|
| CPLM ID | CPLM-017704 |
UniProt Accession | |
Genbank Protein ID | |
Genbank Nucleotide ID | |
Protein Name | Bardet-Biedl syndrome 1 protein |
Protein Synonyms/Alias | BBS2-like protein 2 |
Gene Name | BBS1 |
Gene Synonyms/Alias | BBS2L2 |
Created Date | July 27, 2013 |
Organism | Homo sapiens (Human) |
NCBI Taxa ID | 9606 |
Lysine Modification | Position | Peptide | Type | References |
|---|
| 143 | QDLWNQAKEDRIDPL | ubiquitination | [1] | | 190 | EAFVNQHKSNSIKRQ | ubiquitination | [1] | | 424 | PPPAQAMKLNVPRKT | ubiquitination | [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 | 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 | MOD_RES 2 2 N-acetylalanine. |
Keyword | Acetylation; Alternative splicing; Bardet-Biedl syndrome; Cell membrane; Cell projection; Ciliopathy; Cilium; Complete proteome; Cytoplasm; Disease mutation; Membrane; Mental retardation; Obesity; Polymorphism; Reference proteome; Sensory transduction; Vision. |
Sequence Source | UniProt (SWISSPROT/TrEMBL); GenBank; EMBL |
Protein Length | 593 AA |
Protein Sequence | MAAASSSDSD ACGAESNEAN SKWLDAHYDP MANIHTFSAC LALADLHGDG EYKLVVGDLG 60
PGGQQPRLKV LKGPLVMTES PLPALPAAAA TFLMEQHEPR TPALALASGP CVYVYKNLRP 120
YFKFSLPQLP PNPLEQDLWN QAKEDRIDPL TLKEMLESIR ETAEEPLSIQ SLRFLQLELS 180
EMEAFVNQHK SNSIKRQTVI TTMTTLKKNL ADEDAVSCLV LGTENKELLV LDPEAFTILA 240
KMSLPSVPVF LEVSGQFDVE FRLAAACRNG NIYILRRDSK HPKYCIELSA QPVGLIRVHK 300
VLVVGSTQDS LHGFTHKGKK LWTVQMPAAI LTMNLLEQHS RGLQAVMAGL ANGEVRIYRD 360
KALLNVIHTP DAVTSLCFGR YGREDNTLIM TTRGGGLIIK ILKRTAVFVE GGSEVGPPPA 420
QAMKLNVPRK TRLYVDQTLR EREAGTAMHR AFQTDLYLLR LRAARAYLQA LESSLSPLST 480
TAREPLKLHA VVQGLGPTFK LTLHLQNTST TRPVLGLLVC FLYNEALYSL PRAFFKVPLL 540
VPGLNYPLET FVESLSNKGI SDIIKVLVLR EGQSAPLLSA HVNMPGSEGL AAA 593 |
Gene Ontology | GO:0034464; C:BBSome; IDA:BHF-UCL. GO:0060170; C:cilium membrane; IEA:UniProtKB-SubCell. GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell. GO:0043001; P:Golgi to plasma membrane protein transport; IMP:MGI. GO:0035058; P:nonmotile primary cilium assembly; IMP:BHF-UCL. GO:0045494; P:photoreceptor cell maintenance; IMP:BHF-UCL. GO:0050896; P:response to stimulus; IEA:UniProtKB-KW. GO:0001895; P:retina homeostasis; IMP:BHF-UCL. |
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