Bbs1
entrez
52028
canonical
uniprot
Q3V3N7
canonical
ensembl
ENSMUSG00000006464
resolver
ensp
ENSMUSP00000055321
resolver
enst
ENSMUST00000053506
resolver
genesymbol
Bbs1
resolver
uniprot_entry
BBS1_MOUSE
resolver
amino_acid_sequence
MAAASSSDSDSGRAESNEANSKWLDAHYDPMANIHTFSSCLSLADLHGDGEYKLVVGDLGPGGQQPRLKVLKGPTVLTESPLPALPASAATFLMDQHEPRTPALALASGPCVYVYKNLRPYFKFSLPQLPPNPLEQDVWNQAKEDQIDPLTLKEMLEDIREKADVPLSVQSLRFLQLELSEMEAFVNQHKSKVIKRQTVITTMTTLKKNLADEDAASCLVLGTESKELLVLDPEAFTILAKMSLPSVPVFLEVSGQFDVEFRLTAACRNGSIYILRRDSKHPKYCIELSAQPVGLVRVHKVLVVGSTQESLHGFTHKGKKLWTVQMPAAILTMNLLEQRSRGLQAVMAALANGEVRIYRDKALLNVIHAPDAVTSLCFGRYGREDNTLIMTTRGGGLIIKILKRTAVFVEGTGEVGPPLAQTTKLSVPRKTRLYVDQTLREREAGTAMHRTFQTDLYLLRLRAARAYVQALESSLSPMSTTAREPLKLHAVVQGLGPTFKLTLHLQNTSTARPVLGLHVCFLYNKALYALPQAFFKVPLLVPGLSYPLETFVESLSSKGISDMIKVLVLREGQSAPLLSAHINMPVSEGLAAA
uniprot
proteins
function
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 (By similarity). Plays a role in olfactory cilium biogenesis/maintenance and trafficking and is essential for the localization of the BBSome complex in the olfactory sensory neurons cilia (PubMed:15322545, PubMed:28237838). {ECO:0000250|UniProtKB:Q8NFJ9, ECO:0000269|PubMed:15322545, ECO:0000269|PubMed:28237838}.
uniprot
proteins
mass_dalton
65094
uniprot
proteins
mutagenesis
MUTAGEN 390; /note="M->R: Knockin mice exhibit olfaction deficits, male infertility, ventriculomegaly, retinopathy and obesity."; /evidence="ECO:0000269|PubMed:18032602
uniprot
proteins
pubmed
15322545
uniprot
proteins
pubmed
16141072
uniprot
proteins
pubmed
18032602
uniprot
proteins
pubmed
19468303
uniprot
proteins
pubmed
21183079
uniprot
proteins
pubmed
28237838
uniprot
proteins
sequence_length
593
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium membrane {ECO:0000250|UniProtKB:Q8NFJ9}. Cytoplasm {ECO:0000250|UniProtKB:Q8NFJ9}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite {ECO:0000250|UniProtKB:Q8NFJ9}.
uniprot
proteins