BBS5
entrez
129880
canonical
uniprot
Q8N3I7
canonical
ensembl
ENSG00000163093
resolver
ensp
ENSP00000295240
resolver
genesymbol
BBS5
resolver
hgnc
HGNC:970
resolver
uniprot
A0A0S2Z626
resolver
uniprot
D3DPC3
resolver
uniprot
Q6PKN0
resolver
uniprot_entry
A0A0S2Z626_HUMAN
resolver
uniprot_entry
BBS5_HUMAN
resolver
uniprot_sec
D3DPC3
resolver
uniprot_sec
Q6PKN0
resolver
amino_acid_sequence
MSVLDALWEDRDVRFDLSAQQMKTRPGEVLIDCLDSIEDTKGNNGDRGRLLVTNLRILWHSLALSRVNVSVGYNCILNITTRTANSKLRGQTEALYILTKCNSTRFEFIFTNLVPGSPRLFTSVMAVHRAYETSKMYRDFKLRSALIQNKQLRLLPQEHVYDKINGVWNLSSDQGNLGTFFITNVRIVWHANMNDSFNVSIPYLQIRSIKIRDSKFGLALVIESSQQSGGYVLGFKIDPVEKLQESVKEINSLHKVYSASPIFGVDYEMEEKPQPLEALTVEQIQDDVEIDSDGHTDAFVAYFADGNKQQDREPVFSEELGLAIEKLKDGFTLQGLWEVMS
uniprot
proteins
disease_involvement
DISEASE: Bardet-Biedl syndrome 5 (BBS5) [MIM:615983]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269|PubMed:15137946, ECO:0000269|PubMed:18203199, ECO:0000269|PubMed:21344540}. Note=The disease is caused by variants affecting the gene represented in this entry.
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 BBSome complex ciliary localization but not for the proper complex assembly. {ECO:0000269|PubMed:17574030, ECO:0000269|PubMed:22072986}.
uniprot
proteins
mass_dalton
38755
uniprot
proteins
protein_family
BBS5 family
uniprot
proteins
pubmed
15137946
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16327777
uniprot
proteins
pubmed
17574030
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18203199
uniprot
proteins
pubmed
21344540
uniprot
proteins
pubmed
22072986
uniprot
proteins
pubmed
24939912
uniprot
proteins
pubmed
33144677
uniprot
proteins
sequence_length
341
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. Note=Localizes to basal bodies. {ECO:0000250}.
uniprot
proteins