BBS4
entrez
585
canonical
uniprot
Q96RK4
canonical
ensembl
ENSG00000140463
resolver
ensp
ENSP00000268057
resolver
ensp
ENSP00000378631
resolver
ensp
ENSP00000455958
resolver
ensp
ENSP00000456758
resolver
ensp
ENSP00000456759
resolver
ensp
ENSP00000520733
resolver
enst
ENST00000569338
resolver
genesymbol
BBS4
resolver
hgnc
HGNC:969
resolver
uniprot
A0A0S2Z3A9
resolver
uniprot
B4DQR5
resolver
uniprot
B4E178
resolver
uniprot
H3BSL2
resolver
uniprot
Q53DZ5
resolver
uniprot
Q8NHU9
resolver
uniprot
Q96H45
resolver
uniprot_entry
A0A0S2Z3A9_HUMAN
resolver
uniprot_entry
B4DQR5_HUMAN
resolver
uniprot_entry
BBS4_HUMAN
resolver
uniprot_entry
H3BSL2_HUMAN
resolver
uniprot_sec
B4E178
resolver
uniprot_sec
Q53DZ5
resolver
uniprot_sec
Q8NHU9
resolver
uniprot_sec
Q96H45
resolver
amino_acid_sequence
MAEERVATRTQFPVSTESQKPRQKKAPEFPILEKQNWLIHLHYIRKDYEACKAVIKEQLQETQGLCEYAIYVQALIFRLEGNIQESLELFQTCAVLSPQSADNLKQVARSLFLLGKHKAAIEVYNEAAKLNQKDWEISHNLGVCYIYLKQFNKAQDQLHNALNLNRHDLTYIMLGKIHLLEGDLDKAIEVYKKAVEFSPENTELLTTLGLLYLQLGIYQKAFEHLGNALTYDPTNYKAILAAGSMMQTHGDFDVALTKYRVVACAVPESPPLWNNIGMCFFGKKKYVAAISCLKRANYLAPFDWKILYNLGLVHLTMQQYASAFHFLSAAINFQPKMGELYMLLAVALTNLEDIENAKRAYAEAVHLDKCNPLVNLNYAVLLYNQGEKKNALAQYQEMEKKVSLLKDNSSLEFDSEMVEMAQKLGAALQVGEALVWTKPVKDPKSKHQTTSTSKPASFQQPLGSNQALGQAMSSAAAYRTLPSGAGGTSQFTKPPSLPLEPEPAVESSPTETSEQIREK
uniprot
proteins
disease_involvement
DISEASE: Bardet-Biedl syndrome 4 (BBS4) [MIM:615982]: 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:11381270, ECO:0000269|PubMed:12016587, ECO:0000269|PubMed:12677556, ECO:0000269|PubMed:12872256, ECO:0000269|PubMed:12920096, ECO:0000269|PubMed:15666242, ECO:0000269|PubMed:15770229}. 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 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. {ECO:0000269|PubMed:15107855, ECO:0000269|PubMed:17574030, ECO:0000269|PubMed:22072986}.
uniprot
proteins
mass_dalton
58282
uniprot
proteins
protein_family
BBS4 family
uniprot
proteins
pubmed
11381270
uniprot
proteins
pubmed
12016587
uniprot
proteins
pubmed
12677556
uniprot
proteins
pubmed
12872256
uniprot
proteins
pubmed
12920096
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15107855
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15497446
uniprot
proteins
pubmed
15666242
uniprot
proteins
pubmed
15770229
uniprot
proteins
pubmed
16327777
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
17574030
uniprot
proteins
pubmed
18000879
uniprot
proteins
pubmed
21344540
uniprot
proteins
pubmed
22072986
uniprot
proteins
pubmed
23943788
uniprot
proteins
pubmed
24939912
uniprot
proteins
pubmed
33144677
uniprot
proteins
sequence_length
519
uniprot
proteins
subcellular_location
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:0000250|UniProtKB:Q8C1Z7}. Cell projection, cilium {ECO:0000250|UniProtKB:Q8C1Z7}. Note=Localizes to the pericentriolar material. Centrosomal localization requires dynein (By similarity). Localizes to the connecting cilium of photoreceptor cells (By similarity). {ECO:0000250|UniProtKB:Q8C1Z7}.
uniprot
proteins