BBS7
entrez
55212
canonical
uniprot
Q8IWZ6
canonical
ensembl
ENSG00000138686
resolver
ensp
ENSP00000264499
resolver
ensp
ENSP00000423626
resolver
ensp
ENSP00000558092
resolver
ensp
ENSP00000558093
resolver
ensp
ENSP00000558094
resolver
ensp
ENSP00000558095
resolver
ensp
ENSP00000629565
resolver
genesymbol
BBS7
resolver
genesymbol_syn
BBS2L1
resolver
hgnc
HGNC:18758
resolver
uniprot
Q4W5P8
resolver
uniprot
Q8N581
resolver
uniprot
Q9NVI4
resolver
uniprot_entry
BBS7_HUMAN
resolver
uniprot_sec
Q4W5P8
resolver
uniprot_sec
Q8N581
resolver
uniprot_sec
Q9NVI4
resolver
amino_acid_sequence
MDLILNRMDYLQVGVTSQKTMKLIPASRHRATQKVVIGDHDGVVMCFGMKKGEAAAVFKTLPGPKIARLELGGVINTPQEKIFIAAASEIRGFTKRGKQFLSFETNLTESIKAMHISGSDLFLSASYIYNHYCDCKDQHYYLSGDKINDVICLPVERLSRITPVLACQDRVLRVLQGSDVMYAVEVPGPPTVLALHNGNGGDSGEDLLFGTSDGKLALIQITTSKPVRKWEIQNEKKRGGILCIDSFDIVGDGVKDLLVGRDDGMVEVYSFDNANEPVLRFDQMLSESVTSIQGGCVGKDSYDEIVVSTYSGWVTGLTTEPIHKESGPGEELKINQEMQNKISSLRNELEHLQYKVLQERENYQQSSQSSKAKSAVPSFGINDKFTLNKDDASYSLILEVQTAIDNVLIQSDVPIDLLDVDKNSAVVSFSSCDSESNDNFLLATYRCQADTTRLELKIRSIEGQYGTLQAYVTPRIQPKTCQVRQYHIKPLSLHQRTHFIDHDRPMNTLTLTGQFSFAEVHSWVVFCLPEVPEKPPAGECVTFYFQNTFLDTQLESTYRKGEGVFKSDNISTISILKDVLSKEATKRKINLNISYEINEVSVKHTLKLIHPKLEYQLLLAKKVQLIDALKELQIHEGNTNFLIPEYHCILEEADHLQEEYKKQPAHLERLYGMITDLFIDKFKFKGTNVKTKVPLLLEILDSYDQNALISFFDAA
uniprot
proteins
disease_involvement
DISEASE: Note=Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome, including BBS7, influence the clinical outcome.; DISEASE: Bardet-Biedl syndrome 7 (BBS7) [MIM:615984]: 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:12567324, ECO:0000269|PubMed:12677556, ECO:0000269|PubMed:15770229, 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 proper BBSome complex assembly and its ciliary localization. {ECO:0000269|PubMed:17574030, ECO:0000269|PubMed:22072986}.
uniprot
proteins
mass_dalton
80353
uniprot
proteins
pubmed
12567324
uniprot
proteins
pubmed
12677556
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15770229
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16327777
uniprot
proteins
pubmed
17574030
uniprot
proteins
pubmed
18000879
uniprot
proteins
pubmed
20080638
uniprot
proteins
pubmed
21258341
uniprot
proteins
pubmed
21344540
uniprot
proteins
pubmed
21552264
uniprot
proteins
pubmed
22072986
uniprot
proteins
pubmed
22814378
uniprot
proteins
sequence_length
715
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium membrane {ECO:0000269|PubMed:17574030, ECO:0000269|PubMed:22072986}. Cytoplasm {ECO:0000269|PubMed:22072986}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite {ECO:0000269|PubMed:22072986}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:Q8K2G4}.
uniprot
proteins