BBS9
entrez
27241
canonical
uniprot
Q3SYG4
canonical
ensembl
ENSG00000122507
resolver
ensp
ENSP00000242067
resolver
ensp
ENSP00000313122
resolver
ensp
ENSP00000347182
resolver
ensp
ENSP00000379433
resolver
ensp
ENSP00000499904
resolver
ensp
ENSP00000499989
resolver
ensp
ENSP00000500146
resolver
ensp
ENSP00000500239
resolver
ensp
ENSP00000612966
resolver
enst
ENST00000671890
resolver
enst
ENST00000671952
resolver
enst
ENST00000671963
resolver
enst
ENST00000673056
resolver
genesymbol
BBS9
resolver
genesymbol_syn
PTHB1
resolver
hgnc
HGNC:30000
resolver
uniprot
A0A5F9ZGY2
resolver
uniprot
A0A5F9ZH14
resolver
uniprot
A0A5F9ZH74
resolver
uniprot
A0A5F9ZHE7
resolver
uniprot
E9PDC9
resolver
uniprot
P78514
resolver
uniprot
Q7KYS6
resolver
uniprot
Q7KYS7
resolver
uniprot
Q8N570
resolver
uniprot
Q99844
resolver
uniprot
Q99854
resolver
uniprot
Q9Y699
resolver
uniprot
Q9Y6A0
resolver
uniprot_entry
A0A5F9ZGY2_HUMAN
resolver
uniprot_entry
A0A5F9ZH14_HUMAN
resolver
uniprot_entry
A0A5F9ZH74_HUMAN
resolver
uniprot_entry
A0A5F9ZHE7_HUMAN
resolver
uniprot_entry
PTHB1_HUMAN
resolver
uniprot_sec
E9PDC9
resolver
uniprot_sec
P78514
resolver
uniprot_sec
Q7KYS6
resolver
uniprot_sec
Q7KYS7
resolver
uniprot_sec
Q8N570
resolver
uniprot_sec
Q99844
resolver
uniprot_sec
Q99854
resolver
uniprot_sec
Q9Y699
resolver
uniprot_sec
Q9Y6A0
resolver
amino_acid_sequence
MSLFKARDWWSTILGDKEEFDQGCLCLANVDNSGNGQDKIIVGSFMGYLRIFSPHPAKTGDGAQAEDLLLEVDLRDPVLQVEVGKFVSGTEMLHLAVLHSRKLCVYSVSGTLGNVEHGNQCQMKLMYEHNLQRTACNMTYGSFGGVKGRDLICIQSMDGMLMVFEQESYAFGRFLPGFLLPGPLAYSSRTDSFLTVSSCQQVESYKYQVLAFATDADKRQETEQQKLGSGKRLVVDWTLNIGEQALDICIVSFNQSASSVFVLGERNFFCLKDNGQIRFMKKLDWSPSCFLPYCSVSEGTINTLIGNHNNMLHIYQDVTLKWATQLPHIPVAVRVGCLHDLKGVIVTLSDDGHLQCSYLGTDPSLFQAPNVQSRELNYDELDVEMKELQKIIKDVNKSQGVWPMTEREDDLNVSVVVSPNFDSVSQATDVEVGTDLVPSVTVKVTLQNRVILQKAKLSVYVQPPLELTCDQFTFEFMTPDLTRTVSFSVYLKRSYTPSELEGNAVVSYSRPTDRNPDGIPRVIQCKFRLPLKLICLPGQPSKTASHKITIDTNKSPVSLLSLFPGFASQSDDDQVNVMGFHFLGGARITVLASKTSQRYRIQSEQFEDLWLITNELILRLQEYFEKQGVKDFACSFSGSIPLQEYFELIDHHFELRINGEKLEELLSERAVQFRAIQRRLLARFKDKTPAPLQHLDTLLDGTYKQVIALADAVEENQGNLFQSFTRLKSATHLVILLIALWQKLSADQVAILEAAFLPLQEDTQELGWEETVDAAISHLLKTCLSKSSKEQALNLNSQLNIPKDTSQLKKHITLLCDRLSKGGRLCLSTDAAAPQTMVMPGGCTTIPESDLEERSVEQDSTELFTNHRHLTAETPRPEVSPLQGVSE
uniprot
proteins
disease_involvement
DISEASE: Note=A chromosomal aberration involving PTHB1 has been found in Wilms tumor. Translocation t(1;7)(q42;p15) with OBSCN. {ECO:0000269|PubMed:12618763}.; DISEASE: Bardet-Biedl syndrome 9 (BBS9) [MIM:615986]: 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:16380913, ECO:0000269|PubMed:26085087}. 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. Required for proper BBSome complex assembly and its ciliary localization. {ECO:0000269|PubMed:17574030, ECO:0000269|PubMed:22072986}.
uniprot
proteins
mass_dalton
99280
uniprot
proteins
mutagenesis
MUTAGEN 142; /note="S->G: Fails to restore protein stability; when associated with pathogenic variant BBS9 R-141."; /evidence="ECO:0000269|PubMed:26085087"; MUTAGEN 186; /note="Y->A: Fails to restore protein stability; when associated with pathogenic variant BBS9 R-141."; /evidence="ECO:0000269|PubMed:26085087
uniprot
proteins
pubmed
10221542
uniprot
proteins
pubmed
12618763
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16380913
uniprot
proteins
pubmed
17574030
uniprot
proteins
pubmed
21344540
uniprot
proteins
pubmed
22072986
uniprot
proteins
pubmed
26085087
uniprot
proteins
sequence_length
887
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite.
uniprot
proteins