AlphaFold predicted structure
BBS9 · Q3SYG4
Mean pLDDT
85.1/ 100
Confident
887 residues
Confidence breakdown
- Very high(≥ 90)62%
- Confident(70–90)26%
- Low(50–70)4%
- Very low(< 50)9%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
BBS9
Chr 7p14.3Bardet-Biedl syndrome 9
- Aliases:
- B1, PTHB1
- MANE:
- ENST00000242067.11
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Bardet Biedl syndrome
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalLimb disorders
BIALLELIC, autosomal or pseudoautosomalOphthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalRare multisystem ciliopathy disorders
BIALLELIC, autosomal or pseudoautosomalRenal ciliopathies
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
Bardet-Biedl syndrome 9
0.80Bardet-Biedl syndrome
0.78Bardet-Biedl syndrome 1
0.55Retinal dystrophy
0.51polydactyly
0.46obesity disorder
0.44BBS9-related ciliopathy
0.41Abnormality of the eye
0.41obesity due to melanocortin 4 receptor deficiency
0.38Obesity
0.38
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Protein PTHB1
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
Diseases associated with BBS9
Curated MONDO disease pages that list BBS9 among their top associated genes.