BBIP1

Chr 10q25.2

BBSome interacting protein 1

Aliases:: bA348N5.3, BBIP10, BBS18
MANE:: ENST00000448814.7

OMIM: 613605 ↗NCBI: 92482 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

BBIP1 · A8MTZ0

v62025-08-01

Predicted Aligned Error matrix for BBIP1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

81.8/ 100

Confident

92 residues

Confidence breakdown

Very high(≥ 90)55%
Confident(70–90)14%
Low(50–70)28%
Very low(< 50)2%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Bardet Biedl syndrome
BIALLELIC, autosomal or pseudoautosomal
Limb disorders
BIALLELIC, autosomal or pseudoautosomal
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomal
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomal
Retinal disorders
BIALLELIC, autosomal or pseudoautosomal
Rare multisystem ciliopathy disorders
BIALLELIC, autosomal or pseudoautosomal
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Bardet-Biedl syndrome
0.64
ciliopathy
0.37
Rod-cone dystrophy
0.34
Obesity
0.33
Micropenis
0.33
Postaxial hand polydactyly
0.33
hypogonadotropic hypogonadism
0.33
Narrow forehead
0.33
Specific learning disability
0.33
Round face
0.33

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

BBSome-interacting protein 1

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 primary cilia assembly and BBSome stability. Regulates cytoplasmic microtubule stability and acetylation