AHI1

Chr 6q23.3

Abelson helper integration site 1

Aliases:: FLJ20069, ORF1, JBTS3
MANE:: ENST00000265602.11

OMIM: 608894 ↗NCBI: 54806 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

AHI1 · Q8N157

v62025-08-01

Predicted Aligned Error matrix for AHI1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

61.5/ 100

Low

1,196 residues

Confidence breakdown

Very high(≥ 90)17%
Confident(70–90)30%
Low(50–70)12%
Very low(< 50)41%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomal
Ophthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomal
Rare multisystem ciliopathy disorders
BIALLELIC, autosomal or pseudoautosomal
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomal
Retinal disorders
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

Joubert syndrome with ocular defect
0.81
Joubert syndrome 3
0.78
Joubert syndrome
0.76
retinitis pigmentosa
0.61
Joubert syndrome and related disorders
0.55
Retinal dystrophy
0.53
Rod-cone dystrophy
0.48
Joubert syndrome 1
0.48
asthma
0.48
hypothyroidism
0.44

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

Protein function (UniProt)

Jouberin

Involved in vesicle trafficking and required for ciliogenesis, formation of primary non-motile cilium, and recruitment of RAB8A to the basal body of primary cilium. Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in neuronal differentiation. As a positive modulator of classical Wnt signaling, may play a crucial role in ciliary signaling during cerebellum embryonic development (PubMed:21623382)