IQCB1

Chr 3q13.33

IQ motif containing B1

Aliases:: KIAA0036, NPHP5, SLSN5
MANE:: ENST00000310864.11

OMIM: 609237 ↗NCBI: 9657 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

IQCB1 · Q15051

v62025-08-01

Predicted Aligned Error matrix for IQCB1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

82.8/ 100

Confident

598 residues

Confidence breakdown

Very high(≥ 90)32%
Confident(70–90)55%
Low(50–70)9%
Very low(< 50)4%

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
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
Childhood onset dystonia, chorea or related movement disorder
Cystic kidney disease
Glaucoma (developmental)

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Disease associations (Open Targets)

Senior-Loken syndrome
0.74
Senior-Loken syndrome 5
0.71
Leber congenital amaurosis
0.68
nephronophthisis
0.57
Retinal dystrophy
0.55
retinal disorder
0.43
hereditary disease
0.41
ciliopathy
0.38
eye disorder
0.37
retinitis pigmentosa
0.35

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

Protein function (UniProt)

IQ calmodulin-binding motif-containing protein 1

Involved in ciliogenesis. The function in an early step in cilia formation depends on its association with CEP290/NPHP6 (PubMed:21565611, PubMed:23446637). Involved in regulation of the BBSome complex integrity, specifically for presence of BBS2 and BBS5 in the complex, and in ciliary targeting of selected BBSome cargos. May play a role in controlling entry of the BBSome complex to cilia possibly implicating CEP290/NPHP6 (PubMed:25552655)