KIRREL1

Chr 1q23.1

kirre like nephrin family adhesion molecule 1

Aliases:: NEPH1
MANE:: ENST00000359209.11

OMIM: 607428 ↗NCBI: 55243 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

KIRREL1 · Q96J84

v62025-08-01

Predicted Aligned Error matrix for KIRREL1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

75.9/ 100

Confident

757 residues

Confidence breakdown

Very high(≥ 90)56%
Confident(70–90)10%
Low(50–70)4%
Very low(< 50)30%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

nephrotic syndrome, type 23
0.46
Abnormality of the skeletal system
0.35
Decreased total leukocyte count
0.32
diabetes mellitus
0.29
alcohol drinking
0.29
refractive error
0.28
functional neutrophil defect
0.24
myopia
0.23
primary angle-closure glaucoma
0.23
Abnormality of refraction
0.20

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

Protein function (UniProt)

Kin of IRRE-like protein 1

Required for proper function of the glomerular filtration barrier. It is involved in the maintenance of a stable podocyte architecture with interdigitating foot processes connected by specialized cell-cell junctions, known as the slit diaphragm (PubMed:31472902). It is a signaling protein that needs the presence of TEC kinases to fully trans-activate the transcription factor AP-1 (By similarity)