PATJ

Chr 1p31.3

PATJ crumbs cell polarity complex component

Aliases:: Cipp
MANE:: ENST00000642238.2

OMIM: 603199 ↗NCBI: 10207 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

PATJ · Q8NI35

v62025-08-01

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

Mean pLDDT

61.0/ 100

Low

1,801 residues

Confidence breakdown

Very high(≥ 90)9%
Confident(70–90)42%
Low(50–70)8%
Very low(< 50)41%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Abnormality of the skeletal system
0.49
type 2 diabetes mellitus
0.43
obesity disorder
0.41
hypertensive disorder
0.40
essential hypertension
0.40
circadian rhythm
0.39
placental abruption
0.33
narcolepsy without cataplexy
0.32
Sjogren syndrome
0.31
Graves disease
0.29

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

Protein function (UniProt)

InaD-like protein

Scaffolding protein that facilitates the localization of proteins to the cell membrane (PubMed:11927608, PubMed:16678097, PubMed:22006950). Required for the correct formation of tight junctions and epithelial apico-basal polarity (PubMed:11927608, PubMed:16678097). Acts (via its L27 domain) as an apical connector and elongation factor for multistranded TJP1/ZO1 condensates that form a tight junction belt, thereby required for the formation of the tight junction-mediated cell barrier (By similarity). Positively regulates epithelial cell microtubule elongation and cell migration, possibly via facilitating localization of PRKCI/aPKC and PAR3D/PAR3 at the leading edge of migrating cells (By similarity). Plays a role in the correct reorientation of the microtubule-organizing center during epithelial migration (By similarity). May regulate the surface expression and/or function of ASIC3 in sensory neurons (By similarity). May recruit ARHGEF18 to apical cell-cell boundaries (PubMed:22006950)