INTU

Chr 4q28.1

inturned planar cell polarity protein

Aliases:: KIAA1284, CPLANE4
MANE:: ENST00000335251.11

OMIM: 610621 ↗NCBI: 27152 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

INTU · Q9ULD6

v62025-08-01

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

Mean pLDDT

66.9/ 100

Low

942 residues

Confidence breakdown

Very high(≥ 90)19%
Confident(70–90)36%
Low(50–70)12%
Very low(< 50)32%

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
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomal
Thoracic dystrophies
Ductal plate malformation
BIALLELIC, autosomal or pseudoautosomal
Non-syndromic familial congenital anorectal malformations

Disease associations (Open Targets)

short rib dysplasia
0.56
short-rib thoracic dysplasia 7/20 with polydactyly, digenic
0.50
orofaciodigital syndrome 17
0.49
short-rib thoracic dysplasia 20 with polydactyly
0.47
INTU-related skeletal ciliopathy
0.37
orofaciodigital syndrome
0.37
ovarian neoplasm
0.33
neurodegenerative disease
0.33
short rib-polydactyly syndrome
0.32
open-angle glaucoma
0.30

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

Protein function (UniProt)

Protein inturned

Plays a key role in ciliogenesis and embryonic development. Regulator of cilia formation by controlling the organization of the apical actin cytoskeleton and the positioning of the basal bodies at the apical cell surface, which in turn is essential for the normal orientation of elongating ciliary microtubules. Plays a key role in definition of cell polarity via its role in ciliogenesis but not via conversion extension. Has an indirect effect on hedgehog signaling (By similarity). Proposed to function as core component of the CPLANE (ciliogenesis and planar polarity effectors) complex involved in the recruitment of peripheral IFT-A proteins to basal bodies (PubMed:27158779). Required for recruitment of CPLANE2 to the mother centriole (By similarity). Binds phosphatidylinositol 3-phosphate with highest affinity, followed by phosphatidylinositol 4-phosphate and phosphatidylinositol 5-phosphate (By similarity)