KIAA0753

Chr 17p13.1

KIAA0753

Aliases:: OFIP, MNR
MANE:: ENST00000361413.8

OMIM: 617112 ↗NCBI: 9851 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

KIAA0753 · Q2KHM9

v62025-08-01

Predicted Aligned Error matrix for KIAA0753 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

58.6/ 100

Low

967 residues

Confidence breakdown

Very high(≥ 90)9%
Confident(70–90)27%
Low(50–70)18%
Very low(< 50)46%

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
Neurological ciliopathies
BIALLELIC, autosomal or pseudoautosomal
Rare multisystem ciliopathy disorders
BIALLELIC, autosomal or pseudoautosomal
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomal
Skeletal ciliopathies
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Joubert syndrome
0.69
short-rib thoracic dysplasia 21 without polydactyly
0.67
Joubert syndrome with orofaciodigital defect
0.67
Jeune syndrome
0.59
Joubert syndrome 38
0.58
hereditary disease
0.47
orofaciodigital syndrome type 6
0.37
neurodegenerative disease
0.34
hypothyroidism
0.34
hypertensive disorder
0.26

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

Protein function (UniProt)

Protein moonraker

Involved in centriole duplication (PubMed:24613305, PubMed:26297806). Positively regulates CEP63 centrosomal localization (PubMed:24613305, PubMed:26297806). Required for WDR62 centrosomal localization and promotes the centrosomal localization of CDK2 (PubMed:24613305, PubMed:26297806). May play a role in cilium assembly