CFAP53

Chr 18q21.1

cilia and flagella associated protein 53

Aliases:: FLJ32743
MANE:: ENST00000398545.5

OMIM: 614759 ↗NCBI: 220136 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CFAP53 · Q96M91

v62025-08-01

Predicted Aligned Error matrix for CFAP53 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

86.0/ 100

Confident

514 residues

Confidence breakdown

Very high(≥ 90)62%
Confident(70–90)25%
Low(50–70)8%
Very low(< 50)5%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Familial non syndromic congenital heart disease
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism
BIALLELIC, autosomal or pseudoautosomal
Paediatric disorders - additional genes
BIALLELIC, autosomal or pseudoautosomal
Rare multisystem ciliopathy disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Heterotaxia
0.69
visceral heterotaxy
0.47
Dextrocardia
0.45
Heterotaxy
0.40
Situs inversus totalis
0.37
transposition of the great arteries
0.37
Intestinal malrotation
0.37
hereditary disease
0.19
hypoplastic left heart syndrome
0.11
spermatogenic failure
0.06

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

Protein function (UniProt)

Cilia- and flagella-associated protein 53

Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (PubMed:36191189). Regulates motility patterns of both 9+0 and 9+2 motile cilia through differential localization and recruitment of axonemal dynein components (By similarity). Required for centriolar satellite integrity and non-motile cilium assembly (PubMed:26538025). Required for motile cilium formation (PubMed:26538025). Through its role in the beating of primary cilia, involved in the establishment of organ laterality during embryogenesis (PubMed:26531781). Required for sperm flagellum biogenesis and is essential for male fertility (By similarity)