CFAP45

Chr 1q23.2

cilia and flagella associated protein 45

Aliases:: NESG1
MANE:: ENST00000368099.9

OMIM: 605152 ↗NCBI: 25790 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CFAP45 · Q9UL16

v62025-08-01

Predicted Aligned Error matrix for CFAP45 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

76.3/ 100

Confident

551 residues

Confidence breakdown

Very high(≥ 90)29%
Confident(70–90)42%
Low(50–70)16%
Very low(< 50)13%

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
Laterality disorders and isomerism
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

heterotaxy, visceral, 9, autosomal, with male infertility
0.66
situs inversus
0.37
Male infertility due to sperm motility disorder
0.37
neutropenia
0.20
Decreased total leukocyte count
0.18
nasopharyngeal carcinoma
0.10
non-small cell lung carcinoma
0.08
primary ciliary dyskinesia
0.07
Heterotaxia
0.06
VACTERL with hydrocephalus
0.05

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

Protein function (UniProt)

Cilia- and flagella-associated protein 45

Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (PubMed:36191189). It is an AMP-binding protein that may facilitate dynein ATPase-dependent ciliary and flagellar beating via adenine nucleotide homeostasis. May function as a donor of AMP to AK8 and hence promote ADP production (PubMed:33139725)