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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CFAP91
cilia and flagella associated protein 91
Chromosome 3 Β· 3q13.33
NCBI Gene: 89876Ensembl: ENSG00000183833.17HGNC: HGNC:24010UniProt: Q7Z4T9
17PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
spermatogenesisaxonemal central apparatus assemblyprotein bindingaxonemespermatogenic failure 51male infertility with teratozoospermia due to single gene mutationAbruptio Placentaehypothyroidism
✦AI Summary

CFAP91 (cilia and flagella associated protein 91) is an essential scaffolder protein that localizes to radial spoke (RS) structures within the axoneme of motile cilia and sperm flagella 1. The protein functions primarily as a structural component of the radial spoke complex, specifically stabilizing RS2 and RS3 base proteins and their adjacent inner dynein arms 1. CFAP91 interacts with multiple axonemal proteins including CFAP57, CFAP61, CFAP251, and LRRC23, and serves as a scaffolder for RS3 assembly 23. The protein also functions as a calmodulin-associated and spoke-associated complex (CSC) component and physically interacts with WDR66 4. Mechanistically, CFAP91 regulates cilium and flagellum motility by maintaining the positioning and stability of radial spokes, which transduce regulatory signals from the central pair apparatus to dynein arms 1. Loss of CFAP91 disrupts central pair complex organization and results in severely impaired axonemal beating 43. Clinically, biallelic CFAP91 variants (MAATS1 gene) cause multiple morphological abnormalities of the flagella (MMAF), characterized by severe central pair and radial spoke defects, leading to asthenozoospermia and primary male infertility 4. CFAP91-deficient males exhibit reduced sperm motility and compromised male fertility 3.

Sources cited
1
CFAP91 stabilizes RS2 and RS3 base proteins and inner dynein arms; its loss impairs radial spoke positioning and ciliary motility
PMID: 36552811
2
CFAP91 binds to CFAP57 and functions in axonemal stabilization through radial spoke organization
PMID: 39671309
3
CFAP91 is an RS3 protein essential for sperm flagellum formation; it scaffolds RS3 assembly and interacts with EFCAB5
PMID: 40931011
4
Biallelic CFAP91/MAATS1 variants cause MMAF with central pair and radial spoke defects; protein is essential for flagellum structure and function
PMID: 32161152
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
spermatogenic failure 51Open Targets
0.54Moderate
male infertility with teratozoospermia due to single gene mutationOpen Targets
0.42Moderate
Abruptio PlacentaeOpen Targets
0.41Moderate
hypothyroidismOpen Targets
0.23Weak
azoospermiaOpen Targets
0.04Suggestive
partial chromosome Y deletionOpen Targets
0.04Suggestive
ring chromosome YOpen Targets
0.04Suggestive
isochromosomy YpOpen Targets
0.04Suggestive
isochromosomy YqOpen Targets
0.03Suggestive
spermatogenic failure 57Open Targets
0.03Suggestive
spermatogenic failure 50Open Targets
0.03Suggestive
spermatogenic failure 25Open Targets
0.03Suggestive
spermatogenic failure 71Open Targets
0.03Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.03Suggestive
spermatogenic failure 63Open Targets
0.03Suggestive
46,XY partial gonadal dysgenesisOpen Targets
0.03Suggestive
spermatogenic failure 44Open Targets
0.03Suggestive
chronic kidney diseaseOpen Targets
0.02Suggestive
Abnormal sperm morphologyOpen Targets
0.02Suggestive
atrial fibrillationOpen Targets
0.02Suggestive
Spermatogenic failure 51UniProt
Pathogenic Variants2
NM_033364.4(CFAP91):c.1633C>T (p.Gln545Ter)Likely pathogenic
Spermatogenic failure 51
β˜…β˜†β˜†β˜†2022β†’ Residue 545
NM_033364.4(CFAP91):c.682+1G>APathogenic
Male infertility with teratozoospermia due to single gene mutation|Spermatogenic failure 51
β˜†β˜†β˜†β˜†2021
View on ClinVar β†—
Related Genes
AKAP1Protein interaction98%MYCBPProtein interaction94%CFAP43Protein interaction77%TTC29Protein interaction71%HYDINShared pathway67%DRC7Shared pathway40%
Tissue Expression6 tissues
Ovary
100%
Lung
14%
Brain
13%
Liver
9%
Heart
5%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
CFAP91AKAP1MYCBPCFAP43TTC29HYDINDRC7
PROTEIN STRUCTURE
Preparing viewer…
PDB8J07 Β· 4.10 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.13LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.91 [0.74–1.13]
RankingsWhere CFAP91 stands among ~20K protein-coding genes
  • #14,951of 20,598
    Most Researched17
  • #4,568of 5,498
    Most Pathogenic Variants2
  • #11,673of 17,882
    Most Constrained (LOEUF)1.13
Genes detectedCFAP91
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
CCDC113 stabilizes sperm axoneme and head-tail coupling apparatus to ensure male fertility.
PMID: 39671309
Elife Β· 2024
1.00
2
Cfap91-Dependent Stability of the RS2 and RS3 Base Proteins and Adjacent Inner Dynein Arms in
PMID: 36552811
Cells Β· 2022
0.90
3
Biallelic variants in
PMID: 32161152
J Med Genet Β· 2020
0.80
4
Proximity labeling of axonemal protein CFAP91 identifies EFCAB5 that regulates sperm motility.
PMID: 40931011
Nat Commun Β· 2025
0.70
5
Human AAT gene transfer to pig liver improved by using a perfusion isolated organ endovascular procedure.
PMID: 25911616
Eur Radiol Β· 2016
0.60