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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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AKAP3
A-kinase anchoring protein 3
Chromosome 12 Β· 12p13.32
NCBI Gene: 10566Ensembl: ENSG00000111254.9HGNC: HGNC:373UniProt: O75969
35PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
sperm midpieceprotein bindingnucleussperm principal piecespermatogenic failure 82neurodegenerative diseaseMale infertility due to large-headed multiflagellar polyploid spermatozoapancreatic neoplasm
✦AI Summary

AKAP3 (A-kinase anchoring protein 3) is a structural component of the sperm fibrous sheath that plays a critical role in male fertility 1. The protein is essential for sperm flagellum structure formation, sperm motility, and male fertility by serving as a scaffolding protein that anchors protein kinase A to the fibrous sheath via the regulatory subunit of the kinase 2. AKAP3 functions through multiple mechanisms including protein-protein interactions, forming complexes with other fibrous sheath proteins such as CABYR and Ropporin 3. The protein undergoes tyrosine phosphorylation, which is crucial for sperm motility regulation, particularly when stimulated by bicarbonate through soluble adenylate cyclase activation 4. Additionally, AKAP3 is phosphorylated by STK33, which regulates fibrous sheath assembly during spermiogenesis 5. Disease relevance includes spermatogenic failure, as homozygous deleterious variants in AKAP3 cause multiple morphological abnormalities of sperm flagella (MMAF) and asthenoteratozoospermia 1. Clinical significance is demonstrated by the finding that AKAP3 expression levels may influence intracytoplasmic sperm injection (ICSI) treatment outcomes, with dosage-dependent effects on prognosis 1. The protein also interacts with other spermatogenic proteins like CEP135, contributing to proper flagellar development 6.

Sources cited
1
AKAP3 is essential for sperm flagellum structure formation, sperm motility, and male fertility, with homozygous variants causing MMAF and asthenoteratozoospermia
PMID: 35228300
2
AKAP3 is a structural protein of the fibrous sheath that anchors protein kinase A via the regulatory subunit
PMID: 11229805
3
AKAP3 forms complexes with other fibrous sheath proteins including CABYR and Ropporin
PMID: 21240291
4
AKAP3 undergoes tyrosine phosphorylation that is crucial for sperm motility regulation, stimulated by bicarbonate through soluble adenylate cyclase
PMID: 15342355
5
AKAP3 is phosphorylated by STK33, which regulates fibrous sheath assembly during spermiogenesis
PMID: 37146716
6
AKAP3 interacts with other spermatogenic proteins like CEP135, contributing to proper flagellar development
PMID: 40095067
Disease Associationsβ“˜21
spermatogenic failure 82Open Targets
0.43Moderate
neurodegenerative diseaseOpen Targets
0.40Moderate
Male infertility due to large-headed multiflagellar polyploid spermatozoaOpen Targets
0.39Weak
pancreatic neoplasmOpen Targets
0.15Weak
azoospermiaOpen Targets
0.11Weak
breast cancerOpen Targets
0.08Suggestive
partial chromosome Y deletionOpen Targets
0.07Suggestive
spermatogenic failure 19Open Targets
0.07Suggestive
spermatogenic failure 43Open Targets
0.07Suggestive
spermatogenic failure 45Open Targets
0.07Suggestive
spermatogenic failure 49Open Targets
0.07Suggestive
spermatogenic failure 18Open Targets
0.07Suggestive
spermatogenic failure 27Open Targets
0.07Suggestive
spermatogenic failure 46Open Targets
0.07Suggestive
spermatogenic failure 83Open Targets
0.07Suggestive
spermatogenic failure 72Open Targets
0.07Suggestive
spermatogenic failure, X-linked, 5Open Targets
0.07Suggestive
spermatogenic failure 65Open Targets
0.07Suggestive
spermatogenic failure 10Open Targets
0.07Suggestive
spermatogenic failure 11Open Targets
0.07Suggestive
Spermatogenic failure 82UniProt
Pathogenic Variants2
NM_001278309.2(AKAP3):c.2286_2287del (p.His762fs)Pathogenic
Spermatogenic failure 82
β˜†β˜†β˜†β˜†2025β†’ Residue 762
NM_001278309.2(AKAP3):c.44G>A (p.Cys15Tyr)Pathogenic
Spermatogenic failure 82
β˜†β˜†β˜†β˜†2025β†’ Residue 15
View on ClinVar β†—
Related Genes
ROPN1Protein interaction99%RHPN1Protein interaction99%SPA17Protein interaction98%ROPN1LProtein interaction94%AKAP1Protein interaction80%ODF1Protein interaction79%
Tissue Expression6 tissues
Heart
100%
Brain
51%
Liver
36%
Ovary
19%
Bone Marrow
15%
Lung
12%
Gene Interaction Network
Click a node to explore
AKAP3ROPN1RHPN1SPA17ROPN1LAKAP1ODF1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O75969
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.62LoF Tolerant
pLIβ“˜
0.02Tolerant
Observed/Expected LoF0.45 [0.33–0.62]
RankingsWhere AKAP3 stands among ~20K protein-coding genes
  • #10,907of 20,598
    Most Researched35
  • #4,484of 5,498
    Most Pathogenic Variants2
  • #4,348of 17,882
    Most Constrained (LOEUF)0.62 Β· top quartile
Genes detectedAKAP3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Structural modeling of human AKAP3 protein and in silico analysis of single nucleotide polymorphisms associated with sperm motility.
PMID: 35256641
Sci Rep Β· 2022
1.00
2
STK33 Phosphorylates Fibrous Sheath Protein AKAP3/4 to Regulate Sperm Flagella Assembly in Spermiogenesis.
PMID: 37146716
Mol Cell Proteomics Β· 2023
0.90
3
CABYR binds to AKAP3 and Ropporin in the human sperm fibrous sheath.
PMID: 21240291
Asian J Androl Β· 2011
0.80
4
Human OVGP1 enhances tyrosine phosphorylation of proteins in the fibrous sheath involving AKAP3 and increases sperm-zona binding.
PMID: 31254143
J Assist Reprod Genet Β· 2019
0.70
5
Homozygous variants in
PMID: 35228300
J Med Genet Β· 2023
0.60