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6 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ACTRT3
actin related protein T3
Chromosome 3 · 3q26.2
NCBI Gene: 84517Ensembl: ENSG00000184378.4HGNC: HGNC:24022UniProt: Q9BYD9
9PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingactin cytoskeletonstructural constituent of cytoskeletonnucleusdyskeratosis congenitaidiopathic aplastic anemiaaplastic anemiaidiopathic pulmonary fibrosis
✦AI Summary

ACTRT3 (actin-related protein T3) is a cytoskeletal protein localized to the perinuclear theca of spermatids that functions in acrosome biogenesis and sperm development 1. ACTRT3 operates as part of a three-dimensional protein scaffold in the perinuclear theca, interacting with multiple proteins including ACTRT1, ACTRT2, ACTL7A, SPEM2, and ZPBP 1. The protein regulates actin cytoskeleton remodeling, as expression of ACTRT3 induces changes in cell shape and F-actin filament distribution 1. Mechanistically, ACTRT3 facilitates Golgi trafficking and autophagic flux necessary for acrosome formation; its loss impairs Golgi protein localization and reduces autophagy markers LC3B, CTSB, and mTOR 1. Actin-related proteins like ACTRT3 are evolutionarily conserved and involved in cytoskeletal organization across tissues 2. Beyond reproductive function, ACTRT3 has disease relevance to cancer susceptibility: genome-wide and transcriptome-wide association studies identified ACTRT3 at the 3q26 locus as associated with multiple primary cancer development, suggesting involvement in telomere maintenance pathways 34. Additionally, systems biology analysis identified ACTRT3 as a central gene in B cell activation networks, indicating roles in immune regulation 5.

Sources cited
1
ACTRT3 is localized to perinuclear theca, required for acrosome biogenesis, affects Golgi trafficking and autophagic flux, interacts with perinuclear theca and sperm surface proteins, and regulates cytoskeletal remodeling through actin filament organization
PMID: 41668650
2
ACTRT3 at 3q26 locus is associated with multiple primary cancer susceptibility through telomere maintenance pathways
PMID: 39910817
3
ACTRT3 at 3q26 locus associates with multiple primary cancer development via telomere maintenance mechanisms
PMID: 39574869
4
ACTRT3 is identified as a crucial/central gene in B cell activation networks with Th1 helper cells
PMID: 31524152
5
Actin-related proteins show similarity to conventional actin and are involved in cytoskeletal organization across tissues
PMID: 11750065
Disease Associationsⓘ20
dyskeratosis congenitaOpen Targets
0.55Moderate
idiopathic aplastic anemiaOpen Targets
0.54Moderate
aplastic anemiaOpen Targets
0.52Moderate
idiopathic pulmonary fibrosisOpen Targets
0.43Moderate
clear cell renal carcinomaOpen Targets
0.34Weak
paroxysmal nocturnal hemoglobinuria 1Open Targets
0.33Weak
telomere syndromeOpen Targets
0.33Weak
hypertensionOpen Targets
0.30Weak
lung adenocarcinomaOpen Targets
0.29Weak
uterine fibroidOpen Targets
0.27Weak
lymphoid leukemiaOpen Targets
0.27Weak
multiple myelomaOpen Targets
0.26Weak
chronic lymphocytic leukemiaOpen Targets
0.26Weak
kidney cancerOpen Targets
0.26Weak
benign neoplasm of skinOpen Targets
0.25Weak
renal carcinomaOpen Targets
0.24Weak
leukemiaOpen Targets
0.24Weak
cutaneous melanomaOpen Targets
0.23Weak
urinary bladder cancerOpen Targets
0.22Weak
skin lipomaOpen Targets
0.22Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CFAP410Shared pathway100%CCDC6Shared pathway100%ACTR1BShared pathway100%FTCDShared pathway100%ACTL7BShared pathway100%ACTR10Shared pathway100%
Tissue Expression6 tissues
Liver
100%
Ovary
54%
Brain
39%
Lung
26%
Heart
25%
Bone Marrow
22%
Gene Interaction Network
Click a node to explore
ACTRT3CFAP410CCDC6ACTR1BFTCDACTL7BACTR10
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9BYD9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.24LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.86 [0.61–1.24]
RankingsWhere ACTRT3 stands among ~20K protein-coding genes
  • #17,258of 20,598
    Most Researched9
  • #13,108of 17,882
    Most Constrained (LOEUF)1.24
Genes detectedACTRT3
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
Unraveling the genetic landscape of susceptibility to multiple primary cancers.
PMID: 39910817
HGG Adv · 2025
1.00
2
Actin-related protein T3 is required for acrosome biogenesis and sperm function in mice.
PMID: 41668650
Development · 2026
0.83
3
Assessment of the genes and molecular mechanisms of B cells activation through systems biology approaches.
PMID: 31524152
Hum Antibodies · 2020
0.67
4
Unraveling the genetic landscape of susceptibility to multiple primary cancers.
PMID: 39574869
medRxiv · 2024
0.50
5
Dynactin is necessary for synapse stabilization.
PMID: 12062020
Neuron · 2002
0.33