ACTRT3 (Actin Related Protein T3)
A testis-specific actin-related protein involved in spermatogenesis and cytoskeletal dynamics.
Gene Information Card
| Symbol | ACTRT3 |
|---|---|
| Full Name | actin related protein T3 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q26.33 |
| NCBI Gene ID | 645784 ncbi.nlm.nih.gov/gene/645784 |
| Ensembl ID | ENSG00000196155 |
| UniProt ID | Q8N6H7 |
| OMIM ID | 611347 |
| HGNC ID | 24072 |
| Aliases | ARP-T3, ACTL7C |
Description
ACTRT3 (actin related protein T3) is a protein-coding gene located on chromosome 3q26.33. It encodes a member of the actin-related protein family that is specifically expressed in the testis. The protein is involved in cytoskeletal organization and plays a role in spermatogenesis, particularly in the formation of the acrosome and flagellum. ACTRT3 is also known as ARP-T3 or ACTL7C.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (spermatogenic failure) | Disruption of ACTRT3 may impair actin cytoskeleton dynamics in developing sperm, leading to defective acrosome or flagellum formation. | Limited evidence from case-control studies; further validation needed. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Fallopian tube | 0.3 | Not detected |
| Prostate | 0.2 | Not detected |
| Ovary | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Testis (seminoma cell line) | 2.1 | Low expression |
| HEK293 | 0.0 | Not detected |
| HeLa | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.IVS1+1G>A | Splice site | Rare | Likely loss of function; associated with spermatogenic failure |
| p.Arg97Cys | Missense | Rare | Unknown effect; reported in male infertility cohort |
Mutation functional classification
Loss of Function (LOF)
Splice-site mutations (e.g., c.IVS1+1G>A) are predicted to cause exon skipping or frameshift, leading to truncated or absent protein.
Gain of Function (GOF)
No gain-of-function mutations reported for ACTRT3.
Dominant Negative (DN)
No dominant-negative mutations reported for ACTRT3.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005200 (structural constituent of cytoskeleton) | • GO:0005856 (cytoskeleton) |
| • GO:0007283 (spermatogenesis) | • GO:0030479 (actin cortical patch) |
Pathways
• Cytoskeletal regulation by Rho GTPase (Reactome: R-HSA-194840)
• Spermatogenesis (KEGG: hsa04750)
Protein Summary
The ACTRT3 protein (UniProt Q8N6H7) is a 376-amino acid actin-related protein with a molecular weight of approximately 42 kDa. It contains an actin-like fold and is localized to the cytoskeleton. In testis, it is essential for the proper assembly of actin filaments during spermatid elongation and acrosome formation. The protein shares structural homology with conventional actin but has a testis-specific expression pattern.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACTRT3 Knockout HEK293 Cell Line | EDJ-KQ10104 | Human | 84517 | Details Get a Quote |
| ACTRT3 Knockout A-549 Cell Line | EDJ-KQ37188 | Human | 84517 | Details Get a Quote |
| ACTRT3 Knockout HCT 116 Cell Line | EDJ-KQ37189 | Human | 84517 | Details Get a Quote |
| ACTRT3 Knockout HeLa Cell Line | EDJ-KQ37190 | Human | 84517 | Details Get a Quote |
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