ACTL7A: Actin-Like Protein 7A
A testis-specific actin-related protein involved in spermatogenesis and male fertility
Gene Information Card
| Symbol | ACTL7A |
|---|---|
| Full Name | Actin-like 7A |
| Gene Type | Protein coding |
| Chromosomal Location | 9q31.3 |
| NCBI Gene ID | 10881 ncbi.nlm.nih.gov/gene/10881 |
| Ensembl ID | ENSG00000107099 |
| UniProt ID | Q9Y615 |
| OMIM ID | 604303 |
| HGNC ID | 160 |
| Aliases | ACTL7, ARPM2 |
Description
ACTL7A encodes a member of the actin-related protein family that is specifically expressed in the testis. The protein localizes to the acrosomal region and flagellum of sperm, playing a critical role in acrosome formation, sperm motility, and male fertility. Mutations in ACTL7A are associated with spermatogenic failure and globozoospermia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure 84 | Loss-of-function mutations disrupt acrosome biogenesis and sperm head shaping | ClinVar, OMIM |
| Globozoospermia | Homozygous missense variants impair actin polymerization and acrosome attachment | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Fallopian tube | 0.2 | Not detected |
| Prostate | 0.1 | Not detected |
| Ovary | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Sperm | N/A | Detected by immunofluorescence |
| Testicular germ cells | N/A | High expression in spermatids |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.296A>G (p.Tyr99Cys) | Missense | Rare | Disrupts actin-like fold, associated with globozoospermia |
| c.1A>G (p.Met1?) | Start loss | Very rare | Loss of protein expression, spermatogenic failure |
| c.346C>T (p.Arg116Trp) | Missense | Rare | Impaired acrosome formation |
Mutation functional classification
Loss of Function (LOF)
Start-loss and nonsense mutations lead to absent or truncated protein, causing spermatogenic failure.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Missense variants may exert dominant-negative effects by interfering with actin polymerization in the acrosome.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • structural constituent of cytoskeleton |
| • spermatid development | • acrosome assembly |
| • sperm motility |
Pathways
• Spermatogenesis
• Actin cytoskeleton regulation
Protein Summary
ACTL7A is a 42 kDa actin-related protein with an ATP-binding domain. It polymerizes into filaments that are essential for acrosome biogenesis and sperm head elongation. The protein interacts with other actin-like proteins (e.g., ACTL7B) and is required for proper sperm morphology and motility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACTL7A Knockout HEK293 Cell Line | EDJ-KQ7200 | Human | 10881 | Details Get a Quote |
| ACTL7A Knockout HeLa Cell Line | EDJ-KQ55513 | Human | 10881 | Details Get a Quote |
| ACTL7A Knockout A-549 Cell Line | EDJ-KQ64003 | Human | 10881 | Details Get a Quote |
| ACTL7A Knockout HCT 116 Cell Line | EDJ-KQ72454 | Human | 10881 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
