ACTL9 (Actin Like 9)
A testis-specific actin-related protein involved in spermatogenesis and male fertility
Gene Information Card
| Symbol | ACTL9 |
|---|---|
| Full Name | Actin Like 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 284392 ncbi.nlm.nih.gov/gene/284392 |
| Ensembl ID | ENSG00000185818 |
| UniProt ID | Q5JYH5 |
| OMIM ID | 617592 |
| HGNC ID | 24025 |
| Aliases | ACTL7A, ACTL7B-related |
Description
ACTL9 encodes a member of the actin-related protein family that is specifically expressed in testis. The protein is involved in spermatogenesis, particularly in acrosome formation and sperm head morphogenesis. Mutations in ACTL9 are associated with male infertility due to spermatogenic failure.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (spermatogenic failure) | Loss-of-function mutations disrupt acrosome biogenesis and sperm head shaping | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Other tissues | <1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Testis (seminiferous tubule cells) | 12.5 | Primary expression site |
| Other cell lines | N/A | No significant expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense/start loss | Rare | Loss of protein function |
| c.104C>T (p.Thr35Met) | Missense | Rare | Impaired actin polymerization |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations lead to reduced or absent protein function, causing spermatogenic failure.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding (GO:0005524) | • structural constituent of cytoskeleton (GO:0005200) |
| • spermatogenesis (GO:0007283) | • actin cortical patch (GO:0030479) |
Pathways
• Spermatogenesis (Reactome: R-HSA-1500620)
Protein Summary
ACTL9 is a 376-amino acid actin-related protein with an ATP-binding domain. It localizes to the acrosome and cytoskeletal structures in developing spermatids. The protein is essential for acrosome biogenesis and sperm head elongation. Loss of function results in abnormal sperm morphology and infertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACTL9 Knockout HEK293 Cell Line | EDJ-KQ12273 | Human | 284382 | Details Get a Quote |
| ACTL9 Knockout HeLa Cell Line | EDJ-KQ59460 | Human | 284382 | Details Get a Quote |
| ACTL9 Knockout A-549 Cell Line | EDJ-KQ67924 | Human | 284382 | Details Get a Quote |
| ACTL9 Knockout HCT 116 Cell Line | EDJ-KQ76303 | Human | 284382 | Details Get a Quote |
