ACTL8: Actin-Like Protein 8
A testis-specific actin-related protein involved in spermatogenesis and potential cancer biomarker
Gene Information Card
| Symbol | ACTL8 |
|---|---|
| Full Name | Actin-Like 8 |
| Gene Type | Protein-coding |
| Chromosomal Location | 1p36.13 |
| NCBI Gene ID | 81569 ncbi.nlm.nih.gov/gene/81569 |
| Ensembl ID | ENSG00000117500 |
| UniProt ID | Q9H568 |
| OMIM ID | 612088 |
| HGNC ID | 24027 |
| Aliases | CT57, MGC129660, MGC129661 |
Description
ACTL8 encodes a member of the actin-related protein family that is predominantly expressed in testis. The protein is classified as a cancer-testis antigen (CT57) and is implicated in spermatogenesis. Its expression is frequently upregulated in various cancers, making it a potential biomarker and immunotherapeutic target.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Overexpression as cancer-testis antigen; potential immune recognition | COSMIC, literature |
| Male infertility | Reduced expression in spermatogenic failure | OMIM, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 27.8 | High |
| Brain | 0.2 | Not detected |
| Liver | 0.1 | Not detected |
| Heart | 0.1 | Not detected |
| Kidney | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NTERA-2 (embryonal carcinoma) | 15.3 | Cancer-testis expression |
| A549 (lung carcinoma) | 0.5 | Low |
| HeLa (cervical carcinoma) | 0.3 | Low |
| MCF7 (breast carcinoma) | 0.2 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | <0.1% | Loss of start codon; likely loss of function |
| c.214C>T (p.Arg72Cys) | Missense | <0.1% | Unknown significance |
| c.487G>A (p.Gly163Ser) | Missense | <0.1% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Start codon loss (p.Met1Val) likely abolishes translation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • ATP binding |
| • nucleotide binding | • cytoplasm |
| • cytoskeleton |
Pathways
• Spermatogenesis
• Cancer-testis antigen expression
Protein Summary
ACTL8 is a 376-amino acid actin-related protein with an ATP-binding domain. It localizes to the cytoplasm and is thought to participate in cytoskeletal dynamics during spermatogenesis. As a cancer-testis antigen, it is re-expressed in multiple tumor types, eliciting immune responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACTL8 Knockout HEK293 Cell Line | EDJ-KQ9715 | Human | 81569 | Details Get a Quote |
| ACTL8 Knockout A-549 Cell Line | EDJ-KQ36516 | Human | 81569 | Details Get a Quote |
| ACTL8 Knockout HCT 116 Cell Line | EDJ-KQ36517 | Human | 81569 | Details Get a Quote |
| ACTL8 Knockout HeLa Cell Line | EDJ-KQ36518 | Human | 81569 | Details Get a Quote |
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