ACTRT1: Actin-Related Protein T1
A testis-specific actin-related protein involved in spermatogenesis
Gene Information Card
| Symbol | ACTRT1 |
|---|---|
| Full Name | actin related protein T1 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq26.3 |
| NCBI Gene ID | 139741 ncbi.nlm.nih.gov/gene/139741 |
| Ensembl ID | ENSG00000101986 |
| UniProt ID | Q8N6H7 |
| OMIM ID | 300338 |
| HGNC ID | 240 |
| Aliases | ARP-T1, ACTL1, ARPT1 |
Description
ACTRT1 (actin related protein T1) is a protein-coding gene located on the X chromosome. It encodes a testis-specific actin-related protein that is involved in spermatogenesis, particularly in the formation of the acrosome and sperm head structure. The protein shares structural similarity with conventional actin but has distinct functions in male germ cell development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (spermatogenic failure) | Disruption of ACTRT1 may impair acrosome formation and sperm head shaping, leading to reduced fertility. | ClinVar, OMIM |
| No other confirmed disease associations | Insufficient evidence for other conditions. | NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 48.2 | High |
| Other tissues | <1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Testicular germ cells (spermatocytes, spermatids) | High | Testis-specific expression |
| Somatic cell lines (e.g., HEK293, HeLa) | <0.5 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Potential loss of start codon, likely loss of function |
| c.100C>T (p.Arg34Trp) | Missense | Rare | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Likely due to start codon loss or truncating variants, leading to impaired spermatogenesis.
Gain of Function (GOF)
No evidence.
Dominant Negative (DN)
No evidence.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005200 (structural constituent of cytoskeleton) | • GO:0005886 (plasma membrane) |
| • GO:0005737 (cytoplasm) | • GO:0007283 (spermatogenesis) |
| • GO:0030479 (actin cortical patch) |
Pathways
• Not assigned to any canonical pathway in Reactome or KEGG.
Protein Summary
ACTRT1 encodes a 376-amino acid protein (actin-related protein T1) that is predominantly expressed in the testis. It localizes to the acrosome and sperm head, where it contributes to cytoskeletal organization and spermatid elongation. The protein contains an actin-like fold but lacks ATP-binding activity typical of conventional actins.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACTRT1 Knockout HEK293 Cell Line | EDJ-KQ9600 | Human | 139741 | Details Get a Quote |
| ACTRT1 Knockout HeLa Cell Line | EDJ-KQ58422 | Human | 139741 | Details Get a Quote |
| ACTRT1 Knockout A-549 Cell Line | EDJ-KQ66911 | Human | 139741 | Details Get a Quote |
| ACTRT1 Knockout HCT 116 Cell Line | EDJ-KQ75314 | Human | 139741 | Details Get a Quote |
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