TDRD1: Tudor Domain Containing 1
A key regulator of piRNA pathway and germ cell development
Gene Information Card
| Symbol | TDRD1 |
|---|---|
| Full Name | Tudor Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q25.3 |
| NCBI Gene ID | 56165 ncbi.nlm.nih.gov/gene/56165 |
| Ensembl ID | ENSG00000138185 |
| UniProt ID | Q9BXT4 |
| OMIM ID | 609501 |
| HGNC ID | 11717 |
| Aliases | MTR-1, CT41.1, TDRD1A, TDRD1B |
Description
TDRD1 (Tudor Domain Containing 1) encodes a protein that contains multiple Tudor domains and is involved in the piRNA (Piwi-interacting RNA) pathway. It localizes to nuage/p-granules in germ cells and is essential for spermatogenesis, transposon silencing, and germ cell development. TDRD1 interacts with PIWI proteins and is predominantly expressed in testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure | Loss of TDRD1 disrupts piRNA-mediated transposon silencing, leading to meiotic arrest and germ cell apoptosis | PMID: 19502785; OMIM 609501 |
| Testicular germ cell tumors | Overexpression of TDRD1 is observed in seminomas and may contribute to tumorigenesis via piRNA pathway dysregulation | PMID: 21573161; COSMIC analysis |
| Prostate cancer | TDRD1 is part of a gene fusion (TMPRSS2-ERG) co-expression signature and may promote oncogenic signaling | PMID: 23542342 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 127.5 | High |
| Ovary | 0.8 | Not detected |
| Brain | 0.2 | Not detected |
| Heart | 0.1 | Not detected |
| Liver | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (TCam-2) | 85.3 | High expression |
| Embryonic stem cell (H1) | 0.5 | Low/not detected |
| HeLa | 0.0 | Not detected |
| HEK293 | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% (gnomAD) | Loss of function; predicted to cause truncated protein |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% (gnomAD) | Loss of function; associated with spermatogenic failure |
| c.890A>G (p.Tyr297Cys) | Missense | 0.02% (gnomAD) | Uncertain significance; may affect Tudor domain structure |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) lead to premature stop codons and loss of protein function, impairing piRNA pathway and spermatogenesis.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in TDRD1.
Dominant Negative (DN)
No evidence for dominant-negative effects in TDRD1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• piRNA pathway (Reactome: R-HSA-5628897)
• Meiosis (KEGG: hsa04114)
• Germ cell development (WikiPathways: WP2854)
Protein Summary
TDRD1 is a 1007-amino acid protein containing five Tudor domains and a mitochondrial targeting signal. It localizes to nuage/p-granules in male germ cells, where it binds to PIWI proteins (PIWIL1, PIWIL2) and facilitates piRNA biogenesis and transposon silencing. The protein is essential for meiotic progression and spermatogenesis. Overexpression in testicular germ cell tumors suggests an oncogenic role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TDRD10 Knockout HEK293 Cell Line | EDJ-KQ8937 | Human | 126668 | Details Get a Quote |
| TDRD12 Knockout HEK293 Cell Line | EDJ-KQ10759 | Human | 91646 | Details Get a Quote |
| TDRD1 Knockout HEK293 Cell Line | EDJ-KQ15673 | Human | 56165 | Details Get a Quote |
| TDRD15 Knockout HEK293 Cell Line | EDJ-KQ15674 | Human | 100129278 | Details Get a Quote |
| TDRD1 Knockout HeLa Cell Line | EDJ-KQ56717 | Human | 56165 | Details Get a Quote |
| TDRD12 Knockout HeLa Cell Line | EDJ-KQ57807 | Human | 91646 | Details Get a Quote |
| TDRD10 Knockout HeLa Cell Line | EDJ-KQ58183 | Human | 126668 | Details Get a Quote |
| TDRD1 Knockout A-549 Cell Line | EDJ-KQ65222 | Human | 56165 | Details Get a Quote |
| TDRD12 Knockout A-549 Cell Line | EDJ-KQ66303 | Human | 91646 | Details Get a Quote |
| TDRD10 Knockout A-549 Cell Line | EDJ-KQ66673 | Human | 126668 | Details Get a Quote |
| TDRD1 Knockout HCT 116 Cell Line | EDJ-KQ73660 | Human | 56165 | Details Get a Quote |
| TDRD12 Knockout HCT 116 Cell Line | EDJ-KQ74727 | Human | 91646 | Details Get a Quote |
| TDRD10 Knockout HCT 116 Cell Line | EDJ-KQ75088 | Human | 126668 | Details Get a Quote |
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