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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TDRD1
tudor domain containing 1
Chromosome 10 Β· 10q25.3
NCBI Gene: 56165Ensembl: ENSG00000095627.10HGNC: HGNC:11712UniProt: A0A140VJW6
26PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
spermatogenesispi-bodyP granule organizationpiRNA processingmale infertilitylysosomal lipid storage disorderHirsutismcardiovascular disease
✦AI Summary

TDRD1 (Tudor Domain Containing 1) plays a central role in spermatogenesis by regulating piRNA biogenesis and transposon silencing essential for germline integrity 1. The protein functions through phase separation, where its tetramerized coiled-coil domain and dimethylarginine-binding Tudor domains drive the assembly of intermitochondrial cement (IMC) granules among clustered mitochondria in germ cells 2. TDRD1 works in concert with PIWI proteins (PIWIL1 and PIWIL2) to form complexes that orchestrate piRNA biogenesis machinery assembly and disassembly during mammalian spermatogenesis 3. Disruption of TDRD1 function leads to impaired piRNA processing, transposon de-repression, and spermatogenic failure, contributing to male infertility 1. Clinically, TDRD1 is aberrantly expressed in prostate cancer as a cancer/testis antigen, where it regulates cell proliferation through interactions with the snRNP biogenesis machinery and PRMT5 signaling 4. TDRD1 expression levels are significantly reduced in various forms of non-obstructive azoospermia, correlating with impaired spermatogenesis 5. The gene serves as both a biomarker for prostate cancer diagnosis and a potential therapeutic target, while also functioning as a predictor of biochemical recurrence in high-risk prostate cancer patients 67.

Sources cited
1
TDRD1 variants cause piRNA dysfunction, transposon de-repression, and human male infertility
PMID: 39122675
2
TDRD1 phase separation drives intermitochondrial cement assembly for piRNA biogenesis
PMID: 39029469
3
TDRD1 works with PIWI proteins to orchestrate piRNA biogenesis machinery assembly
PMID: 41023308
4
TDRD1 regulates prostate cancer proliferation through snRNP biogenesis machinery
PMID: 37041411
5
TDRD1 expression is reduced in various forms of azoospermia
PMID: 32059713
6
TDRD1 is a cancer/testis antigen and prostate cancer biomarker
PMID: 27272765
7
TDRD1 methylation predicts biochemical recurrence in high-risk prostate cancer
PMID: 24938434
Disease Associationsβ“˜20
male infertilityOpen Targets
0.27Weak
lysosomal lipid storage disorderOpen Targets
0.25Weak
HirsutismOpen Targets
0.20Weak
cardiovascular diseaseOpen Targets
0.10Weak
azoospermiaOpen Targets
0.10Suggestive
prostate cancerOpen Targets
0.08Suggestive
hypertensionOpen Targets
0.08Suggestive
partial chromosome Y deletionOpen Targets
0.08Suggestive
spermatogenic failure 50Open Targets
0.06Suggestive
spermatogenic failure 57Open Targets
0.06Suggestive
spermatogenic failure 25Open Targets
0.06Suggestive
spinocerebellar ataxia type 32Open Targets
0.06Suggestive
isochromosomy YpOpen Targets
0.06Suggestive
spermatogenic failure 61Open Targets
0.06Suggestive
spermatogenic failure 62Open Targets
0.06Suggestive
spermatogenic failure 88Open Targets
0.06Suggestive
spermatogenic failure 59Open Targets
0.06Suggestive
spermatogenic failure 60Open Targets
0.06Suggestive
spermatogenic failure 73Open Targets
0.06Suggestive
spermatogenic failure 74Open Targets
0.06Suggestive
Pathogenic Variants1
NM_001395205.1(TDRD1):c.887C>A (p.Ser296Tyr)Likely pathogenic
Male infertility
β˜…β˜†β˜†β˜†2023β†’ Residue 296
View on ClinVar β†—
Related Genes
PIWIL1Protein interaction97%ASZ1Protein interaction92%E2F1Protein interaction90%HENMT1Protein interaction89%MOV10L1Protein interaction82%TDRKHProtein interaction77%
Tissue Expression6 tissues
Heart
100%
Ovary
14%
Brain
10%
Liver
5%
Lung
2%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
TDRD1PIWIL1ASZ1E2F1HENMT1MOV10L1TDRKH
PROTEIN STRUCTURE
Preparing viewer…
PDB5M9N Β· 1.95 Γ… Β· X-ray
View on RCSB β†—
RankingsWhere TDRD1 stands among ~20K protein-coding genes
  • #12,898of 20,598
    Most Researched26
  • #5,307of 5,498
    Most Pathogenic Variants1
Genes detectedTDRD1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Inherited defects of piRNA biogenesis cause transposon de-repression, impaired spermatogenesis, and human male infertility.
PMID: 39122675
Nat Commun Β· 2024
1.00
2
TDRD1 phase separation drives intermitochondrial cement assembly to promote piRNA biogenesis and fertility.
PMID: 39029469
Dev Cell Β· 2024
0.90
3
The Germ Cell Gene TDRD1 as an ERG Target Gene and a Novel Prostate Cancer Biomarker.
PMID: 27272765
Prostate Β· 2016
0.80
4
PIWI proteins tether the piRNA biogenesis machinery to mitochondria during mammalian spermatogenesis.
PMID: 41023308
EMBO J Β· 2025
0.70
5
The cancer testis antigen TDRD1 regulates prostate cancer proliferation by associating with the snRNP biogenesis machinery.
PMID: 37041411
Oncogene Β· 2023
0.60