PDILT: Protein Disulfide Isomerase-Like, Testis-Expressed
A testis-specific chaperone involved in protein folding and sperm function
Gene Information Card
| Symbol | PDILT |
|---|---|
| Full Name | Protein Disulfide Isomerase-Like, Testis-Expressed |
| Gene Type | Protein-coding |
| Chromosomal Location | 16p12.3 |
| NCBI Gene ID | 204474 ncbi.nlm.nih.gov/gene/204474 |
| Ensembl ID | ENSG00000161980 |
| UniProt ID | Q8N807 |
| OMIM ID | 610946 |
| HGNC ID | 26219 |
| Aliases | PDIA5, UNQ3030 |
Description
PDILT (Protein Disulfide Isomerase-Like, Testis-Expressed) is a member of the protein disulfide isomerase (PDI) family, predominantly expressed in the testis. It functions as a chaperone and oxidoreductase, facilitating proper protein folding and disulfide bond formation during spermatogenesis. PDILT is essential for male fertility, particularly in the maturation of sperm surface proteins.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | PDILT deficiency disrupts disulfide bond formation in sperm proteins, impairing sperm motility and capacitation. | PMID: 20056604; OMIM 610946 |
| Non-obstructive azoospermia | Reduced PDILT expression correlates with impaired spermatogenesis. | PMID: 23348840 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 45.2 | High |
| Fallopian tube | 0.8 | Low |
| Prostate | 0.5 | Low |
| Other tissues | <0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatozoa | N/A | High expression in mature sperm |
| Testicular germ cells | N/A | Expressed in spermatocytes and spermatids |
| HEK293 | 0.1 | Minimal endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely null allele |
| c.104C>T (p.Pro35Leu) | Missense | 0.01% | Potential structural destabilization |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in catalytic domains reduce chaperone activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • protein disulfide isomerase activity (GO:0003756) | • endoplasmic reticulum (GO:0005783) |
| • protein folding (GO:0006457) | • spermatogenesis (GO:0007283) |
| • isomerase activity (GO:0016853) |
Pathways
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
• Disulfide bond formation (Reactome: R-HSA-8866654)
Protein Summary
PDILT is a 519-amino acid protein localized to the endoplasmic reticulum of testicular germ cells. It contains two thioredoxin-like domains (a and a') with CXXC active sites, enabling disulfide isomerase and chaperone functions. PDILT is critical for the oxidative folding of sperm surface proteins, including ADAM family members, and its absence leads to male infertility in mouse models.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDILT Knockout HEK293 Cell Line | EDJ-KQ5880 | Human | 204474 | Details Get a Quote |
| PDILT Knockout HeLa Cell Line | EDJ-KQ59053 | Human | 204474 | Details Get a Quote |
| PDILT Knockout A-549 Cell Line | EDJ-KQ67530 | Human | 204474 | Details Get a Quote |
| PDILT Knockout HCT 116 Cell Line | EDJ-KQ75927 | Human | 204474 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
