PNLDC1
PARN Like Ribonuclease Domain Containing 1
Gene Information Card
| Symbol | PNLDC1 |
|---|---|
| Full Name | PARN Like Ribonuclease Domain Containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q25.3 |
| NCBI Gene ID | 154197 ncbi.nlm.nih.gov/gene/154197 |
| Ensembl ID | ENSG00000185758 |
| UniProt ID | Q8N8J0 |
| OMIM ID | 617220 |
| HGNC ID | 28323 |
| Aliases | MCPH7, PNLDC1, FLJ22531 |
Description
PNLDC1 encodes a 3'-5' exoribonuclease involved in piRNA biogenesis, specifically trimming the 3' ends of precursor piRNAs. It is essential for transposon silencing in germ cells and is highly expressed in testis. Mutations in PNLDC1 are associated with primary microcephaly and male infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary microcephaly (MCPH7) | Loss-of-function mutations impair piRNA processing, leading to genomic instability and reduced brain size | OMIM 617220 |
| Male infertility (non-obstructive azoospermia) | Defective piRNA trimming disrupts spermatogenesis | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Brain | 1.2 | Low |
| Ovary | 0.8 | Low |
| Heart | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (TCam-2) | 15.0 | Germ cell origin |
| HEK293 | 0.5 | Low expression |
| HeLa | 0.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1285C>T (p.Arg429*) | Nonsense | Rare | Loss of function; associated with microcephaly |
| c.1042G>A (p.Gly348Arg) | Missense | Rare | Impaired ribonuclease activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that reduce or abolish 3'-5' exoribonuclease activity, leading to piRNA processing defects.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • 3'-5'-exoribonuclease activity | • piRNA binding |
| • nucleic acid binding | • cytoplasm |
| • piRNA processing |
Pathways
• piRNA biogenesis
• transposon silencing
Protein Summary
PNLDC1 is a 3'-5' exoribonuclease that trims the 3' ends of precursor piRNAs in the cytoplasm. It is critical for piRNA maturation and transposon silencing in germ cells. The protein contains a conserved RNase D domain and is predominantly expressed in testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PNLDC1 Knockout HEK293 Cell Line | EDJ-KQ14816 | Human | 154197 | Details Get a Quote |
| PNLDC1 Knockout HCT 116 Cell Line | EDJ-KQ18092 | Human | 154197 | Details Get a Quote |
| PNLDC1 Knockout HeLa Cell Line | EDJ-KQ58737 | Human | 154197 | Details Get a Quote |
| PNLDC1 Knockout A-549 Cell Line | EDJ-KQ67222 | Human | 154197 | Details Get a Quote |
