PIWIL1 Gene
Piwi Like RNA-Mediated Gene Silencing 1
Gene Information Card
| Symbol | PIWIL1 |
|---|---|
| Full Name | Piwi Like RNA-Mediated Gene Silencing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.33 |
| NCBI Gene ID | 9271 ncbi.nlm.nih.gov/gene/9271 |
| Ensembl ID | ENSG00000139618 |
| UniProt ID | Q96J94 |
| OMIM ID | 605571 |
| HGNC ID | 9007 |
| Aliases | HIWI, MIWI, PIWI |
Description
PIWIL1 (Piwi Like RNA-Mediated Gene Silencing 1) is a protein-coding gene that encodes a member of the Piwi subfamily of Argonaute proteins. It is essential for germ cell development, stem cell self-renewal, and transposon silencing via the piRNA (Piwi-interacting RNA) pathway. PIWIL1 is predominantly expressed in testis and is implicated in spermatogenesis, with aberrant expression linked to various cancers and infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure | Loss of PIWIL1 disrupts piRNA-mediated transposon silencing in germ cells, leading to meiotic arrest and defective spermatogenesis. | OMIM #605571; mouse knockout models show male infertility |
| Testicular germ cell tumors | Overexpression of PIWIL1 (HIWI) is associated with tumorigenesis and poor prognosis in testicular cancer. | COSMIC; multiple studies (e.g., PMID 17634559) |
| Breast cancer | PIWIL1 upregulation correlates with aggressive tumor features and may promote cancer stem cell maintenance. | COSMIC; PMID 25422437 |
| Gastric cancer | Elevated PIWIL1 expression is linked to lymph node metastasis and reduced survival. | COSMIC; PMID 23359680 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 42.3 | High |
| Ovary | 1.2 | Low |
| Brain | 0.5 | Not detected |
| Liver | 0.3 | Not detected |
| Heart | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NTERA-2 (embryonal carcinoma) | 15.8 | High expression; germ cell tumor line |
| HeLa (cervical carcinoma) | 0.2 | Very low expression |
| MCF7 (breast cancer) | 1.1 | Low expression |
| A549 (lung cancer) | 0.4 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Ter) | Nonsense | <0.1% | Loss of function; associated with spermatogenic failure |
| c.567G>A (p.Trp189Ter) | Nonsense | <0.1% | Premature stop; likely pathogenic in male infertility |
| c.890A>G (p.Gln297Arg) | Missense | 0.01% | Unknown significance; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412Ter) cause truncation of the Piwi domain, disrupting piRNA binding and transposon silencing, leading to meiotic arrest and infertility.
Gain of Function (GOF)
Not well characterized; overexpression in cancers suggests potential oncogenic gain-of-function via enhanced stemness pathways.
Dominant Negative (DN)
No dominant-negative mutations have been reported for PIWIL1.
View complete mutation data：
Gene Ontology (GO)
| • piRNA binding | • RNA endonuclease activity |
| • chromatin silencing | • germ cell development |
| • male meiosis I | • regulation of transposition |
Pathways
• piRNA-mediated transposon silencing
• Germ cell development
• Stem cell pluripotency
Protein Summary
PIWIL1 (HIWI) is a 861-amino acid protein containing an N-terminal PAZ domain and a C-terminal Piwi domain with RNase H-like endonuclease activity. It binds piRNAs to silence transposable elements in germ cells, maintaining genomic integrity. In somatic tissues, PIWIL1 is generally silenced, but its re-expression in cancers suggests a role in tumorigenesis via epigenetic reprogramming and stem cell maintenance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PIWIL1 Knockout HEK293 Cell Line | EDJ-KQ6533 | Human | 9271 | Details Get a Quote |
| PIWIL1 Knockout HeLa Cell Line | EDJ-KQ55118 | Human | 9271 | Details Get a Quote |
| PIWIL1 Knockout A-549 Cell Line | EDJ-KQ63597 | Human | 9271 | Details Get a Quote |
| PIWIL1 Knockout HCT 116 Cell Line | EDJ-KQ72062 | Human | 9271 | Details Get a Quote |
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