NKX3-1 Gene
NK3 Homeobox 1: Prostate-Specific Tumor Suppressor and Transcription Factor
Gene Information Card
| Symbol | NKX3-1 |
|---|---|
| Full Name | NK3 Homeobox 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 8p21.2 |
| NCBI Gene ID | 4824 ncbi.nlm.nih.gov/gene/4824 |
| Ensembl ID | ENSG00000167034 |
| UniProt ID | Q99801 |
| OMIM ID | 602041 |
| HGNC ID | 7838 |
| Aliases | NKX3A, BAPX2, NKX3.1 |
Description
NKX3-1 is a homeobox gene that encodes a prostate-specific transcription factor essential for normal prostate development and function. It acts as a tumor suppressor by regulating cell growth, differentiation, and apoptosis in prostate epithelium. Loss of NKX3-1 expression is an early event in prostate carcinogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | Loss of NKX3-1 expression leads to disrupted epithelial differentiation and increased proliferation, contributing to tumor initiation and progression. | NCBI Gene, OMIM |
| Prostate intraepithelial neoplasia (PIN) | Heterozygous loss of NKX3-1 is associated with early PIN lesions in mouse models and human samples. | OMIM, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Prostate | 23.4 | High |
| Testis | 1.2 | Low |
| Uterus | 0.8 | Low |
| Breast | 0.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| LNCaP (prostate cancer) | 15.2 | Androgen-responsive; expresses NKX3-1 |
| PC-3 (prostate cancer) | 0.3 | Androgen-independent; low expression |
| DU145 (prostate cancer) | 0.2 | Androgen-independent; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.154C>T (p.Arg52*) | Nonsense | <1% | Premature stop; loss of function |
| c.233G>A (p.Arg78His) | Missense | <1% | Reduced DNA binding and transcriptional activity |
| c.340C>T (p.Arg114Trp) | Missense | <1% | Impaired nuclear localization and function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that reduce or abolish DNA binding, transcriptional activation, or nuclear localization.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0000978 – RNA polymerase II cis-regulatory region sequence-specific DNA binding | • GO:0000981 – DNA-binding transcription factor activity |
| • RNA polymerase II-specific | • GO:0005634 – nucleus |
| • GO:0006357 – regulation of transcription by RNA polymerase II | • GO:0008285 – negative regulation of cell population proliferation |
| • GO:0045944 – positive regulation of transcription by RNA polymerase II |
Pathways
• Androgen receptor signaling pathway
• Prostate cancer pathway (KEGG: hsa05215)
Protein Summary
NKX3-1 is a 234-amino acid homeodomain-containing transcription factor that binds to DNA as a monomer. It is predominantly expressed in the prostate epithelium and regulates genes involved in cell cycle arrest, apoptosis, and differentiation. The protein is androgen-regulated and its loss is a hallmark of early prostate cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NKX3-1 Knockout HEK293 Cell Line | EDJ-KQ5352 | Human | 4824 | Details Get a Quote |
| NKX3-1 Knockout A-549 Cell Line | EDJ-KQ28460 | Human | 4824 | Details Get a Quote |
| NKX3-1 Knockout HCT 116 Cell Line | EDJ-KQ28461 | Human | 4824 | Details Get a Quote |
| NKX3-1 Knockout HeLa Cell Line | EDJ-KQ28462 | Human | 4824 | Details Get a Quote |
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