ZPR1 Zinc Finger Protein
A conserved zinc finger protein involved in cell growth, proliferation, and signal transduction, with implications in cancer and developmental disorders.
Gene Information Card
| Symbol | ZPR1 |
|---|---|
| Full Name | ZPR1 zinc finger protein |
| Gene Type | Protein coding |
| Chromosomal Location | 11q23.3 |
| NCBI Gene ID | 8883 ncbi.nlm.nih.gov/gene/8883 |
| Ensembl ID | ENSG00000109944 |
| UniProt ID | O75312 |
| OMIM ID | 603901 |
| HGNC ID | 13057 |
| Aliases | ZNF259, ZPR1 zinc finger |
Description
ZPR1 (ZPR1 zinc finger protein) encodes a zinc finger protein that is evolutionarily conserved from yeast to humans. It plays a critical role in cell growth and proliferation by regulating signal transduction pathways, including the EGFR and PI3K/AKT pathways. ZPR1 is involved in ribosome biogenesis, mRNA processing, and cellular stress responses. Dysregulation of ZPR1 expression or function has been linked to various cancers and developmental abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression of ZPR1 promotes cell proliferation and tumor growth via activation of PI3K/AKT and MAPK signaling pathways. | COSMIC, NCBI PubMed |
| Developmental disorders | Mutations in ZPR1 may disrupt ribosome biogenesis and cellular homeostasis, leading to developmental phenotypes. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 10.8 | Medium |
| Brain | 8.5 | Low |
| Liver | 6.3 | Low |
| Kidney | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.4 | Cervical cancer cell line |
| A549 | 9.7 | Lung cancer cell line |
| MCF7 | 8.1 | Breast cancer cell line |
| HEK293 | 7.5 | Embryonic kidney cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | 0.01% | Unknown effect; reported in ClinVar |
| c.205G>A (p.Gly69Arg) | Missense | 0.005% | Likely benign; observed in population databases |
| c.412_413insA | Frameshift | <0.001% | Predicted loss of function; associated with developmental disorder |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.412_413insA) are predicted to cause loss of ZPR1 function, potentially impairing ribosome biogenesis and cell growth regulation.
Gain of Function (GOF)
Overexpression of wild-type ZPR1 in cancers suggests a gain-of-function role in promoting proliferation.
Dominant Negative (DN)
No dominant-negative mutations have been reported for ZPR1.
View complete mutation data:
Gene Ontology (GO)
| • zinc ion binding | • protein binding |
| • RNA binding | • regulation of cell growth |
| • signal transduction | • ribosome biogenesis |
| • mRNA processing |
Pathways
• PI3K/AKT signaling pathway
• MAPK signaling pathway
• EGFR signaling pathway
• Ribosome biogenesis in eukaryotes
Protein Summary
ZPR1 is a 459-amino acid zinc finger protein that localizes to the nucleus and cytoplasm. It contains two zinc finger domains and a coiled-coil region. The protein interacts with multiple signaling molecules, including EGFR, PI3K, and AKT, to regulate cell proliferation and survival. ZPR1 also participates in ribosome assembly and mRNA export. Its expression is tightly regulated during development and is often upregulated in cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZPR1 Knockout HEK293 Cell Line | EDJ-KQ50828 | Human | 8882 | Details Get a Quote |
| ZPR1 Knockout HeLa Cell Line | EDJ-KQ55028 | Human | 8882 | Details Get a Quote |
| ZPR1 Knockout A-549 Cell Line | EDJ-KQ63514 | Human | 8882 | Details Get a Quote |
| ZPR1 Knockout HCT 116 Cell Line | EDJ-KQ71980 | Human | 8882 | Details Get a Quote |