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.

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 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
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