ZER1: A Zinc Finger Protein Involved in Ubiquitination and Cell Cycle Regulation
Comprehensive genomic, expression, and clinical insights into ZER1 (ZYG-11 related, cell cycle regulator), a substrate recognition component of the CUL2-RING E3 ubiquitin ligase complex.
Gene Information Card
| Symbol | ZER1 |
|---|---|
| Full Name | ZYG-11 related, cell cycle regulator |
| Gene Type | protein coding |
| Chromosomal Location | 9q34.11 |
| NCBI Gene ID | 10444 ncbi.nlm.nih.gov/gene/10444 |
| Ensembl ID | ENSG00000107104 |
| UniProt ID | Q7Z7L7 |
| OMIM ID | 611516 |
| HGNC ID | 30923 |
| Aliases | ZYG11B, FLJ10895, C9orf60 |
Description
ZER1 (ZYG-11 related, cell cycle regulator) encodes a zinc finger protein that functions as a substrate recognition subunit of the CUL2-RING E3 ubiquitin ligase complex. It is involved in cell cycle progression, particularly in mitotic exit and G1 phase regulation, by targeting specific proteins for ubiquitin-mediated degradation. ZER1 is also implicated in embryonic development and has been studied in the context of cancer and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression may affect ubiquitination of cell cycle regulators, promoting tumorigenesis. | COSMIC: mutations and expression changes observed in multiple cancer types; ClinVar: variants of uncertain significance. |
| Developmental disorders | Potential role in embryogenesis; variants may disrupt cell cycle regulation. | OMIM: gene associated with phenotypes; limited clinical evidence. |
| Infertility | Involved in oocyte maturation and early embryonic development; dysregulation may affect fertility. | UniProt: functional studies in model organisms. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 25.3 | High |
| Bone marrow | 12.1 | Medium |
| Lymph node | 10.5 | Medium |
| Spleen | 9.8 | Medium |
| Brain | 6.2 | Low |
| Liver | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 15.2 | Leukemia cell line; moderate expression |
| HeLa | 8.7 | Cervical cancer; low expression |
| A549 | 7.3 | Lung carcinoma; low expression |
| HepG2 | 5.1 | Liver cancer; very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Lys412Glu) | Missense | 0.01% (gnomAD) | Potential impact on protein stability; uncertain clinical significance. |
| c.567delC (p.Leu190Trpfs*13) | Frameshift | Rare | Predicted loss of function; may affect ubiquitin ligase activity. |
| c.890C>T (p.Pro297Leu) | Missense | 0.02% (gnomAD) | Located in zinc finger domain; may alter substrate binding. |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely lead to truncated protein, impairing substrate recognition and ubiquitination, potentially causing cell cycle defects.
Gain of Function (GOF)
No clear gain-of-function mutations reported; overexpression may enhance degradation of tumor suppressors, but not confirmed.
Dominant Negative (DN)
Missense mutations in critical domains may interfere with complex assembly, acting dominant-negative, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-protein transferase activity | • zinc ion binding |
| • protein binding | • cell cycle |
| • ubiquitin-dependent protein catabolic process | • mitotic cell cycle |
Pathways
• CUL2-RING ubiquitin ligase complex
• Cell cycle regulation
• Ubiquitin-mediated proteolysis
Protein Summary
ZER1 is a 748-amino acid protein containing a zinc finger domain and a C-terminal region that mediates interaction with CUL2 and elongin BC complex. It serves as a substrate receptor for the E3 ubiquitin ligase, targeting proteins such as cyclin-dependent kinase inhibitors for degradation, thereby promoting cell cycle progression. Its expression is enriched in testis and immune tissues, suggesting roles in gametogenesis and hematopoiesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZER1 Knockout HEK293 Cell Line | EDJ-KQ2983 | Human | 10444 | Details Get a Quote |
| ZER1 Knockout A-549 Cell Line | EDJ-KQ25535 | Human | 10444 | Details Get a Quote |
| ZER1 Knockout HCT 116 Cell Line | EDJ-KQ25537 | Human | 10444 | Details Get a Quote |
| ZER1 Knockout HeLa Cell Line | EDJ-KQ25538 | Human | 10444 | Details Get a Quote |
