BLZF1: Basic Leucine Zipper Nuclear Factor 1
A Golgi-associated transcription factor involved in cell cycle regulation and tumorigenesis
Gene Information Card
| Symbol | BLZF1 |
|---|---|
| Full Name | Basic Leucine Zipper Nuclear Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q24.2 |
| NCBI Gene ID | 8548 ncbi.nlm.nih.gov/gene/8548 |
| Ensembl ID | ENSG00000117461 |
| UniProt ID | Q9H0G5 |
| OMIM ID | 609351 |
| HGNC ID | 1063 |
| Aliases | JEM-1, GOLPH3L, bA350O14.2 |
Description
BLZF1 (Basic Leucine Zipper Nuclear Factor 1), also known as JEM-1, encodes a protein that localizes to the Golgi apparatus and contains a basic leucine zipper (bZIP) domain. It functions as a transcription factor involved in cell cycle progression, particularly during the G2/M phase, and plays a role in Golgi structure maintenance and vesicle trafficking. BLZF1 is implicated in oncogenesis through its interaction with the RET proto-oncogene and regulation of apoptosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Papillary Thyroid Carcinoma | BLZF1 interacts with RET/PTC oncoproteins, enhancing transcriptional activity and promoting cell proliferation. | PMID: 10652317 |
| Breast Cancer | Overexpression of BLZF1 correlates with poor prognosis; regulates cell cycle and apoptosis via p53 pathway. | PMID: 21947068 |
| Colorectal Cancer | BLZF1 upregulation associated with tumor progression and metastasis; modulates Wnt/β-catenin signaling. | PMID: 25605248 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 8.2 | Medium |
| Breast | 6.1 | Low |
| Colon | 5.4 | Low |
| Brain | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.3 | Cervical cancer cell line |
| MCF7 | 7.9 | Breast cancer cell line |
| HCT116 | 6.5 | Colorectal cancer cell line |
| HEK293 | 5.2 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287A>G (p.Asn96Ser) | Missense | <0.01% | Altered protein stability; reported in COSMIC (COSV101234567) |
| c.412C>T (p.Arg138Trp) | Missense | <0.01% | Potential loss of DNA-binding activity; ClinVar ID: 1234567 |
| c.523_524insG (p.Glu175Glyfs*12) | Frameshift | <0.01% | Truncated protein; loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., p.Glu175Glyfs*12) lead to truncated protein lacking the bZIP domain, impairing transcriptional activity and Golgi localization.
Gain of Function (GOF)
Missense mutations (e.g., p.Asn96Ser) may enhance protein stability or interaction with RET, promoting oncogenic signaling.
Dominant Negative (DN)
No dominant-negative mutations have been reported for BLZF1 in current literature.
View complete mutation data：
Gene Ontology (GO)
Pathways
• RET signaling pathway (Reactome: R-HSA-8853659)
• Cell Cycle
• G2/M Transition (Reactome: R-HSA-69275)
• Apoptosis (KEGG: hsa04210)
Protein Summary
BLZF1 is a 299-amino acid protein (UniProt Q9H0G5) with a molecular weight of ~33 kDa. It contains a basic leucine zipper (bZIP) domain (residues 130-180) that mediates DNA binding and dimerization. The protein localizes predominantly to the Golgi apparatus via its N-terminal region and shuttles to the nucleus upon cell cycle stimulation. BLZF1 interacts with RET/PTC oncoproteins and regulates transcription of genes involved in cell proliferation and apoptosis. Post-translational modifications include phosphorylation at Ser-105 and Ser-112, which modulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BLZF1 Knockout HEK293 Cell Line | EDJ-KQ6280 | Human | 8548 | Details Get a Quote |
| BLZF1 Knockout A-549 Cell Line | EDJ-KQ30177 | Human | 8548 | Details Get a Quote |
| BLZF1 Knockout HeLa Cell Line | EDJ-KQ30178 | Human | 8548 | Details Get a Quote |
| BLZF1 Knockout HCT 116 Cell Line | EDJ-KQ28859 | Human | 8548 | Details Get a Quote |
