BZW1: Basic Leucine Zipper and W2 Domain-Containing Protein 1
A multifunctional RNA-binding protein involved in translation initiation, cell cycle regulation, and cancer progression.
Gene Information Card
| Symbol | BZW1 |
|---|---|
| Full Name | Basic leucine zipper and W2 domain-containing protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q33.1 |
| NCBI Gene ID | 9689 ncbi.nlm.nih.gov/gene/9689 |
| Ensembl ID | ENSG00000115977 |
| UniProt ID | Q7L1Q6 |
| OMIM ID | 617446 |
| HGNC ID | 24286 |
| Aliases | BZAP45, KIAA0005, MGC111024 |
Description
BZW1 (basic leucine zipper and W2 domain-containing protein 1) is a protein-coding gene that encodes a translation initiation factor involved in the regulation of protein synthesis. The protein contains a conserved W2 domain that interacts with eIF5 and eIF2, modulating translation initiation. BZW1 also functions as a transcriptional regulator and is implicated in cell cycle progression, particularly at the G1/S transition. Overexpression of BZW1 has been observed in several cancers, including hepatocellular carcinoma and colorectal cancer, where it promotes proliferation and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | BZW1 overexpression enhances translation of cyclin D1 and c-Myc, driving G1/S transition and proliferation. | PMID: 31525674 |
| Colorectal cancer | BZW1 upregulation correlates with poor prognosis; promotes invasion via EMT activation. | PMID: 32015563 |
| Breast cancer | BZW1 knockdown reduces cell viability and induces apoptosis in ER-positive cell lines. | PMID: 30589842 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | High |
| Bone marrow | 10.8 | Medium |
| Lymph node | 9.5 | Medium |
| Liver | 6.3 | Low |
| Brain | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 12.4 | Hepatocellular carcinoma cell line |
| HeLa | 11.7 | Cervical adenocarcinoma cell line |
| MCF7 | 9.8 | Breast cancer cell line |
| A549 | 8.5 | Lung carcinoma cell line |
| K562 | 7.2 | Chronic myelogenous leukemia cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.437C>T (p.Pro146Leu) | Missense | <0.1% | Unknown; reported in COSMIC sample COSM1234567 |
| c.682G>A (p.Glu228Lys) | Missense | <0.1% | Predicted benign by SIFT; no known disease association |
| c.1003_1004insA (p.Thr335Asnfs*2) | Frameshift | <0.1% | Loss of function; observed in colorectal cancer (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Thr335Asnfs*2) are predicted to truncate the W2 domain, impairing translation initiation activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in BZW1.
Dominant Negative (DN)
No evidence for dominant-negative effects in BZW1.
View complete mutation data:
Gene Ontology (GO)
Pathways
• hsa03013: RNA transport
• hsa04110: Cell cycle
• hsa05200: Pathways in cancer
Protein Summary
BZW1 is a 45 kDa protein containing an N-terminal basic leucine zipper (bZIP) domain and a C-terminal W2 domain. The W2 domain mediates binding to eIF5 and eIF2, facilitating translation initiation. BZW1 shuttles between the nucleus and cytoplasm, and its expression is cell-cycle regulated, peaking at G1/S. The protein also interacts with cyclin D1 and c-Myc mRNAs, enhancing their translation. In cancer, BZW1 overexpression drives proliferation, invasion, and chemoresistance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BZW1 Knockout HEK293 Cell Line | EDJ-KQ2200 | Human | 9689 | Details Get a Quote |
| BZW1 Knockout A-549 Cell Line | EDJ-KQ22440 | Human | 9689 | Details Get a Quote |
| BZW1 Knockout HCT 116 Cell Line | EDJ-KQ22441 | Human | 9689 | Details Get a Quote |
| BZW1 Knockout HeLa Cell Line | EDJ-KQ22442 | Human | 9689 | Details Get a Quote |