MZF1: Myeloid Zinc Finger 1 Transcription Factor
A key regulator of hematopoiesis and tumor suppression with roles in myeloid differentiation and cancer
Gene Information Card
| Symbol | MZF1 |
|---|---|
| Full Name | Myeloid Zinc Finger 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.43 |
| NCBI Gene ID | 7593 ncbi.nlm.nih.gov/gene/7593 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | P28698 |
| OMIM ID | 194550 |
| HGNC ID | 7568 |
| Aliases | MZF-1, ZNF42, ZSCAN6 |
Description
MZF1 (myeloid zinc finger 1) encodes a zinc finger transcription factor that plays a critical role in hematopoiesis, particularly in myeloid cell differentiation. It binds to specific DNA sequences to regulate gene expression involved in cell growth, apoptosis, and development. MZF1 is also implicated in tumor suppression, with loss or mutation observed in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute Myeloid Leukemia | MZF1 downregulation or loss of function disrupts myeloid differentiation, promoting leukemogenesis | ClinVar, COSMIC |
| Breast Cancer | MZF1 acts as a tumor suppressor; reduced expression correlates with poor prognosis | NCBI Gene, OMIM |
| Colorectal Cancer | MZF1 hypermethylation and silencing contribute to tumor progression | COSMIC, ClinVar |
| Myelodysplastic Syndromes | MZF1 mutations impair hematopoietic stem cell differentiation | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 12.5 | Medium |
| Spleen | 8.3 | Low |
| Lung | 6.1 | Low |
| Testis | 5.4 | Low |
| Kidney | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.2 | Myeloid lineage |
| HL-60 (promyelocytic) | 14.8 | Myeloid differentiation model |
| MCF-7 (breast cancer) | 3.1 | Reduced expression |
| HCT-116 (colorectal) | 2.5 | Silenced by methylation |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358Trp) | Missense | 0.5% | Loss of DNA binding |
| c.1456_1457del (p.Lys486fs) | Frameshift | 0.2% | Loss of function |
| c.1A>G (p.Met1Val) | Start loss | 0.1% | No protein expression |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the zinc finger domains, impairing DNA binding and transcriptional activation.
Gain of Function (GOF)
Not reported in MZF1; no activating mutations documented.
Dominant Negative (DN)
Missense mutations in the zinc finger region may interfere with wild-type MZF1 function, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
Pathways
• hsa05202: Transcriptional misregulation in cancer
• hsa04630: JAK-STAT signaling pathway
• hsa05200: Pathways in cancer
Protein Summary
MZF1 is a 486-amino acid zinc finger protein containing 13 C2H2-type zinc fingers and a SCAN domain. It localizes to the nucleus and functions as a transcription factor that activates or represses target genes involved in myeloid differentiation, cell cycle control, and apoptosis. The protein is highly expressed in hematopoietic tissues and is frequently downregulated in cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MZF1 Knockout HEK293 Cell Line | EDJ-KQ384 | Human | 7593 | Details Get a Quote |
| MZF1 Knockout A-549 Cell Line | EDJ-KQ19923 | Human | 7593 | Details Get a Quote |
| MZF1 Knockout HCT 116 Cell Line | EDJ-KQ19924 | Human | 7593 | Details Get a Quote |
| MZF1 Knockout HeLa Cell Line | EDJ-KQ19925 | Human | 7593 | Details Get a Quote |
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