MAFF Gene (MAF BZIP Transcription Factor F)
A basic leucine zipper transcription factor involved in cellular stress response and differentiation.
Gene Information Card
| Symbol | MAFF |
|---|---|
| Full Name | MAF BZIP Transcription Factor F |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 23764 ncbi.nlm.nih.gov/gene/23764 |
| Ensembl ID | ENSG00000185022 |
| UniProt ID | Q9ULX9 |
| OMIM ID | 604877 |
| HGNC ID | 6780 |
| Aliases | hMAFF, U-MAF, MGC111024 |
Description
MAFF (MAF BZIP Transcription Factor F) is a protein-coding gene that belongs to the small MAF family of basic leucine zipper (bZIP) transcription factors. It forms heterodimers with CNC family proteins (e.g., NFE2, NRF1, NRF2) to regulate gene expression in response to oxidative stress, inflammation, and cellular differentiation. MAFF is involved in the antioxidant response element (ARE)-mediated gene expression and plays a role in hematopoiesis and immune regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute Myeloid Leukemia | MAFF overexpression may disrupt normal hematopoietic differentiation via altered ARE-mediated transcription. | PMID: 23555300 |
| Chronic Obstructive Pulmonary Disease (COPD) | MAFF dysregulation contributes to oxidative stress imbalance in lung epithelium. | PMID: 23911647 |
| Breast Cancer | MAFF expression correlates with poor prognosis; potential role in tumor progression via NRF2 pathway modulation. | PMID: 29367600 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Spleen | 8.3 | Medium |
| Bone Marrow | 6.7 | Low |
| Liver | 4.2 | Low |
| Kidney | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.2 | High expression |
| A549 (lung carcinoma) | 10.8 | Medium expression |
| HepG2 (hepatocellular carcinoma) | 5.6 | Low expression |
| MCF7 (breast carcinoma) | 4.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.157C>T (p.Arg53Cys) | Missense | <0.1% | Altered DNA-binding affinity |
| c.208G>A (p.Glu70Lys) | Missense | <0.1% | Potential loss of transactivation function |
| c.301_303del (p.Phe101del) | In-frame deletion | <0.1% | Disrupted dimerization |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the bZIP domain (e.g., p.Arg53Cys) reduce DNA binding and transactivation activity.
Gain of Function (GOF)
Not well documented; overexpression in certain cancers may confer gain-of-function effects via NRF2 pathway hyperactivation.
Dominant Negative (DN)
Deletion mutations (e.g., p.Phe101del) may produce truncated proteins that interfere with wild-type MAFF dimerization.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Antioxidant Response Element (ARE) pathway (Reactome: R-HSA-9759194)
• NRF2-mediated oxidative stress response (KEGG: hsa05208)
• Hematopoietic cell lineage (KEGG: hsa04640)
Protein Summary
The MAFF protein (UniProt Q9ULX9) is a 156-amino acid transcription factor containing a basic leucine zipper (bZIP) domain. It lacks a transactivation domain and functions primarily as a heterodimeric partner with CNC family proteins. MAFF binds to ARE/EpRE sequences in the promoters of target genes, regulating detoxification enzymes and antioxidant proteins. Post-translational modifications include phosphorylation and ubiquitination, which modulate its stability and activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAFF Knockout HEK293 Cell Line | EDJ-KQ51129 | Human | 23764 | Details Get a Quote |
| MAFF Knockout HeLa Cell Line | EDJ-KQ55802 | Human | 23764 | Details Get a Quote |
| MAFF Knockout A-549 Cell Line | EDJ-KQ64298 | Human | 23764 | Details Get a Quote |
| MAFF Knockout HCT 116 Cell Line | EDJ-KQ72747 | Human | 23764 | Details Get a Quote |
