MLF1 (Myeloid Leukemia Factor 1) Gene
A gene encoding a nucleolar protein implicated in hematopoiesis and leukemogenesis
Gene Information Card
| Symbol | MLF1 |
|---|---|
| Full Name | Myeloid Leukemia Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q25.32 |
| NCBI Gene ID | 4291 ncbi.nlm.nih.gov/gene/4291 |
| Ensembl ID | ENSG00000178053 |
| UniProt ID | P58340 |
| OMIM ID | 601402 |
| HGNC ID | 7125 |
| Aliases | MGC117256, MGC117257 |
Description
MLF1 (myeloid leukemia factor 1) is a protein-coding gene located on chromosome 3q25.32. The encoded protein is a nucleolar factor involved in cell cycle regulation and hematopoiesis. It is frequently dysregulated in acute myeloid leukemia (AML) through chromosomal translocations, particularly t(3;5)(q25;q34) which fuses MLF1 with NPM1, leading to a chimeric oncoprotein. MLF1 plays a role in erythroid differentiation and is implicated in leukemogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute Myeloid Leukemia (AML) | Fusion of MLF1 with NPM1 via t(3;5)(q25;q34) creates an NPM1-MLF1 chimeric protein that disrupts normal nucleolar function and promotes leukemogenesis. | OMIM #601402; COSMIC; ClinVar |
| Myelodysplastic Syndrome (MDS) | MLF1 overexpression or rearrangement may contribute to dysplastic hematopoiesis and progression to AML. | COSMIC; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 12.5 | Medium |
| Spleen | 8.3 | Low |
| Lymph Node | 6.1 | Low |
| Testis | 4.7 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 15.2 | High expression; erythroleukemia cell line |
| HL-60 (promyelocytic) | 10.8 | Moderate expression |
| HEK293 (embryonic kidney) | 3.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| NPM1-MLF1 fusion | Translocation | Rare | Oncogenic; disrupts nucleolar localization and cell cycle control |
| c.200C>T (p.Ala67Val) | Missense | <0.1% | Unknown significance; reported in COSMIC |
| c.415G>A (p.Gly139Arg) | Missense | <0.1% | Unknown significance; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in MLF1.
Gain of Function (GOF)
The NPM1-MLF1 fusion protein acts as a gain-of-function oncoprotein by altering nucleolar dynamics and promoting leukemogenesis.
Dominant Negative (DN)
Not established for MLF1.
View complete mutation data：
Gene Ontology (GO)
| • nucleolus (GO:0005730) | • protein binding (GO:0005515) |
| • negative regulation of cell cycle (GO:0045786) | • regulation of hematopoietic stem cell differentiation (GO:1902038) |
Pathways
• Acute myeloid leukemia (KEGG: hsa05221)
• Transcriptional misregulation in cancer (KEGG: hsa05202)
Protein Summary
The MLF1 protein (UniProt P58340) is a 268-amino acid nucleolar factor with a conserved N-terminal domain. It is involved in cell cycle arrest and erythroid differentiation. The protein localizes to the nucleolus and interacts with NPM1. In AML, the t(3;5) translocation fuses MLF1 to NPM1, generating an NPM1-MLF1 chimeric protein that mislocalizes to the cytoplasm and disrupts normal nucleolar function, contributing to leukemogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MLF1 Knockout HEK293 Cell Line | EDJ-KQ3436 | Human | 4291 | Details Get a Quote |
| MLF1 Knockout A-549 Cell Line | EDJ-KQ25164 | Human | 4291 | Details Get a Quote |
| MLF1 Knockout HCT 116 Cell Line | EDJ-KQ25165 | Human | 4291 | Details Get a Quote |
| MLF1 Knockout HeLa Cell Line | EDJ-KQ25166 | Human | 4291 | Details Get a Quote |
