ZFPM1: Zinc Finger Protein, FOG Family Member 1
A key transcriptional regulator in hematopoiesis and cardiac development
Gene Information Card
| Symbol | ZFPM1 |
|---|---|
| Full Name | Zinc Finger Protein, FOG Family Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q24.2 |
| NCBI Gene ID | 161882 ncbi.nlm.nih.gov/gene/161882 |
| Ensembl ID | ENSG00000161960 |
| UniProt ID | Q8IX07 |
| OMIM ID | 601950 |
| HGNC ID | 12830 |
| Aliases | FOG1, ZNF408, ZC2HC11A |
Description
ZFPM1 (Zinc Finger Protein, FOG Family Member 1) encodes a multi-zinc finger protein that functions as a cofactor for GATA transcription factors, particularly GATA1 and GATA2. It is essential for normal erythropoiesis, megakaryopoiesis, and cardiac development. ZFPM1 modulates GATA factor activity by either repressing or activating transcription depending on the cellular context.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diamond-Blackfan anemia-like phenotype | Disrupted GATA1-ZFPM1 interaction impairs erythroid differentiation | ClinVar, OMIM |
| Congenital heart defects (e.g., tetralogy of Fallot) | Altered cardiac gene regulation via GATA4-ZFPM1 interaction | OMIM, literature |
| Acute megakaryoblastic leukemia (AMKL) | ZFPM1 mutations may contribute to aberrant megakaryopoiesis | COSMIC, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Spleen | 8.3 | Low |
| Heart | 6.1 | Low |
| Lung | 4.2 | Low |
| Liver | 3.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (erythroleukemia) | 15.2 | High expression |
| HEL (erythroleukemia) | 11.8 | High expression |
| MEG-01 (megakaryoblastic) | 9.5 | Medium expression |
| HUVEC (endothelial) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012C>T (p.Arg338Trp) | Missense | <0.01% | Loss of GATA1 binding; associated with anemia |
| c.1456G>A (p.Glu486Lys) | Missense | <0.01% | Impaired transcriptional repression; linked to heart defects |
| c.1789_1790del (p.Leu597fs) | Frameshift | Rare | Loss of function; potential role in leukemia |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt zinc finger domains or GATA interaction reduce transcriptional regulation, leading to hematopoietic or cardiac defects.
Gain of Function (GOF)
Not well documented; no clear gain-of-function variants reported in major databases.
Dominant Negative (DN)
Some missense variants (e.g., p.Arg338Trp) may act dominant-negatively by sequestering GATA factors in non-functional complexes.
View complete mutation data：
Gene Ontology (GO)
Pathways
• GATA transcription factor pathway (Reactome: R-HSA-9619483)
• Erythropoietin signaling (KEGG: hsa04630)
• Megakaryocyte development and platelet production (Reactome: R-HSA-983231)
Protein Summary
ZFPM1 (FOG1) is a 1006-amino acid nuclear protein containing multiple zinc finger motifs. It lacks intrinsic DNA-binding activity but interacts with GATA factors (GATA1, GATA2, GATA4) via its N-terminal zinc fingers. This interaction modulates GATA-mediated transcription, critical for erythroid and megakaryocytic differentiation, as well as cardiac morphogenesis. ZFPM1 can both activate and repress transcription depending on the promoter context and associated cofactors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZFPM1 Knockout HEK293 Cell Line | EDJ-KQ16221 | Human | 161882 | Details Get a Quote |
| ZFPM1 Knockout A-549 Cell Line | EDJ-KQ47496 | Human | 161882 | Details Get a Quote |
| ZFPM1 Knockout HCT 116 Cell Line | EDJ-KQ47497 | Human | 161882 | Details Get a Quote |
| ZFPM1 Knockout HeLa Cell Line | EDJ-KQ47498 | Human | 161882 | Details Get a Quote |
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