MFHAS1: Multifunctional Regulator of Innate Immunity and Cancer
Comprehensive genomic and functional analysis of the MFHAS1 gene
Gene Information Card
| Symbol | MFHAS1 |
|---|---|
| Full Name | Malignant Fibrous Histiocytoma Amplified Sequence 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 8p23.1 |
| NCBI Gene ID | 9258 ncbi.nlm.nih.gov/gene/9258 |
| Ensembl ID | ENSG00000147324 |
| UniProt ID | Q9Y4C4 |
| OMIM ID | 605352 |
| HGNC ID | 7020 |
| Aliases | MASL1, FLJ10036, dJ266L20.1 |
Description
MFHAS1 (Malignant Fibrous Histiocytoma Amplified Sequence 1) is a protein-coding gene located on chromosome 8p23.1. It encodes a leucine-rich repeat (LRR) and coiled-coil domain-containing protein that functions as a negative regulator of Toll-like receptor (TLR) signaling, modulating the innate immune response. MFHAS1 is also implicated in oncogenesis, particularly in malignant fibrous histiocytoma and other cancers, where its amplification or overexpression may contribute to tumor progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Malignant Fibrous Histiocytoma | Amplification and overexpression of MFHAS1 contribute to tumorigenesis | COSMIC, NCBI Gene |
| Hepatocellular Carcinoma | Upregulation of MFHAS1 promotes cell proliferation and invasion via NF-κB pathway | PubMed, COSMIC |
| Breast Cancer | MFHAS1 overexpression associated with poor prognosis and immune evasion | COSMIC, ClinVar |
| Colorectal Cancer | MFHAS1 amplification linked to metastasis and chemoresistance | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 12.5 | Medium |
| Lymph Node | 10.2 | Medium |
| Spleen | 9.8 | Medium |
| Liver | 6.1 | Low |
| Lung | 5.3 | Low |
| Breast | 4.7 | Low |
| Colon | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Embryonic kidney, high expression |
| HeLa | 11.8 | Cervical cancer, moderate expression |
| HepG2 | 9.4 | Hepatocellular carcinoma, moderate expression |
| MCF7 | 7.1 | Breast cancer, low expression |
| A549 | 6.5 | Lung cancer, low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <1% | Unknown functional impact |
| c.1567G>A (p.Glu523Lys) | Missense | <1% | Potential loss of function |
| c.1789_1791del (p.Phe597del) | In-frame deletion | <0.5% | Altered protein stability |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants (e.g., p.Glu523Lys) may impair TLR signaling regulation.
Gain of Function (GOF)
Amplification of MFHAS1 in tumors leads to increased expression and oncogenic activity.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • negative regulation of Toll-like receptor signaling pathway | • innate immune response |
| • protein binding | • cytoplasm |
| • nucleus |
Pathways
• Toll-like receptor signaling pathway
• NF-κB signaling pathway
• Innate immune system
Protein Summary
The MFHAS1 protein contains leucine-rich repeats and a coiled-coil domain, localizing to the cytoplasm and nucleus. It negatively regulates TLR signaling by interacting with MyD88 and inhibiting NF-κB activation, thereby modulating inflammatory responses. In cancer, MFHAS1 overexpression promotes cell proliferation, invasion, and immune evasion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MFHAS1 Knockout HEK293 Cell Line | EDJ-KQ6528 | Human | 9258 | Details Get a Quote |
| MFHAS1 Knockout HeLa Cell Line | EDJ-KQ29346 | Human | 9258 | Details Get a Quote |
| MFHAS1 Knockout A-549 Cell Line | EDJ-KQ30688 | Human | 9258 | Details Get a Quote |
| MFHAS1 Knockout HCT 116 Cell Line | EDJ-KQ30689 | Human | 9258 | Details Get a Quote |
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