MARCHF4
Membrane Associated Ring-CH-type Finger 4
Gene Information Card
| Symbol | MARCHF4 |
|---|---|
| Full Name | Membrane Associated Ring-CH-type Finger 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q35 |
| NCBI Gene ID | 57574 ncbi.nlm.nih.gov/gene/57574 |
| Ensembl ID | ENSG00000115970 |
| UniProt ID | Q9P2E3 |
| OMIM ID | 613334 |
| HGNC ID | 26037 |
| Aliases | MARCH4, RNF174 |
Description
MARCHF4 (Membrane Associated Ring-CH-type Finger 4) is a member of the MARCH family of RING-CH-type E3 ubiquitin ligases. It localizes to endosomal and lysosomal membranes and mediates ubiquitination of target proteins, including MHC class II molecules and CD83, thereby regulating their trafficking and degradation. MARCHF4 plays a role in immune evasion by downregulating cell surface immune receptors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Immune dysregulation | Downregulation of MHC class II and CD83 via ubiquitination | PMID: 16954373 |
| Viral infection | Exploitation of MARCHF4 by viruses to evade immune recognition | PMID: 19008854 |
| Cancer | Altered expression may affect tumor immune surveillance | PMID: 21957143 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Bone marrow | 8.2 | Low |
| Lung | 6.1 | Low |
| Testis | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | Moderate expression |
| HeLa | 9.7 | Low expression |
| Jurkat | 22.1 | High expression |
| THP-1 | 18.6 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.500G>A (p.Arg167Gln) | Missense | <0.01% | Unknown functional impact |
| c.763C>T (p.Arg255*) | Nonsense | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg255*) are predicted to truncate the protein, abolishing E3 ligase activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-protein transferase activity (GO:0004842) | • protein binding (GO:0005515) |
| • integral component of membrane (GO:0016021) | • endosome (GO:0005768) |
| • lysosome (GO:0005764) | • ubiquitin-dependent protein catabolic process (GO:0006511) |
| • protein ubiquitination (GO:0016567) | • ubiquitin-dependent endocytosis (GO:0043162) |
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• Endocytosis (KEGG: hsa04144)
• Antigen processing and presentation (KEGG: hsa04612)
Protein Summary
MARCHF4 is a 247-amino acid E3 ubiquitin ligase with a RING-CH domain. It ubiquitinates lysine residues on target proteins, promoting their internalization and degradation. The protein is anchored to endosomal/lysosomal membranes via two transmembrane domains. MARCHF4 is highly expressed in immune tissues and regulates surface levels of MHC class II and CD83, influencing antigen presentation and T-cell activation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MARCHF4 Knockout HEK293 Cell Line | EDJ-KQ14200 | Human | 57574 | Details Get a Quote |
| MARCHF4 Knockout A-549 Cell Line | EDJ-KQ44150 | Human | 57574 | Details Get a Quote |
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