MARCHF9: Membrane Associated Ring-CH-Type Finger 9
E3 ubiquitin-protein ligase involved in immune regulation and protein trafficking
Gene Information Card
| Symbol | MARCHF9 |
|---|---|
| Full Name | Membrane Associated Ring-CH-Type Finger 9 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q14.1 |
| NCBI Gene ID | 92979 ncbi.nlm.nih.gov/gene/92979 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q86YJ6 |
| OMIM ID | 613334 |
| HGNC ID | 26077 |
| Aliases | MARCH-IX, RNF179, MARCH9 |
Description
MARCHF9 encodes a member of the membrane-associated RING-CH (MARCH) family of E3 ubiquitin ligases. The protein localizes to endosomes and the plasma membrane, where it ubiquitinates target proteins to regulate their trafficking, stability, and degradation. MARCHF9 plays a role in immune modulation by downregulating cell surface molecules such as MHC class I and CD86, and is involved in endosomal sorting and vesicle-mediated transport.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Immunodeficiency | Potential dysregulation of immune receptor turnover via ubiquitination | Inferred from functional studies (UniProt) |
| Cancer (various) | Altered expression may affect immune evasion and tumor progression | COSMIC mutation data; limited clinical evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Bone marrow | 8.2 | Medium |
| Lung | 6.4 | Low |
| Testis | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | High expression |
| Jurkat | 12.1 | Medium expression |
| HeLa | 9.7 | Medium expression |
| K562 | 7.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.347G>A (p.Arg116His) | Missense | <0.1% (COSMIC) | Unknown functional impact |
| c.502C>T (p.Arg168Trp) | Missense | <0.1% (COSMIC) | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-protein transferase activity (GO:0004842) | • protein binding (GO:0005515) |
| • integral component of membrane (GO:0016021) | • protein ubiquitination (GO:0016567) |
| • endocytic recycling (GO:0032456) | • intracellular membrane-bounded organelle (GO:0043231) |
Pathways
• Endosomal sorting and ubiquitination (Reactome: R-HSA-917729)
• Antigen processing and presentation (Reactome: R-HSA-983170)
Protein Summary
MARCHF9 is a 307-amino acid E3 ubiquitin ligase with a RING-CH domain and two transmembrane regions. It ubiquitinates membrane proteins, targeting them for lysosomal degradation or recycling. The protein is involved in immune regulation by modulating surface expression of costimulatory and antigen-presenting molecules.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MARCHF9 Knockout HEK293 Cell Line | EDJ-KQ11136 | Human | 92979 | Details Get a Quote |
| MARCHF9 Knockout A-549 Cell Line | EDJ-KQ39130 | Human | 92979 | Details Get a Quote |
| MARCHF9 Knockout HCT 116 Cell Line | EDJ-KQ39131 | Human | 92979 | Details Get a Quote |
| MARCHF9 Knockout HeLa Cell Line | EDJ-KQ37818 | Human | 92979 | Details Get a Quote |
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