MARCHF7 Gene
Membrane Associated Ring-CH-Type Finger 7
Gene Information Card
| Symbol | MARCHF7 |
|---|---|
| Full Name | Membrane Associated Ring-CH-Type Finger 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q24.2 |
| NCBI Gene ID | 64844 ncbi.nlm.nih.gov/gene/64844 |
| Ensembl ID | ENSG00000115966 |
| UniProt ID | Q9H992 |
| OMIM ID | 613332 |
| HGNC ID | 26077 |
| Aliases | MARCH7, AXOT, RNF177 |
Description
MARCHF7 encodes a member of the membrane-associated RING-CH (MARCH) family of E3 ubiquitin ligases. The protein localizes to the plasma membrane and endosomal compartments, where it ubiquitinates target proteins to regulate endocytosis, intracellular trafficking, and immune signaling. MARCHF7 is involved in T-cell development and neuronal axon outgrowth.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in OMIM or ClinVar | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lymph node | 8.3 | Low |
| Testis | 7.1 | Low |
| Spleen | 6.9 | Low |
| Lung | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Moderate expression |
| Jurkat | 8.5 | T-cell line |
| SH-SY5Y | 7.8 | Neuronal cell line |
| HeLa | 6.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic mutations reported in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations in human disease.
Gain of Function (GOF)
No confirmed gain-of-function mutations.
Dominant Negative (DN)
No confirmed dominant-negative mutations.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin protein ligase activity | • zinc ion binding |
| • membrane | • endosome |
| • protein ubiquitination | • immune response |
Pathways
• Ubiquitin mediated proteolysis
• Endocytosis
• Immune system signaling
Protein Summary
MARCHF7 is a 707-amino acid E3 ubiquitin ligase with a RING-CH domain, two transmembrane domains, and a C-terminal PDZ-binding motif. It ubiquitinates membrane proteins such as MHC class II and transferrin receptor, influencing their internalization and degradation. The protein is highly expressed in brain and immune tissues, and plays roles in neuronal development and T-cell homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MARCHF7 Knockout HEK293 Cell Line | EDJ-KQ14201 | Human | 64844 | Details Get a Quote |
| MARCHF7 Knockout HeLa Cell Line | EDJ-KQ42937 | Human | 64844 | Details Get a Quote |
| MARCHF7 Knockout A-549 Cell Line | EDJ-KQ44151 | Human | 64844 | Details Get a Quote |
| MARCHF7 Knockout HCT 116 Cell Line | EDJ-KQ44152 | Human | 64844 | Details Get a Quote |
