MARCHF3 Gene
Membrane Associated Ring-CH-type Finger 3
Gene Information Card
| Symbol | MARCHF3 |
|---|---|
| Full Name | Membrane Associated Ring-CH-type Finger 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q23.2 |
| NCBI Gene ID | 115123 ncbi.nlm.nih.gov/gene/115123 |
| Ensembl ID | ENSG00000173926 |
| UniProt ID | Q86UD3 |
| OMIM ID | 613333 |
| HGNC ID | 26027 |
| Aliases | MARCH-III, RNF173 |
Description
MARCHF3 encodes a member of the membrane-associated RING-CH (MARCH) family of E3 ubiquitin ligases. The protein localizes to endosomal membranes and regulates trafficking and degradation of membrane proteins, including immune receptors. It plays a role in ubiquitin-mediated endocytosis and lysosomal degradation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease association reported in OMIM or ClinVar | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 8.3 | Low |
| Spleen | 7.1 | Low |
| Brain | 5.2 | Low |
| Liver | 3.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Moderate expression |
| HeLa | 7.5 | Low expression |
| K562 | 6.1 | Low expression |
| HepG2 | 4.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | missense | <0.01% (gnomAD) | Unknown functional effect |
| c.452G>A (p.Arg151His) | missense | <0.01% (gnomAD) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No dominant-negative variants described.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin protein ligase activity | • zinc ion binding |
| • endosome membrane | • protein ubiquitination |
| • intracellular protein transport |
Pathways
• Endosomal trafficking
• Ubiquitin-mediated proteolysis
Protein Summary
MARCHF3 is a 283-amino acid E3 ubiquitin ligase with a RING-CH domain. It ubiquitinates target membrane proteins, promoting their internalization and lysosomal degradation. The protein is involved in regulating cell surface receptor levels and immune signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MARCHF3 Knockout HEK293 Cell Line | EDJ-KQ7505 | Human | 115123 | Details Get a Quote |
| MARCHF3 Knockout HeLa Cell Line | EDJ-KQ31416 | Human | 115123 | Details Get a Quote |
| MARCHF3 Knockout A-549 Cell Line | EDJ-KQ32771 | Human | 115123 | Details Get a Quote |
| MARCHF3 Knockout HCT 116 Cell Line | EDJ-KQ32772 | Human | 115123 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
