MARCHF6
Membrane Associated Ring-CH-type Finger 6
Gene Information Card
| Symbol | MARCHF6 |
|---|---|
| Full Name | Membrane Associated Ring-CH-type Finger 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 5p15.2 |
| NCBI Gene ID | 10299 ncbi.nlm.nih.gov/gene/10299 |
| Ensembl ID | ENSG00000145495 |
| UniProt ID | O60337 |
| OMIM ID | 613334 |
| HGNC ID | 26077 |
| Aliases | MARCH6, RNF176, TEB4 |
Description
MARCHF6 encodes a member of the membrane-associated RING-CH (MARCH) family of E3 ubiquitin ligases. The protein localizes to the endoplasmic reticulum and is involved in ubiquitination and degradation of target proteins, including key regulators of lipid metabolism and protein quality control. It plays a role in the endoplasmic reticulum-associated degradation (ERAD) pathway.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Overexpression may promote tumor growth via altered ubiquitination | PMID: 31270520 |
| Non-alcoholic fatty liver disease | Regulation of lipid metabolism through ubiquitination of INSIG1 | PMID: 29590633 |
| Neurodegenerative disorders | Potential role in ERAD and protein aggregation | PMID: 25657058 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Low |
| Brain | 6.1 | Low |
| Heart | 5.4 | Low |
| Testis | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HEK293 | 10.8 | Embryonic kidney cells |
| SH-SY5Y | 7.5 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | 0.01% (gnomAD) | Unknown functional impact |
| c.567_569del (p.Glu189del) | In-frame deletion | Rare | Potential loss of E3 ligase activity |
Mutation functional classification
Loss of Function (LOF)
Deletions in the RING domain may impair ubiquitin ligase activity.
Gain of Function (GOF)
Not well characterized; some missense variants may alter substrate specificity.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-protein transferase activity (GO:0004842) | • endoplasmic reticulum (GO:0005783) |
| • ubiquitin-dependent protein catabolic process (GO:0006511) | • proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161) |
| • ER-associated ubiquitin-dependent protein catabolic process (GO:0030433) |
Pathways
• Endoplasmic reticulum-associated degradation (ERAD) pathway
• Ubiquitin-proteasome system
Protein Summary
MARCHF6 is a 903-amino acid E3 ubiquitin ligase with a RING-CH domain, multiple transmembrane domains, and a C-terminal cytoplasmic region. It ubiquitinates substrates such as INSIG1 and SQLE, regulating cholesterol homeostasis and ERAD. The protein is anchored in the endoplasmic reticulum membrane.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MARCHF6 Knockout HEK293 Cell Line | EDJ-KQ3806 | Human | 10299 | Details Get a Quote |
| MARCHF6 Knockout A-549 Cell Line | EDJ-KQ25928 | Human | 10299 | Details Get a Quote |
| MARCHF6 Knockout HeLa Cell Line | EDJ-KQ25930 | Human | 10299 | Details Get a Quote |
| MARCHF6 Knockout HCT 116 Cell Line | EDJ-KQ24570 | Human | 10299 | Details Get a Quote |
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