MGRN1
Mahogunin Ring Finger 1, E3 Ubiquitin Protein Ligase
Gene Information Card
| Symbol | MGRN1 |
|---|---|
| Full Name | Mahogunin Ring Finger 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 23295 ncbi.nlm.nih.gov/gene/23295 |
| Ensembl ID | ENSG00000103168 |
| UniProt ID | Q9H1J7 |
| OMIM ID | 608124 |
| HGNC ID | 29560 |
| Aliases | KIAA0544, MGRN, RNF156 |
Description
MGRN1 encodes mahogunin ring finger 1, a RING finger domain-containing E3 ubiquitin ligase involved in protein ubiquitination and degradation. It plays roles in melanocortin signaling, mitochondrial dynamics, and endosomal trafficking. Mutations in MGRN1 are associated with pigmentation disorders and neurodegenerative phenotypes in model organisms.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypopigmentation (mouse model) | Loss of MGRN1 disrupts melanocortin-1 receptor signaling, reducing eumelanin production. | NCBI Gene, OMIM |
| Spongiform neurodegeneration (mouse model) | MGRN1 deficiency leads to mitochondrial dysfunction and accumulation of ubiquitinated proteins. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 10.2 | Medium |
| Heart | 6.8 | Low |
| Liver | 4.1 | Low |
| Skin | 12.5 | Medium |
| Testis | 15.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.5 | Moderate expression |
| SH-SY5Y | 11.2 | Neuronal cell line |
| Melanocytes | 14.8 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.334C>T (p.Arg112*) | Nonsense | Rare | Loss of function; associated with hypopigmentation in mice |
| c.1015G>A (p.Gly339Arg) | Missense | Rare | Impaired ubiquitin ligase activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that reduce or abolish E3 ubiquitin ligase activity lead to hypopigmentation and neurodegeneration.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • Ubiquitin protein ligase activity | • Protein ubiquitination |
| • Endosomal transport | • Mitochondrion organization |
| • Melanosome transport |
Pathways
• Ubiquitin-proteasome system
• Melanocortin signaling
• Endosomal sorting
Protein Summary
Mahogunin ring finger 1 is a 503-amino acid protein containing a RING finger domain at the C-terminus, which confers E3 ubiquitin ligase activity. It localizes to endosomes and mitochondria, regulating protein turnover and signaling. MGRN1 interacts with TSG101 and components of the ESCRT machinery, influencing endosomal trafficking.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MGRN1 Knockout HEK293 Cell Line | EDJ-KQ909 | Human | 23295 | Details Get a Quote |
| MGRN1 Knockout A-549 Cell Line | EDJ-KQ19761 | Human | 23295 | Details Get a Quote |
| MGRN1 Knockout HCT 116 Cell Line | EDJ-KQ19762 | Human | 23295 | Details Get a Quote |
| MGRN1 Knockout HeLa Cell Line | EDJ-KQ19763 | Human | 23295 | Details Get a Quote |
