MTFR1L Mitochondrial Fission Regulator 1 Like
A nuclear-encoded mitochondrial protein involved in mitochondrial dynamics and cellular metabolism.
Gene Information Card
| Symbol | MTFR1L |
|---|---|
| Full Name | Mitochondrial Fission Regulator 1 Like |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.13 |
| NCBI Gene ID | 25816 ncbi.nlm.nih.gov/gene/25816 |
| Ensembl ID | ENSG00000117525 |
| UniProt ID | Q9H019 |
| OMIM ID | 617900 |
| HGNC ID | 28787 |
| Aliases | C1orf54, MFR1L, bA37F17.2 |
Description
MTFR1L (Mitochondrial Fission Regulator 1 Like) is a protein-coding gene located on chromosome 1p36.13. It encodes a nuclear-encoded mitochondrial protein that is predicted to play a role in mitochondrial fission and dynamics. The protein is localized to the mitochondria and may be involved in regulating mitochondrial morphology and cellular energy metabolism. Expression data suggest broad tissue distribution with highest levels in the brain and heart.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not established | No evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 10.2 | Medium |
| Liver | 6.8 | Low |
| Kidney | 7.4 | Low |
| Lung | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 8.3 | Moderate expression |
| HeLa | 6.7 | Moderate expression |
| K562 | 4.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial fission (GO:0000266) | • mitochondrion (GO:0005739) |
| • protein binding (GO:0005515) |
Pathways
• Mitochondrial dynamics (Reactome: R-HSA-983168)
Protein Summary
MTFR1L encodes a 361-amino acid protein with a predicted mitochondrial targeting sequence. The protein is localized to the mitochondrial outer membrane and is thought to regulate mitochondrial fission, similar to its paralog MTFR1. It may interact with other mitochondrial dynamics proteins to modulate organelle morphology and cellular respiration. Structural predictions indicate a coiled-coil domain involved in protein-protein interactions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MTFR1L Knockout HEK293 Cell Line | EDJ-KQ14329 | Human | 56181 | Details Get a Quote |
| MTFR1L Knockout A-549 Cell Line | EDJ-KQ44430 | Human | 56181 | Details Get a Quote |
| MTFR1L Knockout HCT 116 Cell Line | EDJ-KQ44431 | Human | 56181 | Details Get a Quote |
| MTFR1L Knockout HeLa Cell Line | EDJ-KQ44432 | Human | 56181 | Details Get a Quote |
