MTFR1: Mitochondrial Fission Regulator 1
A key regulator of mitochondrial dynamics and cellular metabolism
Gene Information Card
| Symbol | MTFR1 |
|---|---|
| Full Name | Mitochondrial Fission Regulator 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q13.1 |
| NCBI Gene ID | 9650 ncbi.nlm.nih.gov/gene/9650 |
| Ensembl ID | ENSG00000104419 |
| UniProt ID | Q9H7Z6 |
| OMIM ID | 615553 |
| HGNC ID | 25287 |
| Aliases | CHPPR, FAM54A, MFR1, bA108K14.1 |
Description
MTFR1 (Mitochondrial Fission Regulator 1) is a protein-coding gene that encodes a mitochondrial protein involved in regulating mitochondrial fission. It plays a critical role in maintaining mitochondrial morphology, dynamics, and function. MTFR1 is essential for proper mitochondrial division, which is necessary for cellular energy production, apoptosis, and overall cellular homeostasis. The protein localizes to the mitochondrial outer membrane and interacts with other fission machinery components.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial disorders | Dysregulation of mitochondrial fission leads to impaired energy metabolism and cellular dysfunction | NCBI Gene, OMIM |
| Cancer (various types) | Altered MTFR1 expression may affect mitochondrial dynamics, influencing tumor growth and metastasis | COSMIC, NCBI Gene |
| Neurodegenerative diseases | Mitochondrial fission defects contribute to neuronal cell death and neurodegeneration | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Kidney | 7.1 | Medium |
| Brain | 6.4 | Medium |
| Skeletal muscle | 5.9 | Low |
| Lung | 4.8 | Low |
| Pancreas | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | Cervical cancer cell line |
| HEK293 | 9.5 | Embryonic kidney cells |
| HepG2 | 8.1 | Liver cancer cell line |
| SH-SY5Y | 7.3 | Neuroblastoma cell line |
| MCF7 | 6.8 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Alters protein structure, potential functional impact |
| c.250G>A (p.Gly84Ser) | Missense | <0.01% | Unknown significance |
| c.400_401insA | Frameshift | Rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in MTFR1 impair mitochondrial fission, leading to elongated mitochondria and reduced cellular energy production.
Gain of Function (GOF)
No gain-of-function mutations have been reported for MTFR1.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for MTFR1.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial fission | • mitochondrion organization |
| • mitochondrial outer membrane | • protein binding |
| • GTPase binding |
Pathways
• Mitochondrial dynamics
• Apoptosis
• Cellular energy metabolism
Protein Summary
MTFR1 is a 361-amino acid protein localized to the mitochondrial outer membrane. It contains a conserved domain involved in regulating mitochondrial fission. The protein interacts with dynamin-related protein 1 (DRP1) and other fission factors to promote mitochondrial division. MTFR1 is essential for maintaining mitochondrial network integrity and cellular energy homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MTFR1 Knockout HEK293 Cell Line | EDJ-KQ6023 | Human | 9650 | Details Get a Quote |
| MTFR1L Knockout HEK293 Cell Line | EDJ-KQ14329 | Human | 56181 | Details Get a Quote |
| MTFR1 Knockout A-549 Cell Line | EDJ-KQ31001 | Human | 9650 | Details Get a Quote |
| MTFR1 Knockout HCT 116 Cell Line | EDJ-KQ31003 | Human | 9650 | Details Get a Quote |
| MTFR1 Knockout HeLa Cell Line | EDJ-KQ31004 | Human | 9650 | 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 |
