MTFP1: Mitochondrial Fission Process 1
A key regulator of mitochondrial dynamics and apoptosis
Gene Information Card
| Symbol | MTFP1 |
|---|---|
| Full Name | Mitochondrial Fission Process 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q12.1 |
| NCBI Gene ID | 51507 ncbi.nlm.nih.gov/gene/51507 |
| Ensembl ID | ENSG00000100234 |
| UniProt ID | Q9UJS0 |
| OMIM ID | 614394 |
| HGNC ID | 26133 |
| Aliases | MTP18, HSPC229, PNAS-11, CGI-129 |
Description
MTFP1 (Mitochondrial Fission Process 1) encodes a mitochondrial inner membrane protein that promotes mitochondrial fission. It is essential for mitochondrial network fragmentation during apoptosis and plays a role in regulating mitochondrial morphology and cell death.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | MTFP1 overexpression promotes mitochondrial fragmentation and apoptosis resistance | PMID: 23395172 |
| Neurodegenerative disorders | Altered mitochondrial dynamics linked to MTFP1 dysregulation | PMID: 26058887 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Heart | 8.3 | Low |
| Brain | 6.1 | Low |
| Liver | 4.7 | Low |
| Kidney | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | Cervical cancer cell line |
| HEK293 | 8.9 | Embryonic kidney cells |
| K562 | 7.4 | Leukemia 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 | Missense | Rare | Unknown functional impact |
| c.202C>T | Nonsense | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to truncated protein; reduced mitochondrial fission
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial fission (GO:0000266) | • mitochondrion (GO:0005739) |
| • integral component of membrane (GO:0016021) | • positive regulation of apoptotic process (GO:0043065) |
Pathways
• Mitochondrial dynamics (Reactome: R-HSA-5205647)
Protein Summary
MTFP1 is a 18 kDa mitochondrial inner membrane protein that promotes mitochondrial fission. It is upregulated during apoptosis and its expression leads to mitochondrial fragmentation. The protein contains a transmembrane domain and is essential for normal mitochondrial network dynamics.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MTFP1 Knockout HEK293 Cell Line | EDJ-KQ51324 | Human | 51537 | Details Get a Quote |
| MTFP1 Knockout HeLa Cell Line | EDJ-KQ56324 | Human | 51537 | Details Get a Quote |
| MTFP1 Knockout A-549 Cell Line | EDJ-KQ64812 | Human | 51537 | Details Get a Quote |
| MTFP1 Knockout HCT 116 Cell Line | EDJ-KQ73256 | Human | 51537 | Details Get a Quote |
