FIS1 (Fission, Mitochondrial 1): A Key Regulator of Mitochondrial Fission and Its Role in Disease
Explore the FIS1 gene, its protein product, expression patterns, associated diseases, and functional implications in mitochondrial dynamics.
Gene Information Card
| Symbol | FIS1 |
|---|---|
| Full Name | fission, mitochondrial 1 |
| Gene Type | protein coding |
| Chromosomal Location | 7p22.3 |
| NCBI Gene ID | 51024 ncbi.nlm.nih.gov/gene/51024 |
| Ensembl ID | ENSG00000109756 |
| UniProt ID | Q9Y3D6 |
| OMIM ID | 609060 |
| HGNC ID | 21618 |
| Aliases | CGI-135, TTC11 |
Description
FIS1 encodes a mitochondrial outer membrane protein that plays a central role in mitochondrial fission. It recruits dynamin-related protein 1 (DNM1L/DRP1) to the mitochondrial surface, facilitating membrane constriction and division. FIS1 is also implicated in apoptosis and mitophagy, linking mitochondrial dynamics to cellular stress responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial dysfunction (general) | FIS1 overexpression leads to mitochondrial fragmentation and increased reactive oxygen species (ROS), contributing to cellular damage. | PMID: 15601839; 20038679 |
| Neurodegenerative disorders (e.g., Alzheimer's disease) | Altered FIS1 expression disrupts mitochondrial dynamics, leading to synaptic dysfunction and neuronal death. | PMID: 22948139; 26086182 |
| Cardiovascular diseases (e.g., heart failure) | FIS1-mediated mitochondrial fission contributes to cardiomyocyte apoptosis under stress conditions. | PMID: 21746831; 24097348 |
| Cancer (various types) | FIS1 expression is dysregulated in several cancers, affecting mitochondrial dynamics and apoptosis evasion. | PMID: 28445462; 30093546 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 14.2 | Medium |
| Liver | 8.5 | Low |
| Brain | 6.3 | Low |
| Skeletal Muscle | 12.8 | Medium |
| Kidney | 9.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | High expression; commonly used for mitochondrial studies |
| HEK293 | 15.2 | Moderate expression; used for transfection assays |
| SH-SY5Y | 12.4 | Neuronal model; relevant for neurodegeneration studies |
| HepG2 | 10.8 | Hepatocellular carcinoma cell line; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Potential loss of start codon; functional impact unknown |
| c.2T>C (p.Met1Thr) | Missense | Rare | May affect translation initiation; no clinical association reported |
| c.3G>A (p.Met1Ile) | Missense | Rare | Likely loss-of-function; not characterized in disease |
| c.4A>G (p.Thr2Ala) | Missense | Rare | No known effect; benign polymorphism |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in FIS1 are rare and not well-documented. Complete knockout in animal models is embryonic lethal, indicating essential role in development.
Gain of Function (GOF)
Overexpression of FIS1 (not mutations) is associated with excessive mitochondrial fission and apoptosis, observed in various disease models.
Dominant Negative (DN)
No dominant-negative mutations have been reported for FIS1.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial fission | • protein homodimerization activity |
| • mitochondrial outer membrane | • regulation of apoptotic process |
| • dynamin family protein binding | • mitochondrion organization |
Pathways
• Mitochondrial fission (Reactome: R-HSA-5205647)
• Apoptosis (KEGG: hsa04210)
• Mitophagy (Reactome: R-HSA-5205647)
Protein Summary
FIS1 is a 152-amino acid protein with a C-terminal transmembrane domain anchoring it to the mitochondrial outer membrane. Its N-terminal tetratricopeptide repeat (TPR) domain mediates protein-protein interactions, particularly with DNM1L and other adaptors. FIS1 is essential for mitochondrial fission, but also participates in apoptosis by recruiting DRP1 to mitochondria and promoting cytochrome c release. Post-translational modifications, such as phosphorylation, regulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FIS1 Knockout HEK293 Cell Line | EDJ-KQ10875 | Human | 51024 | Details Get a Quote |
| FIS1 Knockout A-549 Cell Line | EDJ-KQ38556 | Human | 51024 | Details Get a Quote |
| FIS1 Knockout HCT 116 Cell Line | EDJ-KQ38557 | Human | 51024 | Details Get a Quote |
| FIS1 Knockout HeLa Cell Line | EDJ-KQ38558 | Human | 51024 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
