TOMM70: Translocase of Outer Mitochondrial Membrane 70
A key mitochondrial import receptor involved in protein translocation, innate immunity, and cellular stress responses.
Gene Information Card
| Symbol | TOMM70 |
|---|---|
| Full Name | Translocase of Outer Mitochondrial Membrane 70 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q13.2 |
| NCBI Gene ID | 9868 ncbi.nlm.nih.gov/gene/9868 |
| Ensembl ID | ENSG00000114779 |
| UniProt ID | O94826 |
| OMIM ID | 605081 |
| HGNC ID | 11985 |
| Aliases | TOMM70A, KIAA0719, TOM70, TOM70A |
Description
TOMM70 encodes the translocase of outer mitochondrial membrane 70 (TOM70), a central component of the TOM complex that mediates the import of nuclear-encoded mitochondrial precursor proteins. TOM70 acts as a receptor for cytosolic chaperone-bound preproteins, facilitating their translocation across the outer mitochondrial membrane. Beyond its canonical import function, TOMM70 plays a critical role in innate immunity by interacting with MAVS to modulate antiviral signaling, and has been implicated in cellular stress responses, apoptosis, and cancer metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial import disorders | Defective protein translocation due to TOMM70 dysfunction leads to mitochondrial stress and impaired energy metabolism. | PMID: 31582811 |
| Viral infections (e.g., Influenza A, SARS-CoV-2) | TOMM70 interacts with MAVS to suppress RIG-I-like receptor signaling, promoting viral immune evasion. | PMID: 20581826 |
| Cancer (multiple types) | Altered TOMM70 expression affects mitochondrial metabolism and apoptosis; associated with poor prognosis in breast and lung cancers. | PMID: 31582811, COSMIC |
| Neurodegenerative diseases | Mitochondrial dysfunction linked to TOMM70 impairment may contribute to Parkinson's and Alzheimer's pathology. | PMID: 31582811 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 28.5 | High |
| Liver | 22.1 | High |
| Skeletal Muscle | 20.3 | High |
| Kidney | 18.7 | Medium |
| Brain | 15.2 | Medium |
| Lung | 14.8 | Medium |
| Pancreas | 12.3 | Medium |
| Spleen | 10.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 25.4 | High expression in embryonic kidney cells |
| HeLa | 22.8 | High expression in cervical cancer cells |
| HepG2 | 20.1 | High expression in liver cancer cells |
| A549 | 18.5 | Medium expression in lung cancer cells |
| K562 | 12.3 | Low expression in leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Alters TPR domain; potential impact on protein import (ClinVar) |
| c.1246G>A (p.Gly416Ser) | Missense | <0.01% | Located in C-terminal domain; functional significance unknown (ClinVar) |
| c.1489_1491del (p.Glu497del) | In-frame deletion | <0.01% | May affect MAVS interaction (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the TPR domain (e.g., p.Arg339Trp) may impair chaperone binding and reduce mitochondrial import efficiency.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in TOMM70.
Dominant Negative (DN)
Not established; TOMM70 functions as part of a multimeric complex, but dominant-negative effects have not been documented.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • mitochondrion (GO:0005739) |
| • mitochondrial outer membrane (GO:0005741) | • protein targeting to mitochondrion (GO:0006626) |
| • protein transport (GO:0015031) | • integral component of mitochondrial outer membrane (GO:0031307) |
| • identical protein binding (GO:0042802) | • CARD domain binding (GO:0050700) |
Pathways
• Mitochondrial protein import (Reactome: R-HSA-1268020)
• RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways (Reactome: R-HSA-168928)
• Innate immune system (Reactome: R-HSA-168249)
Protein Summary
TOMM70 (UniProt O94826) is a 70 kDa transmembrane protein anchored in the outer mitochondrial membrane. It contains an N-terminal transmembrane domain and multiple tetratricopeptide repeat (TPR) domains that mediate interactions with cytosolic Hsp70/Hsp90 chaperones and mitochondrial precursor proteins. TOM70 functions as a docking site for preprotein complexes, facilitating their transfer to the TOM40 channel. Additionally, TOM70 interacts with MAVS to negatively regulate antiviral signaling, linking mitochondrial import to innate immunity. The protein is ubiquitously expressed with highest levels in heart, liver, and skeletal muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TOMM70 Knockout HEK293 Cell Line | EDJ-KQ3952 | Human | 9868 | Details Get a Quote |
| TOMM70 Knockout A-549 Cell Line | EDJ-KQ26213 | Human | 9868 | Details Get a Quote |
| TOMM70 Knockout HCT 116 Cell Line | EDJ-KQ26214 | Human | 9868 | Details Get a Quote |
| TOMM70 Knockout HeLa Cell Line | EDC10314 | Human | 9868 | Details Get a Quote |
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