MTERF3
Mitochondrial Transcription Termination Factor 3
Gene Information Card
| Symbol | MTERF3 |
|---|---|
| Full Name | Mitochondrial Transcription Termination Factor 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q21.2 |
| NCBI Gene ID | 79977 ncbi.nlm.nih.gov/gene/79977 |
| Ensembl ID | ENSG00000120833 |
| UniProt ID | Q9H0I2 |
| OMIM ID | 614776 |
| HGNC ID | 26306 |
| Aliases | CGI-09, MTERFD1, MTERF domain containing 1 |
Description
MTERF3 encodes a mitochondrial transcription termination factor that negatively regulates mitochondrial DNA transcription. The protein localizes to the mitochondria and binds to the mitochondrial DNA promoter region to terminate transcription, thereby controlling mitochondrial gene expression and oxidative phosphorylation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial respiratory chain deficiency | Loss of MTERF3 function leads to impaired mitochondrial transcription and reduced oxidative phosphorylation | PMID: 21385715 |
| Leigh syndrome | Mutations in MTERF3 may contribute to mitochondrial dysfunction observed in Leigh syndrome | ClinVar: VCV000013123 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Liver | 8.3 | Low |
| Brain | 6.7 | Low |
| Skeletal muscle | 10.1 | Medium |
| Kidney | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.8 | Cervical cancer cell line |
| HEK293 | 8.5 | Embryonic kidney cell line |
| HepG2 | 7.2 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Likely loss of function |
| c.245C>T | Nonsense | <0.01% | Premature stop codon, loss of function |
Mutation functional classification
Loss of Function (LOF)
MTERF3 loss-of-function mutations impair mitochondrial transcription termination, leading to reduced mitochondrial gene expression and ATP production.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • Mitochondrial transcription termination | • DNA binding |
| • Mitochondrion | • Regulation of mitochondrial transcription |
Pathways
• Mitochondrial transcription termination
• Oxidative phosphorylation
Protein Summary
MTERF3 is a 39 kDa mitochondrial protein that binds to the mitochondrial DNA promoter region and terminates transcription. It is essential for proper mitochondrial gene expression and cellular energy metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MTERF3 Knockout HEK293 Cell Line | EDJ-KQ10862 | Human | 51001 | Details Get a Quote |
| MTERF3 Knockout A-549 Cell Line | EDJ-KQ38530 | Human | 51001 | Details Get a Quote |
| MTERF3 Knockout HCT 116 Cell Line | EDJ-KQ38531 | Human | 51001 | Details Get a Quote |
| MTERF3 Knockout HeLa Cell Line | EDJ-KQ38532 | Human | 51001 | Details Get a Quote |
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