MTERF1
Mitochondrial Transcription Termination Factor 1
Gene Information Card
| Symbol | MTERF1 |
|---|---|
| Full Name | Mitochondrial Transcription Termination Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q21.12 |
| NCBI Gene ID | 7979 ncbi.nlm.nih.gov/gene/7979 |
| Ensembl ID | ENSG00000127989 |
| UniProt ID | Q99551 |
| OMIM ID | 602023 |
| HGNC ID | 7448 |
| Aliases | MTERF, MTERF1 |
Description
MTERF1 encodes a mitochondrial transcription termination factor that binds to specific DNA sequences within the mitochondrial genome, terminating transcription at the boundary between the 16S rRNA and tRNA-Leu(UUR) genes. This protein is essential for proper mitochondrial gene expression and respiratory chain function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial encephalomyopathy | Impaired mitochondrial transcription termination leading to defective oxidative phosphorylation | ClinVar |
| Leigh syndrome | Disruption of mitochondrial gene expression and energy metabolism | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.8 | Medium |
| Liver | 8.3 | Low |
| Brain | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| HEK293 | 13.4 | Embryonic kidney cell line |
| HepG2 | 9.7 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Loss of function |
| c.2T>C | Missense | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations impairing DNA binding or termination activity reduce mitochondrial transcript levels.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • Mitochondrial transcription termination | • DNA binding |
| • Mitochondrion |
Pathways
• Mitochondrial transcription termination
• Mitochondrial gene expression
Protein Summary
MTERF1 is a 39 kDa mitochondrial matrix protein that binds to a specific 28-bp sequence in the mitochondrial genome, terminating transcription. It contains three leucine zipper motifs and is critical for regulating mitochondrial RNA levels.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MTERF1 Knockout HEK293 Cell Line | EDJ-KQ6150 | Human | 7978 | Details Get a Quote |
| MTERF1 Knockout A-549 Cell Line | EDJ-KQ29951 | Human | 7978 | Details Get a Quote |
| MTERF1 Knockout HCT 116 Cell Line | EDJ-KQ29952 | Human | 7978 | Details Get a Quote |
| MTERF1 Knockout HeLa Cell Line | EDJ-KQ29953 | Human | 7978 | Details Get a Quote |
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