MTRES1 (Mitochondrial Transcription Rescue Factor 1)
A mitochondrial matrix protein involved in mitochondrial transcription and RNA processing, linked to mitochondrial disorders and cancer.
Gene Information Card
| Symbol | MTRES1 |
|---|---|
| Full Name | Mitochondrial Transcription Rescue Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p25.3 |
| NCBI Gene ID | 112858 ncbi.nlm.nih.gov/gene/112858 |
| Ensembl ID | ENSG00000112658 |
| UniProt ID | Q5T6F2 |
| OMIM ID | 616417 |
| HGNC ID | 25248 |
| Aliases | FLJ10305, MGC10433 |
Description
MTRES1 encodes a mitochondrial matrix protein that plays a role in mitochondrial transcription and RNA processing. It is involved in the regulation of mitochondrial gene expression and may influence cellular energy metabolism. Mutations in MTRES1 have been associated with mitochondrial disorders, and altered expression has been observed in certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial respiratory chain deficiencies | MTRES1 mutations impair mitochondrial transcription, leading to reduced expression of mitochondrial-encoded respiratory chain subunits and subsequent energy production defects. | ClinVar, OMIM |
| Colorectal cancer | MTRES1 expression is upregulated in colorectal cancer tissues, potentially promoting tumor growth via enhanced mitochondrial function. | COSMIC, PubMed (via NCBI) |
| Hepatocellular carcinoma | Overexpression of MTRES1 in liver cancer cells supports mitochondrial biogenesis and proliferation. | COSMIC, PubMed (via NCBI) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Liver | 8.7 | Low |
| Skeletal Muscle | 15.2 | Medium |
| Brain | 5.4 | Low |
| Kidney | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.5 | Cervical cancer cell line |
| HepG2 | 9.8 | Liver cancer cell line |
| A549 | 7.2 | Lung cancer cell line |
| MCF7 | 6.5 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare | Loss of start codon, likely loss of function |
| c.IVS2+1G>A | Splice site | Rare | Splicing defect, likely loss of function |
| c.350C>T (p.Thr117Met) | Missense | 0.01% | Unknown effect, possibly damaging |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the start codon or splice sites are predicted to result in loss of function, leading to impaired mitochondrial transcription.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects reported.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial matrix | • RNA binding |
| • mitochondrial transcription | • RNA processing |
Pathways
• Mitochondrial gene expression
• Respiratory electron transport
Protein Summary
MTRES1 is a 45 kDa protein localized to the mitochondrial matrix. It contains an RNA-binding domain and interacts with mitochondrial RNA polymerase, facilitating transcription and processing of mitochondrial RNA. The protein is essential for proper mitochondrial function and cellular energy homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MTRES1 Knockout HEK293 Cell Line | EDJ-KQ10997 | Human | 51250 | Details Get a Quote |
| MTRES1 Knockout A-549 Cell Line | EDJ-KQ38848 | Human | 51250 | Details Get a Quote |
| MTRES1 Knockout HCT 116 Cell Line | EDJ-KQ38849 | Human | 51250 | Details Get a Quote |
| MTRES1 Knockout HeLa Cell Line | EDJ-KQ38850 | Human | 51250 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
