MTERF1
protein-codingmitochondrial transcription termination factor 1
Gene summary
This gene encodes a mitochondrial transcription termination factor. This protein participates in attenuating transcription from the mitochondrial genome; this attenuation allows higher levels of expression of 16S ribosomal RNA relative to the tRNA gene downstream. The product of this gene has three leucine zipper motifs bracketed by two basic domains that are all required for DNA binding. There is evidence that, for this protein, the zippers participate in intramolecular interactions that establish the three-dimensional structure required for DNA binding. [provided by RefSeq, Jul 2008]
- MTERF
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~188.7 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to MTERF1 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_006980.5. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 1 | ||||
| missense | 47 | 9 | 1 | 57 | ||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 49 | 9 | 2 | 60 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_008911.1 | 2 | MANE Select | |
| Ensembl | ENSP00000248643.3 | 2 | MANE Select | |
| RefSeq | NP_001288063.1 | 1 | Standard | |
| RefSeq | NP_001288064.1 | 1 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Mitochondrial biogenesis
- Mitochondrial Gene Expression
- Gene expression (Transcription)
- Mitochondrial transcription termination
- Transcription from mitochondrial promoters
Biological Process
- DNA-templated transcription, termination
- regulation of transcription, DNA-templated
- termination of mitochondrial transcription
- mitochondrion organization
- DNA geometric change
Molecular Function
- double-stranded DNA binding
- RNA binding
- protein binding
Cellular Component
- mitochondrion
- mitochondrial matrix
- cytosol
- mitochondrial nucleoid
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000351870
- Coding exons
- 2
- Length
- 188712
- Individuals with no LoFs
- 125437
- Homozygous LoFs
- 2
- Heterozygous LoFs
- 302
- Defined
- 125741
- p
- 0.00121
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.694 | 244 | 215 | 1.13 | 0.0000114 | 2634 |
| Missense (PolyPhen) | 80 | 73.298 | 1.0914 | 921 | ||
| Synonymous | 1.12 | 63 | 75.3 | 0.836 | 0.00000371 | 756 |
| Loss of Function | 0.837 | 11 | 14.4 | 0.762 | 0.00000102 | 166 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00055 | 0.00055 | rare |
| Latino/Admixed American | 0.00029 | 0.00029 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00027 | 0.00027 | rare |
| Finnish | 0.00028 | 0.00028 | rare |
| European (Non-Finnish) | 0.0015 | 0.0015 | notable |
| South Asian | 0.0033 | 0.0033 | notable |
| Other | 0.00065 | 0.00065 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Transcription termination factor. Binds to a 28 bp region within the tRNA(Leu(uur)) gene at a position immediately adjacent to and downstream of the 16S rRNA gene; this region comprises a tridecamer sequence critical for directing accurate termination. Binds DNA along the major grove and promotes DNA bending and partial unwinding. Promotes base flipping. Transcription termination activity appears to be polarized with highest specificity for transcripts initiated on the light strand. {ECO:0000269|PubMed:20550934}.;
Recessive Scores
- pRec
- 0.0735
Intolerance Scores
- RVIS EVS
- 0.4
- RVIS percentile EVS
- 76.31
Essentials
- Essential (gene trap)
- N