MTERF1 (mitochondrial transcription termination factor 1)

2014-06-01  

Identity

HGNC
LOCATION
7q21.2
LOCUSID
ALIAS
MTERF
FUSION GENES

Other Information

Locus ID:

NCBI: 7978
MIM: 602318
HGNC: 21463
Ensembl: ENSG00000127989

Variants:

dbSNP: 7978
ClinVar: 7978
TCGA: ENSG00000127989
COSMIC: MTERF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000127989ENST00000351870Q99551
ENSG00000127989ENST00000406735B4DPR9
ENSG00000127989ENST00000419292B4DPR9
ENSG00000127989ENST00000425936C9JU79
ENSG00000127989ENST00000442961C9JE25
ENSG00000127989ENST00000456229C9JNM8

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Mitochondrial biogenesisREACTOMER-HSA-1592230
Transcriptional activation of mitochondrial biogenesisREACTOMER-HSA-2151201
Gene ExpressionREACTOMER-HSA-74160
RNA Polymerase I, RNA Polymerase III, and Mitochondrial TranscriptionREACTOMER-HSA-504046
Transcription from mitochondrial promotersREACTOMER-HSA-75944
Mitochondrial transcription terminationREACTOMER-HSA-163316

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
178849152007The mitochondrial transcription termination factor mTERF modulates replication pausing in human mitochondrial DNA.48
205509342010Helix unwinding and base flipping enable human MTERF1 to terminate mitochondrial transcription.46
214477782011Inherited variants in mitochondrial biogenesis genes may influence epithelial ovarian cancer risk.29
158999022005The human mitochondrial transcription termination factor (mTERF) is fully active in vitro in the non-phosphorylated form.20
205438262010Human mitochondrial mTERF wraps around DNA through a left-handed superhelical tandem repeat.18
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
196817682010Training response of mitochondrial transcription factors in human skeletal muscle.11
271125702016Mitochondrial transcription termination factor 1 directs polar replication fork pausing.11
208463942010Effects on mitochondrial transcription of manipulating mTERF protein levels in cultured human HEK293 cells.10

Citation

Dessen P

MTERF1 (mitochondrial transcription termination factor 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-06-01

Online version: http://atlasgeneticsoncology.org/gene/54038/mterf1