• Gene id: 7978

Gene Summary

• Gene Symbol: MTERF1   Gene   UCSC   Ensembl
• Aliases: MTERF
• Gene name: mitochondrial transcription termination factor 1
• Alternate names: transcription termination factor 1, mitochondrial, transcription termination factor, mitochondrial,
• Gene location: 7q21.2 (86302228: 86345942)     Exons: 8     NC_000011.10
• Gene summary(Entrez): 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 do
• OMIM: 602318

Protein Summary

• Protein general information: Q99551  
  • Name: Transcription termination factor 1, mitochondrial (Mitochondrial transcription termination factor 1) (mTERF) (mTERF1)
  • Length: 399  
  • Mass: 45778
• Sequence:

  MQSLSLGQTSISKGLNYLTIMAPGNLWHMRNNFLFGSRCWMTRFSAENIFKSVSFRLFGVKCHNTDSEPLKNEDL
  LKNLLTMGVDIDMARKRQPGVFHRMITNEQDLKMFLLSKGASKEVIASIISRYPRAITRTPENLSKRWDLWRKIV
  TSDLEIVNILERSPESFFRSNNNLNLENNIKFLYSVGLTRKCLCRLLTNAPRTFSNSLDLNKQMVEFLQAAGLSL
  GHNDPADFVRKIIFKNPFILIQSTKRVKANIEFLRSTFNLNSEELLVLICGPGAEILDLSNDYARRSYANIKEKL
  FSLGCTEEEVQKFVLSYPDVIFLAEKKFNDKIDCLMEENISISQIIENPRVLDSSISTLKSRIKELVNAGCNLST
  LNITLLSWSKKRYEAKLKKLSRFA

• Structural information:
  • Interpro: IPR003690  IPR038538  
  • PDB: 3MVA 3MVB 3N6S 3N7Q 5CKY 5CO0 5CRJ 5CRK
  • PDBsum: 3MVA 3MVB 3N6S 3N7Q 5CKY 5CO0 5CRJ 5CRK
  • STRING: ENSP00000248643
• Other Databases: GeneCards:  MTERF1  Malacards:  MTERF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003676	nucleic acid binding	IBA	molecular function
GO:0005759	mitochondrial matrix	IBA	cellular component
GO:0006393	termination of mitochondrial transcription	IBA	biological process
GO:0003690	double-stranded DNA binding	IDA	molecular function
GO:0032392	DNA geometric change	IDA	biological process
GO:0006393	termination of mitochondrial transcription	IDA	biological process
GO:0003690	double-stranded DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006353	DNA-templated transcription, termination	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0003690	double-stranded DNA binding	TAS	molecular function
GO:0005739	mitochondrion	TAS	cellular component
GO:0006393	termination of mitochondrial transcription	TAS	biological process
GO:0006353	DNA-templated transcription, termination	TAS	biological process
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006393	termination of mitochondrial transcription	TAS	biological process
GO:0007005	mitochondrion organization	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042645	mitochondrial nucleoid	IDA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006353	DNA-templated transcription, termination	IDA	biological process
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881