• Gene id: 51001

Gene Summary

• Gene Symbol: MTERF3   Gene   UCSC   Ensembl
• Aliases: CGI-12, MTERFD1
• Gene name: mitochondrial transcription termination factor 3
• Alternate names: transcription termination factor 3, mitochondrial, MTERF domain containing 1, mTERF domain-containing protein 1, mitochondrial,
• Gene location: 8q22.1 (96261612: 96239397)     Exons: 10     NC_000008.11
• OMIM: 616930

Protein Summary

• Protein general information: Q96E29  
  • Name: Transcription termination factor 3, mitochondrial (Mitochondrial transcription termination factor 3) (mTERF3) (mTERF domain containing protein 1, mitochondrial)
  • Length: 417  
  • Mass: 47971
  • Tissue specificity: Highly expressed in heart, liver, kidney and testis. Detected at lower levels in brain, spleen and lung. {ECO
• Sequence:

  MALSAQQIPRWFNSVKLRSLINAAQLTKRFTRPARTLLHGFSAQPQISSDNCFLQWGFKTYRTSSLWNSSQSTSS
  SSQENNSAQSSLLPSMNEQSQKTQNISSFDSELFLEELDELPPLSPMQPISEEEAIQIIADPPLPPASFTLRDYV
  DHSETLQKLVLLGVDLSKIEKHPEAANLLLRLDFEKDIKQMLLFLKDVGIEDNQLGAFLTKNHAIFSEDLENLKT
  RVAYLHSKNFSKADVAQMVRKAPFLLNFSVERLDNRLGFFQKELELSVKKTRDLVVRLPRLLTGSLEPVKENMKV
  YRLELGFKHNEIQHMITRIPKMLTANKMKLTETFDFVHNVMSIPHHIIVKFPQVFNTRLFKVKERHLFLTYLGRA
  QYDPAKPNYISLDKLVSIPDEIFCEEIAKASVQDFEKFLKTL

• Structural information:
  • Interpro: IPR003690  IPR038538  
  • PDB: 3M66
  • PDBsum: 3M66
  • STRING: ENSP00000287025
• Other Databases: GeneCards:  MTERF3  Malacards:  MTERF3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006390	mitochondrial transcription	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0061668	mitochondrial ribosome assembly	IBA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process
GO:0003690	double-stranded DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0016236	macroautophagy	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq