• Gene id: 54700

Gene Summary

• Gene Symbol: RRN3   Gene   UCSC   Ensembl
• Aliases: A-270G1.2, TIFIA
• Gene name: RRN3 homolog, RNA polymerase I transcription factor
• Alternate names: RNA polymerase I-specific transcription initiation factor RRN3, RRN3 RNA polymerase I transcription factor homolog, TIF-IA, transcription initiation factor IA, transcription initiation factor TIF-IA,
• Gene location: 16p13.11 (15094334: 15060021)     Exons: 18     NC_000016.10
• OMIM: 605121

Protein Summary

• Protein general information: Q9NYV6  
  • Name: RNA polymerase I specific transcription initiation factor RRN3 (Transcription initiation factor IA) (TIF IA)
  • Length: 651  
  • Mass: 74107
• Sequence:

  MAAPLLHTRLPGDAAASSSAVKKLGASRTGISNMRALENDFFNSPPRKTVRFGGTVTEVLLKYKKGETNDFELLK
  NQLLDPDIKDDQIINWLLEFRSSIMYLTKDFEQLISIILRLPWLNRSQTVVEEYLAFLGNLVSAQTVFLRPCLSM
  IASHFVPPRVIIKEGDVDVSDSDDEDDNLPANFDTCHRALQIIARYVPSTPWFLMPILVEKFPFVRKSERTLECY
  VHNLLRISVYFPTLRHEILELIIEKLLKLDVNASRQGIEDAEETATQTCGGTDSTEGLFNMDEDEETEHETKAGP
  ERLDQMVHPVAERLDILMSLVLSYMKDVCYVDGKVDNGKTKDLYRDLINIFDKLLLPTHASCHVQFFMFYLCSFK
  LGFAEAFLEHLWKKLQDPSNPAIIRQAAGNYIGSFLARAKFIPLITVKSCLDLLVNWLHIYLNNQDSGTKAFCDV
  ALHGPFYSACQAVFYTFVFRHKQLLSGNLKEGLQYLQSLNFERIVMSQLNPLKICLPSVVNFFAAITNKYQLVFC
  YTIIERNNRQMLPVIRSTAGGDSVQICTNPLDTFFPFDPCVLKRSKKFIDPIYQVWEDMSAEELQEFKKPMKKDI
  VEDEDDDFLKGEVPQNDTVIGITPSSFDTHFRSPSSSVGSPPVLYMQPSPL

• Structural information:
  • Interpro: IPR007991  
  • STRING: ENSP00000198767
• Other Databases: GeneCards:  RRN3  Malacards:  RRN3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001164	RNA polymerase I core promoter sequence-specific DNA binding	IDA	molecular function
GO:0005730	nucleolus	IDA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006361	transcription initiation from RNA polymerase I promoter	IBA	biological process
GO:0001181	RNA polymerase I general transcription initiation factor activity	IBA	molecular function
GO:0001042	RNA polymerase I core binding	IBA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006361	transcription initiation from RNA polymerase I promoter	TAS	biological process
GO:0006361	transcription initiation from RNA polymerase I promoter	TAS	biological process
GO:0006352	DNA-templated transcription, initiation	IEA	biological process
GO:0006361	transcription initiation from RNA polymerase I promoter	IEA	biological process
GO:0007000	nucleolus organization	IEA	biological process
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0070063	RNA polymerase binding	IEA	molecular function
GO:1902254	negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator	IEA	biological process
GO:2000142	regulation of DNA-templated transcription, initiation	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0007028	cytoplasm organization	IEA	biological process
GO:0008283	cell population proliferation	IEA	biological process
GO:0048872	homeostasis of number of cells	IEA	biological process
GO:0010976	positive regulation of neuron projection development	IEA	biological process
GO:0005730	nucleolus	IEA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0001188	RNA polymerase I preinitiation complex assembly	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray