• Gene id: 7343

Gene Summary

• Gene Symbol: UBTF   Gene   UCSC   Ensembl
• Aliases: CONDBA, NOR-90, UBF, UBF-1, UBF1, UBF2
• Gene name: upstream binding transcription factor
• Alternate names: nucleolar transcription factor 1, 90-kDa nucleolus organizer region autoantigen, autoantigen NOR-90, upstream binding transcription factor, RNA polymerase I,
• Gene location: 17q21.31 (44221303: 44205035)     Exons: 26     NC_000017.11
• Gene summary(Entrez): This gene encodes a member of the HMG-box DNA-binding protein family. The encoded protein plays a critical role in ribosomal RNA transcription as a key component of the pre-initiation complex, mediating the recruitment of RNA polymerase I to rDNA promoter
• OMIM: 600673

Protein Summary

• Protein general information: P17480  
  • Name: Nucleolar transcription factor 1 (Autoantigen NOR 90) (Upstream binding factor 1) (UBF 1)
  • Length: 764  
  • Mass: 89406
• Sequence:

  MNGEADCPTDLEMAAPKGQDRWSQEDMLTLLECMKNNLPSNDSSKFKTTESHMDWEKVAFKDFSGDMCKLKWVEI
  SNEVRKFRTLTELILDAQEHVKNPYKGKKLKKHPDFPKKPLTPYFRFFMEKRAKYAKLHPEMSNLDLTKILSKKY
  KELPEKKKMKYIQDFQREKQEFERNLARFREDHPDLIQNAKKSDIPEKPKTPQQLWYTHEKKVYLKVRPDATTKE
  VKDSLGKQWSQLSDKKRLKWIHKALEQRKEYEEIMRDYIQKHPELNISEEGITKSTLTKAERQLKDKFDGRPTKP
  PPNSYSLYCAELMANMKDVPSTERMVLCSQQWKLLSQKEKDAYHKKCDQKKKDYEVELLRFLESLPEEEQQRVLG
  EEKMLNINKKQATSPASKKPAQEGGKGGSEKPKRPVSAMFIFSEEKRRQLQEERPELSESELTRLLARMWNDLSE
  KKKAKYKAREAALKAQSERKPGGEREERGKLPESPKRAEEIWQQSVIGDYLARFKNDRVKALKAMEMTWNNMEKK
  EKLMWIKKAAEDQKRYERELSEMRAPPAATNSSKKMKFQGEPKKPPMNGYQKFSQELLSNGELNHLPLKERMVEI
  GSRWQRISQSQKEHYKKLAEEQQKQYKVHLDLWVKSLSPQDRAAYKEYISNKRKSMTKLRGPNPKSSRTTLQSKS
  ESEEDDEEDEDDEDEDEEEEDDENGDSSEDGGDSSESSSEDESEDGDENEEDDEDEDDDEDDDEDEDNESEGSSS
  SSSSSGDSSDSDSN

• Structural information:
  • Interpro: IPR029215  IPR009071  IPR036910  
  • Prosite: PS50118
  • PDB: 1K99 1L8Y 1L8Z 2HDZ
  • PDBsum: 1K99 1L8Y 1L8Z 2HDZ
  • DIP: 640
  • STRING: ENSP00000302640
• Other Databases: GeneCards:  UBTF  Malacards:  UBTF

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001181	RNA polymerase I general transcription initiation factor activity	IDA	molecular function
GO:0006361	transcription initiation from RNA polymerase I promoter	IDA	biological process
GO:0005730	nucleolus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0003682	chromatin binding	IDA	molecular function
GO:0006360	transcription by RNA polymerase I	IMP	biological process
GO:0005730	nucleolus	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0045943	positive regulation of transcription by RNA polymerase I	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
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:0006361	transcription initiation from RNA polymerase I promoter	TAS	biological process
GO:0006362	transcription elongation from RNA polymerase I promoter	TAS	biological process
GO:0006363	termination of RNA polymerase I transcription	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:0001650	fibrillar center	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0001650	fibrillar center	IDA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0001188	RNA polymerase I preinitiation complex assembly	IEA	biological process
GO:0097110	scaffold protein binding	IPI	molecular function
GO:0001164	RNA polymerase I core promoter sequence-specific DNA binding	IDA	molecular function
GO:0001165	RNA polymerase I cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:1902659	regulation of glucose mediated signaling pathway	IDA	NOT|biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0003723	RNA binding	HDA	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

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