• Gene id: 9014

Gene Summary

• Gene Symbol: TAF1B   Gene   UCSC   Ensembl
• Aliases: MGC:9349, RAF1B, RAFI63, SL1, TAFI63
• Gene name: TATA-box binding protein associated factor, RNA polymerase I subunit B
• Alternate names: TATA box-binding protein-associated factor RNA polymerase I subunit B, RNA polymerase I-specific TBP-associated factor 63 kDa, SL1, 63kD subunit, TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD, TATA box binding protein (TBP)-assoc,
• Gene location: 2p25.1 (9843441: 9934415)     Exons: 17     NC_000002.12
• Gene summary(Entrez): Initiation of transcription by RNA polymerase I requires the formation of a complex composed of the TATA-binding protein (TBP) and three TBP-associated factors (TAFs) specific for RNA polymerase I. This complex, known as SL1, binds to the core promoter of
• OMIM: 604904

Protein Summary

• Protein general information: Q53T94  
  • Name: TATA box binding protein associated factor RNA polymerase I subunit B (RNA polymerase I specific TBP associated factor 63 kDa) (TAFI63) (TATA box binding protein associated factor 1B) (TBP associated factor 1B) (Transcription initiation factor SL1/TIF IB
  • Length: 588  
  • Mass: 68832
• Sequence:

  MDLEEAEEFKERCTQCAAVSWGLTDEGKYYCTSCHNVTERYQEVTNTDLIPNTQIKALNRGLKKKNNTEKGWDWY
  VCEGFQYILYQQAEALKNLGVGPELKNDVLHNFWKRYLQKSKQAYCKNPVYTTGRKPTVLEDNLSHSDWASEPEL
  LSDVSCPPFLESGAESQSDIHTRKPFPVSKASQSETSVCSGSLDGVEYSQRKEKGIVKMTMPQTLAFCYLSLLWQ
  REAITLSDLLRFVEEDHIPYINAFQHFPEQMKLYGRDRGIFGIESWPDYEDIYKKTVEVGTFLDLPRFPDITEDC
  YLHPNILCMKYLMEVNLPDEMHSLTCHVVKMTGMGEVDFLTFDPIAKMAKTVKYDVQAVAIIVVVLKLLFLLDDS
  FEWSLSNLAEKHNEKNKKDKPWFDFRKWYQIMKKAFDEKKQKWEEARAKYLWKSEKPLYYSFVDKPVAYKKREMV
  VNLQKQFSTLVESTATAGKKSPSSFQFNWTEEDTDRTCFHGHSLQGVLKEKGQSLLTKNSLYWLSTQKFCRCYCT
  HVTTYEESNYSLSYQFILNLFSFLLRIKTSLLHEEVSLVEKKLFEKKYSVKRKKSRSKKVRRH

• Structural information:
  • Interpro: IPR033599  IPR021752  
  • STRING: ENSP00000263663
• Other Databases: GeneCards:  TAF1B  Malacards:  TAF1B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005668	RNA polymerase transcription factor SL1 complex	IBA	cellular component
GO:0042790	nucleolar large rRNA transcription by RNA polymerase I	IBA	biological process
GO:0001164	RNA polymerase I core promoter sequence-specific DNA binding	IBA	molecular function
GO:0070860	RNA polymerase I core factor complex	IBA	cellular component
GO:0070860	RNA polymerase I core factor complex	IDA	cellular component
GO:0070860	RNA polymerase I core factor complex	IDA	cellular component
GO:0001188	RNA polymerase I preinitiation complex assembly	IDA	biological process
GO:0001164	RNA polymerase I core promoter sequence-specific DNA binding	IDA	molecular function
GO:0001164	RNA polymerase I core promoter sequence-specific DNA binding	IDA	molecular function
GO:0017025	TBP-class protein binding	TAS	molecular function
GO:0001164	RNA polymerase I core promoter sequence-specific DNA binding	IEA	molecular function
GO:0001188	RNA polymerase I preinitiation complex assembly	IEA	biological process
GO:0006360	transcription by RNA polymerase I	IEA	biological process
GO:0070860	RNA polymerase I core factor complex	IEA	cellular component
GO:0046872	metal ion binding	IEA	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: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:0006362	transcription elongation from RNA polymerase I promoter	TAS	biological process
GO:0006363	termination of RNA polymerase I transcription	TAS	biological process
GO:0045815	positive regulation of gene expression, epigenetic	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:0005730	nucleolus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0006351	transcription, DNA-templated	NAS	biological process
GO:0005634	nucleus	NAS	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq