• Gene id: 6874

Gene Summary

• Gene Symbol: TAF4   Gene   UCSC   Ensembl
• Aliases: TAF2C, TAF2C1, TAF4A, TAFII130, TAFII135
• Gene name: TATA-box binding protein associated factor 4
• Alternate names: transcription initiation factor TFIID subunit 4, RNA polymerase II TBP-associated factor subunit C, TAF(II)130, TAF(II)135, TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa, TAF4A RNA polymerase II, TATA box binding protein (TBP,
• Gene location: 20q13.33 (62065809: 61974797)     Exons: 15     NC_000020.11
• Gene summary(Entrez): Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly,
• OMIM: 601796

Protein Summary

• Protein general information: O00268  
  • Name: Transcription initiation factor TFIID subunit 4 (RNA polymerase II TBP associated factor subunit C) (TBP associated factor 4) (Transcription initiation factor TFIID 130 kDa subunit) (TAF(II)130) (TAFII 130) (TAFII130) (Transcription initiation factor TFII
  • Length: 1085  
  • Mass: 110114
• Sequence:

  MAAGSDLLDEVFFNSEVDEKVVSDLVGSLESQLAASAAHHHHLAPRTPEVRAAAAGALGNHVVSGSPAGAAGAGP
  AAPAEGAPGAAPEPPPAGRARPGGGGPQRPGPPSPRRPLVPAGPAPPAAKLRPPPEGSAGSCAPVPAAAAVAAGP
  EPAPAGPAKPAGPAALAARAGPGPGPGPGPGPGPGPGKPAGPGAAQTLNGSAALLNSHHAAAPAVSLVNNGPAAL
  LPLPKPAAPGTVIQTPPFVGAAAPPAPAAPSPPAAPAPAAPAAAPPPPPPAPATLARPPGHPAGPPTAAPAVPPP
  AAAQNGGSAGAAPAPAPAAGGPAGVSGQPGPGAAAAAPAPGVKAESPKRVVQAAPPAAQTLAASGPASTAASMVI
  GPTMQGALPSPAAVPPPAPGTPTGLPKGAAGAVTQSLSRTPTATTSGIRATLTPTVLAPRLPQPPQNPTNIQNFQ
  LPPGMVLVRSENGQLLMIPQQALAQMQAQAHAQPQTTMAPRPATPTSAPPVQISTVQAPGTPIIARQVTPTTIIK
  QVSQAQTTVQPSATLQRSPGVQPQLVLGGAAQTASLGTATAVQTGTPQRTVPGATTTSSAATETMENVKKCKNFL
  STLIKLASSGKQSTETAANVKELVQNLLDGKIEAEDFTSRLYRELNSSPQPYLVPFLKRSLPALRQLTPDSAAFI
  QQSQQQPPPPTSQATTALTAVVLSSSVQRTAGKTAATVTSALQPPVLSLTQPTQVGVGKQGQPTPLVIQQPPKPG
  ALIRPPQVTLTQTPMVALRQPHNRIMLTTPQQIQLNPLQPVPVVKPAVLPGTKALSAVSAQAAAAQKNKLKEPGG
  GSFRDDDDINDVASMAGVNLSEESARILATNSELVGTLTRSCKDETFLLQAPLQRRILEIGKKHGITELHPDVVS
  YVSHATQQRLQNLVEKISETAQQKNFSYKDDDRYEQASDVRAQLKFFEQLDQIEKQRKDEQEREILMRAAKSRSR
  QEDPEQLRLKQKAKEMQQQELAQMRQRDANLTALAAIGPRKKRKVDCPGPGSGAEGSGPGSVVPGSSGVGTPRQF
  TRQRITRVNLRDLIFCLENERETSHSLLLYKAFLK

• Structural information:
  • Protein Domains: (590..68-)
    (/note="TAFH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00440"-)
  • Interpro: IPR009072  IPR007900  IPR037249  IPR003894  
  • Prosite: PS51119
  • CDD: cd08045
  • PDB: 1H3O 2P6V 6MZC 6MZD 6MZL 6MZM
  • PDBsum: 1H3O 2P6V 6MZC 6MZD 6MZL 6MZM
  • DIP: 35350
  • STRING: ENSP00000252996
• Other Databases: GeneCards:  TAF4  Malacards:  TAF4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005669	transcription factor TFIID complex	IDA	cellular component
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0003677	DNA binding	IBA	molecular function
GO:0008134	transcription factor binding	IBA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005669	transcription factor TFIID complex	IBA	cellular component
GO:0071339	MLL1 complex	IDA	cellular component
GO:0005669	transcription factor TFIID complex	IEA	cellular component
GO:0006352	DNA-templated transcription, initiation	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0016032	viral process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005669	transcription factor TFIID complex	TAS	cellular component
GO:0006366	transcription by RNA polymerase II	TAS	biological process
GO:0005669	transcription factor TFIID complex	IDA	cellular component
GO:1901796	regulation of signal transduction by p53 class mediator	TAS	biological process
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: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:0006366	transcription by RNA polymerase II	TAS	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	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:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0001541	ovarian follicle development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0032991	protein-containing complex	IMP	cellular component
GO:0017162	aryl hydrocarbon receptor binding	IPI	molecular function
GO:0033276	transcription factor TFTC complex	IDA	cellular component
GO:0006352	DNA-templated transcription, initiation	IDA	biological process
GO:0016251	RNA polymerase II general transcription initiation factor activity	IDA	contributes to
GO:0003677	DNA binding	IDA	molecular function
GO:0006367	transcription initiation from RNA polymerase II promoter	IDA	biological process
GO:0033276	transcription factor TFTC complex	IDA	cellular component
GO:0006367	transcription initiation from RNA polymerase II promoter	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05016	Huntington disease
hsa03022	Basal transcription factors

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R