• Gene id: 6872

Gene Summary

• Gene Symbol: TAF1   Gene   UCSC   Ensembl
• Aliases: BA2R, CCG1, CCGS, DYT3, DYT3/TAF1, KAT4, MRXS33, N-TAF1, NSCL2, OF, P250, TAF(II)250, TAF2A, TAFII-250, TAFII250, XDP
• Gene name: TATA-box binding protein associated factor 1
• Alternate names: transcription initiation factor TFIID subunit 1, TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa, TBP-associated factor 250 kDa, cell cycle gene 1 protein, cell cycle, G1 phase defect, complementation of cell cycle block, G1-to,
• Gene location: Xq13.1 (71366219: 71530524)     Exons: 4     NC_000023.11
• 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 the basal transcription factor TFIID, which binds to the core promoter to position the polymerase prope
• OMIM: 313650

Protein Summary

• Protein general information: P21675  
  • Name: Transcription initiation factor TFIID subunit 1 (EC 2.3.1.48) (EC 2.7.11.1) (Cell cycle gene 1 protein) (TBP associated factor 250 kDa) (p250) (Transcription initiation factor TFIID 250 kDa subunit) (TAF(II)250) (TAFII 250) (TAFII250)
  • Length: 1872  
  • Mass: 212677
• Sequence:

  MGPGCDLLLRTAATITAAAIMSDTDSDEDSAGGGPFSLAGFLFGNINGAGQLEGESVLDDECKKHLAGLGALGLG
  SLITELTANEELTGTDGALVNDEGWVRSTEDAVDYSDINEVAEDESRRYQQTMGSLQPLCHSDYDEDDYDADCED
  IDCKLMPPPPPPPGPMKKDKDQDSITGEKVDFSSSSDSESEMGPQEATQAESEDGKLTLPLAGIMQHDATKLLPS
  VTELFPEFRPGKVLRFLRLFGPGKNVPSVWRSARRKRKKKHRELIQEEQIQEVECSVESEVSQKSLWNYDYAPPP
  PPEQCLSDDEITMMAPVESKFSQSTGDIDKVTDTKPRVAEWRYGPARLWYDMLGVPEDGSGFDYGFKLRKTEHEP
  VIKSRMIEEFRKLEENNGTDLLADENFLMVTQLHWEDDIIWDGEDVKHKGTKPQRASLAGWLPSSMTRNAMAYNV
  QQGFAATLDDDKPWYSIFPIDNEDLVYGRWEDNIIWDAQAMPRLLEPPVLTLDPNDENLILEIPDEKEEATSNSP
  SKESKKESSLKKSRILLGKTGVIKEEPQQNMSQPEVKDPWNLSNDEYYYPKQQGLRGTFGGNIIQHSIPAVELRQ
  PFFPTHMGPIKLRQFHRPPLKKYSFGALSQPGPHSVQPLLKHIKKKAKMREQERQASGGGEMFFMRTPQDLTGKD
  GDLILAEYSEENGPLMMQVGMATKIKNYYKRKPGKDPGAPDCKYGETVYCHTSPFLGSLHPGQLLQAFENNLFRA
  PIYLHKMPETDFLIIRTRQGYYIRELVDIFVVGQQCPLFEVPGPNSKRANTHIRDFLQVFIYRLFWKSKDRPRRI
  RMEDIKKAFPSHSESSIRKRLKLCADFKRTGMDSNWWVLKSDFRLPTEEEIRAMVSPEQCCAYYSMIAAEQRLKD
  AGYGEKSFFAPEEENEEDFQMKIDDEVRTAPWNTTRAFIAAMKGKCLLEVTGVADPTGCGEGFSYVKIPNKPTQQ
  KDDKEPQPVKKTVTGTDADLRRLSLKNAKQLLRKFGVPEEEIKKLSRWEVIDVVRTMSTEQARSGEGPMSKFARG
  SRFSVAEHQERYKEECQRIFDLQNKVLSSTEVLSTDTDSSSAEDSDFEEMGKNIENMLQNKKTSSQLSREREEQE
  RKELQRMLLAAGSAASGNNHRDDDTASVTSLNSSATGRCLKIYRTFRDEEGKEYVRCETVRKPAVIDAYVRIRTT
  KDEEFIRKFALFDEQHREEMRKERRRIQEQLRRLKRNQEKEKLKGPPEKKPKKMKERPDLKLKCGACGAIGHMRT
  NKFCPLYYQTNAPPSNPVAMTEEQEEELEKTVIHNDNEELIKVEGTKIVLGKQLIESADEVRRKSLVLKFPKQQL
  PPKKKRRVGTTVHCDYLNRPHKSIHRRRTDPMVTLSSILESIINDMRDLPNTYPFHTPVNAKVVKDYYKIITRPM
  DLQTLRENVRKRLYPSREEFREHLELIVKNSATYNGPKHSLTQISQSMLDLCDEKLKEKEDKLARLEKAINPLLD
  DDDQVAFSFILDNIVTQKMMAVPDSWPFHHPVNKKFVPDYYKVIVNPMDLETIRKNISKHKYQSRESFLDDVNLI
  LANSVKYNGPESQYTKTAQEIVNVCYQTLTEYDEHLTQLEKDICTAKEAALEEAELESLDPMTPGPYTPQPPDLY
  DTNTSLSMSRDASVFQDESNMSVLDIPSATPEKQVTQEGEDGDGDLADEEEGTVQQPQASVLYEDLLMSEGEDDE
  EDAGSDEEGDNPFSAIQLSESGSDSDVGSGGIRPKQPRMLQENTRMDMENEESMMSYEGDGGEASHGLEDSNISY
  GSYEEPDPKSNTQDTSFSSIGGYEVSEEEEDEEEEEQRSGPSVLSQVHLSEDEEDSEDFHSIAGDSDLDSDE

• Structural information:
  • Protein Domains: (1..41-)
    1 (/note="Protein-kinase)
    (1397..146-)
    (/note="Bromo-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00035-)
    (1425..187-)
    2 (/note="Protein-kinase)
    (1520..159-)
    (/note="Bromo-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PR-)
  • Interpro: IPR001487  IPR036427  IPR018359  IPR040240  IPR011177   IPR009067  IPR036741  IPR022591  IPR041670  
  • Prosite: PS00633 PS50014
  • PDB: 1EQF 3AAD 3UV4 3UV5 4RGW 4YYM 4YYN 5FUR 5I1Q 5I29 5MG2 6BQD 6FIC 6MZD 6MZL 6MZM
  • PDBsum: 1EQF 3AAD 3UV4 3UV5 4RGW 4YYM 4YYN 5FUR 5I1Q 5I29 5MG2 6BQD 6FIC 6MZD 6MZL 6MZM
  • DIP: 147
  • STRING: ENSP00000406549
• Other Databases: GeneCards:  TAF1  Malacards:  TAF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001181	RNA polymerase I general transcription initiation factor activity	IDA	molecular function
GO:0043433	negative regulation of DNA-binding transcription factor activity	IDA	biological process
GO:0005669	transcription factor TFIID complex	IDA	cellular component
GO:2000825	positive regulation of androgen receptor activity	IDA	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0004672	protein kinase activity	IDA	molecular function
GO:1905502	acetyl-CoA binding	IDA	NOT|molecular function
GO:0061631	ubiquitin conjugating enzyme activity	IDA	molecular function
GO:0006468	protein phosphorylation	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0016301	kinase activity	IDA	molecular function
GO:0140416	DNA-binding transcription factor inhibitor activity	IDA	molecular function
GO:0036369	transcription factor catabolic process	IDA	biological process
GO:0005669	transcription factor TFIID complex	IDA	cellular component
GO:0005669	transcription factor TFIID complex	IDA	cellular component
GO:0005730	nucleolus	IDA	colocalizes with
GO:0000979	RNA polymerase II core promoter sequence-specific DNA binding	IMP	molecular function
GO:0004402	histone acetyltransferase activity	NAS	NOT|molecular function
GO:0005654	nucleoplasm	IDA	colocalizes with
GO:0006367	transcription initiation from RNA polymerase II promoter	IGI	biological process
GO:0061628	H3K27me3 modified histone binding	IPI	contributes to
GO:0061629	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	molecular function
GO:0035257	nuclear hormone receptor binding	IPI	molecular function
GO:0006361	transcription initiation from RNA polymerase I promoter	IGI	biological process
GO:2000059	negative regulation of ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0050821	protein stabilization	IDA	biological process
GO:0071318	cellular response to ATP	IDA	biological process
GO:1903026	negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding	IDA	biological process
GO:0032092	positive regulation of protein binding	IDA	biological process
GO:0005669	transcription factor TFIID complex	TAS	cellular component
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:0005634	nucleus	IDA	cellular component
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0010768	negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage	IMP	biological process
GO:0016251	RNA polymerase II general transcription initiation factor activity	IGI	molecular function
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:1905524	negative regulation of protein autoubiquitination	IDA	biological process
GO:1902806	regulation of cell cycle G1/S phase transition	TAS	biological process
GO:0000209	protein polyubiquitination	IDA	biological process
GO:0018107	peptidyl-threonine phosphorylation	IDA	biological process
GO:0034644	cellular response to UV	IDA	biological process
GO:0005667	transcription regulator complex	IPI	cellular component
GO:0010629	negative regulation of gene expression	IMP	biological process
GO:0030901	midbrain development	IGI	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0043565	sequence-specific DNA binding	IBA	molecular function
GO:0017025	TBP-class protein binding	IBA	molecular function
GO:0005669	transcription factor TFIID complex	IBA	cellular component
GO:0004402	histone acetyltransferase activity	IBA	molecular function
GO:0071339	MLL1 complex	IDA	cellular component
GO:0005669	transcription factor TFIID complex	IDA	cellular component
GO:0005669	transcription factor TFIID complex	IEA	cellular component
GO:0006352	DNA-templated transcription, initiation	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016032	viral process	IEA	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0005669	transcription factor TFIID complex	IDA	cellular component
GO:0004674	protein serine/threonine kinase activity	EXP	molecular function
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: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:0070577	lysine-acetylated histone binding	IDA	molecular function
GO:0002039	p53 binding	IPI	molecular function
GO:0017025	TBP-class protein binding	IPI	molecular function
GO:0016251	RNA polymerase II general transcription initiation factor activity	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0043565	sequence-specific DNA binding	ISS	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0005669	transcription factor TFIID complex	IDA	cellular component
GO:0018105	peptidyl-serine phosphorylation	IDA	biological process
GO:0032436	positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	IDA	biological process
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	ISS	biological process
GO:0006366	transcription by RNA polymerase II	IGI	biological process
GO:0051123	RNA polymerase II preinitiation complex assembly	ISS	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	ISS	biological process
GO:0018107	peptidyl-threonine phosphorylation	IDA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016573	histone acetylation	IEA	biological process
GO:0016573	histone acetylation	IEA	biological process
GO:0016573	histone acetylation	IEA	biological process
GO:0004402	histone acetyltransferase activity	IDA	molecular function
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0046777	protein autophosphorylation	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

KEGG pathways

Pathway id	Pathway name
hsa03022	Basal transcription factors

Diseases

Associated diseases	References
Primary dystonia	KEGG:H00831
Syndromic X-linked mental retardation	KEGG:H00658
Primary dystonia	KEGG:H00831
Syndromic X-linked mental retardation	KEGG:H00658
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