TAF1

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Protein-coding gene in the species Homo sapiens

title: "TAF1" type: doc version: 1 created: 2026-02-28 author: "Wikipedia contributors" status: active scope: public description: "Protein-coding gene in the species Homo sapiens" topic_path: "uncategorized" source: "https://en.wikipedia.org/wiki/TAF1" license: "CC BY-SA 4.0" wikipedia_page_id: 0 wikipedia_revision_id: 0

::summary Protein-coding gene in the species Homo sapiens ::

Transcription initiation factor TFIID subunit 1, also known as transcription initiation factor TFIID 250 kDa subunit (TAFII-250) or TBP-associated factor 250 kDa (p250), is a protein that in humans is encoded by the TAF1 gene.

Function

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 properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes the largest subunit of TFIID. This subunit binds to core promoter sequences encompassing the transcription start site. It also binds to activators and other transcriptional regulators, and these interactions affect the rate of transcription initiation. This subunit contains two independent protein kinase domains at the N and C-terminals, but also possesses acetyltransferase activity and can act as a ubiquitin-activating/conjugating enzyme. Two transcripts encoding different isoforms have been identified for this gene. Histones are often acetylated to open DNA for transcription. TAF1 contains two bromodomains, which each can bind one of two acetyllysine residues at position 5 and 12 in the H4 tail, to stabilize the TBP-TATA box complex.

Clinical significance

A mutation in TAF1 was identified that contributes to a phenotype with severe intellectual disability (ID), a characteristic intergluteal crease, and distinctive facial features, including a broad, upturned nose, sagging cheeks, downward sloping palpebral fissures, prominent periorbital ridges, deep-set eyes, relative hypertelorism, thin upper lip, a high-arched palate, prominent ears with thickened helices, and a pointed chin This is a non-synonymous change in TAF1 that results in an isoleucine (hydrophobic) to threonine (polar) change on the 1337th amino acid residue in the protein (NP_001273003.1). Two other mutations were reported in TAF1 in two families with intellectual disability, although further clinical details were not reported.

Interactions

TAF1 has been shown to interact with:

References

References

  1. "Entrez Gene: TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa".
  2. (April 1987). "Isolation of a human X chromosome-linked gene essential for progression from G1 to S phase of the cell cycle". Exp. Cell Res..
  3. (Jan 2015). "SeqHBase: a big data toolset for family based sequencing data analysis". Journal of Medical Genetics.
  4. (2015). "A variant in TAF1 is associated with a new syndrome with severe intellectual disability and characteristic dysmorphic features". The American Journal of Human Genetics.
  5. (Feb 2015). "X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes". Molecular Psychiatry.
  6. (September 2008). "Transcription factor TAFII250 phosphorylates the acidic domain of Mdm2 through recruitment of protein kinase CK2". Mol. Cell. Biochem..
  7. (January 1999). "Cyclin D1 associates with the TBP-associated factor TAF(II)250 to regulate Sp1-mediated transcription". Oncogene.
  8. (November 2000). "Cyclin D1 suppresses retinoblastoma protein-mediated inhibition of TAFII250 kinase activity". Oncogene.
  9. (March 1996). "TAFII250 is a bipartite protein kinase that phosphorylates the base transcription factor RAP74". Cell.
  10. (November 1995). "Human TAFII250 interacts with RAP74: implications for RNA polymerase II initiation". Genes Dev..
  11. (March 1998). "A dynamic model for PC4 coactivator function in RNA polymerase II transcription". Proc. Natl. Acad. Sci. U.S.A..
  12. (April 1995). "The retinoblastoma-susceptibility gene product binds directly to the human TATA-binding protein-associated factor TAFII250". Proc. Natl. Acad. Sci. U.S.A..
  13. (July 1997). "Rb interacts with TAF(II)250/TFIID through multiple domains". Oncogene.
  14. (October 2001). "TAFII55 binding to TAFII250 inhibits its acetyltransferase activity". Proc. Natl. Acad. Sci. U.S.A..
  15. (January 1999). "Rb inhibits the intrinsic kinase activity of TATA-binding protein-associated factor TAFII250". Mol. Cell. Biol..
  16. (June 1997). "CCAAT binding NF-Y-TBP interactions: NF-YB and NF-YC require short domains adjacent to their histone fold motifs for association with TBP basic residues". Nucleic Acids Res..
  17. (March 1993). "Cloning and expression of human TAFII250: a TBP-associated factor implicated in cell-cycle regulation". Nature.
  18. (May 1998). "Functional analysis of the human TAFII250 N-terminal kinase domain". Mol. Cell.
  19. (Dec 2002). "The cell cycle regulatory factor TAF1 stimulates ribosomal DNA transcription by binding to the activator UBF". Curr. Biol..

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