TAF1 Gene Summary [Human]

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. Mutations in this gene result in Dystonia 3, torsion, X-linked, a dystonia-parkinsonism disorder. Alternative splicing of this gene results in multiple transcript variants. This gene is part of a complex transcription unit (TAF1/DYT3), wherein some transcript variants share exons with TAF1 as well as additional downstream DYT3 exons. [provided by RefSeq, Oct 2013]

Details

Type
Protein Coding
Official Symbol
TAF1
Official Name
TATA-box binding protein associated factor 1 [Source:HGNC Symbol;Acc:HGNC:11535]
Ensembl ID
ENSG00000147133
Bio databases IDs NCBI: 6872 Ensembl: ENSG00000147133
Aliases TATA-box binding protein associated factor 1
Synonyms B430306D02RIK, BA2R, CCG1, CCGS, DYT3, DYT3/TAF1, KAT4, LOC100287968, LOC100291704, LOC102556339, MRXS33, NSCL2, N-TAF1, OF, P250, RGD1562050, TAF130/250, TAF250, TAF2A, TAF(II)250, TAFII-250, TATA-box binding protein associated factor 1, XDP
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TAF1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Zinc knuckle
  • TATA box-binding protein binding
  • histone acetyltransferase domain
  • protein serine/threonine kinase
  • transcription regulator
  • protein kinase
  • protein binding activity, bridging
  • transcription factor binding
  • chromatin binding
  • general RNA polymerase II transcription factor
  • Bromodomain
  • TATA-binding protein binding
  • HMG-like domain
  • N-terminal kinase domain
  • histone binding
  • histone acetyltransferase
  • ligand-dependent nuclear receptor interactor
  • E1 domain
  • nucleic acid binding
  • protein binding
  • p53 binding
  • sequence-specific DNA binding
  • acidic domain
  • Protein of unknown function (DUF3591)
  • DNA binding
  • kinase
  • kinase domain
  • ubiquitin conjugating enzyme
  • Swi4 homology domain
  • Rap binding domain
  • double-stranded DNA binding
  • E2 domain
  • protein heterodimerization

Pathways

Biological processes and signaling networks where the TAF1 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • lung squamous cell carcinoma
  • renal clear cell adenocarcinoma
  • renal clear cell cancer
  • syndromic X-linked mental retardation type 33
  • hereditary disorder
  • mental retardation
  • head and neck squamous cell carcinoma
  • head and neck squamous cell cancer
  • urothelial bladder carcinoma
  • transitional cell bladder cancer
regulated by
regulates
  • TP53
  • AR
  • Cyclin a
  • reporter gene
  • synthetic promoter
  • Pd1
  • DNA promoter
  • DNA endogenous promoter
  • peptide
  • RNA polymerase II
role in cell
  • response by
  • missegregation in
  • missegregation
  • polyubiquitination in
  • homologous recombination repair in
  • cell cycle progression
  • DNA damage response

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • nuclear fraction
  • nucleoplasm
  • nucleoli
  • pronucleus
  • chromatin

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human TAF1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • positive regulation of protein binding
  • transcription initiation from RNA polymerase I promoter
  • positive regulation of transcription initiation from RNA polymerase II promoter
  • transcription from RNA polymerase II promoter
  • protein autophosphorylation
  • protein phosphorylation
  • positive regulation of transcription from RNA polymerase II promoter
  • transcription initiation from RNA polymerase II promoter
  • negative regulation of transcription from RNA polymerase II promoter
  • midbrain development
  • chromatin remodeling
  • RNA polymerase II transcriptional preinitiation complex assembly
  • cellular response to UV
  • cellular response to ATP
  • negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process
  • mRNA transcription from RNA polymerase II promoter
  • protein polyubiquitination
  • response to DNA damage stimulus
  • ubiquitin-dependent protein catabolic process
  • negative regulation of gene expression
  • positive regulation of androgen receptor activity
  • positive regulation of proteasomal ubiquitin-dependent protein catabolic process
  • protein stabilization
  • peptidyl-serine phosphorylation
  • peptidyl-threonine phosphorylation

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • transcription factor complex
  • transcription factor TFIID complex
  • nucleolus
  • chromatin
  • MLL1 complex
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • ligand-dependent nuclear receptor binding
  • RNA polymerase II core promoter sequence-specific DNA binding
  • sequence-specific DNA binding
  • protein kinase activity
  • protein serine/threonine kinase activity
  • ATP binding
  • histone acetyltransferase activity
  • p53 binding
  • protein binding
  • protein heterodimerization activity
  • general RNA polymerase II transcription factor activity
  • core RNA polymerase I binding transcription factor activity
  • histone acetyl-lysine binding
  • RNA polymerase II basal transcription factor binding
  • TBP-class protein binding
  • kinase activity

Gene-Specific Assays for Results You Can Trust

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