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TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 2A; TAF2A OKDB#: 1316
 Symbols: TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 2A; TAF Species: human
 Synonyms: TBP-ASSOCIATED FACTOR, RNA POLYMERASE II, 250-KD, TAFII250| CELL CYCLE, G1 PHASE DEFECT, CCG1| CELL CYCLE GENE 1| TEMPERATURE-SENSITIVE MUTATION, MOUSE AND HAMSTER, COMPLEMENTATION OF| CELL CYCLE BLOCK, G1-TO-S, CCGS| BA2R| TRANSCRIPTION FACTOR IID, INCL  Locus: Xq13 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment TFIID is a DNA-binding protein complex required for RNA polymerase II-mediated transcription of many, if not all, protein-encoding genes in eukaryotic cells. The largest subunit of the human transcription factor TFIID, TAFII250, contains serine/threonine kinase domains that can autophosphorylate and transphosphorylate the large subunit of the basal factor TFIIF.

NCBI Summary: 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.
General function DNA binding, Transcription factor
Comment
Cellular localization Nuclear
Comment Freiman et al. (2001) reported that the tissue-selective TAFII105 subunit of TFIID is essential for proper development and function of the mouse ovary. They also demonstrated the expression of TAFII 250 subunit expression in the ovary. Female mice lacking TAFII105 are viable but infertile because of a defect in folliculogenesis correlating with restricted expression of TAFII105 in the granulosa cells of the ovarian follicle. Gene expression profiling has uncovered a defective inhibin-activin signaling pathway in TAFII105-deficient ovaries. These studies suggest that TAFII105 mediates the transcription of a subset of genes required for proper folliculogenesis in the ovary and establishes TAFII105 as a cell type-specific component of the mammalian transcriptional machinery.
Ovarian function Follicle development
Comment
Expression regulated by
Comment
Ovarian localization
Comment
Follicle stages
Comment
Phenotypes
Mutations 3 mutations

Species: mouse
Mutation name: TAFII105 deficient
type: null mutation
fertility: infertile - ovarian defect
Comment: Null female mice are infertile [(Freiman et al. 2001$11557891)]

Species: mouse
Mutation name: TAFII105 deficient
type: null mutation
fertility: infertile - ovarian defect
Comment: Null female mice are infertile (Freiman et al. 2001)

Species: mouse
Mutation name: TAFII105 deficient
type: null mutation
fertility: infertile - ovarian defect
Comment:

Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
OMIM \ Animal Model
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created: Oct. 1, 2001, 11:41 a.m. by: hsueh   email:
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last update: Oct. 8, 2001, 11:11 a.m. by: system    email:



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