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Gene: TAF1 (TATA-box binding protein associated factor 1) Homo sapiens
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Symbol: TAF1
Name: TATA-box binding protein associated factor 1
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BA2R; CCG1; CCGS; cell cycle gene 1 protein; cell cycle, G1 phase defect; complementation of cell cycle block, G1-to-S; dystonia 3 (with Parkinsonism); DYT3; DYT3/TAF1; KAT4; MRXS33; N-TAF1; NSCL2; OF; P250; TAF(II)250; TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa; TAF2A; TAFII-250; TAFII250; TATA box binding protein associated factor 1; TBP-associated factor 250 kDa; Torsion dystonia-parkinsonism, Filipino type; transcription factor TFIID p250 polypeptide; transcription initiation factor TFIID 250 kDa subunit; transcription initiation factor TFIID subunit 1; XDP
Orthologs:
Mus musculus (house mouse) : Taf1 (TATA-box binding protein associated factor 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Taf1 (TATA-box binding protein associated factor 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Taf1 (TATA-box binding protein associated factor 1)
Pan paniscus (bonobo/pygmy chimpanzee) : TAF1 (TATA-box binding protein associated factor 1)
Canis lupus familiaris (dog) : TAF1 (TATA-box binding protein associated factor 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Taf1 (TATA-box binding protein associated factor 1)
Sus scrofa (pig) : TAF1 (TATA-box binding protein associated factor 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X71,366,220 - 71,530,525 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X70,586,094 - 70,685,855 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X70,502,839 - 70,601,025 (+)NCBINCBI36hg18NCBI36
Build 34X70,369,134 - 70,467,321NCBI
CeleraX70,939,992 - 71,039,729 (+)NCBI
Cytogenetic MapXq13.1NCBI
HuRefX64,401,859 - 64,501,671 (+)NCBIHuRef
CHM1_1X70,479,113 - 70,642,732 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on TAF1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1349671
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-08-06
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.