TAF1

Chr XXLR

TATA-box binding protein associated factor 1

Also known as: BA2R, CCG1, CCGS, DYT3, DYT3/TAF1, KAT4, MRXS33, N-TAF1

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]

OMIMResearchGenerating clinical summary…
LOFmechanismXLRLOEUF 0.042 OMIM phenotypes
Clinical SummaryTAF1
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Dual constrained — LoF & missense intolerant
LoF Constraint?
0.04LOEUF
pLI 1.000
Z-score 7.69
OE 0.00 (0.000.04)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint?
5.49Z-score
OE missense 0.44 (0.400.48)
326 obs / 748.3 exp
Constrained

Extremely missense-constrained (top ~0.01%)

Observed / Expected Ratios?
LoF OE?0.00 (0.000.04)
00.351.4
Missense OE?0.44 (0.400.48)
00.61.4
Synonymous OE?1.09
01.21.6
LoF obs/exp: 0 / 68.9Missense obs/exp: 326 / 748.3Syn Z: -1.07
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
definitiveTAF1-related dysmorphic features, intellectual disability, and neurological manifestationsLOFXLR

This gene — mechanism propensity

DN
0.2399th %ile
GOF
0.3986th %ile
LOF
0.82top 5%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.04

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TAF1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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