TAF1 Chromosome X
TATA-box binding protein associated factor 1
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What This Gene Does
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]
Gene Info
Gene Group
"Lysine acetyltransferases|Bromodomain containing|General transcription factor IID complex subunits"
Locus Type
gene with protein product
Location
Xq13.1
Ensembl
ENSG00000147133
Associated Conditions (14)
Heart
malformation of
Inborn genetic diseases
Intellectual disability
X-linked
syndromic 33
X-linked dystonia-parkinsonism
TAF1-related disorder
TAF1-related syndromic intellectual disability
Thyroid cancer
nonmedullary
1
See cases
Marfanoid habitus and intellectual disability
Key Variants
RS2148479895
association
Heart, malformation of, Heart
Health Risk
RS1283051418
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1358610598
Conflicting classifications of pathogenicity
Intellectual disability, X-linked, syndromic 33
Health Risk
RS1388649142
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS148448660
Conflicting classifications of pathogenicity
Health Risk
RS201002218
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2034364118
Conflicting classifications of pathogenicity
Intellectual disability, X-linked, syndromic 33
Health Risk
RS2034990430
Conflicting classifications of pathogenicity
Intellectual disability, X-linked, syndromic 33
Health Risk
RS2036476944
Conflicting classifications of pathogenicity
Intellectual disability, X-linked, syndromic 33
Health Risk
RS2038653435
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2148611936
Conflicting classifications of pathogenicity
Health Risk
RS368024152
Conflicting classifications of pathogenicity
X-linked dystonia-parkinsonism, TAF1-related disorder, X-linked dystonia-parkinsonism
Health Risk
All Variants (60)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2148479895 | Health Risk | association | Heart, malformation of, Heart |
| RS1283051418 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1358610598 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked, syndromic 33 |
| RS1388649142 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS148448660 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201002218 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2034364118 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked, syndromic 33 |
| RS2034990430 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked, syndromic 33 |
| RS2036476944 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked, syndromic 33 |
| RS2038653435 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2148611936 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS368024152 | Health Risk | Conflicting classifications of pathogenicity | X-linked dystonia-parkinsonism, TAF1-related disorder, X-linked dystonia-parkinsonism |
| RS373273976 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS755905249 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS758066597 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS760088260 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS763871407 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS767354861 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked, syndromic 33 |
| RS770501081 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, TAF1-related disorder, Inborn genetic diseases |
| RS779320845 | Health Risk | Conflicting classifications of pathogenicity | TAF1-related disorder, TAF1-related disorder |
| RS779870273 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS864321629 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked, syndromic 33 |
| RS864321630 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked, syndromic 33 |
| RS1057518019 | Health Risk | Likely pathogenic | Intellectual disability, X-linked, syndromic 33 |
| RS1064793874 | Health Risk | Likely pathogenic | Intellectual disability, X-linked, syndromic 33 |
| RS1131691982 | Health Risk | Likely pathogenic | Intellectual disability, X-linked, syndromic 33 |
| RS1555980523 | Health Risk | Likely pathogenic | Intellectual disability, X-linked, syndromic 33 |
| RS1555980614 | Health Risk | Likely pathogenic | — |
| RS1602481623 | Health Risk | Likely pathogenic | Intellectual disability, X-linked, syndromic 33 |
| RS1602490113 | Health Risk | Likely pathogenic | Intellectual disability, X-linked, syndromic 33 |
| RS1602506017 | Health Risk | Likely pathogenic | Intellectual disability, X-linked, syndromic 33 |
| RS1602538353 | Health Risk | Likely pathogenic | Intellectual disability, X-linked, syndromic 33 |
| RS2033574124 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS2034442612 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS2034628748 | Health Risk | Likely pathogenic | Heart, malformation of, Heart |
| RS2034677583 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS2148347582 | Health Risk | Likely pathogenic | — |
| RS2148488085 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2148488146 | Health Risk | Likely pathogenic | Intellectual disability, X-linked, syndromic 33 |
| RS2148612232 | Health Risk | Likely pathogenic | Intellectual disability, X-linked, syndromic 33 |
| RS2520253559 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2520282379 | Health Risk | Likely pathogenic | Intellectual disability, X-linked, syndromic 33 |
| RS2520597428 | Health Risk | Likely pathogenic | Intellectual disability, X-linked, syndromic 33 |
| RS2520676862 | Health Risk | Likely pathogenic | Intellectual disability, X-linked, syndromic 33 |
| RS864321628 | Health Risk | Likely pathogenic | Intellectual disability, X-linked, syndromic 33 |
| RS1602489684 | Health Risk | Likely pathogenic; association | Intellectual disability, X-linked, syndromic 33 |
| RS1602572645 | Health Risk | Likely pathogenic; association | Intellectual disability, X-linked, syndromic 33 |
| RS2148106783 | Health Risk | Likely pathogenic; association | Intellectual disability, X-linked, syndromic 33 |
| RS1569301036 | Health Risk | Pathogenic | Intellectual disability, X-linked, syndromic 33 |
| RS1602520317 | Health Risk | Pathogenic | Intellectual disability, X-linked, syndromic 33 |