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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TAF1
TATA-box binding protein associated factor 1
Chromosome X Β· Xq13.1
NCBI Gene: 6872Ensembl: ENSG00000147133.18HGNC: HGNC:11535UniProt: A0A804HIC2
245PubMed Papers
22Diseases
0Drugs
39Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneKinaseTranscription Factor
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein stabilizationpositive regulation of androgen receptor signaling pathwaynucleoplasmnucleolusintellectual disability, X-linked, syndromic 33X-linked dystonia-parkinsonismHIV infectioncongenital heart disease
✦AI Summary

TAF1 (TATA-box binding protein associated factor 1) is the largest component and core scaffold of the TFIID basal transcription factor complex, which is essential for RNA polymerase II-dependent transcription initiation 1. As part of TFIID, TAF1 nucleates complex assembly and forms a promoter DNA-binding subcomplex with TAF7 and TAF2 12. TAF1 possesses dual kinase and histone acetyltransferase activities, phosphorylating transcription factors including TP53 at Thr-55 and GTF2A1/GTF2F1, while acetylating histones H3 and H4 23. The protein is essential for G1 cell cycle progression 4. Mechanistically, circDYM can bind TAF1 to suppress downstream target gene expression and neuroinflammation 5. Pathogenic TAF1 variants cause X-linked intellectual developmental disorder with syndromic features (TAF1/MRXS33 syndrome), characterized by early-onset hypotonia, facial dysmorphia, developmental delay, autism spectrum disorder, seizures, hearing loss, and cardiac malformations 67. TAF1 dysfunction is also associated with X-linked dystonia-parkinsonism (DYT3) 89. The X-chromosome X (Xq13.1) and extensive phenotypic pleiotropy complicate pathogenicity determination for inherited missense variants 106.

Sources cited
1
TAF1 is the largest component and core scaffold of TFIID complex involved in RNA polymerase II transcription initiation; forms promoter DNA-binding subcomplex with TAF7 and TAF2
PMID: 33795473
2
TAF1 nucleates TFIID complex assembly, possesses kinase domains that phosphorylate TP53, GTF2A1, and GTF2F1, and has DNA-binding activity
PMID: 25412659
3
TAF1 exhibits histone acetyltransferase activity towards histones H3 and H4
PMID: 15870300
4
TAF1 is essential for G1 phase cell cycle progression
PMID: 11278496
5
circDYM can bind TAF1 to suppress downstream target gene expression and neuroinflammation
PMID: 35029057
6
Pathogenic TAF1 variants cause TAF1/MRXS33 intellectual disability syndrome with hypotonia, facial dysmorphia, developmental delay, autism, seizures, hearing loss, and cardiac malformations
PMID: 31646703
7
TAF1 is a novel candidate gene for X-linked intellectual disability identified through exome sequencing
PMID: 25644381
8
TAF1 mutations cause DYT3 X-linked dystonia-parkinsonism
PMID: 24262166
9
TAF1 is likely linked to DYT3 dystonia with parkinsonism
PMID: 24092288
10
TAF1 is encoded on X chromosome (Xq13.1) and dysregulated in X-linked dystonia-parkinsonism; congenital mutations cause neurodevelopmental phenotypes and cardiac anomalies
PMID: 39323550
Disease Associationsβ“˜22
intellectual disability, X-linked, syndromic 33Open Targets
0.79Strong
X-linked dystonia-parkinsonismOpen Targets
0.66Moderate
HIV infectionOpen Targets
0.58Moderate
congenital heart diseaseOpen Targets
0.53Moderate
Abnormal heart morphologyOpen Targets
0.53Moderate
neurodegenerative diseaseOpen Targets
0.51Moderate
Intellectual disabilityOpen Targets
0.46Moderate
X-linked intellectual disability - psychosis - macroorchidismOpen Targets
0.46Moderate
Global developmental delayOpen Targets
0.37Weak
genetic disorderOpen Targets
0.34Weak
Parkinson diseaseOpen Targets
0.30Weak
Alzheimer diseaseOpen Targets
0.29Weak
multiple sclerosisOpen Targets
0.29Weak
lysosomal storage diseaseOpen Targets
0.29Weak
marfanoid habitus and intellectual disabilityOpen Targets
0.27Weak
autism spectrum disorderOpen Targets
0.12Weak
colorectal carcinomaOpen Targets
0.08Suggestive
leukemiaOpen Targets
0.08Suggestive
Huntington diseaseOpen Targets
0.08Suggestive
acute lymphoblastic leukemiaOpen Targets
0.07Suggestive
Dystonia 3, torsion, X-linkedUniProt
Intellectual developmental disorder, X-linked, syndromic 33UniProt
Pathogenic Variants39
NM_004606.5(TAF1):c.1207T>G (p.Phe403Val)Pathogenic
Inborn genetic diseases|Intellectual disability, X-linked, syndromic 33
β˜…β˜…β˜†β˜†2025β†’ Residue 403
NM_004606.5(TAF1):c.2608C>T (p.Arg870Cys)Pathogenic
Intellectual disability, X-linked, syndromic 33|TAF1-related syndromic intellectual disability|Heart, malformation of|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 870
NM_004606.5(TAF1):c.3184C>T (p.Arg1062Cys)Likely pathogenic
Intellectual disability|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 1062
NM_004606.5(TAF1):c.3701G>A (p.Arg1234Gln)Likely pathogenic
not provided|Intellectual disability, X-linked, syndromic 33
β˜…β˜…β˜†β˜†2024β†’ Residue 1234
NM_004606.5(TAF1):c.4295G>A (p.Arg1432His)Pathogenic
Heart, malformation of|Intellectual disability, X-linked, syndromic 33|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 1432
NM_004606.5(TAF1):c.4489A>C (p.Asn1497His)Pathogenic
Marfanoid habitus and intellectual disability|Intellectual disability, X-linked, syndromic 33
β˜…β˜…β˜†β˜†2022β†’ Residue 1497
NM_004606.5(TAF1):c.3950T>C (p.Ile1317Thr)Pathogenic
Intellectual disability, X-linked, syndromic 33
β˜…β˜…β˜†β˜†2022β†’ Residue 1317
NM_004606.5(TAF1):c.2975C>T (p.Thr992Ile)Pathogenic
Intellectual disability, X-linked, syndromic 33|Heart, malformation of|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 992
NM_004606.5(TAF1):c.2324G>T (p.Arg775Leu)Likely pathogenic
Intellectual disability, X-linked, syndromic 33
β˜…β˜†β˜†β˜†2024β†’ Residue 775
NM_004606.5(TAF1):c.3095C>T (p.Thr1032Ile)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 1032
NM_004606.5(TAF1):c.4270C>T (p.Arg1424Trp)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 1424
NM_004606.5(TAF1):c.2873C>T (p.Thr958Met)Likely pathogenic
Heart, malformation of|not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 958
NM_004606.5(TAF1):c.3407-1G>ALikely pathogenic
Intellectual disability, X-linked, syndromic 33|Thyroid cancer, nonmedullary, 1
β˜…β˜†β˜†β˜†2023
NM_004606.5(TAF1):c.2414G>A (p.Arg805Gln)Likely pathogenic
Intellectual disability, X-linked, syndromic 33
β˜…β˜†β˜†β˜†2022β†’ Residue 805
NM_004606.5(TAF1):c.2359T>C (p.Cys787Arg)Likely pathogenic
Intellectual disability, X-linked, syndromic 33
β˜…β˜†β˜†β˜†2022β†’ Residue 787
NM_004606.5(TAF1):c.2866G>C (p.Asp956His)Pathogenic
Intellectual disability, X-linked, syndromic 33|Heart, malformation of
β˜…β˜†β˜†β˜†2022β†’ Residue 956
NM_004606.5(TAF1):c.1454T>A (p.Ile485Asn)Pathogenic
Heart, malformation of|Intellectual disability, X-linked, syndromic 33
β˜…β˜†β˜†β˜†2022β†’ Residue 485
NM_004606.5(TAF1):c.2711A>G (p.Tyr904Cys)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 904
NM_004606.5(TAF1):c.1943_1947+1delPathogenic
See cases
β˜…β˜†β˜†β˜†2021
NM_004606.5(TAF1):c.4286A>C (p.Gln1429Pro)Likely pathogenic
Intellectual disability, X-linked, syndromic 33
β˜…β˜†β˜†β˜†2021β†’ Residue 1429
View on ClinVar β†—
Related Genes
BRD2Protein interaction100%POLR2BProtein interaction100%POLR2EProtein interaction100%POLR2GProtein interaction100%TAF1CProtein interaction100%TAF1BProtein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
97%
Lung
69%
Brain
65%
Heart
59%
Liver
55%
Gene Interaction Network
Click a node to explore
TAF1BRD2POLR2BPOLR2EPOLR2GTAF1CTAF1B
PROTEIN STRUCTURE
Preparing viewer…
PDB5I29 Β· 1.21 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.05Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.01 [0.01–0.05]
RankingsWhere TAF1 stands among ~20K protein-coding genes
  • #1,589of 20,598
    Most Researched245 Β· top 10%
  • #1,559of 5,498
    Most Pathogenic Variants39
  • #3of 17,882
    Most Constrained (LOEUF)0.05 Β· top 1%
Genes detectedTAF1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Extracellular vesicle-mediated delivery of circDYM alleviates CUS-induced depressive-like behaviours.
PMID: 35029057
J Extracell Vesicles Β· 2022
1.00
2
The roles of TAF1 in neuroscience and beyond.
PMID: 39323550
R Soc Open Sci Β· 2024
0.90
3
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
PMID: 37377026
Am J Med Genet A Β· 2023
0.80
4
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
PMID: 25644381
Mol Psychiatry Β· 2016
0.70
5
Tremor in Primary Monogenic Dystonia.
PMID: 34264428
Curr Neurol Neurosci Rep Β· 2021
0.60