HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TAF1A
TATA-box binding protein associated factor, RNA polymerase I subunit A
Chromosome 1 · 1q41
NCBI Gene: 9015Ensembl: ENSG00000143498.19HGNC: HGNC:11532UniProt: A8K4K5
46PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of DNA-templated transcriptionprotein bindingRNA polymerase transcription factor SL1 complexnucleoplasmneurodegenerative diseasecoronary artery diseasefamilial isolated dilated cardiomyopathyangina pectoris
✦AI Summary

TAF1A encodes a component of the SL1/TIF-IB transcription factor complex essential for RNA polymerase I-dependent ribosomal RNA (rRNA) synthesis 1. As part of the preinitiation complex, TAF1A facilitates the assembly and stabilization of transcriptional machinery at ribosomal DNA promoters, with its association rate likely determining preinitiation complex formation efficiency 2. TAF1A interacts directly with other Pol I factors like DCAF13 and TAF1D to regulate rDNA transcription and ribosome biogenesis 23. Clinically, biallelic TAF1A mutations cause autosomal recessive pediatric cardiomyopathy with multisystem involvement. Affected individuals present with restrictive or dilated cardiomyopathy, congenital leukoencephalopathy, and immunodeficiency, reflecting impaired ribosomal RNA synthesis and nucleolar dysfunction 45. These findings establish TAF1A as a ribosomopathy gene. Beyond cardiac disease, TAF1A is upregulated in multiple cancers—osteoporosis, cervical cancer, and lung adenocarcinoma—where enhanced Pol I transcription supports increased protein synthesis and malignant proliferation 673. Notably, the lncRNA LINC01116 scaffolds TAF1A to rDNA promoters to drive oncogenic Pol I hyperactivity in lung cancer, suggesting TAF1A as a potential therapeutic target in cancer management 3.

Sources cited
1
TAF1A is a component of SL1 complex essential for RNA polymerase I transcription initiation
PMID: 10894955
2
TAF1A directly interacts with DCAF13 to facilitate preinitiation complex assembly and rDNA transcription
PMID: 40902972
3
TAF1A is scaffolded by LINC01116 to rDNA promoters to upregulate Pol I transcription in lung cancer
PMID: 39369230
4
Biallelic TAF1A missense variants cause infantile restrictive cardiomyopathy with congenital leukoencephalopathy and immunodeficiency
PMID: 39209150
5
Compound heterozygous TAF1A mutations cause pediatric dilated cardiomyopathy with nucleolar dysfunction and impaired rRNA synthesis
PMID: 28472305
6
TAF1A is upregulated in osteoporotic samples and identified as a potential therapeutic target for osteoporosis
PMID: 39993547
7
TAF1A serves as a biomarker in cervical cancer and interacts with ZBTB41 in p53-dependent manner
PMID: 33311601
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.51Moderate
coronary artery diseaseOpen Targets
0.43Moderate
familial isolated dilated cardiomyopathyOpen Targets
0.37Weak
angina pectorisOpen Targets
0.31Weak
cardiovascular diseaseOpen Targets
0.30Weak
Abnormal nasolacrimal system morphologyOpen Targets
0.27Weak
femoral neck fractureOpen Targets
0.27Weak
cardiomyopathy, familial restrictive, 6Open Targets
0.14Weak
dilated cardiomyopathyOpen Targets
0.12Weak
alcohol drinkingOpen Targets
0.09Suggestive
KeloidOpen Targets
0.06Suggestive
coronary atherosclerosisOpen Targets
0.05Suggestive
eye infectious disorderOpen Targets
0.05Suggestive
Genu varumOpen Targets
0.05Suggestive
Miyoshi myopathyOpen Targets
0.04Suggestive
infectionOpen Targets
0.04Suggestive
Genu valgumOpen Targets
0.04Suggestive
poisoningOpen Targets
0.03Suggestive
osteosarcomaOpen Targets
0.03Suggestive
hyperlipidemiaOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
POLR1AProtein interaction100%POLR1BProtein interaction100%TAF12Protein interaction100%TBPProtein interaction100%POLR1EProtein interaction100%POLIProtein interaction100%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
68%
Brain
65%
Liver
50%
Lung
50%
Heart
47%
Gene Interaction Network
Click a node to explore
TAF1APOLR1APOLR1BTAF12TBPPOLR1EPOLI
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q15573
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.80LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.60 [0.46–0.80]
RankingsWhere TAF1A stands among ~20K protein-coding genes
  • #9,388of 20,598
    Most Researched46
  • #6,672of 17,882
    Most Constrained (LOEUF)0.80
Genes detectedTAF1A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Key genes linking gut microbiota, immune cells, and osteoporosis: A multi-omics approach.
PMID: 39993547
Microb Pathog · 2025
1.00
2
Genomic localization of the human genes TAF1A, TAF1B and TAF1C, encoding TAF(I)48, TAF(I)63 and TAF(I)110 subunits of class I general transcription initiation factor SL1.
PMID: 10894955
Cytogenet Cell Genet · 2000
0.90
3
TAF1A and ZBTB41 serve as novel key genes in cervical cancer identified by integrated approaches.
PMID: 33311601
Cancer Gene Ther · 2021
0.80
4
Nucleolar protein DCAF13 promotes non-small cell lung cancer cell proliferation via facilitating rDNA transcription and ribosome biogenesis.
PMID: 40902972
J Biol Chem · 2025
0.70
5
Biallelic potential disease-causing missense variants in TAF1A in two siblings with infantile restrictive cardiomyopathy.
PMID: 39209150
Eur J Med Genet · 2024
0.60