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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ABT1
activator of basal transcription 1
Chromosome 6 · 6p22.2
NCBI Gene: 29777Ensembl: ENSG00000146109.6HGNC: HGNC:17369UniProt: Q9ULW3
61PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingRNA bindingendonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)neurodegenerative diseasespinocerebellar ataxia type 17sudden infant death syndromesystemic lupus erythematosus
✦AI Summary

ABT1 (activator of basal transcription 1) is a nuclear protein that functions in both transcriptional regulation and ribosome biogenesis. ABT1 enhances RNA polymerase II-directed basal transcription by binding to the TATA-binding protein (TBP) and DNA 1. The protein localizes to both the nucleolus and nucleoplasm, consistent with dual roles in transcription and pre-rRNA processing 1. ABT1 physically interacts with IGHMBP2, a UPF1-like helicase, significantly enhancing its ATPase and helicase activities and processivity 2. The IGHMBP2/ABT1 complex associates with the 47S pre-rRNA 5' external transcribed spacer and U3 snoRNA, indicating involvement in pre-rRNA processing 2. ABT1 also associates with tRNAs, particularly tRNA(Tyr), and interacts with transcription factor IIIC-220 and ribosome biogenesis helicases Reptin and Pontin, suggesting a role in the translational machinery 3. Clinically, ABT1 serves as a disease modifier for SMARD1, with intracerebroventricular injection of ABT1 significantly increasing lifespan and reducing neuromuscular junction denervation in mouse models 2. ABT1's activity is negatively regulated by ABTAP, which disrupts ABT1-TBP interactions and suppresses transcriptional activation 1.

Sources cited
1
ABT1 enhances RNA polymerase II-directed basal transcription by binding TBP and DNA, and localizes to nucleolus and nucleoplasm
PMID: 15660422
2
ABT1 interacts with IGHMBP2, enhances its ATPase/helicase activities, and the complex associates with pre-rRNA processing components
PMID: 36480289
3
ABT1 associates with tRNAs, TFIIIC-220, and ribosome biogenesis helicases, suggesting role in translational machinery
PMID: 19299493
4
ABT1 serves as a disease modifier for SMARD1, improving lifespan and reducing pathology in mouse models
PMID: 36480289
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.44Moderate
spinocerebellar ataxia type 17Open Targets
0.01Suggestive
sudden infant death syndromeOpen Targets
0.01Suggestive
systemic lupus erythematosusOpen Targets
0.01Suggestive
systemic sclerodermaOpen Targets
0.01Suggestive
nervous system diseaseOpen Targets
0.01Suggestive
atherosclerosisOpen Targets
0.01Suggestive
genetic disorderOpen Targets
0.01Suggestive
sleep apneaOpen Targets
0.01Suggestive
Parkinson diseaseOpen Targets
0.01Suggestive
AtaxiaOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
cerebellar ataxiaOpen Targets
0.01Suggestive
colorectal carcinomaOpen Targets
0.01Suggestive
obesityOpen Targets
0.01Suggestive
adrenal cortex carcinomaOpen Targets
0.01Suggestive
bipolar disorderOpen Targets
0.01Suggestive
giardiasisOpen Targets
0.01Suggestive
major depressive disorderOpen Targets
0.01Suggestive
schizophreniaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DDX10Protein interaction100%DDX18Protein interaction100%UTP25Protein interaction100%UTP6Protein interaction100%ESF1Protein interaction100%UTP18Protein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
54%
Lung
46%
Ovary
44%
Heart
38%
Brain
34%
Gene Interaction Network
Click a node to explore
ABT1DDX10DDX18UTP25UTP6ESF1UTP18
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9ULW3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.20LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.77 [0.51–1.20]
RankingsWhere ABT1 stands among ~20K protein-coding genes
  • #7,531of 20,598
    Most Researched61
  • #12,604of 17,882
    Most Constrained (LOEUF)1.20
Genes detectedABT1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
ABT1 modifies SMARD1 pathology via interactions with IGHMBP2 and stimulation of ATPase and helicase activity.
PMID: 36480289
JCI Insight · 2023
1.00
2
The contribution and therapeutic implications of IGHMBP2 mutations on IGHMBP2 biochemical activity and ABT1 association.
PMID: 38403020
Biochim Biophys Acta Mol Basis Dis · 2024
0.90
3
ABT1-associated protein (ABTAP), a novel nuclear protein conserved from yeast to mammals, represses transcriptional activation by ABT1.
PMID: 15660422
J Cell Biochem · 2004
0.80
4
Isolation and characterization of a novel phage AbT1 and evaluating its anti-biofilm activity and antibiotic synergy.
PMID: 41746453
Mol Biol Rep · 2026
0.70
5
Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery.
PMID: 19299493
Hum Mol Genet · 2009
0.60