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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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TUT1
terminal uridylyl transferase 1, U6 snRNA-specific
Chromosome 11 Β· 11q12.3
NCBI Gene: 64852Ensembl: ENSG00000149016.16HGNC: HGNC:26184UniProt: A0A0A8K9B1
55PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
histone mRNA catabolic processmRNA cleavage and polyadenylation specificity factor complexco-transcriptional mRNA 3'-end processing, cleavage and polyadenylation pathwaynucleoplasmneurodegenerative diseaseAbnormal brain morphologybreast cancerintestinal disease
✦AI Summary

TUT1 (terminal uridylyl transferase 1) is a specialized RNA-modifying enzyme that functions primarily as a U6 snRNA-specific terminal uridylyltransferase essential for pre-mRNA splicing 1. The enzyme catalyzes the addition of oligouridine tails to the 3'-end of U6 snRNA, creating the Lsm-binding site required for U4/U6 di-snRNP formation and subsequent spliceosome assembly 12. TUT1 recognizes U6 snRNA through multiple domains including N-terminal zinc finger-RNA recognition motifs, catalytic domains, and a C-terminal RNA-binding domain, ensuring substrate specificity 13. The enzyme continues uridylylation until internal adenosine tracts in U6 snRNA can base-pair with the 3'-oligouridine tract 2. Beyond its role in splicing machinery assembly, TUT1 is critical for cancer cell survival, particularly in pancreatic adenocarcinoma, where it maintains tri-snRNP pools necessary for splicing transcripts with weak splice sites 4. TUT1 activity is regulated through ubiquitination by deubiquitinases USP15 and USP4, which control its subcellular localization between nucleolus and nucleoplasm 56. This regulation affects global RNA metabolism and maintains cellular homeostasis, with dysregulation linked to neurodegenerative processes and cancer progression.

Sources cited
1
TUT1 functions as U6 snRNA-specific terminal uridylyltransferase required for pre-mRNA splicing
PMID: 28589955
2
TUT1 oligouridylation provides Lsm-binding site for U4/U6 di-snRNP formation and continues until internal adenosine tracts base-pair with oligouridine tract
PMID: 37563152
3
TUT1 recognizes U6 snRNA through multiple domains including zinc finger-RNA recognition motifs and C-terminal RNA-binding domain
PMID: 39831302
4
TUT1 is critical for pancreatic cancer cell survival by maintaining tri-snRNP pools for splicing weak splice sites
PMID: 39854320
5
USP15 deubiquitinates TUT1 and redistributes it from nucleolus to nucleoplasm, affecting global RNA metabolism
PMID: 32839293
6
USP4 also regulates TUT1 ubiquitination status and subcellular localization
PMID: 38310689
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.52Moderate
Abnormal brain morphologyOpen Targets
0.27Weak
breast cancerOpen Targets
0.05Suggestive
intestinal diseaseOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.03Suggestive
infectionOpen Targets
0.02Suggestive
cancerOpen Targets
0.01Suggestive
osteosarcomaOpen Targets
0.01Suggestive
breast neoplasmOpen Targets
0.01Suggestive
retinitis pigmentosaOpen Targets
0.01Suggestive
human african trypanosomiasisOpen Targets
0.00Suggestive
astrocytomaOpen Targets
0.00Suggestive
head and neck carcinomaOpen Targets
0.00Suggestive
hepatitis C virus infectionOpen Targets
0.00Suggestive
neuroblastomaOpen Targets
0.00Suggestive
Malignant Bone NeoplasmOpen Targets
0.00Suggestive
primary ciliary dyskinesiaOpen Targets
0.00Suggestive
Sjogren syndromeOpen Targets
0.00Suggestive
cardiac hypertrophyOpen Targets
0.00Suggestive
ovarian cancerOpen Targets
0.00Suggestive
Pathogenic Variants1
NM_022830.3(TUT1):c.1297G>A (p.Ala433Thr)Likely pathogenic
Abnormal brain morphology
β˜…β˜†β˜†β˜†β†’ Residue 433
View on ClinVar β†—
Related Genes
PRPF3Protein interaction100%LSM5Protein interaction100%PRPF31Protein interaction100%PRPF4Protein interaction100%CPSF3Protein interaction99%CSTF2Protein interaction95%
Tissue Expression6 tissues
Liver
100%
Ovary
44%
Lung
38%
Brain
28%
Heart
26%
Bone Marrow
18%
Gene Interaction Network
Click a node to explore
TUT1PRPF3LSM5PRPF31PRPF4CPSF3CSTF2
PROTEIN STRUCTURE
Preparing viewer…
PDB5WU3 Β· 2.70 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.80LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.59 [0.44–0.80]
RankingsWhere TUT1 stands among ~20K protein-coding genes
  • #8,263of 20,598
    Most Researched55
  • #5,071of 5,498
    Most Pathogenic Variants1
  • #6,596of 17,882
    Most Constrained (LOEUF)0.80
Genes detectedTUT1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Crystal structures of U6 snRNA-specific terminal uridylyltransferase.
PMID: 28589955
Nat Commun Β· 2017
1.00
2
Targeting TUT1 Depletes Tri-snRNP Pools to Suppress Splicing and Inhibit Pancreatic Cancer Cell Survival.
PMID: 39854320
Cancer Res Β· 2025
0.90
3
Mechanism of U6 snRNA oligouridylation by human TUT1.
PMID: 37563152
Nat Commun Β· 2023
0.80
4
USP15 Deubiquitinates TUT1 Associated with RNA Metabolism and Maintains Cerebellar Homeostasis.
PMID: 32839293
Mol Cell Biol Β· 2020
0.70
5
Function and Regulation of Human Terminal Uridylyltransferases.
PMID: 30483311
Front Genet Β· 2018
0.60