TUT1: Terminal Uridylyl Transferase 1, U6 snRNA-Specific
A key enzyme in RNA processing and modification, implicated in cellular homeostasis and disease.
Gene Information Card
| Symbol | TUT1 |
|---|---|
| Full Name | Terminal Uridylyl Transferase 1, U6 snRNA-Specific |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 64852 ncbi.nlm.nih.gov/gene/64852 |
| Ensembl ID | ENSG00000149021 |
| UniProt ID | Q9H6E5 |
| OMIM ID | 610055 |
| HGNC ID | 26159 |
| Aliases | PAPD2, TUTase1, U6 TUTase, RP11-54O7.1 |
Description
TUT1 (Terminal Uridylyl Transferase 1, U6 snRNA-Specific) encodes a nuclear enzyme that specifically adds uridine residues to the 3' end of U6 small nuclear RNA (snRNA), a critical component of the spliceosome. This uridylation is essential for U6 snRNA maturation and stability, thereby influencing pre-mRNA splicing. TUT1 also participates in the regulation of other non-coding RNAs and has been linked to cellular proliferation and differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis Pigmentosa | Dysregulation of U6 snRNA processing may affect splicing of retinal genes, leading to photoreceptor degeneration. | ClinVar; PMID: 25466846 |
| Cancer (various) | Altered TUT1 expression or mutation may disrupt RNA splicing and non-coding RNA regulation, contributing to oncogenesis. | COSMIC; PMID: 28481328 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 8.2 | Medium |
| Prostate | 7.1 | Medium |
| Brain (cerebellum) | 6.8 | Low |
| Heart | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.3 | Cervical cancer cell line |
| K562 | 9.1 | Leukemia cell line |
| HepG2 | 7.8 | Liver cancer cell line |
| A549 | 6.5 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1246C>T (p.Arg416Trp) | Missense | <0.01% | Unknown; reported in ClinVar as variant of uncertain significance |
| c.187G>A (p.Gly63Arg) | Missense | <0.01% | Unknown; reported in ClinVar as likely benign |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; potential loss of uridylyl transferase activity may impair U6 snRNA processing.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA uridylyltransferase activity | • U6 snRNA binding |
| • nucleus | • mRNA splicing |
| • via spliceosome | • RNA processing |
Pathways
• mRNA Splicing - Major Pathway
• U6 snRNA 3' end processing
Protein Summary
TUT1 is a 874-amino acid nuclear protein containing a PAP/25A-associated domain and a nucleotidyltransferase domain. It specifically uridylates the 3' end of U6 snRNA, a modification required for U6 snRNA stability and function in pre-mRNA splicing. The enzyme acts processively and is regulated by phosphorylation. TUT1 also interacts with other spliceosomal components and may have broader roles in RNA surveillance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| Tut1 Knockout 3T3-L1 Cell Line | EDJ-KZ70 | Mouse | 70044 | Details Get a Quote |
