Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 51163
MIM: 607024
HGNC: 15594
Ensembl: ENSG00000138231
Variants:
dbSNP: 51163
ClinVar: 51163
TCGA: ENSG00000138231
COSMIC: DBR1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000138231 | ENST00000260803 | Q9UK59 |
| ENSG00000138231 | ENST00000477557 | F8WAY1 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37656279 | 2023 | A founder DBR1 variant causes a lethal form of congenital ichthyosis. | 1 |
| 37800682 | 2023 | Trichothiodystrophy-associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation. | 2 |
| 37656279 | 2023 | A founder DBR1 variant causes a lethal form of congenital ichthyosis. | 1 |
| 37800682 | 2023 | Trichothiodystrophy-associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation. | 2 |
| 35244467 | 2022 | The Role of DBR1 as a Candidate Prognosis Biomarker in Esophageal Squamous Cell Carcinoma. | 1 |
| 36484984 | 2022 | Crystal Structure of the RNA Lariat Debranching Enzyme Dbr1 with Hydrolyzed Phosphorothioate RNA Product. | 1 |
| 35244467 | 2022 | The Role of DBR1 as a Candidate Prognosis Biomarker in Esophageal Squamous Cell Carcinoma. | 1 |
| 36484984 | 2022 | Crystal Structure of the RNA Lariat Debranching Enzyme Dbr1 with Hydrolyzed Phosphorothioate RNA Product. | 1 |
| 28504715 | 2017 | Human DBR1 modulates the recycling of snRNPs to affect alternative RNA splicing and contributes to the suppression of cancer development. | 28 |
| 28931690 | 2017 | Conformational Changes in the 5' End of the HIV-1 Genome Dependent on the Debranching Enzyme DBR1 during Early Stages of Infection. | 10 |
| 28504715 | 2017 | Human DBR1 modulates the recycling of snRNPs to affect alternative RNA splicing and contributes to the suppression of cancer development. | 28 |
| 28931690 | 2017 | Conformational Changes in the 5' End of the HIV-1 Genome Dependent on the Debranching Enzyme DBR1 during Early Stages of Infection. | 10 |
| 26797105 | 2016 | In silico functional dissection of saturation mutagenesis: Interpreting the relationship between phenotypes and changes in protein stability, interactions and activity. | 55 |
| 26797105 | 2016 | In silico functional dissection of saturation mutagenesis: Interpreting the relationship between phenotypes and changes in protein stability, interactions and activity. | 55 |
| 25671812 | 2015 | Identification of the specific interactors of the human lariat RNA debranching enzyme 1 protein. | 5 |
Citation
Dessen P
DBR1 (debranching RNA lariats 1)
Atlas Genet Cytogenet Oncol Haematol. 2017-10-01
Online version: http://atlasgeneticsoncology.org/gene/57225/submit-meetings/new-content/
