DBR1 (debranching RNA lariats 1)

2017-10-01 Affiliation

Identity

HGNC

DBR1

LOCATION

3q22.3

LOCUSID

51163

ALIAS

FUSION GENES

Show Gene Fusions

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)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Protein levels (Protein atlas)

Not detected

Low

Medium

High

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