Gene Gene information from NCBI Gene database.
Entrez ID 51163
Gene name Debranching RNA lariats 1
Gene symbol DBR1
Synonyms (NCBI Gene)
XGIP
Chromosome 3
Chromosome location 3q22.3
Summary The protein encoded by this gene is an RNA lariat debranching enzyme that hydrolyzes 2`-5` prime branched phosphodiester bonds. The encoded protein specifically targets the bonds at the branch point of excised lariat intron RNA, converting them to linear
miRNA miRNA information provided by mirtarbase database.
255
miRTarBase ID miRNA Experiments Reference
MIRT038937 hsa-miR-31-3p CLASH 23622248
MIRT704361 hsa-miR-4753-5p HITS-CLIP 23313552
MIRT704360 hsa-miR-3154 HITS-CLIP 23313552
MIRT704359 hsa-miR-128-3p HITS-CLIP 23313552
MIRT704358 hsa-miR-216a-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0000292 Process RNA fragment catabolic process IMP 37656279
GO:0000375 Process RNA splicing, via transesterification reactions IMP 10982890
GO:0000398 Process MRNA splicing, via spliceosome IBA
GO:0000398 Process MRNA splicing, via spliceosome IEA
GO:0003723 Function RNA binding HDA 22658674
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607024 15594 ENSG00000138231
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UK59
Protein name Lariat debranching enzyme (EC 3.1.4.-)
Protein function Cleaves the 2'-5' phosphodiester linkage at the branch point of excised lariat intron RNA and converts them into linear molecules that can be subsequently degraded, thereby facilitating ribonucleotide turnover (PubMed:10982890, PubMed:16232320,
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00149 Metallophos 1 230 Calcineurin-like phosphoesterase Domain
PF05011 DBR1 246 379 Lariat debranching enzyme, C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed, strongest expression in the spinal cord and brainstem. {ECO:0000269|PubMed:29474921}.
Sequence
Sequence length 544
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Encephalitis, acute, infection (viral)-induced, susceptibility to, 11 Pathogenic rs1373357744 RCV004594929
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRAIN DISEASES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DBR1-related disorder Likely benign; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 23104007
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis CTD_human_DG 23104007
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 36484984 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis With Dementia Amyotrophic Lateral Sclerosis With Dementia CTD_human_DG 23104007
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis, Guam Form Amyotrophic lateral sclerosis CTD_human_DG 23104007
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 11349219
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 11349219 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 35244467 Associate
★☆☆☆☆
Found in Text Mining only
Encephalitis Encephalitis BEFREE 31806906
★☆☆☆☆
Found in Text Mining only
Episcleritis Episcleritis BEFREE 9822977
★☆☆☆☆
Found in Text Mining only