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Aliases for DBR1 Gene

Aliases for DBR1 Gene

  • Debranching RNA Lariats 1 2 3 5
  • Debranching Enzyme (S. Cerevisiae) Homolog 1 2
  • Debranching Enzyme Homolog 1 (S. Cerevisiae) 2
  • RNA Lariat Debranching Enzyme 3
  • Debranching Enzyme Homolog 1 3
  • Lariat Debranching Enzyme 3
  • EC 3.1.-.- 4

External Ids for DBR1 Gene

Previous GeneCards Identifiers for DBR1 Gene

  • GC03M134853
  • GC03M138671
  • GC03M139161
  • GC03M139201
  • GC03M139202
  • GC03M139362
  • GC03M137879
  • GC03M135254

Summaries for DBR1 Gene

Entrez Gene Summary for DBR1 Gene

  • 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 molecules that are then degraded. This protein may also be involved in retroviral replication. [provided by RefSeq, Nov 2011]

GeneCards Summary for DBR1 Gene

DBR1 (Debranching RNA Lariats 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include hydrolase activity, acting on ester bonds.

UniProtKB/Swiss-Prot for DBR1 Gene

  • Cleaves the 2-5 phosphodiester linkage at the branch point of lariat intron pre-mRNAs after splicing and converts them into linear molecules that are subsequently degraded. It thereby facilitates ribonucleotide turnover. It may also participate in retrovirus replication via an RNA lariat intermediate in cDNA synthesis.

Gene Wiki entry for DBR1 Gene

Additional gene information for DBR1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DBR1 Gene

Genomics for DBR1 Gene

GeneHancer (GH) Regulatory Elements for DBR1 Gene

Promoters and enhancers for DBR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J138173 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 669 +0.4 382 1.9 FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF213 E2F8 SP3 DBR1 A4GNT
GH03J138942 Enhancer 1.3 Ensembl ENCODE dbSUPER 28.1 -770.3 -770340 6.1 HDGF SMAD1 ATF1 POLR2B ZNF766 FOS ATF7 REST SMARCB1 ZNF592 LINC01391 FOXL2NB FOXL2 DBR1 DZIP1L ENSG00000272656 CEP70 ACTG1P1 COPB2 MRAS
GH03J138888 Enhancer 1.2 Ensembl ENCODE dbSUPER 27 -715.4 -715352 3.8 PKNOX1 FOXA2 CHAMP1 GTF3C2 IKZF2 RUNX3 NCOA1 ZNF592 ATF4 ZNF184 ATP5MC1P3 DBR1 DZIP1L PIK3CB COPB2 ACTG1P1 CEP70 FAIM A4GNT LINC01391
GH03J138373 Enhancer 0.8 dbSUPER 40 -201.5 -201529 5.2 HDAC1 PKNOX1 ZNF213 SCRT2 ZNF680 ZBTB11 ZC3H11A REST ZNF623 ZNF518A MRAS DBR1 DZIP1L ENSG00000272656 NME9 GC03M138344 GC03P138407
GH03J138875 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 18.5 -701.5 -701525 2.7 PKNOX1 SMAD1 ARNT POLR2B ZNF766 E2F8 REST ZNF592 MEF2D SMARCA4 DBR1 DZIP1L ENSG00000272656 FAIM ATP5MC1P3 PIK3CB
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DBR1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DBR1 gene promoter:
  • STAT3
  • C/EBPbeta
  • HNF-1A
  • HNF-1
  • Cdc5
  • POU3F1
  • RFX1
  • c-Myb
  • AREB6

Genomic Locations for DBR1 Gene

Genomic Locations for DBR1 Gene
chr3:138,160,988-138,174,949
(GRCh38/hg38)
Size:
13,962 bases
Orientation:
Minus strand
chr3:137,879,830-137,893,791
(GRCh37/hg19)
Size:
13,962 bases
Orientation:
Minus strand

Genomic View for DBR1 Gene

Genes around DBR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DBR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DBR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DBR1 Gene

Proteins for DBR1 Gene

  • Protein details for DBR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UK59-DBR1_HUMAN
    Recommended name:
    Lariat debranching enzyme
    Protein Accession:
    Q9UK59
    Secondary Accessions:
    • Q96GH0
    • Q9NXQ6

    Protein attributes for DBR1 Gene

    Size:
    544 amino acids
    Molecular mass:
    61555 Da
    Cofactor:
    Name=a divalent metal cation; Xref=ChEBI:CHEBI:60240;
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Cells lacking DBR1 show an inhibition of HIV-1 replication.
    SequenceCaution:
    • Sequence=AAD53327.2; Type=Frameshift; Positions=450, 463; Evidence={ECO:0000305};

    Alternative splice isoforms for DBR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DBR1 Gene

Post-translational modifications for DBR1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DBR1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DBR1 Gene

Domains & Families for DBR1 Gene

Gene Families for DBR1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for DBR1 Gene

Suggested Antigen Peptide Sequences for DBR1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UK59

UniProtKB/Swiss-Prot:

DBR1_HUMAN :
  • Belongs to the lariat debranching enzyme family.
Family:
  • Belongs to the lariat debranching enzyme family.
genes like me logo Genes that share domains with DBR1: view

Function for DBR1 Gene

Molecular function for DBR1 Gene

UniProtKB/Swiss-Prot Function:
Cleaves the 2-5 phosphodiester linkage at the branch point of lariat intron pre-mRNAs after splicing and converts them into linear molecules that are subsequently degraded. It thereby facilitates ribonucleotide turnover. It may also participate in retrovirus replication via an RNA lariat intermediate in cDNA synthesis.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is 7.0. {ECO:0000269 PubMed:2435736};

Enzyme Numbers (IUBMB) for DBR1 Gene

Phenotypes From GWAS Catalog for DBR1 Gene

Gene Ontology (GO) - Molecular Function for DBR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0008419 RNA lariat debranching enzyme activity IMP 10982890
GO:0016787 hydrolase activity IEA --
GO:0016788 hydrolase activity, acting on ester bonds IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with DBR1: view
genes like me logo Genes that share phenotypes with DBR1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for DBR1

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DBR1 Gene

Localization for DBR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DBR1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DBR1 gene
Compartment Confidence
nucleus 5
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DBR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 10982890
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with DBR1: view

Pathways & Interactions for DBR1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for DBR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000375 RNA splicing, via transesterification reactions IMP 10982890
GO:0000398 mRNA splicing, via spliceosome IEA,IBA --
GO:0006397 mRNA processing IEA --
GO:0090502 RNA phosphodiester bond hydrolysis, endonucleolytic IEA --
genes like me logo Genes that share ontologies with DBR1: view

No data available for Pathways by source and SIGNOR curated interactions for DBR1 Gene

Drugs & Compounds for DBR1 Gene

No Compound Related Data Available

Transcripts for DBR1 Gene

mRNA/cDNA for DBR1 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(77) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DBR1 Gene

Debranching enzyme homolog 1 (S. cerevisiae):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DBR1 Gene

No ASD Table

Relevant External Links for DBR1 Gene

GeneLoc Exon Structure for
DBR1
ECgene alternative splicing isoforms for
DBR1

Expression for DBR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DBR1 Gene

Protein differential expression in normal tissues from HIPED for DBR1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (24.5), Lymph node (6.2), and Blymphocyte (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DBR1 Gene



Protein tissue co-expression partners for DBR1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DBR1 Gene:

DBR1

SOURCE GeneReport for Unigene cluster for DBR1 Gene:

Hs.477700

Evidence on tissue expression from TISSUES for DBR1 Gene

  • Nervous system(4.5)
  • Intestine(4.2)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with DBR1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DBR1 Gene

Orthologs for DBR1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DBR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DBR1 34 33
  • 99.31 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DBR1 34 33
  • 91.18 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DBR1 34 33
  • 89.73 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dbr1 33
  • 84.37 (n)
mouse
(Mus musculus)
Mammalia Dbr1 16 34 33
  • 83.68 (n)
oppossum
(Monodelphis domestica)
Mammalia DBR1 34
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DBR1 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves DBR1 34 33
  • 71.88 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DBR1 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dbr1 33
  • 66.22 (n)
MGC75873 33
zebrafish
(Danio rerio)
Actinopterygii dbr1 34 33
  • 58.63 (n)
OneToOne
wufc08f08 33
fruit fly
(Drosophila melanogaster)
Insecta ldbr 34 33
  • 56.23 (n)
OneToOne
CG7942 35
  • 50 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006805 33
  • 50.61 (n)
worm
(Caenorhabditis elegans)
Secernentea dbr-1 34 35 33
  • 52.31 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DBR1 36 34
  • 34 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons DBR1 33
  • 54.22 (n)
rice
(Oryza sativa)
Liliopsida Os03g0725300 33
  • 53.36 (n)
Os.33892 33
corn
(Zea mays)
Liliopsida Zm.9438 33
wheat
(Triticum aestivum)
Liliopsida Ta.11880 33
barley
(Hordeum vulgare)
Liliopsida Hv.2439 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8440 34
  • 57 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes dbr1 33
  • 53.99 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03409 33
  • 49.29 (n)
Species where no ortholog for DBR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for DBR1 Gene

ENSEMBL:
Gene Tree for DBR1 (if available)
TreeFam:
Gene Tree for DBR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DBR1: view image

Paralogs for DBR1 Gene

No data available for Paralogs for DBR1 Gene

Variants for DBR1 Gene

Sequence variations from dbSNP and Humsavar for DBR1 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000010717 -- 138,162,853(-) A/C intron_variant
rs1000043395 -- 138,163,192(-) A/ intron_variant
rs1000314495 -- 138,167,875(-) A/T intron_variant
rs1000442683 -- 138,174,045(-) A/T intron_variant
rs1000449621 -- 138,160,714(-) C/G downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for DBR1 Gene

Variant ID Type Subtype PubMed ID
esv2751978 CNV loss 17911159
esv2759180 CNV loss 17122850
esv2762347 CNV gain 21179565
esv3597911 CNV gain 21293372
esv3597913 CNV gain 21293372
nsv428422 CNV gain+loss 18775914
nsv998106 CNV gain 25217958

Variation tolerance for DBR1 Gene

Residual Variation Intolerance Score: 36% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.47; 43.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DBR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DBR1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DBR1 Gene

Disorders for DBR1 Gene

Additional Disease Information for DBR1

No disorders were found for DBR1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DBR1 Gene

Publications for DBR1 Gene

  1. DBR1 siRNA inhibition of HIV-1 replication. (PMID: 16232320) Ye Y … Camerini D (Retrovirology 2005) 3 4 22 58
  2. Human RNA lariat debranching enzyme cDNA complements the phenotypes of Saccharomyces cerevisiae dbr1 and Schizosaccharomyces pombe dbr1 mutants. (PMID: 10982890) Kim JW … Nam K (Nucleic acids research 2000) 2 3 4 58
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for DBR1 Gene

Sources for DBR1 Gene

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