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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DBR1 Gene

protein-coding   GIFtS: 49
GCID: GC03M137879

debranching enzyme homolog 1 (S. cerevisiae)

(Previous name: debranching enzyme (S. Cerevisiae) homolog 1 )
 Explore 5 diseases affiliated with
DBR1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for DBR1    

Aliases
for DBR1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Debranching Enzyme Homolog 1 (S. Cerevisiae)1 2
Debranching Enzyme (S. Cerevisiae) Homolog 11
Lariat Debranching Enzyme2
RNA Lariat Debranching Enzyme2
EC 3.1.-.-3

External Ids:    HGNC: 155941   Entrez Gene: 511632   Ensembl: ENSG000001382317   OMIM: 6070245   UniProtKB: Q9UK593   

Export aliases for DBR1 gene to outside databases

Previous GC identifers: GC03M134853 GC03M138671 GC03M139161 GC03M139201 GC03M139202 GC03M139362 GC03M135254


Summaries
for DBR1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for DBR1:
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)

UniProtKB/Swiss-Prot: DBR1_HUMAN, Q9UK59
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 a RNA lariat intermediate in cDNA synthesis

Gene Wiki entry for DBR1


Genomic Views
for DBR1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_005612.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DBR1 gene promoter:
         RFX1   C/EBPbeta   POU3F1   Cdc5   HNF-1A   AREB6   HNF-1   STAT3   c-Myb   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: DBR1 promoter sequence
   Search SABiosciences Chromatin IP Primers for DBR1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DBR1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q22.3   Ensembl cytogenetic band:  3q22.3   HGNC cytogenetic band: 3q22.3

DBR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DBR1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M137879:  view genomic region     (about GC identifiers)

Start:
 137,879,830 bp from pter      End:
 137,893,791 bp from pter
Size:
 13,962 bases      Orientation:
 minus strand

Proteins
for DBR1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: DBR1_HUMAN, Q9UK59 (See protein sequence)
Recommended Name: Lariat debranching enzyme  
Size: 544 amino acids; 61555 Da
Cofactor: Divalent metal cations
Subcellular location: Nucleus (Probable)
Miscellaneous: Cells lacking DBR1 show an inhibition of HIV-1 replication
Sequence caution: Sequence=AAD53327.2; Type=Frameshift; Positions=450, 463;
Secondary accessions: Q96GH0 Q9NXQ6
Alternative splicing: 2 isoforms:  Q9UK59-1   Q9UK59-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DBR1: NX_Q9UK59

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UK59

    • DBR1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_057300.2  
    ENSEMBL proteins: 
     ENSP00000260803   ENSP00000417262   ENSP00000441945  

    Human Recombinant Protein Products: 
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    Uscn Proteins for DBR1

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA10982890


    DBR1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for DBR1

    Protein Domains /
    Families
    for DBR1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    DBR1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR007708 DBR1_C
     IPR004843 Metallo_PEstase_dom

    Graphical View of Domain Structure for InterPro Entry Q9UK59

    ProtoNet protein and cluster: Q9UK59

    UniProtKB/Swiss-Prot: DBR1_HUMAN, Q9UK59
    Similarity: Belongs to the lariat debranching enzyme family


    Function
    for DBR1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: DBR1_HUMAN, Q9UK59
    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 a RNA lariat intermediate in cDNA synthesis
    Catalytic activity: RNA processing activity that hydrolyzes the 2'-5' phosphodiester linkage at the branchpoint of
    excised intron lariats
    Biophysicochemical properties: pH dependence: Optimum pH is 7.0;

    Enzyme Number (IUBMB): EC 3.1.-.-1

    miRNA
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    8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate DBR1 (see all 11):
    hsa-miR-373* hsa-miR-1297 hsa-miR-550b hsa-miR-494 hsa-miR-3613-3p hsa-miR-514 hsa-miR-26a hsa-miR-616*
    SwitchGear 3'UTR luciferase reporter plasmid: DBR1 3' UTR sequence
    Inhib. RNA
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    OriGene siRNA: DBR1
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008419RNA lariat debranching enzyme activity IMP10982890
    GO:0016787hydrolase activity ----
    GO:0046872metal ion binding IEA--


    DBR1 for ontologies           About GeneDecksing



    Pathways & Interactions
    for DBR1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DBR1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/26 Interacting proteins for DBR1 (Q9UK593 ENSP000002608034) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    USO1O607633, ENSP000004116984I2D: score=4 STRING: ENSP00000411698
    CWF19L1Q69YN23, ENSP000003264114I2D: score=1 STRING: ENSP00000326411
    FEN1P397483, ENSP000003054804I2D: score=1 STRING: ENSP00000305480
    NCBP2P522983, ENSP000003268064I2D: score=1 STRING: ENSP00000326806
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000375RNA splicing, via transesterification reactions IMP10982890
    GO:0000398mRNA splicing, via spliceosome IEA--


    DBR1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for DBR1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DBR1
    Search CenterWatch for drugs/clinical trials and news about DBR1 

    Transcripts
    for DBR1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for DBR1 gene: 
    NM_016216.3  

    Unigene Cluster for DBR1:

    Debranching enzyme homolog 1 (S. cerevisiae)
    Hs.477700  [show with all ESTs]
    Unigene Representative Sequence: NM_016216
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000260803(uc003ert.3 uc003eru.3 uc003erv.3) ENST00000460271
    ENST00000477557 ENST00000463982 ENST00000505015

    miRNA
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    8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate DBR1 (see all 11):
    hsa-miR-373* hsa-miR-1297 hsa-miR-550b hsa-miR-494 hsa-miR-3613-3p hsa-miR-514 hsa-miR-26a hsa-miR-616*
    SwitchGear 3'UTR luciferase reporter plasmid: DBR1 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DBR1

    Additional cDNA sequence: 

    AF180919.2 AK000116.1 AK094147.1 BC009472.1 

    3 DOTS entries:

    DT.40108327  DT.100702978  DT.100023047 

    24/77 AceView cDNA sequences (see all 77):

    AA069408 CR626522 CD677175 H84771 BM847642 CF994204 W03379 CA308017 
    AW837996 AF180919 BX105644 BX369226 BG254149 BF990720 AA069435 AI457469 
    AK094147 AL547833 BM150284 AA765829 BI856069 BE312610 BF987317 BU166460 

    GeneLoc Exon Structure


    Expression
    for DBR1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DBR1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AACCTGAACA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    DBR1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartEndocardiumEndocardial Tube CellsEndocardium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See DBR1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DBR1

    SOURCE GeneReport for Unigene cluster: Hs.477700
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    In Situ
    Assay Products:     
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    Orthologs
    for DBR1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for DBR1 gene from 9/33 species (see all 33)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Dbr11 , 5 debranching enzyme homolog 1 (S. cerevisiae)1, 5 83.55(n)1
    86.56(a)1    		   9 (51.86 cM)5
    837031  NM_031403.31  NP_113580.21 
     995757995 
    chicken
    (Gallus gallus)    		 Aves DBR11 debranching enzyme homolog 1 (S. cerevisiae) 72.07(n)
    73.82(a)    		   429118  NM_001031566.1  NP_001026737.1 
    lizard
    (Anolis carolinensis)    		 Reptilia DBR16
    		 --
    		 66(a)
    		 1 ↔ 1
    		 GL343276.1(1648804-1660227)
    African clawed frog
    (Xenopus laevis)    		 Amphibia BC046698.12   -- 75.75(n)    BC046698.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii wufc08f082 wufc08f08 75.45(n)   323746  BC053153.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG79423
    ldbr1    		 mRNA splicing RNA lariat debranching enzyme3
    lariat debranching enzyme1    		 50(a)3
    53.72(n)1
    49.69(a)1    		   66B63
    389001  NM_139918.31  NP_648175.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea dbr-11 , 3 lariat debranching enzyme3
    Protein DBR-11    		 44(a)3
    52.31(n)1
    47.28(a)1    		   I(6498934-6500791)3
    1723571  NM_059467.41  NP_491868.21 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons DBR11 Lariat debranching enzyme 52.68(n)
    50.73(a)    		   829305  NM_119326.3  NP_567881.1 
    rice
    (Oryza sativa)    		 Liliopsida Os.338922 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 77.2(n)    AK073636.1 


    ENSEMBL Gene Tree for DBR1 (if available)
    TreeFam Gene Tree for DBR1 (if available) 

    Paralogs
    for DBR1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for DBR1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/257 NCBI SNPs in DBR1 are shown (see all 257)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 3 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1473411121,2
    		--137879459(+) AAAATC/TAAAGC 1 -- ds50010--------
    rs1931500591,2
    		--137879588(+) ACGGTA/GAAACC 1 -- ds50010--------
    rs1130884631,2
    		C,--137879696(+) AACCCG/AGGAGG 1 -- ds50011Minor allele frequency- A:0.50WA 2
    rs1448963981,2
    		--137879710(+) AGCTTC/GTAGTG 1 -- ds50010--------
    rs1844335851,2
    		--137879758(+) TGAGAC/TTGCAT 1 -- ds50010--------
    rs1475402441,2
    		--137879787(+) AAAAAA/GCTCAA 1 -- ds50010--------
    rs1876880381,2
    		--137879944(+) CAGGAA/GAAATA 1 -- ut310--------
    rs26227371,2
    		C,F,A,H,--137879993(-) AAGTCT/ATTGTA 1 -- ut3112Minor allele frequency- A:0.41NS EA NA WA CSA 772
    rs2004465971,2
    		C--137880011(-) ATTTTG/TTTTTA 1 -- ut310--------
    rs2001423721,2
    		--137880190(+) TCTTC-/AAAAAA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for DBR1 (137879830 - 137893791 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for DBR1
         2 CNVs: 8991 3449

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    Disorders / Diseases
    for DBR1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    DBR1 for disorders           About GeneDecksing

    OMIM gene information: 607024    OMIM disorders: --

    5 diseases for DBR1:    About MalaCards
    female breast cancer    subacute thyroiditis    breast cancer    thyroiditis
    malaria

    1 disease from the University of Copenhagen DISEASES database for DBR1:
    Subacute thyroiditis

    Export disorders for DBR1 gene to outside databases

    Publications
    for DBR1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DBR1 gene, integrated from 9 sources (see all 19):
    (articles sorted by number of sources associating them with DBR1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Human RNA lariat debranching enzyme cDNA complements the phenotypes of Saccharomyces cerevisiae dbr1 and Schizosaccharomyces pombe dbr1 mutants. (PubMed id 10982890)1, 2, 3 Kim J.-W.... Nam K. (2000)
    2. DBR1 siRNA inhibition of HIV-1 replication. (PubMed id 16232320)1, 2, 9 Ye Y.... Camerini D. (2005)
    3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Purification of a RNA debranching activity from HeLa cells. (PubMed id 2435736)1, 2 Arenas J. and Hurwitz J. (1987)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    8. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    9. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    10. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)

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    Entrez Gene: 51163 HGNC: 15594 AceView: DBR1 Ensembl:ENSG00000138231 euGenes: HUgn51163
    ECgene: DBR1 H-InvDB: DBR1

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