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

DR1 Gene

protein-coding   GIFtS: 60
GCID: GC01P093811

Down-Regulator Of Transcription 1, TBP-Binding (Negative...

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Down-Regulator Of Transcription 1, TBP-Binding (Negative Cofactor
2)1 2
     NC2-BETA2
Negative Cofactor 2-Beta2 3     Protein Dr12
TATA-Binding Protein-Associated Phosphoprotein2 3     NC2-beta3
NC22     Down-Regulator Of Transcription 13

External Ids:    HGNC: 30171   Entrez Gene: 18102   Ensembl: ENSG000001175057   OMIM: 6014825   UniProtKB: Q016583   

Export aliases for DR1 gene to outside databases

Previous GC identifers: GC01P094217 GC01P093017 GC01P093162 GC01P093283 GC01P093256 GC01P093523 GC01P091933


(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 DR1 Gene:
This gene encodes a TBP- (TATA box-binding protein) associated phosphoprotein that represses both basal and
activated levels of transcription. The encoded protein is phosphorylated in vivo and this phosphorylation affects
its interaction with TBP. This protein contains a histone fold motif at the amino terminus, a TBP-binding domain,
and a glutamine- and alanine-rich region. The binding of DR1 repressor complexes to TBP-promoter complexes may
establish a mechanism in which an altered DNA conformation, together with the formation of higher order
complexes, inhibits the assembly of the preinitiation complex and controls the rate of RNA polymerase II
transcription. (provided by RefSeq, Jul 2008)

GeneCards Summary for DR1 Gene: 
DR1 (down-regulator of transcription 1, TBP-binding (negative cofactor 2)) is a protein-coding gene. Diseases associated with DR1 include epidermolysis bullosa dystrophica, and stargardt disease. GO annotations related to this gene include sequence-specific DNA binding and transcription factor binding.

UniProtKB/Swiss-Prot: NC2B_HUMAN, Q01658
Function: The association of the DR1/DRAP1 heterodimer with TBP results in a functional repression of both
activated and basal transcription of class II genes. This interaction precludes the formation of a
transcription-competent complex by inhibiting the association of TFIIA and/or TFIIB with TBP. Can bind to DNA on
its own. Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4

Gene Wiki entry for DR1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DR1 gene promoter:
         TBP   AP-1   TFIID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDR1 promoter sequence
   Search SABiosciences Chromatin IP Primers for DR1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DR1


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

Entrez Gene cytogenetic band: 1p22.1   Ensembl cytogenetic band:  1p22.1   HGNC cytogenetic band: 1p22.1

DR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DR1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P093811:  view genomic region     (about GC identifiers)

Start:
93,811,445 bp from pter      End:
93,828,149 bp from pter
Size:
16,705 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NC2B_HUMAN, Q01658 (See protein sequence)
Recommended Name: Protein Dr1  
Size: 176 amino acids; 19444 Da
Subunit: Heterodimer with DRAP1. DR1 exists in solution as a homotetramer that dissociates during interaction with
TBP and then, after complexing with TBP, reassociates at a slow rate, to reconstitute the tetramer. Interacts
with NFIL3. Component of the ADA2A-containing complex (ATAC), composed of CSRP2BP, KAT2A, TADA2L, TADA3L, ZZ3,
MBIP, WDR5, YEATS2, CCDC101 and DR1
Subcellular location: Nucleus
1 PDB 3D structure from and Proteopedia for DR1:
1JFI (3D)    

Explore the universe of human proteins at neXtProt for DR1: NX_Q01658

Explore proteomics data for DR1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation regulates its interaction with TBP. Not phosphorylated when bound to DRAP1
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q01658

  • DR1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DR1 Protein Expression
    REFSEQ proteins: NP_001929.1  
    ENSEMBL proteins: 
     ENSP00000359295   ENSP00000359290  

    Human Recombinant Protein Products for DR1: 
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    OriGene Protein Over-expression Lysate for DR1
    OriGene MassSpec for DR1 
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    GenScript Custom Purified and Recombinant Proteins Services for DR1
    Novus Biologicals DR1 Proteins
    Novus Biologicals DR1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for DR1
    Cloud-Clone Corp. Proteins for DR1 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus ----
    GO:0005671Ada2/Gcn5/Ada3 transcription activator complex IDA18838386

    DR1 for ontologies           About GeneDecksing



    DR1 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for DR1 

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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for DR1 
    Cloud-Clone Corp. CLIAs for DR1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR003957 Transcrpt_fac_CBFA/NFYB_topo
     IPR027113 Dr1/Ncb2
     IPR003958 CBFA_NFYB_domain
     IPR009072 Histone-fold

    Graphical View of Domain Structure for InterPro Entry Q01658

    ProtoNet protein and cluster: Q01658

    2 Blocks protein domains:
    IPB003957 CCAAT-binding transcription factor subunit A signature
    IPB003958 Transcription factor CBF/NF-Y/archaeal histone


    UniProtKB/Swiss-Prot: NC2B_HUMAN, Q01658
    Similarity: Belongs to the NC2 beta/DR1 family
    Similarity: Contains 1 histone-fold domain


    DR1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NC2B_HUMAN, Q01658
    Function: The association of the DR1/DRAP1 heterodimer with TBP results in a functional repression of both
    activated and basal transcription of class II genes. This interaction precludes the formation of a
    transcription-competent complex by inhibiting the association of TFIIA and/or TFIIB with TBP. Can bind to DNA on
    its own. Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4

         Genatlas biochemistry entry for DR1:
    TATA binding (TBP) protein-associated phosphoprotein,(19kDa),expressed in Hela cells,inhibitor of class II and III
    genes transcription

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding TAS8670811
    GO:0003714transcription corepressor activity TAS8670811
    GO:0005515protein binding IPI18838386
    GO:0008134transcription factor binding TAS1339312
    GO:0017025TBP-class protein binding IDA18838386
         
    DR1 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for DR1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DR1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DR1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DR1 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DR1
    8/23 QIAGEN miScript miRNA Assays for microRNAs that regulate DR1 (see all 23):
    hsa-miR-21* hsa-miR-4311 hsa-miR-137 hsa-miR-200a hsa-miR-340 hsa-miR-548a-3p hsa-miR-141 hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidDR1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for DR1
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of DR1

    Clone
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    OriGene clones in human, mouse for DR1 (see all 7)
    OriGene ORF clones in mouse, rat for DR1
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    GenScript: all cDNA clones in your preferred vector (see all 6): DR1 (NM_013993)
    Sino Biological Human cDNA Clone for DR1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DR1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DR1
    Sirion Biotech Customized lentivirus for stable overexpression of DR1 
                         Customized lentivirus expression plasmids for stable overexpression of DR1 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DR1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for DR1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for DR1
        Chromatin Regulation / Acetylation




    DR1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DR1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/38 Interacting proteins for DR1 (Q016582, 3 ENSP000003592904) via UniProtKB, MINT, STRING, and/or I2D (see all 38)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    POLE3Q9NRF92, 3, ENSP000003632844MINT-67751 I2D: score=5 STRING: ENSP00000363284
    NFIL3Q166493, ENSP000002976894I2D: score=3 STRING: ENSP00000297689
    NFYCQ139523, ENSP000003966204I2D: score=3 STRING: ENSP00000396620
    TBPP202263, ENSP000002303544I2D: score=2 STRING: ENSP00000230354
    CSRP2BPQ9H8E83, ENSP000002788164I2D: score=1 STRING: ENSP00000278816
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter TAS8670811
    GO:0006351transcription, DNA-dependent IEA--
    GO:0043966histone H3 acetylation IDA18838386

    DR1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 DR1 (NC2B)

    Search CenterWatch for drugs/clinical trials and news about DR1 / NC2B

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DR1 gene: 
    NM_001938.2  

    Unigene Cluster for DR1:

    Down-regulator of transcription 1, TBP-binding (negative cofactor 2)
    Hs.348418  [show with all ESTs]
    Unigene Representative Sequence: NM_001938
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370272(uc001dpu.3) ENST00000370267 ENST00000481583
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DR1
    8/23 QIAGEN miScript miRNA Assays for microRNAs that regulate DR1 (see all 23):
    hsa-miR-21* hsa-miR-4311 hsa-miR-137 hsa-miR-200a hsa-miR-340 hsa-miR-548a-3p hsa-miR-141 hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidDR1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for DR1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DR1
    Clone
    Products:
         
    OriGene clones in human, mouse for DR1 (see all 7)
    OriGene ORF clones in mouse, rat for DR1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 6): DR1 (NM_013993)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DR1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DR1
    Sirion Biotech Customized lentivirus for stable overexpression of DR1 
                         Customized lentivirus expression plasmids for stable overexpression of DR1 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for DR1
    OriGene qSTAR qPCR primer pairs in human, mouse for DR1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DR1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DR1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DR1

    Additional mRNA sequence: 

    AK057541.1 AK223442.1 AK311288.1 AL137673.1 AL833729.1 BC002809.2 BC035507.2 BC068553.1 
    BT006972.1 M97388.1 

    7 DOTS entries:

    DT.91753483  DT.86854700  DT.97793415  DT.100796265  DT.95277853  DT.121451584  DT.95277859 

    24/230 AceView cDNA sequences (see all 230):

    BI859129 W79798 AW516932 AA707997 BM977940 AI767380 BQ231053 CR590361 
    CD365264 CR609983 AI083576 CB215131 BM052952 BM699348 W74247 BF513737 
    BM930741 BU186361 AI453362 BM127445 BU688547 NM_001938 BG610966 BX957166 

    GeneLoc Exon Structure


    (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

    DR1 expression in normal human tissues (normalized intensities)      DR1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGTGCATTT
    DR1 Expression
    About this image


    DR1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/34 selected tissues (see all 34) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Blood (Cardiovascular System)    fully expand to see all 4 entries
             T Helper Cells Thymus
             lung ; macrophages   
             stem cells (umbilical cord cd34+)   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex

    See DR1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DR1

    SOURCE GeneReport for Unigene cluster: Hs.348418
        SABiosciences Expression via Pathway-Focused PCR Array including DR1: 
              Transcription Factors in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for DR1
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DR1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DR1

    (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 DR1 gene from 10/24 species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dr11 , 5 down-regulator of transcription 11, 5 93.18(n)1
    99.43(a)1
      5 (52.82 cM)5
    134861  NM_026106.41  NP_080382.21 
     1082688975 
    chicken
    (Gallus gallus)
    Aves DR11 down-regulator of transcription 1, TBP-binding (negative more 85.8(n)
    98.86(a)
      424496  NM_001008478.1  NP_001008478.1 
    lizard
    (Anolis carolinensis)
    Reptilia DR16
    Uncharacterized protein
    94(a)
    1 ↔ 1
    4(88271556-88287069)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.324182 Xenopus laevis transcribed sequence with strong similarity more 80.14(n)    BJ632672.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dr11 down-regulator of transcription 1 79.17(n)
    93.75(a)
      768171  NM_001077314.1  NP_001070782.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta NC2&bgr;3
    NC2beta1
    negative regulation of transcriptional
    pre-initiation more3
    CG4185-PA1
    70(a)3
    56.92(n)1
    61.4(a)1
      35B83
    348751  NM_135892.31  NP_609736.11 
    worm
    (Caenorhabditis elegans)
    Secernentea dro-11 Protein DRO-1 53.67(n)
    44.65(a)
      191629  NM_067349.1  NP_499750.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NCB2(YDR397C)4
    NCB21
    Subunit of a heterodimeric NC2 transcription regulator more4
    Ncb2p1
    50.26(n)1
    40.62(a)1
      4(1266898-1266366)4
    8520061, 4  NP_010685.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons NF-YB121 nuclear factor Y, subunit B12 53.33(n)
    44.83(a)
      830715  NM_120902.2  NP_568190.1 
    rice
    (Oryza sativa)
    Liliopsida Os08g03837001 hypothetical protein 52.45(n)
    44.06(a)
      4345446  NM_001068233.1  NP_001061698.1 


    ENSEMBL Gene Tree for DR1 (if available)
    TreeFam Gene Tree for DR1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DR1 gene
    2 SIMAP similar genes for DR1 using alignment to 1 protein entry:     NC2B_HUMAN:
    DKFZp666G145    NFYB

    DR1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/272 SNPs in DR1 are shown (see all 272)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs7714641,2
    C,F,H--93813430(-) ATTACG/AAAAGG 1 -- int113Minor allele frequency- A:0.14NA WA CSA EA 379
    rs1811924361,2
    --93813603(+) GACCAC/TATCCA 1 -- int10--------
    rs1388084401,2
    C--93813619(+) TTACTC/TTCAGT 1 -- int10--------
    rs7714631,2
    C,F,A,H--93813999(+) TTTCAA/GCAGGG 1 -- int124Minor allele frequency- G:0.28MN NS EA NA WA CSA 2529
    rs1855882371,2
    --93814091(+) GAGAGG/TTGATT 1 -- int10--------
    rs1135244771,2
    C,F--93814118(+) TTAGAC/TTTCTG 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs1142887361,2
    F--93814306(+) TTTAAA/GAATTT 1 -- int11Minor allele frequency- G:0.02WA 118
    rs37679611,2
    C,F--93814335(+) ATGCTA/GTTCTT 1 -- int11Minor allele frequency- G:0.01EA 1498
    rs1447341851,2
    --93814391(+) TTGGGA/GTTGTA 1 -- int10--------
    rs1485231661,2
    --93814407(+) TATACA/GTTTAT 1 -- int10--------

    HapMap Linkage Disequilibrium report for DR1 (93811445 - 93828149 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for DR1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv871640CNV Loss21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601482    OMIM disorders: --

    5 diseases for DR1:    About MalaCards
    epidermolysis bullosa dystrophica    stargardt disease    epidermolysis bullosa    hypoxia
    neuroblastoma


    DR1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): DR1
    Human Genome Epidemiology (HuGE) Navigator: DR1 (28 documents)

    Export disorders for DR1 gene to outside databases

    (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 DR1 gene, integrated from 9 sources (see all 61):
    (articles sorted by number of sources associating them with DR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Dr1, a TATA-binding protein-associated phosphoprotein and inhibitor of class II gene transcription. (PubMed id 1339312)1, 2, 3, 9 Inostroza J.A.... Reinberg D. (1992)
    2. A mechanism for repression of class II gene transcription through specific binding of NC2 to TBP-promoter complexes via heterodimeric histone fold domains. (PubMed id 8670811)1, 2, 9 Goppelt A.R.... Meisterernst M. (1996)
    3. Protein-protein interaction between the transcriptional repressor E4BP4 and the TBP-binding protein Dr1. (PubMed id 8836190)1, 2, 9 Cowell I.G. and Hurst H.C. (1996)
    4. Crystal structure of negative cofactor 2 recognizing the TBP-DNA transcription complex. (PubMed id 11461703)1, 2, 9 Kamada K.... Burley S.K. (2001)
    5. Association of CR1, CLU and PICALM with Alzheimer's d isease in a cohort of clinically characterized and neuropathologically verified individuals. (PubMed id 20534741)1, 4 Corneveaux J.J....Huentelman M.J. (2010)
    6. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    7. 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)
    8. Genomic localization of the human gene encoding Dr1, a negative modulator of transcription of class II and class III genes. (PubMed id 9040789)1, 3 Purrello M....Sichel G. (1996)
    9. Involvement of GTA protein NC2beta in neuroblastoma pathogenesis suggests that it physiologically participates in the regulation of cell proliferation. (PubMed id 18538002)1, 9 Di Pietro C....Purrello M. (2008)
    10. Basal core promoters control the equilibrium between negative cofactor 2 and preinitiation complexes in human cells. (PubMed id 20230619)1, 9 Albert T.K....Meisterernst M. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1810 HGNC: 3017 AceView: DR1 Ensembl:ENSG00000117505 euGenes: HUgn1810
    ECgene: DR1 H-InvDB: DR1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DR1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DR1 gene:
    Search GeneIP for patents involving DR1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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