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Aliases for DR1 Gene

Aliases for DR1 Gene

  • Down-Regulator Of Transcription 1 2 3 4 5
  • TATA-Binding Protein-Associated Phosphoprotein 3 4
  • Negative Cofactor 2-Beta 3 4
  • Negative Cofactor 2 2 3
  • NC2-BETA 3 4
  • Down-Regulator Of Transcription 1, TBP-Binding (Negative Cofactor 2) 2
  • Negative Cofactor 2 Beta 2
  • Protein Dr1 3
  • NC2B 3
  • NCB2 3
  • NC2 3

External Ids for DR1 Gene

Previous GeneCards Identifiers for DR1 Gene

  • GC01P094217
  • GC01P093017
  • GC01P093162
  • GC01P093283
  • GC01P093256
  • GC01P093523
  • GC01P093811
  • GC01P091933

Summaries for DR1 Gene

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) is a Protein Coding gene. Diseases associated with DR1 include Stargardt Disease and Metaphyseal Chondrodysplasia, Schmid Type. Among its related pathways are Chromatin organization and Chromatin Regulation / Acetylation. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and transcription factor binding.

UniProtKB/Swiss-Prot for DR1 Gene

  • 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

Additional gene information for DR1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DR1 Gene

Genomics for DR1 Gene

GeneHancer (GH) Regulatory Elements for DR1 Gene

Promoters and enhancers for DR1 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
GH01I093344 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 569.3 +1.7 1655 5.9 HDGF PKNOX1 SMAD1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 CCDC18-AS1 DR1 SNORD21 SNORA66 MTF2 DNTTIP2 CCDC18 EVI5 FNBP1L GC01M093359
GH01I092831 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 40 -512.5 -512459 4.2 CLOCK MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 RPL5 GC01P092832 SNORA66 SNORD21 CCDC18-AS1 MTF2 MIG7 DR1 GLMN RPAP2
GH01I093078 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 27.1 -265.5 -265453 4.5 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 MTF2 CCDC18-AS1 SNORA66 SNORD21 TRR-TCT1-1 GLMN RPAP2 RPL5 DR1 DNTTIP2
GH01I093177 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10 -165.9 -165913 4.8 FEZF1 DMAP1 IRF4 YY1 ZNF213 ZNF416 ZNF143 ZNF548 ZNF263 SP3 CCDC18 GC01M093180 TMED5 CCDC18-AS1 SNORA66 SNORD21 RPL5 MIG7 DNTTIP2 RPAP2
GH01I093844 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.3 +500.7 500687 4.5 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC TRR-TCT1-1 BCAR3 MIR760 PIR62105 GC01P093859 GC01P093849 CCDC18-AS1 MTF2 MIG7 DR1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DR1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DR1 gene promoter:

Genomic Locations for DR1 Gene

Genomic Locations for DR1 Gene
chr1:93,345,888-93,369,498
(GRCh38/hg38)
Size:
23,611 bases
Orientation:
Plus strand
chr1:93,811,445-93,835,055
(GRCh37/hg19)

Genomic View for DR1 Gene

Genes around DR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DR1 Gene

Proteins for DR1 Gene

  • Protein details for DR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q01658-NC2B_HUMAN
    Recommended name:
    Protein Dr1
    Protein Accession:
    Q01658

    Protein attributes for DR1 Gene

    Size:
    176 amino acids
    Molecular mass:
    19444 Da
    Quaternary structure:
    • 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 KAT14, KAT2A, TADA2L, TADA3L, ZZ3, MBIP, WDR5, YEATS2, CCDC101 and DR1.

    Three dimensional structures from OCA and Proteopedia for DR1 Gene

neXtProt entry for DR1 Gene

Post-translational modifications for DR1 Gene

  • Phosphorylation regulates its interaction with TBP. Not phosphorylated when bound to DRAP1.

Other Protein References for DR1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for DR1 (DR1)
  • Abcam antibodies for DR1

No data available for DME Specific Peptides for DR1 Gene

Domains & Families for DR1 Gene

Gene Families for DR1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for DR1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q01658

UniProtKB/Swiss-Prot:

NC2B_HUMAN :
  • Belongs to the NC2 beta/DR1 family.
Family:
  • Belongs to the NC2 beta/DR1 family.
genes like me logo Genes that share domains with DR1: view

Function for DR1 Gene

Molecular function for DR1 Gene

GENATLAS Biochemistry:
TATA binding (TBP) protein-associated phosphoprotein,(19kDa),expressed in Hela cells,inhibitor of class II and III genes transcription
UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for DR1 Gene

Gene Ontology (GO) - Molecular Function for DR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA,TAS --
GO:0003714 transcription corepressor activity TAS 8670811
GO:0005515 protein binding IPI 16189514
GO:0008134 transcription factor binding TAS 1339312
GO:0017025 TBP-class protein binding IDA 18838386
genes like me logo Genes that share ontologies with DR1: view
genes like me logo Genes that share phenotypes with DR1: view

miRNA for DR1 Gene

miRTarBase miRNAs that target DR1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DR1 Gene

Localization for DR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DR1 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 DR1 gene
Compartment Confidence
nucleus 5
peroxisome 2
cytosol 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005671 Ada2/Gcn5/Ada3 transcription activator complex IDA 18838386
genes like me logo Genes that share ontologies with DR1: view

Pathways & Interactions for DR1 Gene

genes like me logo Genes that share pathways with DR1: view

Pathways by source for DR1 Gene

1 Cell Signaling Technology pathway for DR1 Gene

Gene Ontology (GO) - Biological Process for DR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II TAS 8670811
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0043966 histone H3 acetylation IDA 18838386
genes like me logo Genes that share ontologies with DR1: view

No data available for SIGNOR curated interactions for DR1 Gene

Drugs & Compounds for DR1 Gene

No Compound Related Data Available

Transcripts for DR1 Gene

mRNA/cDNA for DR1 Gene

Unigene Clusters for DR1 Gene

Down-regulator of transcription 1, TBP-binding (negative cofactor 2):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DR1 Gene

No ASD Table

Relevant External Links for DR1 Gene

GeneLoc Exon Structure for
DR1
ECgene alternative splicing isoforms for
DR1

Expression for DR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DR1 Gene

Protein differential expression in normal tissues from HIPED for DR1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (10.6) and Tlymphocyte (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DR1 Gene



Protein tissue co-expression partners for DR1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DR1 Gene:

DR1

SOURCE GeneReport for Unigene cluster for DR1 Gene:

Hs.348418

Evidence on tissue expression from TISSUES for DR1 Gene

  • Nervous system(4)
  • Skin(2.8)
  • Blood(2.1)
  • Heart(2)
  • Intestine(2)
  • Liver(2)
genes like me logo Genes that share expression patterns with DR1: 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 DR1 Gene

Orthologs for DR1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DR1 33 34
  • 100 (n)
oppossum
(Monodelphis domestica)
Mammalia DR1 34
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DR1 33 34
  • 94.89 (n)
dog
(Canis familiaris)
Mammalia DR1 33 34
  • 93.94 (n)
mouse
(Mus musculus)
Mammalia Dr1 33 16 34
  • 93.18 (n)
rat
(Rattus norvegicus)
Mammalia LOC100910207 33
  • 92.42 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DR1 34
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves DR1 33 34
  • 85.8 (n)
lizard
(Anolis carolinensis)
Reptilia DR1 34
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dr1 33
  • 83.72 (n)
Str.1586 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.32418 33
zebrafish
(Danio rerio)
Actinopterygii dr1 33 34
  • 79.81 (n)
fruit fly
(Drosophila melanogaster)
Insecta NC2bgr 35
  • 70 (a)
NC2beta 33 34
  • 60.87 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010322 33
  • 63.18 (n)
worm
(Caenorhabditis elegans)
Secernentea dro-1 33 34
  • 54.2 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NCB2 33 34 36
  • 50.79 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C06611g 33
  • 50.67 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR397C 33
  • 44.27 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons NF-YB13 33
  • 58.13 (n)
rice
(Oryza sativa)
Liliopsida Os08g0383700 33
  • 55.92 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4043 34
  • 61 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC30D10.02 33
  • 56.37 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02017 33
  • 51.61 (n)
Species where no ortholog for DR1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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)
  • wheat (Triticum aestivum)

Evolution for DR1 Gene

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

Paralogs for DR1 Gene

(2) SIMAP similar genes for DR1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with DR1: view

No data available for Paralogs for DR1 Gene

Variants for DR1 Gene

Sequence variations from dbSNP and Humsavar for DR1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000141571 -- 93,360,334(+) G/A intron_variant
rs1000209246 -- 93,358,820(+) C/T intron_variant
rs1000310400 -- 93,356,965(+) G/A intron_variant
rs1000494221 -- 93,360,743(+) C/T 3_prime_UTR_variant
rs1001291617 -- 93,347,757(+) C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DR1 Gene

Variant ID Type Subtype PubMed ID
nsv950208 CNV duplication 24416366

Variation tolerance for DR1 Gene

Residual Variation Intolerance Score: 59.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.46; 28.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DR1 Gene

Disorders for DR1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for DR1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
stargardt disease
  • stargardt disease-1
metaphyseal chondrodysplasia, schmid type
  • mcds
vulvitis
- elite association - COSMIC cancer census association via MalaCards
Search DR1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DR1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DR1 Gene

Publications for DR1 Gene

  1. Dr1, a TATA-binding protein-associated phosphoprotein and inhibitor of class II gene transcription. (PMID: 1339312) Inostroza JA … Reinberg D (Cell 1992) 2 3 4 22 58
  2. Crystal structure of negative cofactor 2 recognizing the TBP-DNA transcription complex. (PMID: 11461703) Kamada K … Burley SK (Cell 2001) 3 4 22 58
  3. A mechanism for repression of class II gene transcription through specific binding of NC2 to TBP-promoter complexes via heterodimeric histone fold domains. (PMID: 8670811) Goppelt A … Meisterernst M (The EMBO journal 1996) 3 4 22 58
  4. Protein-protein interaction between the transcriptional repressor E4BP4 and the TBP-binding protein Dr1. (PMID: 8836190) Cowell IG … Hurst HC (Nucleic acids research 1996) 3 4 22 58
  5. Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals. (PMID: 20534741) Corneveaux JJ … Huentelman MJ (Human molecular genetics 2010) 3 44 58

Products for DR1 Gene

Sources for DR1 Gene

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