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

DRC1 Gene

protein-coding   GIFtS: 34
GCID: GC02P026626

Dynein Regulatory Complex Subunit 1 Homolog (Chlamydomonas)

(Previous names: chromosome 2 open reading frame 39, coiled-coil domain containing...)
(Previous symbols: C2orf39, CCDC164)
  Search for DRC1
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
Dynein Regulatory Complex Subunit 1 Homolog (Chlamydomonas)1 2     Coiled-Coil Domain-Containing Protein 1642 3
C2orf391 2 3     Chromosome 2 Open Reading Frame 391
CCDC1641 2 3     CILD212
Coiled-Coil Domain Containing 1641 2     Dynein Regulatory Complex Protein 12

External Ids:    HGNC: 242451   Entrez Gene: 927492   Ensembl: ENSG000001578567   OMIM: 6152885   UniProtKB: Q96MC23   

Export aliases for DRC1 gene to outside databases


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

GeneCards Summary for DRC1 Gene: 
DRC1 (dynein regulatory complex subunit 1 homolog (Chlamydomonas)) is a protein-coding gene.

UniProtKB/Swiss-Prot: DRC1_HUMAN, Q96MC2
Function: Key component of the nexin-dynein regulatory complex (N-DRC), essential for N-DRC integrity. Required
for the assembly and regulation of specific classes of inner dynein arm motors. May also function to restrict
dynein-driven microtubule sliding, thus aiding in the generation of ciliary bending




(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_000002.11  NT_022184.15  NC_018913.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for DRC1
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for DRC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DRC1


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

Entrez Gene cytogenetic band: 2p23.3   Ensembl cytogenetic band:  2p23.3   HGNC cytogenetic band: 2p23.3

DRC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DRC1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P026626:  view genomic region     (about GC identifiers)

Start:
26,624,784 bp from pter      End:
26,679,579 bp from pter
Size:
54,796 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: DRC1_HUMAN, Q96MC2 (See protein sequence)
Recommended Name: Dynein regulatory complex protein 1  
Size: 740 amino acids; 87134 Da
Subcellular location: Cytoplasm, cytoskeleton, cilium axoneme (By similarity)
Secondary accessions: A8K1N8 Q53R91 Q53TA3 Q8NDI5

Explore the universe of human proteins at neXtProt for DRC1: NX_Q96MC2

Explore proteomics data for DRC1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96MC2

  • DRC1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DRC1 Protein Expression
    REFSEQ proteins: NP_659475.2  
    ENSEMBL proteins: 
     ENSP00000288710   ENSP00000414375   ENSP00000413942   ENSP00000395215  

    Human Recombinant Protein Products for DRC1: 
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    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005856cytoskeleton IEA--
    GO:0035085cilium axoneme ISS--

    DRC1 for ontologies           About GeneDecksing



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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: Q96MC2

    UniProtKB/Swiss-Prot: DRC1_HUMAN, Q96MC2
    Similarity: Belongs to the DRC1 family


    (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: DRC1_HUMAN, Q96MC2
    Function: Key component of the nexin-dynein regulatory complex (N-DRC), essential for N-DRC integrity. Required
    for the assembly and regulation of specific classes of inner dynein arm motors. May also function to restrict
    dynein-driven microtubule sliding, thus aiding in the generation of ciliary bending

    Phenotypes:
         1 GenomeRNAi human phenotype for DRC1:

     Decreased homologous recombina 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ccdc164):
     cardiovascular system  growth/size 

    DRC1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for DRC1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DRC1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DRC1 
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    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DRC1


    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DRC1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0060285ciliary cell motility IMP--
    GO:0070286axonemal dynein complex assembly IMP--

    DRC1 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 DRC1

    Search CenterWatch for drugs/clinical trials and news about DRC1

    (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 DRC1 gene: 
    NM_145038.2  

    Unigene Cluster for DRC1:

    Dynein regulatory complex subunit 1 homolog (Chlamydomonas)
    Hs.393714  [show with all ESTs]
    Unigene Representative Sequence: AK128286
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000288710(uc010eym.1 uc002rhg.2) ENST00000421869 ENST00000487307
    ENST00000497651 ENST00000442810 ENST00000483675 ENST00000439066
    miRNA
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    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DRC1
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    GenScript Custom all cDNA clones Services for DRC1
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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat DRC1
    Sirion Biotech Customized lentivirus for stable overexpression of DRC1 
                         Customized lentivirus expression plasmids for stable overexpression of DRC1 
    Primer
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    Additional mRNA sequence: 

    AK057222.1 AK128286.1 AK289953.1 AK307094.1 AL833892.1 BC009488.2 

    4 DOTS entries:

    DT.305827  DT.101956888  DT.120973533  DT.92051033 

    24/26 AceView cDNA sequences (see all 26):

    BX107037 CA439240 AI275803 AI198699 CB852135 BP368938 BE747297 BV205322 
    NM_145038 AK057222 BM908084 BI831978 BC009488 CB305825 BI562695 AL833892 
    AI807395 AW182804 AA813635 AW592665 AA972333 AA936140 CD359048 BE620042 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for DRC1 (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18
    SP1:              -           -                       -                                                                                 
    SP2:                                      -           -                                                                                 
    SP3:              -           -           -                                                                                             
    SP4:                                                                                                                                    
    SP5:                                                                                                                                    


    ECgene alternative splicing isoforms for DRC1

    (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

    DRC1 expression in normal human tissues (normalized intensities)      DRC1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    DRC1 Expression
    About this image


    DRC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Pancreas (Endocrine System)
             Posterior foregut-like cells ( A scalable, suspension protocol for derivation of...

    See DRC1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DRC1

    SOURCE GeneReport for Unigene cluster: Hs.393714
        SABiosciences Custom PCR Arrays for DRC1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DRC1

    (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 animals.

    Orthologs for DRC1 gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc1641 , 5 coiled-coil domain containing 1641, 5 79.16(n)1
    76.32(a)1
      5 (16.42 cM)5
    3817381  NM_001033460.31  NP_001028632.11 
     303416635 
    chicken
    (Gallus gallus)
    Aves CCDC1641 coiled-coil domain containing 164 62.65(n)
    56.23(a)
      422009  XM_420016.3  XP_420016.3 
    lizard
    (Anolis carolinensis)
    Reptilia CCDC1646
    Uncharacterized protein
    48(a)
    1 ↔ 1
    GL343951.1(38980-71410)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC688772 hypothetical protein MGC68877 74.94(n)    BC055987.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ccdc1641 coiled-coil domain containing 164 59.14(n)
    48.85(a)
      100034551  NM_001127468.1  NP_001120940.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG109581 CG10958 43.74(n)
    28.63(a)
      31736  NM_132217.3  NP_572445.1 


    ENSEMBL Gene Tree for DRC1 (if available)
    TreeFam Gene Tree for DRC1 (if available)

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

    (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

    10/1286 SNPs in DRC1 are shown (see all 1286)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs354061281,2
    C--26622995(+) CTAGA-/GAGAGC 1 -- us2k11Minor allele frequency- G:0.00NA 2
    rs67108901,2
    C,F--26623016(+) gacaaG/Acttgg 1 -- us2k12Minor allele frequency- A:0.10CSA WA 120
    rs1843349691,2
    --26623044(+) AGGGGA/TGAGGC 1 -- us2k10--------
    rs1892339431,2
    --26623049(+) TGAGGC/TTGGGA 1 -- us2k10--------
    rs67138491,2
    C,F,A,H--26623160(+) gctgcT/Gtaaaa 1 -- us2k123Minor allele frequency- G:0.26NS EA NA WA CSA 2348
    rs783076031,2
    C,F--26623198(+) AAAAAT/CGGAGT 1 -- us2k11Minor allele frequency- C:0.04EA 120
    rs1179262041,2
    C,F--26623216(+) CTTATA/TTAAAA 1 -- us2k11Minor allele frequency- T:0.05EA 120
    rs1927807871,2
    --26623357(+) TATCCC/TACTCC 1 -- us2k10--------
    rs1418041331,2
    --26623374(+) TAGACA/GTGCGC 1 -- us2k10--------
    rs739202711,2
    C,F--26623375(+) AGACAT/CGCGCA 1 -- us2k13Minor allele frequency- C:0.07WA NA 240

    HapMap Linkage Disequilibrium report for DRC1 (26624784 - 26679579 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for DRC1: --
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing DRC1
    DNA2.0 Custom Variant and Variant Library Synthesis for DRC1

    (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

    DRC1 for disorders           About MalaCards
    OMIM gene information: 615288    OMIM disorders: --

    UniProtKB/Swiss-Prot: DRC1_HUMAN, Q96MC2
  • Note=Defects in DRC1 are the cause of primary ciliary dyskinesia. A disorder characterized by
    abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are
    recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to
    abnormalities of sperm tails


  • DRC1 for disorders           About GeneDecksing


    Export disorders for DRC1 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 DRC1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with DRC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans. (PubMed id 23354437)1, 2, 3 Wirschell M....Omran H. (2013)
    2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. (PubMed id 23319000)1 Luykx J.J....Ophoff R.A. (2013)
    5. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    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: 92749 HGNC: 24245 AceView: MGC16372 Ensembl:ENSG00000157856 euGenes: HUgn92749
    ECgene: DRC1 H-InvDB: DRC1

    (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 DRC1 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 DRC1 gene:
    Search GeneIP for patents involving DRC1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
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     Search Regulatory tfbs for DRC1
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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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    (GIFtS: 73)
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