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DRC1 Gene

protein-coding   GIFtS: 36
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)
  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)
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Aliases
Dynein Regulatory Complex Subunit 1 Homolog (Chlamydomonas)1 2     Coiled-Coil Domain-Containing Protein 1642 3
C2orf391 2 3 5     CILD212 5
CCDC1641 2 3 5     Chromosome 2 Open Reading Frame 391
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for DRC1 Gene:
DRC1 (dynein regulatory complex subunit 1 homolog (Chlamydomonas)) is a protein-coding gene. Diseases associated with DRC1 include ciliary dyskinesia, primary, 21, and ciliary dyskinesia, primary, 19.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NT_022184.16  NC_018913.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for DRC1
         Other transcription factors

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

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: DRC1_HUMAN, Q96MC2 (See protein sequence)
Recommended Name: Dynein regulatory complex protein 1  
Size: 740 amino acids; 87134 Da
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DRC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_659475.2  
    ENSEMBL proteins: 
     ENSP00000288710   ENSP00000414375   ENSP00000413942   ENSP00000395215  

    DRC1 Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

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    ThermoFisher Antibodies for DRC1
    Search LSBio for Antibodies for DRC1

    DRC1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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 2 alleles(MGI details for Ccdc164):
     cardiovascular system  growth/size/body 

    DRC1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DRC1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DRC1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DRC1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DRC1

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidDRC1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DRC1

    Gene Editing
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    Clone
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    GenScript Custom all cDNA clones Services for DRC1
    Sino Biological Human cDNA Clone for DRC1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DRC1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat DRC1

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DRC1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DRC1_HUMAN, Q96MC2: Cytoplasm, cytoskeleton, cilium axoneme (By similarity)

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005856cytoskeleton IEA--
    GO:0005930axoneme ISS--

    DRC1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DRC1
    Interactions:

        Search GeneGlobe Interaction Network for DRC1

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0060285cilium-dependent cell motility IMP--
    GO:0070286axonemal dynein complex assembly IMP--
    GO:0071973bacterial-type flagellum-dependent cell motility IMP--

    DRC1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for DRC1 gene: 
    NM_145038.3  

    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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    Block miRNA regulation of human, mouse, rat DRC1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate DRC1
    SwitchGear 3'UTR luciferase reporter plasmidDRC1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DRC1
    Clone
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    OriGene ORF clones in mouse, rat for DRC1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript Custom all cDNA clones Services for DRC1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DRC1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat DRC1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for DRC1
    Search Pre-validated RT2 qPCR Primer Assays in human, mouse, rat DRC1
      QuantiTect SYBR Green Assays in human, mouse, rat DRC1
      QuantiFast Probe-based Assays in human, mouse, rat DRC1

    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 

    Selected AceView cDNA sequences (see all 26):

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

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DRC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    DRC1 Expression
    About this image

    DRC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DRC1 Protein Expression

    Genevestigator expression for DRC1

    SOURCE GeneReport for Unigene cluster: Hs.393714
        Custom PCR Arrays for DRC1
    Primer
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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for DRC1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc1645
    Drc11
    coiled-coil domain containing 1645
    dynein regulatory complex subunit 11
    79.21(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 63.47(n)
    57.22(a)
      422009  XM_420016.4  XP_420016.3 
    lizard
    (Anolis carolinensis)
    Reptilia DRC16
    dynein regulatory complex subunit 1 homolog (Chlam...
    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 drc11 dynein regulatory complex subunit 1 homolog (Chlamydomonas) 59.23(n)
    49.08(a)
      100034551  NM_001127468.1  NP_001120940.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG109581 CG10958 44.64(n)
    29.57(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)
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      --

    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DRC1 (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: --
    Human Gene Mutation Database (HGMD): DRC1
    Site Specific Mutation Identification with 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.)
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    OMIM gene information: 615288   
    OMIM disorders: 615294  
    UniProtKB/Swiss-Prot: DRC1_HUMAN, Q96MC2
  • Ciliary dyskinesia, primary, 21 (CILD21) [MIM:615294]: 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. Patients may exhibit randomization of left-right body asymmetry and situs
    inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs
    inversus is referred to as Kartagener syndrome. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 4 diseases for DRC1:    About MalaCards
    ciliary dyskinesia, primary, 21    ciliary dyskinesia, primary, 19    multiple myeloma    myeloma


    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)
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    PubMed articles for DRC1 gene integrated from 10 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. (Nat. Genet. 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. (Nature 2005)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. (PubMed id 23319000)1 Luykx J.J....Ophoff R.A. (Mol. Psychiatry 2013)
    5. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 92749 HGNC: 24245 AceView: MGC16372 Ensembl:ENSG00000157856 euGenes: HUgn92749
    ECgene: DRC1 H-InvDB: DRC1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    Patent Information for DRC1 gene:
    Search GeneIP for patents involving DRC1

    GeneCards and IP:
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