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

DCDC1 Gene

protein-coding   GIFtS: 42
GCID: GC11M030851

Doublecortin Domain Containing 1

  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
Doublecortin Domain Containing 11 2
Doublecortin Domain-Containing Protein 12

External Ids:    HGNC: 206251   Entrez Gene: 3410192   Ensembl: ENSG000001709597   OMIM: 6080625   UniProtKB: P598943   

Export aliases for DCDC1 gene to outside databases

Previous GC identifers: GC00U900980 GC11M031248 GC11M031240 GC11M030964


(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 DCDC1 Gene:
This gene encodes a member of the doublecortin family. The protein encoded by this gene is a hydrophilic,
intracellular protein. It contains a single doublecortin domain and is unable to bind microtubules and to
regulate microtubule polymerization. This gene is mainly expressed in adult testis. It does not have a mouse
homolog. (provided by RefSeq, Sep 2010)

GeneCards Summary for DCDC1 Gene: 
DCDC1 (doublecortin domain containing 1) is a protein-coding gene. Diseases associated with DCDC1 include aniridia, and lissencephaly.




(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_000011.9  NC_018922.2  NT_009237.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DCDC1 gene promoter:
         Sox5   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   FOXL1   POU2F1   POU2F1a   Pax-4a   TGIF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDCDC1 promoter sequence
   Search SABiosciences Chromatin IP Primers for DCDC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DCDC1


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

Entrez Gene cytogenetic band: 11p13   Ensembl cytogenetic band:  11p13   HGNC cytogenetic band: 11p14.1

DCDC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DCDC1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M030851:  view genomic region     (about GC identifiers)

Start:
30,851,916 bp from pter      End:
31,391,357 bp from pter
Size:
539,442 bases      Orientation:
minus 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: DCDC1_HUMAN, P59894 (See protein sequence)
Recommended Name: Doublecortin domain-containing protein 1  
Size: 354 amino acids; 39859 Da
Secondary accessions: A6PVL6

Explore the universe of human proteins at neXtProt for DCDC1: NX_P59894

Explore proteomics data for DCDC1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P59894

  • DCDC1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DCDC1 Protein Expression
    REFSEQ proteins: NP_861523.2  
    ENSEMBL proteins: 
     ENSP00000404672   ENSP00000306898   ENSP00000472625   ENSP00000343496   ENSP00000389792  
     ENSP00000385936   ENSP00000341700  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR003533 Doublecortin_dom

    Graphical View of Domain Structure for InterPro Entry P59894

    ProtoNet protein and cluster: P59894

    UniProtKB/Swiss-Prot: DCDC1_HUMAN, P59894
    Similarity: Contains 1 doublecortin domain


    DCDC1 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

    Animal Models:
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    (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 DCDC1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0035556intracellular signal transduction IEA--

    DCDC1 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 DCDC1

    Search CenterWatch for drugs/clinical trials and news about DCDC1

    (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,
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    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 DCDC1 gene: 
    NM_181807.3  

    Unigene Cluster for DCDC1:

    Doublecortin domain containing 1
    Hs.592000  [show with all ESTs]
    Unigene Representative Sequence: NM_181807
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000444572(uc001mss.1) ENST00000303697(uc009yjj.2) ENST00000483396(uc021qfk.1 uc009yjk.1)
    ENST00000597505 ENST00000429306 ENST00000437348(uc009yjl.1) ENST00000342355(uc001msu.2)
    ENST00000534722 ENST00000534021 ENST00000452803(uc001msv.3) ENST00000406071
    ENST00000339794
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    Inhib. RNA
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    Additional mRNA sequence: AY247970.1 

    3 DOTS entries:

    DT.40126928  DT.40125715  DT.101955217 

    24/29 AceView cDNA sequences (see all 29):

    BX117620 NM_198462 AI056882 AA833549 BX097338 AI040110 AA846321 AW340116 
    AK128035 AA005095 AB040926 BX647348 AK126066 AA004887 BX116244 BF957112 
    AA954541 AI684432 AI150472 NM_181807 AY247970 AI243215 AA680369 T55429 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for DCDC1    About this scheme

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


    ECgene alternative splicing isoforms for DCDC1

    (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

    DCDC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGAAGCATT
    DCDC1 Expression
    About this image


    See DCDC1 Protein Expression from SPIRE MOPED and PaxDB
    SOURCE GeneReport for Unigene cluster: Hs.592000

    UniProtKB/Swiss-Prot: DCDC1_HUMAN, P59894
    Tissue specificity: Highly expressed in testis. Lower levels of expression in lung, kidney, and pancreas. Higher
    expression in fetal brain than in adult brain

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    In Situ
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    (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 chordates.

    Orthologs for DCDC1 gene from 2/5 species (see all 5)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    dog
    (Canis familiaris)
    Mammalia DCDC11 doublecortin domain containing 1 90.75(n)
    85.27(a)
      483443  XM_540561.3  XP_540561.3 
    lizard
    (Anolis carolinensis)
    Reptilia DCDC16
    Uncharacterized protein
    58(a)
    1 ↔ 1
    1(60256746-60278336)


    ENSEMBL Gene Tree for DCDC1 (if available)
    TreeFam Gene Tree for DCDC1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DCDC1 gene
    1 SIMAP similar gene for DCDC1 using alignment to 1 protein entry:     DCDC1_HUMAN:
    DCDC5

    DCDC1 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

    10/1634 SNPs in DCDC1 are shown (see all 1634)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1459380021,2
    C--31283707(+) TACTGC/GAGAGG 1 -- ds50010--------
    rs71172861,2
    C,F,A,H--31283810(+) CCTTGT/ACTCAG 1 -- ds50019Minor allele frequency- A:0.47NA WA CSA EA 254
    rs29563801,2
    C--31283811(+) cttgtC/Ttcagg 1 -- ds50012Minor allele frequency- T:0.00NA 4
    rs114163721,2
    C--31283816(+) AAAAA-/ATTGTC 1 -- ds50011Minor allele frequency- A:0.50NA 2
    rs1814855501,2
    --31284027(+) ATTTTC/GTGTAT 1 -- ds50010--------
    rs1864979361,2
    --31284071(+) CTAATC/TTGTGC 1 -- ds50010--------
    rs756179691,2
    C,F--31284218(+) GATAAC/TTTTCA 1 -- ut311Minor allele frequency- T:0.05WA 118
    rs789439701,2
    --31284295(+) AATCAC/TTTGAT 1 -- ut310--------
    rs1895641671,2
    --31284331(+) AAAGAA/CGTTCA 1 -- ut310--------
    rs1818780161,2
    C--31284595(+) TGAAGC/TATCAC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for DCDC1 (30851916 - 31101916 bp, first 250kb of DCDC1)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for DCDC1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2658686CNV Deletion23128226
    nsv897177CNV Loss21882294
    nsv467784CNV Loss19166990
    nsv529004CNV Loss19592680
    nsv7725CNV Loss18451855
    nsv508621CNV Loss20534489
    nsv897178CNV Loss21882294
    esv2751022CNV Loss17911159
    nsv832106CNV Gain17160897

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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: 608062    OMIM disorders: --

    2 diseases for DCDC1:    About MalaCards
    aniridia    lissencephaly

    1 disease from the University of Copenhagen DISEASES database for DCDC1:
    Aniridia

    DCDC1 for disorders           About GeneDecksing


    Export disorders for DCDC1 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 DCDC1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with DCDC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a novel human doublecortin-domain-containing gene (DCDC1) expressed mainly in testis. (PubMed id 12820024)1, 2, 3, 9 Zeng L....Mao Y. (2003)
    2. A 556 kb deletion in the downstream region of the PAX 6 gene causes familial aniridia and other eye anomalies in a Chinese family. (PubMed id 21321669)1 Cheng F....Yuan H. (2011)
    3. The doublecortin gene family and disorders of neurona l structure. (PubMed id 20236041)1 Dijkmans T.F....Vreugdenhil E. (2010)
    4. Twenty bone-mineral-density loci identified by large- scale meta-analysis of genome-wide association studies. (PubMed id 19801982)1 Rivadeneira F....Uitterlinden A.G. (2009)
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    6. The evolving doublecortin (DCX) superfamily. (PubMed id 16869982)1 Reiner O....Bergmann S. (2006)
    7. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)2 Taylor T.D....Sakaki Y. (2006)

    (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: 341019 HGNC: 20625 AceView: DCDC1 Ensembl:ENSG00000170959 euGenes: HUgn341019
    ECgene: DCDC1 H-InvDB: DCDC1

    (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 DCDC1 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 DCDC1 gene:
    Search GeneIP for patents involving DCDC1

    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

     
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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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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
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    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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