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

CCDC43 Gene

protein-coding   GIFtS: 40
GCID: GC17M042754

Coiled-Coil Domain Containing 43

  Search for CCDC43
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
Coiled-Coil Domain Containing 431 2
Coiled-Coil Domain-Containing Protein 432

External Ids:    HGNC: 264721   Entrez Gene: 1248082   Ensembl: ENSG000001803297   UniProtKB: Q96MW13   

Export aliases for CCDC43 gene to outside databases

Previous GC identifers: GC17M040112 GC17M038519


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

GeneCards Summary for CCDC43 Gene: 
CCDC43 (coiled-coil domain containing 43) is a protein-coding 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_000017.10  NT_010783.15  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CCDC43 gene promoter:
         HOXA9B   HOXA9   p300   HSF1 (long)   E47   Meis-1b   FOXL1   HSF1short   TGIF   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCDC43 promoter sequence
   Search SABiosciences Chromatin IP Primers for CCDC43

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCDC43


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

Entrez Gene cytogenetic band: 17q21.31   Ensembl cytogenetic band:  17q21.31   HGNC cytogenetic band: 17q21.31

CCDC43 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC43 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M042754:  view genomic region     (about GC identifiers)

Start:
42,750,437 bp from pter      End:
42,767,165 bp from pter
Size:
16,729 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: CCD43_HUMAN, Q96MW1 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 43  
Size: 224 amino acids; 25248 Da
Secondary accessions: C9JVK9
Alternative splicing: 2 isoforms:  Q96MW1-1   Q96MW1-2   

Explore the universe of human proteins at neXtProt for CCDC43: NX_Q96MW1

Explore proteomics data for CCDC43 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96MW1

  • CCDC43 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CCDC43 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001092695.1  NP_653210.2  

    ENSEMBL proteins: 
     ENSP00000468079   ENSP00000400845   ENSP00000323782   ENSP00000467630  

    Human Recombinant Protein Products for CCDC43: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: Q96MW1

    UniProtKB/Swiss-Prot: CCD43_HUMAN, Q96MW1
    Similarity: Belongs to the CCDC43 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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CCDC43 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CCDC43

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CCDC43 
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    SwitchGear 3'UTR luciferase reporter plasmidCCDC43 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC43


    (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 CCDC43

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for CCDC43 (Q96MW13 ENSP000003237824) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SCN10AQ9Y5Y93I2D: score=1 
    TINF2ENSP000002674154STRING: ENSP00000267415
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    (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 CCDC43 (CCD43)

    Search CenterWatch for drugs/clinical trials and news about CCDC43 / CCD43

    (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 CCDC43 gene (2 alternative transcripts): 
    NM_001099225.1  NM_144609.2  

    Unigene Cluster for CCDC43:

    Coiled-coil domain containing 43
    Hs.579115  [show with all ESTs]
    Unigene Representative Sequence: NM_144609
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000588687 ENST00000457422(uc010czw.1) ENST00000315286(uc021tye.1 uc002ihc.2)
    ENST00000588210 ENST00000592333
    miRNA
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    8/21 QIAGEN miScript miRNA Assays for microRNAs that regulate CCDC43 (see all 21):
    hsa-miR-30c hsa-miR-30d hsa-miR-548m hsa-miR-30a hsa-miR-9 hsa-miR-199b-5p hsa-miR-591 hsa-miR-450b-5p
    SwitchGear 3'UTR luciferase reporter plasmidCCDC43 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CCDC43
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CCDC43
    Clone
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    OriGene clones in human, mouse for CCDC43 (see all 13)
    OriGene ORF clones in mouse, rat for CCDC43
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): CCDC43 (NM_144609)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CCDC43
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC43
    Sirion Biotech Customized lentivirus for stable overexpression of CCDC43 
                         Customized lentivirus expression plasmids for stable overexpression of CCDC43 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for CCDC43
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CCDC43
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CCDC43
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CCDC43

    Additional mRNA sequence: 

    AK056357.1 AK098464.1 AL833590.1 BC023298.1 BC047776.2 BX648868.1 

    5 DOTS entries:

    DT.443157  DT.100813441  DT.426362  DT.99999565  DT.95267955 

    24/137 AceView cDNA sequences (see all 137):

    BC023298 BM843452 BE408705 AI073854 BM351826 CF129680 BC047776 AI687141 
    AW438632 BQ945564 BM677653 AI472155 BF842785 BU679979 BE504863 BQ051161 
    BM352137 AW074675 CK822286 AW450917 BQ002285 BQ775811 BM474362 NM_144609 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for CCDC43    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b
    SP1:                          -     -                     
    SP2:                          -                           
    SP3:                                                      


    ECgene alternative splicing isoforms for CCDC43

    (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

    CCDC43 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTACCTCTTC
    CCDC43 Expression
    About this image


    See CCDC43 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CCDC43

    SOURCE GeneReport for Unigene cluster: Hs.579115
        SABiosciences Custom PCR Arrays for CCDC43
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for CCDC43
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CCDC43
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC43

    (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 CCDC43 gene from 6/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc431 , 5 coiled-coil domain containing 431, 5 86.34(n)1
    90.09(a)1
      11 (66.48 cM)5
    527151  NM_025918.31  NP_080194.11 
     1026846865 
    chicken
    (Gallus gallus)
    Aves CCDC431 coiled-coil domain containing 43 74.69(n)
    75(a)
      419971  NM_001007884.1  NP_001007885.1 
    lizard
    (Anolis carolinensis)
    Reptilia CCDC436
    coiled-coil domain containing 43
    65(a)
    1 ↔ 1
    6(63721374-63726111)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ066912.12   -- 75.72(n)    BJ066912.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC057502.12   -- 77.94(n)   393631  BC057502.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG95861 CG9586 45.26(n)
    41.05(a)
      34241  NM_135433.3  NP_609277.1 


    ENSEMBL Gene Tree for CCDC43 (if available)
    TreeFam Gene Tree for CCDC43 (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

    10/236 SNPs in CCDC43 are shown (see all 236)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1411826131,2
    --42754416(+) GGGACC/TGTGGA 2 -- ds50010--------
    rs107079201,2
    C--42754554(+) TAATA-/GTAAGG 2 -- ds50011Minor allele frequency- G:0.00CSA 2
    rs1448460811,2
    --42754581(+) CCTGAC/TGTTCC 2 -- ds50010--------
    rs1829861881,2
    --42754599(+) ATGCTA/CATCTT 2 -- ds50010--------
    rs124506541,2
    C,F,A,H--42754777(+) GGGTAC/TGTAGA 2 -- ds500131Minor allele frequency- T:0.37NA NS EA 3114
    rs1884577771,2
    --42754868(+) CCACAC/GTTATA 2 -- ut310--------
    rs1494807201,2
    C--42754916(+) ACCAT-/GTTTTT 2 -- ut310--------
    rs1928413361,2
    --42755161(+) CCCTGA/GTATAA 2 -- ut310--------
    rs1512920191,2
    --42755177(+) CTACTC/TTGTCT 2 -- ut310--------
    rs1847961811,2
    --42755399(+) TAGCAG/TAAATT 2 -- ut310--------

    HapMap Linkage Disequilibrium report for CCDC43 (42750437 - 42767165 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for CCDC43:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv908287CNV Loss21882294
    nsv112452CNV Loss16902084
    nsv908286CNV Loss21882294
    nsv833456CNV Gain+Loss17160897

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CCDC43
    DNA2.0 Custom Variant and Variant Library Synthesis for CCDC43

    (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
      --

    (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 CCDC43 gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with CCDC43)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    3. A catalogue of putative HIV-1 protease host cell subst rates. (PubMed id 22944692)1 Impens F....Gevaert K. (2012)
    4. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    6. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    7. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    8. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    9. Genome-wide YFP fluorescence complementation screen id entifies new regulators for telomere signaling in human cells. (PubMed id 21044950)1 Lee O.H....Songyang Z. (2011)
    10. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)

    (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: 124808 HGNC: 26472 AceView: FLJ31795 Ensembl:ENSG00000180329 euGenes: HUgn124808
    ECgene: CCDC43 H-InvDB: CCDC43

    (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 CCDC43 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 CCDC43 gene:
    Search GeneIP for patents involving CCDC43

    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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