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CCDC43 Gene

protein-coding   GIFtS: 44
GCID: GC17M042754

Coiled-Coil Domain Containing 43

  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
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for CCDC43 Gene:
CCDC43 (coiled-coil domain containing 43) is a protein-coding gene. Diseases associated with CCDC43 include malaria, and hiv-1.


(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_000017.11  NC_018928.2  NT_010783.16  
Regulatory elements:
   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 Chromatin IP Primers for CCDC43

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, Cloud-Clone Corp, and/or others.)
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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: 

  • Ubiquitination2 at Lys162
  • Modification sites at PhosphoSitePlus

  • See CCDC43 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000468079   ENSP00000400845   ENSP00000323782   ENSP00000467630  

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    Novus Biologicals CCDC43 Protein
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    Cloud-Clone Corp. ELISAs for CCDC43
    Cloud-Clone Corp. CLIAs for CCDC43


    (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: 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,
    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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    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CCDC43
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CCDC43

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CCDC43
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CCDC43

    miRNA
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    miRTarBase miRNAs that target CCDC43:
    hsa-mir-26a-5p (MIRT050168), hsa-mir-877-3p (MIRT036859), hsa-mir-1914-5p (MIRT035786), hsa-mir-145-5p (MIRT021517)

    Block miRNA regulation of human, mouse, rat CCDC43 using miScript Target Protectors
    Selected qRT-PCR 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
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    Predesigned siRNA for gene silencing in human, mouse, rat CCDC43

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    Clone
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    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)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CCDC43
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC43

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC43


    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    extracellular1
    mitochondrion1

    (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 CCDC43
    Interactions:

        Search GeneGlobe Interaction Network 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, 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 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,
    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 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
    Products:
         
    Block miRNA regulation of human, mouse, rat CCDC43 using miScript Target Protectors
    Selected qRT-PCR 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
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    OriGene RNAi products in human, mouse, rat for CCDC43
    Predesigned siRNA for gene silencing in human, mouse, rat CCDC43
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    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
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for CCDC43
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CCDC43
      QuantiTect SYBR Green Assays in human, mouse, rat CCDC43
      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 

    Selected AceView cDNA sequences (see all 137):

    CK822286 BU679979 BE646201 BM352137 BC023298 BQ002285 AW074675 BM351826 
    W58250 NM_144609 BU685607 BC047776 BE504863 BF059575 BE408705 BM843452 
    AI687141 BX648868 AA356665 BQ051161 CF129680 BM474362 BQ945564 AW438632 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to 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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    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

    CCDC43 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CCDC43 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.579115
        Custom PCR Arrays for CCDC43
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for CCDC43
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CCDC43
    QuantiTect SYBR Green Assays in human, mouse, rat CCDC43
    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for CCDC43 gene from Selected species (see all 16)    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 85.74(n)1
    89.19(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 73.77(n)
    73.15(a)
      419971  NM_001007884.1  NP_001007885.1 
    lizard
    (Anolis carolinensis)
    Reptilia CCDC436
    coiled-coil domain containing 43
    66(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 43.76(n)
    36.41(a)
      34241  NM_001273350.1  NP_001260279.1 


    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)
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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 CCDC43 (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

    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    2 diseases for CCDC43:    
    About MalaCards
    malaria    hiv-1


    CCDC43 for disorders           About GeneDecksing


    Export disorders for CCDC43 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 CCDC43 gene, integrated from 10 sources (see all 16):
    (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. (Nat. Genet. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    3. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    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. (Nat. Cell Biol. 2012)
    5. A catalogue of putative HIV-1 protease host cell substrates. (PubMed id 22944692)1 Impens F....Gevaert K. (Biol. Chem. 2012)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    7. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    8. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    9. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    10. Genome-wide YFP fluorescence complementation screen identifies new regulators for telomere signaling in human cells. (PubMed id 21044950)1 Lee O.H....Songyang Z. (amp 2011)

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

    (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)
    About This Section

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    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.)
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    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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