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CCDC113 Gene

protein-coding   GIFtS: 45
GCID: GC16P058283

Coiled-Coil Domain Containing 113

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disease database 

(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 1131 2
Coiled-Coil Domain-Containing Protein 1132

External Ids:    HGNC: 250021   Entrez Gene: 290702   Ensembl: ENSG000001030217   UniProtKB: Q9H0I33   

Export aliases for CCDC113 gene to outside databases

Previous GC identifers: GC16P056842 GC16P044152


(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 CCDC113 Gene:
CCDC113 (coiled-coil domain containing 113) is a protein-coding gene.

Gene Wiki entry for CCDC113 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NC_018927.2  NT_010498.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the CCDC113 gene promoter:
         ATF-2   FOXD1   LCR-F1   C/EBPalpha   Max   AREB6   CBF-A   CBF(2)   c-Myc   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCDC113 promoter sequence
   Search Chromatin IP Primers for CCDC113

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCDC113


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

Entrez Gene cytogenetic band: 16q21   Ensembl cytogenetic band:  16q21   HGNC cytogenetic band: 16q21

CCDC113 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC113 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P058283:  view genomic region     (about GC identifiers)

Start:
58,265,061 bp from pter      End:
58,317,740 bp from pter
Size:
52,680 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CC113_HUMAN, Q9H0I3 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 113  
Size: 377 amino acids; 44220 Da
Sequence caution: Sequence=AAF29037.1; Type=Frameshift; Positions=187;
Secondary accessions: B2RAQ7 B4DR20 Q9NZX2
Alternative splicing: 2 isoforms:  Q9H0I3-1   Q9H0I3-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CCDC113: NX_Q9H0I3

Explore proteomics data for CCDC113 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CCDC113 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001135774.1  NP_054876.2  

    ENSEMBL proteins: 
     ENSP00000455923   ENSP00000402588   ENSP00000219299   ENSP00000454618  

    CCDC113 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for CCDC113

     
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    antibodies-online proteins for CCDC113 (2 products) 

     
    Search antibodies-online for peptides for CCDC113

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    antibodies-online antibodies for CCDC113 (7 products) 

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    Cloud-Clone Corp. ELISAs for CCDC113
    Cloud-Clone Corp. CLIAs for CCDC113
    Search eBioscience for ELISAs for CCDC113 
    antibodies-online kits for CCDC113 (18 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR025254 DUF4201

    Graphical View of Domain Structure for InterPro Entry Q9H0I3

    ProtoNet protein and cluster: Q9H0I3


    Find genes that share domains with CCDC113           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for CCDC113

    miRNA
    Products:
        
    miRTarBase miRNAs that target CCDC113:
    hsa-mir-32-5p (MIRT028268), hsa-let-7e-5p (MIRT051698), hsa-mir-22-5p (MIRT038959)

    Block miRNA regulation of human, mouse, rat CCDC113 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CCDC113 (see all 28):
    hsa-miR-576-3p hsa-miR-3673 hsa-miR-146b-3p hsa-miR-25 hsa-miR-570 hsa-miR-149 hsa-miR-1909* hsa-miR-3119
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    Predesigned siRNA for gene silencing in human, mouse, rat CCDC113

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    GenScript: all cDNA clones in your preferred vector (see all 2): CCDC113 (NM_014157)
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CCDC113
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC113

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    (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
    cytosol4
    nucleus4
    endoplasmic reticulum1
    mitochondrion1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0043234protein complex IDA--

    Find genes that share ontologies with CCDC113           About GenesLikeMe


    (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 CCDC113
    Interactions:

        Search GeneGlobe Interaction Network for CCDC113

    4 Interacting proteins for CCDC113 (Q9H0I33) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GIT1Q9Y2X73I2D: score=4 
    IMMTQ168913I2D: score=4 
    PFN2P350803I2D: score=4 
    HAP1P542573I2D: score=3 
    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 CCDC113 (CC113)



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CCDC113 gene (2 alternative transcripts): 
    NM_001142302.1  NM_014157.3  

    Unigene Cluster for CCDC113:

    Coiled-coil domain containing 113
    Hs.11614  [show with all ESTs]
    Unigene Representative Sequence: NM_014157
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000569374 ENST00000443128(uc010vid.2) ENST00000219299(uc002ene.3)
    ENST00000561517 ENST00000566498
    miRNA
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    Block miRNA regulation of human, mouse, rat CCDC113 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CCDC113 (see all 28):
    hsa-miR-576-3p hsa-miR-3673 hsa-miR-146b-3p hsa-miR-25 hsa-miR-570 hsa-miR-149 hsa-miR-1909* hsa-miR-3119
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CCDC113
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    OriGene clones in human, mouse for CCDC113 (see all 11)
    OriGene ORF clones in mouse, rat for CCDC113
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): CCDC113 (NM_014157)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CCDC113
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC113
    Primer
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    OriGene qPCR primer pairs and template standards for CCDC113
    OriGene qSTAR qPCR primer pairs in human, mouse for CCDC113
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CCDC113
      QuantiTect SYBR Green Assays in human, mouse, rat CCDC113
      QuantiFast Probe-based Assays in human, mouse, rat CCDC113

    Additional mRNA sequence: 

    AF161550.1 AK027208.1 AK299066.1 AK314300.1 AL136785.1 BC126445.1 BC126447.1 CR533506.1 

    5 DOTS entries:

    DT.95363861  DT.120687755  DT.92424686  DT.40294956  DT.120687760 

    Selected AceView cDNA sequences (see all 52):

    NM_014157 AL136785 BM977820 CR533506 BG054922 BU688096 AI188004 BE311790 
    CB241680 AW021459 BF594246 BF438667 CB305403 AI041361 N34967 AF150261 
    BU623305 AA430189 BF345970 AK027208 BG198159 BU942894 N44041 CA430651 

    GeneLoc Exon Structure


    (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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    CCDC113 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTTGCAATA
    CCDC113 Expression
    About this image


    CCDC113 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Heart (Cardiovascular System)
             Atrioventricular Canal Cells Atrioventricular Canal
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
    CCDC113 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CCDC113 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.11614
        Custom PCR Arrays for CCDC113
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for CCDC113
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC113

    (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 chordates.

    Orthologs for CCDC113 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc1131 , 5 coiled-coil domain containing 1131, 5 81.79(n)1
    77.98(a)1
      8 (47.12 cM)5
    2446081  NM_172914.21  NP_766502.11 
     955341005 
    chicken
    (Gallus gallus)
    Aves CCDC1131 coiled-coil domain containing 113 57.85(n)
    42.82(a)
      768642  XM_004944022.1  XP_004944079.1 
    lizard
    (Anolis carolinensis)
    Reptilia CCDC1136
    coiled-coil domain containing 113
    51(a)
    1 ↔ 1
    AAWZ02039503(633-7222)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.128362 Transcribed sequence with weak similarity to protein more 75.76(n)    BX733584.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BM316613.12   -- 73.15(n)    BM316613.1 


    ENSEMBL Gene Tree for CCDC113 (if available)
    TreeFam Gene Tree for CCDC113 (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 CCDC113 (see all 739)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1814683371,2
    --58281869(+) CCACAC/TCACCA 2 -- us2k10--------
    rs1860452091,2
    --58281970(+) TGGCTG/TCCAAG 2 -- us2k10--------
    rs1901647311,2
    --58282169(+) GCCCAA/GTGCTG 2 -- us2k10--------
    rs118603261,2
    C,F,H--58282194(+) atttgC/Taatgg 2 -- us2k124Minor allele frequency- T:0.22NS EA NA WA CSA 2766
    rs27317621,2
    C,H--58282220(-) ttaagT/Caggac 2 -- us2k114Minor allele frequency- C:0.01NA WA CSA EA 377
    rs1491991801,2
    --58282342(+) GACACA/GTAATT 2 -- us2k10--------
    rs1113457061,2
    C,F--58282361(+) TGGATC/TGTATG 2 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs1812036581,2
    --58282494(+) AGCCCA/GGTTGG 2 -- us2k10--------
    rs1392105491,2
    --58282638(+) TATTGC/TTAAAT 2 -- us2k10--------
    rs1412527701,2
    --58282639(+) ATTGCG/TAAATG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for CCDC113 (58265061 - 58317740 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for CCDC113:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2714548CNV Deletion23290073
    esv2672427CNV Deletion23128226
    esv6424CNV Loss19470904

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CCDC113
    DNA2.0 Custom Variant and Variant Library Synthesis for CCDC113

    (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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    Find genes that share disorders with CCDC113           About GenesLikeMe

    Genetic Association Database (GAD): CCDC113

    Export disorders for CCDC113 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 CCDC113 gene, integrated from 10 sources (see all 14):
    (articles sorted by number of sources associating them with CCDC113)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2, 3 Wiemann S.... Poustka A. (Genome Res. 2001)
    2. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2, 3 Zhang Q.-H.... Chen Z. (Genome Res. 2000)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. A Y2H-seq approach defines the human protein methyltransferase interactome. (PubMed id 23455924)1 Weimann M.... Stelzl U. (Nat. Methods 2013)
    5. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)
    6. Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study. (PubMed id 17903294)4 Yang Q....O'Donnell C.J. (BMC Med. Genet. 2007)
    7. The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (Nucleic Acids Res. 2006)
    8. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (Cell 2005)
    9. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)2 Martin J.... Pennacchio L.A. (Nature 2004)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (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: 29070 HGNC: 25002 AceView: HSPC065 Ensembl:ENSG00000103021 euGenes: HUgn29070
    ECgene: CCDC113 H-InvDB: CCDC113

    (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 CCDC113 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 CCDC113 gene:
    Search GeneIP for patents involving CCDC113

    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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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 genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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