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CCDC117 Gene

protein-coding   GIFtS: 42
GCID: GC22P029168

Coiled-Coil Domain Containing 117

  Search for CCDC117
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 1171 2
Coiled-Coil Domain-Containing Protein 1172
dJ366L4.12

External Ids:    HGNC: 265991   Entrez Gene: 1502752   Ensembl: ENSG000001598737   UniProtKB: Q8IWD43   

Export aliases for CCDC117 gene to outside databases

Previous GC identifers: GC22P027498 GC22P012133


(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 CCDC117 Gene:
CCDC117 (coiled-coil domain containing 117) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000022.10  NC_018933.2  NT_011520.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the CCDC117 gene promoter:
         NF-1   NF-1/L   AML1a   NF-kappaB   HNF-1A   C/EBPalpha   NF-kappaB2   HNF-1   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCDC117 promoter sequence
   Search Chromatin IP Primers for CCDC117

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCDC117


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

Entrez Gene cytogenetic band: 22q12.1   Ensembl cytogenetic band:  22q12.1   HGNC cytogenetic band: 22q12.1

CCDC117 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC117 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P029168:  view genomic region     (about GC identifiers)

Start:
29,168,662 bp from pter      End:
29,185,283 bp from pter
Size:
16,622 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: CC117_HUMAN, Q8IWD4 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 117  
Size: 279 amino acids; 30541 Da
Secondary accessions: A8K0F1 Q6ICA7 Q8N278
Alternative splicing: 2 isoforms:  Q8IWD4-1   Q8IWD4-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CCDC117: NX_Q8IWD4

Explore proteomics data for CCDC117 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CCDC117 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001271192.1  NP_001271193.1  NP_001271194.1  NP_775781.1  

    ENSEMBL proteins: 
     ENSP00000249064   ENSP00000411668   ENSP00000399536   ENSP00000415728   ENSP00000389478  
     ENSP00000387827   ENSP00000399363  

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    (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: Q8IWD4


    (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, 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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    Phenotypes:
         1 GenomeRNAi human phenotype for CCDC117:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CCDC117
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    hsa-mir-30c-5p (MIRT047933), hsa-mir-877-3p (MIRT037035), hsa-mir-128-3p (MIRT045862)

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    Selected qRT-PCR Assays for microRNAs that regulate CCDC117 (see all 69):
    hsa-miR-548j hsa-miR-323-3p hsa-miR-640 hsa-miR-1260b hsa-miR-578 hsa-miR-30d hsa-miR-371-5p hsa-miR-10b*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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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
    nucleus3
    cytosol2
    cytoskeleton1

    (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 CCDC117
    Interactions:

        Search GeneGlobe Interaction Network for CCDC117

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

    2 Interacting proteins for CCDC117 (Q8IWD43 ENSP000002490644) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSP90AA1P079003, ENSP000003351534I2D: score=1 STRING: ENSP00000335153
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    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 CCDC117 (CC117)



    (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 CCDC117 gene (4 alternative transcripts): 
    NM_001284263.1  NM_001284264.1  NM_001284265.1  NM_173510.3  

    Unigene Cluster for CCDC117:

    Coiled-coil domain containing 117
    Hs.406460  [show with all ESTs]
    Unigene Representative Sequence: NM_173510
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000249064(uc003aeb.3 uc011aki.2 uc011akj.2 uc011akk.2)
    ENST00000453543 ENST00000444523 ENST00000432510 ENST00000448492 ENST00000421503
    ENST00000443309
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate CCDC117 (see all 69):
    hsa-miR-548j hsa-miR-323-3p hsa-miR-640 hsa-miR-1260b hsa-miR-578 hsa-miR-30d hsa-miR-371-5p hsa-miR-10b*
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    Inhib. RNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat CCDC117
      QuantiFast Probe-based Assays in human, mouse, rat CCDC117

    Additional mRNA sequence: 

    AK091133.1 AK092636.1 AK127794.1 AK289516.1 AK295140.1 AK302798.1 AK302925.1 BC040488.1 
    BC053874.1 BC065549.1 CR456461.1 

    9 DOTS entries:

    DT.213184  DT.100755200  DT.120629795  DT.100755199  DT.100755198  DT.120629812  DT.121616719  DT.65287234 
    DT.99934353 

    Selected AceView cDNA sequences (see all 170):

    AA426139 CB850689 BX478425 BU506786 Z41665 AA741277 BM829216 AI223864 
    AA453804 AA313750 AA969156 AV650620 AI800697 AA418230 BF795360 AI093952 
    BM846250 AA418083 AW999310 AI417141 CD643560 CR456461 AA424919 AA422115 

    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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    CCDC117 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGCTGCTGG
    CCDC117 Expression
    About this image

    CCDC117 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CCDC117 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.406460
        Custom PCR Arrays for CCDC117
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC117

    (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 CCDC117 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc1171 , 5 coiled-coil domain containing 1171, 5 82.31(n)1
    79.06(a)1
      11 (3.61 cM)5
    1044791  NM_134033.21  NP_598794.21 
     55288875 
    chicken
    (Gallus gallus)
    Aves CCDC1171 coiled-coil domain containing 117 68.15(n)
    60.71(a)
      416917  XM_003642208.2  XP_003642256.2 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ccdc1171 coiled-coil domain containing 117 52.45(n)
    39.09(a)
      100490526  XM_004910497.1  XP_004910554.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CCDC1176
    coiled-coil domain containing 117
    24(a)
    1 ↔ 1
    5(28431518-28439987) ENSDARG00000091872


    ENSEMBL Gene Tree for CCDC117 (if available)
    TreeFam Gene Tree for CCDC117 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CCDC117 gene

    Find genes that share paralogs with CCDC117           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for CCDC117
    PGOHUM00000259005


    (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 CCDC117 (see all 481)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs744934331,2
    C--29166662(+) CACCTG/TGCCGA 1 -- us2k10--------
    rs1836634401,2
    --29166773(+) GTTCAC/TGCCAT 1 -- us2k10--------
    rs713168611,2
    C--29166780(+) CCATTCTC/-CTGCC 1 -- us2k11Minor allele frequency- -:0.50NA 2
    rs60058691,2
    C,F,A--29166830(+) ACCACG/CCCCGG 1 -- us2k15Minor allele frequency- C:0.33NA WA CSA 9
    rs123300711,2
    C--29166856(+) tatttG/Atttat 1 -- us2k1 tfbs31Minor allele frequency- A:0.50WA 2
    rs1891574971,2
    --29166907(+) TCTGTG/TGCCCA 1 -- us2k10--------
    rs1924935801,2
    --29166917(+) AGGCTA/GGAGTG 1 -- us2k10--------
    rs1857516391,2
    --29167009(+) GACTAC/TAGGCG 1 -- us2k10--------
    rs1902143851,2
    --29167012(+) TACAGG/TCGCCC 1 -- us2k10--------
    rs57527941,2
    C,F--29167077(+) GTTAGC/TCAGGA 1 -- us2k14Minor allele frequency- T:0.38NA 8

    HapMap Linkage Disequilibrium report for CCDC117 (29168662 - 29185283 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for CCDC117:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2307652CNV Deletion18987734
    esv2496014CNV Deletion19546169
    esv4499CNV Deletion18987735
    esv1361730CNV Deletion17803354
    esv2430624CNV Deletion19546169
    esv2724119CNV Deletion23290073
    nsv834169CNV Loss17160897
    esv7361CNV Loss19470904
    nsv9895CNV Gain+Loss18304495

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CCDC117
    DNA2.0 Custom Variant and Variant Library Synthesis for CCDC117

    (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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      --

    (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 CCDC117 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with CCDC117)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)
    4. 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)
    5. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I.... Wright H. (Nature 1999)
    6. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    7. A proteomic investigation of ligand-dependent HSP90 complexes reveals CHORDC1 as a novel ADP-dependent HSP90-interacting protein. (PubMed id 19875381)1 Gano J.J. and Simon J.A. (Mol. Cell. Proteomics 2010)
    8. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (EMBO J. 2009)
    9. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)
    10. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)

    (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: 150275 HGNC: 26599 AceView: FLJ33814 Ensembl:ENSG00000159873 euGenes: HUgn150275
    ECgene: CCDC117 H-InvDB: CCDC117

    (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 CCDC117 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 CCDC117 gene:
    Search GeneIP for patents involving CCDC117

    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, eBioscience, 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 inGenious Targeting Laboratory, genOway)
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