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

CCDC117 Gene

protein-coding   GIFtS: 41
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)
About This Section

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

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NT_011520.12  NC_018933.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CCDC117

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8IWD4

  • CCDC117 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CCDC117 Protein Expression
    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)
    About This Section

    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,
    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

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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CCDC117 
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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 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 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 CCDC117 (CC117)

    Search CenterWatch for drugs/clinical trials and news about 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,
    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 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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    8/69 QIAGEN miScript miRNA 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
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CCDC117
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CCDC117
    Clone
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    OriGene clones in human, mouse for CCDC117 (see all 7)
    OriGene ORF clones in mouse, rat for CCDC117
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    GenScript: all cDNA clones in your preferred vector: CCDC117 (NM_173510)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC117
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    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 

    24/170 AceView cDNA sequences (see all 170):

    Z41665 AI373370 BM829216 AA426139 CR456461 AA424919 AA418083 BC053874 
    AA770192 AA969156 CD643560 AI417141 AI168645 AV650620 AI093952 AA453804 
    BQ639669 AA422115 AI223864 AA418230 AA741277 BX478425 BF795360 BM846250 

    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™, 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

    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


    See CCDC117 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CCDC117

    SOURCE GeneReport for Unigene cluster: Hs.406460
        SABiosciences Custom PCR Arrays for CCDC117
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CCDC117
    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CCDC117 gene from 3/9 species (see all 9)    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 65.96(n)
    57.87(a)
      416917  XM_003642208.1  XP_003642256.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CCDC1176
    coiled-coil domain containing 117
    24(a)
    1 ↔ 1
    5(28431518-28439987)


    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)
    About This Section
    Paralogs for CCDC117 gene

    CCDC117 for paralogs           About GeneDecksing


    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) 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

    10/481 SNPs in CCDC117 are shown (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

    SABiosciences Cancer Mutation PCR Assays
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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
      --

    (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 CCDC117 gene integrated from 9 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. (2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (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. (2002)
    5. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I....O'Brien K.P. (1999)
    6. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    7. A proteomic investigation of ligand-dependent HSP90 c omplexes reveals CHORDC1 as a novel ADP-dependent HSP90-interacting protein. (PubMed id 19875381)1 Gano J.J. and Simon J.A. (2010)
    8. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    9. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (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. (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: 150275 HGNC: 26599 AceView: FLJ33814 Ensembl:ENSG00000159873 euGenes: HUgn150275
    ECgene: CCDC117 H-InvDB: CCDC117

    (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 CCDC117 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 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, 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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