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CCDC147 Gene

protein-coding   GIFtS: 46
GCID: GC10P106103

Coiled-Coil Domain Containing 147

(Previous name: chromosome 10 open reading frame 80)
(Previous symbol: C10orf80)
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(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 1471 2     bA554P13.12
C10orf801 2 3     BA127L20.4 (Novel Protein)2
Chromosome 10 Open Reading Frame 801     BA127L20.5 (Novel Protein)2
bA127L20.42     Coiled-Coil Domain-Containing Protein 1472
bA127L20.52     

External Ids:    HGNC: 266761   Entrez Gene: 1596862   Ensembl: ENSG000001200517   UniProtKB: Q5T6553   

Export aliases for CCDC147 gene to outside databases

Previous GC identifer: GC10P099745


(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 CCDC147 Gene:
CCDC147 (coiled-coil domain containing 147) is a protein-coding gene. An important paralog of this gene is CCDC146.


(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_000010.10  NC_018921.2  NT_030059.14  
Regulatory elements:
   Regulatory transcription factor binding sites in the CCDC147 gene promoter:
         HOXA9B   SRF   ISGF-3   SRF (504 AA)   MZF-1   POU2F1   POU2F1a   POU2F1b   FOXO4   POU2F1c   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCDC147 promoter sequence
   Search Chromatin IP Primers for CCDC147

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCDC147


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

Entrez Gene cytogenetic band: 10q25.1   Ensembl cytogenetic band:  10q25.1   HGNC cytogenetic band: 10q25.1

CCDC147 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC147 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P106103:  view genomic region     (about GC identifiers)

Start:
106,113,522 bp from pter      End:
106,214,848 bp from pter
Size:
101,327 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: CC147_HUMAN, Q5T655 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 147  
Size: 872 amino acids; 103417 Da
Secondary accessions: D3DRA6 Q8NA27

Explore the universe of human proteins at neXtProt for CCDC147: NX_Q5T655

Explore proteomics data for CCDC147 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CCDC147 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001008723.1  
    ENSEMBL proteins: 
     ENSP00000358718   ENSP00000358717   ENSP00000323620  

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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: Q5T655

    1 Blocks protein domain: IPB011072 Protein kinase PKN/PRK1


    (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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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
         
    Find genes that share ontologies with CCDC147           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for CCDC147

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    hsa-mir-335-5p (MIRT018804)

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    hsa-miR-569 hsa-miR-889
    SwitchGear 3'UTR luciferase reporter plasmidCCDC147 3' UTR sequence
    Inhib. RNA
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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
    golgi apparatus2

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA--

    Find genes that share ontologies with CCDC147           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 CCDC147
    Interactions:

        Search GeneGlobe Interaction Network for CCDC147

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

    2 Interacting proteins for CCDC147 (Q5T6553 ENSP000003587184) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TERF1P542743, ENSP000002766034I2D: score=1 STRING: ENSP00000276603
    POT1Q9NUX53, ENSP000003502494I2D: score=1 STRING: ENSP00000350249
    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 CCDC147 (CC147)



    (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 CCDC147 gene: 
    NM_001008723.1  

    Unigene Cluster for CCDC147:

    Coiled-coil domain containing 147
    Hs.253576  [show with all ESTs]
    Unigene Representative Sequence: BX641120
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369704(uc001kyh.3) ENST00000369703 ENST00000312902
    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate CCDC147:
    hsa-miR-569 hsa-miR-889
    SwitchGear 3'UTR luciferase reporter plasmidCCDC147 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat CCDC147
      QuantiFast Probe-based Assays in human, mouse, rat CCDC147

    Additional mRNA sequence: 

    AK093227.1 AK296463.1 BC036225.1 BC109126.2 BX641120.1 

    2 DOTS entries:

    DT.95069409  DT.65288522 

    12 AceView cDNA sequences:

    BX280979 AX748000 AK093227 BC036225 AW206651 BI461075 AW273472 BX641120 
    AW594041 AI341154 BG185779 CD703576 

    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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    CCDC147 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGATGAGAAA
    CCDC147 Expression
    About this image


    CCDC147 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Testis (Reproductive System)
             Mature Sertoli Cells Seminiferous Tubules
     
     Ovary (Reproductive System)
             Secondary Oocyte Antral Follicle
     
     Gonad
             Secondary Oocyte Antral Follicle
    CCDC147 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CCDC147 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.253576
        Custom PCR Arrays for CCDC147
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC147

    (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 CCDC147 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc1471 , 5 coiled-coil domain containing 1471, 5 83.96(n)1
    87.62(a)1
      19 (40.60 cM)5
    3812291  NM_001163267.11  NP_001156739.11 
     479377125 
    chicken
    (Gallus gallus)
    Aves CCDC1471 coiled-coil domain containing 147 72.26(n)
    68.79(a)
      423882  XM_421748.3  XP_421748.3 
    lizard
    (Anolis carolinensis)
    Reptilia CCDC1476
    coiled-coil domain containing 147
    74(a)
    1 ↔ 1
    3(41654738-41756946)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.322432 Xenopus laevis transcribed sequences 75.5(n)    CD360194.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.185412 Transcribed sequence 74.79(n)    BQ419634.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG58821 CG5882 43.21(n)
    27.15(a)
      43269  NM_143283.1  NP_651540.1 


    ENSEMBL Gene Tree for CCDC147 (if available)
    TreeFam Gene Tree for CCDC147 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CCDC147 gene
    CCDC1462  

    Find genes that share paralogs with CCDC147           About GenesLikeMe



    (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 CCDC147 (see all 2058)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1430143351,2
    Cuntested1106124603(+) AGCAGA/C/GAAACA 2 K E mis11NA 4552
    rs1139217621,2
    F--106115352(+) ACTAAC/TTGATA 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs1911411921,2
    --106115457(+) GTTCAC/TGTTGA 1 -- int10--------
    rs1480687771,2
    --106115503(+) TAACAG/TTGGAA 1 -- int10--------
    rs127694901,2
    C,F,H--106115547(+) TATTTT/CTCCTT 1 -- int1 trp318Minor allele frequency- C:0.15NS EA NA WA 2342
    rs1172827141,2
    C,F--106115574(+) AGGAAC/AAAATC 1 -- int11Minor allele frequency- A:0.02NA 120
    rs1160213351,2
    C,F--106115906(+) AACCTA/GTGTGA 1 -- int11Minor allele frequency- G:0.06WA 118
    rs122578481,2
    C,F,H--106115948(+) AATGCT/AATAGA 1 -- int16Minor allele frequency- A:0.03NS EA WA 538
    rs1179446941,2
    F--106115961(+) TGCTTG/CTGACT 1 -- int11Minor allele frequency- C:0.03EA 120
    rs728258711,2
    C--106115962(+) GCTTGT/CGACTC 1 -- int13Minor allele frequency- C:0.04CSA WA NA 240

    HapMap Linkage Disequilibrium report for CCDC147 (106113522 - 106214848 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for CCDC147:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2136408CNV Deletion18987734
    esv2740373CNV Deletion23290073
    esv2112142CNV Deletion18987734
    nsv25421CNV Loss16902084

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    (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 CCDC147           About GenesLikeMe

    Genetic Association Database (GAD): CCDC147

    Export disorders for CCDC147 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 CCDC147 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with CCDC147)
        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. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (Nature 2004)
    4. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    5. The protein network surrounding the human telomere repeat binding factors TRF1, TRF2, and POT1. (PubMed id 20811636)1 Giannone R.J....Liu Y. (PLoS ONE 2010)
    6. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (Cell 2010)
    7. A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study. (PubMed id 17903292)4 Hwang S.J....Fox C.S. (BMC Med. Genet. 2007)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (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: 159686 HGNC: 26676 AceView: C10orf80 Ensembl:ENSG00000120051 euGenes: HUgn159686
    ECgene: CCDC147 H-InvDB: CCDC147

    (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 CCDC147 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 CCDC147 gene:
    Search GeneIP for patents involving CCDC147

    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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      Search antibodies-online for proteins for CCDC147
           
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