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

CCDC147 Gene

protein-coding   GIFtS: 44
GCID: GC10P106103

Coiled-Coil Domain Containing 147

(Previous name: chromosome 10 open reading frame 80)
(Previous symbol: C10orf80)
  Search for CCDC147
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 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NT_030059.13  NC_018921.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CCDC147

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

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5T655

  • CCDC147 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CCDC147 Protein Expression
    REFSEQ proteins: NP_001008723.1  
    ENSEMBL proteins: 
     ENSP00000358718   ENSP00000358717   ENSP00000323620  

    Human Recombinant Protein Products for CCDC147: 
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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: 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, 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

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
         
    CCDC147 for ontologies           About GeneDecksing


    Animal Models:
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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 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 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 CCDC147 (CC147)

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    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 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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    hsa-miR-569 hsa-miR-889
    SwitchGear 3'UTR luciferase reporter plasmidCCDC147 3' UTR sequence
    Inhib. RNA
    Products:
         
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CCDC147
      QIAGEN 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 AW206651 BC036225 AK093227 AW273472 AW594041 BX641120 
    BI461075 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™, 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

    CCDC147 expression in normal human tissues (normalized intensities)      CCDC147 embryonic expression: see
    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 
     5/4 selected tissues (see all 4) fully expand
     
     Epithelium (Respiratory System)    fully expand to see all 2 entries
             bronchial epithelial cells   
     
     Ovary (Reproductive System)
             Secondary Oocyte Antral Follicle
     
     Gonad
             Secondary Oocyte Antral Follicle
     
     Testis (Reproductive System)

    See CCDC147 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CCDC147

    SOURCE GeneReport for Unigene cluster: Hs.253576
        SABiosciences 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for CCDC147 gene from 6/16 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 83.41(n)1
    86.7(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 72.04(n)
    68.25(a)
      423882  XM_421748.2  XP_421748.2 
    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 41.92(n)
    26.27(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)
    About This Section
    Paralogs for CCDC147 gene
    CCDC1462  

    CCDC147 for paralogs           About GeneDecksing



    (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

    10/2058 SNPs in CCDC147 are shown (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

    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

    CCDC147 for disorders           About MalaCards

    CCDC147 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for CCDC147 gene integrated from 9 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. (2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    4. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    5. The protein network surrounding the human telomere re peat binding factors TRF1, TRF2, and POT1. (PubMed id 20811636)1 Giannone R.J....Liu Y. (2010)
    6. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (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. (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. (2002)

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

    (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 CCDC147 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 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, 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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     Proteins for CCDC147
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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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    (GIFtS: 73)
    transforming growth factor, beta 1
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