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CCDC129 Gene

protein-coding   GIFtS: 40
GCID: GC07P031523

Coiled-Coil Domain Containing 129

  See related diseases
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 1291 2
Coiled-Coil Domain-Containing Protein 1292

External Ids:    HGNC: 273631   Entrez Gene: 2230752   Ensembl: ENSG000001803477   UniProtKB: Q6ZRS43   

Export aliases for CCDC129 gene to outside databases


(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 CCDC129 Gene:
CCDC129 (coiled-coil domain containing 129) is a protein-coding gene. Diseases associated with CCDC129 include breast and colorectal cancer, and colorectal cancer. An important paralog of this gene is TESPA1.


(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:
NC_000007.14  NT_007819.18  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CCDC129 gene promoter:
         GCNF   POU3F2   FOXL1   AREB6   SRY   FOXO4   GCNF-1   Cart-1   GCNF-2   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CCDC129 promoter sequence
   Search Chromatin IP Primers for CCDC129

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCDC129


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

Entrez Gene cytogenetic band: 7p14.3   Ensembl cytogenetic band:  7p14.3   HGNC cytogenetic band: 7p14.3

CCDC129 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC129 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P031523:  view genomic region     (about GC identifiers)

Start:
31,553,704 bp from pter      End:
31,698,334 bp from pter
Size:
144,631 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 31,604,683-31,741,029     

(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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CC129_HUMAN, Q6ZRS4 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 129  
Size: 1044 amino acids; 115403 Da
Sequence caution: Sequence=BAG65223.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A2RU17 B3KTI9 B4DHB0 B4E2R1 F5H3V5
Alternative splicing: 4 isoforms:  Q6ZRS4-1   Q6ZRS4-2   Q6ZRS4-3   Q6ZRS4-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CCDC129: NX_Q6ZRS4

Explore proteomics data for CCDC129 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CCDC129 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001244896.1  NP_001244897.1  NP_919276.2  

    ENSEMBL proteins: 
     ENSP00000387220   ENSP00000390544   ENSP00000313062   ENSP00000384416   ENSP00000413233  
     ENSP00000387214   ENSP00000395835  

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    Cloud-Clone Corp. CLIAs for CCDC129


    (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: Q6ZRS4


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CCDC129
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CCDC129

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CCDC129
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CCDC129

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    Predesigned siRNA for gene silencing in human, mouse, rat CCDC129

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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC129

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC129


    (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
    cytosol1

    (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 CCDC129
    Interactions:

        Search GeneGlobe Interaction Network for CCDC129

    (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 CCDC129 (CC129)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CCDC129 gene (3 alternative transcripts): 
    NM_001257967.1  NM_001257968.1  NM_194300.3  

    Unigene Cluster for CCDC129:

    Coiled-coil domain containing 129
    Hs.224269  [show with all ESTs]
    Unigene Representative Sequence: AK128026
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000409717 ENST00000456011 ENST00000319386(uc011kad.1 uc003tcj.1 uc003tci.1)
    ENST00000407970 ENST00000482748 ENST00000454513 ENST00000409210(uc003tck.1)
    ENST00000471139 ENST00000463693 ENST00000451887(uc011kae.2)
    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat CCDC129
      QuantiFast Probe-based Assays in human, mouse, rat CCDC129

    Additional mRNA sequence: 

    AK095663.1 AK128026.1 AK295011.1 AK304387.1 BC132719.1 NR_047565.1 

    5 DOTS entries:

    DT.70103053  DT.101977386  DT.75110509  DT.99938300  DT.121116567 

    17 AceView cDNA sequences:

    BF477838 BE670564 AW051699 AW196690 AK128026 AK095663 AI688561 BE672879 
    AI184130 BE328040 NM_194300 BE502832 AI948874 BE218326 BE504029 AW236837 
    AI635741 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for CCDC129    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16
    SP1:        -           -                                               -                                                   
    SP2:                                                                                                              -         
    SP3:              -     -                                                                                                   


    ECgene alternative splicing isoforms for CCDC129

    (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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    CCDC129 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGGCTATTA
    CCDC129 Expression
    About this image

    CCDC129 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CCDC129 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.224269
        Custom PCR Arrays for CCDC129
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC129

    (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 CCDC129 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc1291 , 5 coiled-coil domain containing 1291, 5 72.68(n)1
    61.38(a)1
      6 (27.65 cM)5
    2320161  NM_001081665.11  NP_001075134.11 
     558368955 
    chicken
    (Gallus gallus)
    Aves CCDC1291 coiled-coil domain containing 129 60.52(n)
    50.62(a)
      101751288  XM_004939550.1  XP_004939607.1 
    lizard
    (Anolis carolinensis)
    Reptilia CCDC1296
    coiled-coil domain containing 129
    33(a)
    1 ↔ 1
    6(44643908-44711031)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.105802 Transcribed sequence with weak similarity to protein more 76.19(n)    137717263 
    zebrafish
    (Danio rerio)
    Actinopterygii ccdc1296
    coiled-coil domain containing 129
    18(a)
    1 ↔ 1
    24(33620073-33657785) ENSDARG00000086805


    ENSEMBL Gene Tree for CCDC129 (if available)
    TreeFam Gene Tree for CCDC129 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CCDC129 gene
    TESPA12  SSFA22  

    CCDC129 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), 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 CCDC129 (see all 3022)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0354964
    A colorectal cancer sample4--see VAR_0354962 L V mis40--------
    rs1173443341,2
    C,F--31551820(+) CTGTGG/AACAAC 1 -- us2k11Minor allele frequency- A:0.02NA 120
    rs1471590871,2
    --31551834(+) ATTGTA/GAGGAA 1 -- us2k10--------
    rs1403127151,2
    --31551853(+) AAGGCA/GCTATG 1 -- us2k10--------
    rs1420527981,2
    C--31552079(+) CTTTAC/GCTTCT 1 -- us2k10--------
    rs21904431,2
    C,F,A,H--31552117(-) GAATCT/CTGTTT 1 -- us2k120Minor allele frequency- C:0.09NS EA NA 2364
    rs1897859521,2
    --31552159(+) CAAAAC/TGAAAC 1 -- us2k10--------
    rs1807306061,2
    --31552187(+) AACAAA/CATAAT 1 -- us2k10--------
    rs1171127071,2
    F--31552258(+) TAATGC/TGACTT 1 -- us2k11Minor allele frequency- T:0.01EA 120
    rs767090301,2
    --31552264(+) GACTTC/TGCTGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CCDC129 (31553704 - 31698334 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for CCDC129:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2670415CNV Deletion23128226
    nsv436557CNV Deletion17901297
    esv995660CNV Deletion20482838
    esv269282CNV Insertion20981092
    dgv1096n67CNV Loss20364138
    nsv819342CNV Loss19587683
    dgv166e180CNV Loss20482838
    esv24313CNV Loss19812545
    dgv7244n71CNV Gain21882294
    esv2752155CNV Gain17911159

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CCDC129
    DNA2.0 Custom Variant and Variant Library Synthesis for CCDC129

    (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.)
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    2 diseases for CCDC129:    
    About MalaCards
    breast and colorectal cancer    colorectal cancer


    CCDC129 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CCDC129
    Human Genome Epidemiology (HuGE) Navigator: CCDC129 (1 document)

    Export disorders for CCDC129 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 CCDC129 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with CCDC129)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2, 3 Ota T.... Sugano S. (Nat. Genet. 2004)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. 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)
    4. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (Science 2006)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. The DNA sequence of human chromosome 7. (PubMed id 12853948)2 Hillier L.W.... Wilson R.K. (Nature 2003)
    7. 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: 223075 HGNC: 27363 AceView: LOC223075 Ensembl:ENSG00000180347 euGenes: HUgn223075
    ECgene: CCDC129 H-InvDB: CCDC129

    (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 CCDC129 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 CCDC129 gene:
    Search GeneIP for patents involving CCDC129

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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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