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CCDC127 Gene

protein-coding   GIFtS: 44
GCID: GC05M000204

Coiled-Coil Domain Containing 127

  Search for CCDC127
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 1271 2
Coiled-Coil Domain-Containing Protein 1272

External Ids:    HGNC: 305201   Entrez Gene: 1339572   Ensembl: ENSG000001643667   UniProtKB: Q96BQ53   

Export aliases for CCDC127 gene to outside databases

Previous GC identifer: GC05M000258


(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 CCDC127 Gene:
CCDC127 (coiled-coil domain containing 127) 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:
NC_000005.10  NT_006576.17  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CCDC127 gene promoter:
         p53   ATF-2   Lmo2   RelA   CUTL1   NF-kappaB   YY1   HOXA5   NF-kappaB2   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCDC127 promoter sequence
   Search Chromatin IP Primers for CCDC127

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCDC127


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

Entrez Gene cytogenetic band: 5p15.33   Ensembl cytogenetic band:  5p15.33   HGNC cytogenetic band: 5p15.33

CCDC127 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC127 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M000204:  view genomic region     (about GC identifiers)

Start:
196,986 bp from pter      End:
218,330 bp from pter
Size:
21,345 bases      Orientation:
minus 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: CC127_HUMAN, Q96BQ5 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 127  
Size: 260 amino acids; 30834 Da

Explore the universe of human proteins at neXtProt for CCDC127: NX_Q96BQ5

Explore proteomics data for CCDC127 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys160
  • Modification sites at PhosphoSitePlus

  • See CCDC127 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_660308.1  
    ENSEMBL proteins: 
     ENSP00000296824   ENSP00000411206  

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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: Q96BQ5


    (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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    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CCDC127
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    miRTarBase miRNAs that target CCDC127:
    hsa-mir-615-3p (MIRT039605)

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    1 qRT-PCR Assays for microRNA that regulate CCDC127:
    hsa-miR-3162-5p
    SwitchGear 3'UTR luciferase reporter plasmidCCDC127 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC127


    (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
    cytosol2
    nucleus2
    mitochondrion1

    (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 CCDC127
    Interactions:

        Search GeneGlobe Interaction Network for CCDC127

    1 Interacting protein for CCDC127 (Q96BQ52, 3) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RNF11Q9Y3C52, 3MINT-60846 I2D: score=3 
    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 CCDC127 (CC127)



    (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 CCDC127 gene: 
    NM_145265.2  

    Unigene Cluster for CCDC127:

    Coiled-coil domain containing 127
    Hs.294145  [show with all ESTs]
    Unigene Representative Sequence: BC015349
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000296824(uc003jam.1) ENST00000441693
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate CCDC127:
    hsa-miR-3162-5p
    SwitchGear 3'UTR luciferase reporter plasmidCCDC127 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat CCDC127
      QuantiFast Probe-based Assays in human, mouse, rat CCDC127

    Additional mRNA sequence: 

    AK098567.1 BC015349.2 

    6 DOTS entries:

    DT.212310  DT.101955638  DT.92420598  DT.100698157  DT.120852094  DT.40123043 

    Selected AceView cDNA sequences (see all 108):

    CD672663 BQ053079 CR603714 AI304360 CR615991 CR608728 BX401992 BM703020 
    BX380441 CA307814 BU729246 CR614339 AL555202 BU634043 NM_145265 CR609137 
    AA970110 AK098567 AI434004 CA314955 BM479260 CR602658 CK904769 AA502016 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for CCDC127    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5
    SP1:        -           -         
    SP2:              -               


    ECgene alternative splicing isoforms for CCDC127

    (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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    CCDC127 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCACACCGT
    CCDC127 Expression
    About this image

    CCDC127 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CCDC127 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.294145
        Custom PCR Arrays for CCDC127
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    QuantiFast Probe-based Assays in human, mouse, rat CCDC127
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC127

    (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 CCDC127 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc1271 , 5 coiled-coil domain containing 1271, 5 81.15(n)1
    82.69(a)1
      13 (40.17 cM)5
    674331  NM_001168659.11  NP_001162130.11 
     743503095 
    chicken
    (Gallus gallus)
    Aves CCDC1271 coiled-coil domain containing 127 67.44(n)
    65.12(a)
      420970  NM_001031006.1  NP_001026177.1 
    lizard
    (Anolis carolinensis)
    Reptilia CCDC1276
    coiled-coil domain containing 127
    64(a)
    1 ↔ 1
    6(56556572-56568836)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ccdc1271 coiled-coil domain containing 127 64.97(n)
    62.11(a)
      549322  NM_001016568.2  NP_001016568.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ccdc127a1 coiled-coil domain containing 127a 57.65(n)
    52.55(a)
      751722  NM_001045432.1  NP_001038897.1 


    ENSEMBL Gene Tree for CCDC127 (if available)
    TreeFam Gene Tree for CCDC127 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CCDC127 gene

    Find genes that share paralogs with CCDC127           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for CCDC127
    PGOHUM00000235498


    (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 CCDC127 (see all 394)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs93129621,2
    C,F,A--204440(+) CAAAGC/AGTAAT 1 -- ds50019Minor allele frequency- A:0.29WA NA CSA EA 369
    rs96872771,2
    C,F,H--204475(+) GACTGA/CGGATT 1 -- ds500111Minor allele frequency- C:0.16NA NS EA WA 676
    rs96872851,2
    C,F--204573(+) TAAACA/GATGAG 1 -- ds50014Minor allele frequency- G:0.39NA WA 124
    rs105847871,2
    C--204632(+) GTGGC-/ATTATTAC 1 -- ds50010--------
    rs594937091,2
    C--204633(+) CATTA-/TTACTCAT 1 -- ds50010--------
    rs1907168071,2
    C--204653(+) GGCAAG/TTATTT 1 -- ds50010--------
    rs1822252171,2
    --204742(+) AACTGC/GATACA 1 -- ds50010--------
    rs10541741,2
    C,F,A,H--204952(-) AATAGG/AAAGTA 1 -- ut3121Minor allele frequency- A:0.32NA NS EA WA CSA 2336
    rs1844762781,2
    --204956(+) TCCTAC/TTACCT 1 -- ut310--------
    rs744755731,2
    C--204986(+) TATCTG/TACAAA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for CCDC127 (196986 - 218330 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CCDC127 (see all 18):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1179194CNV Deletion17803354
    esv2630858CNV Deletion19546169
    esv993161CNV Deletion20482838
    esv1572597CNV Deletion17803354
    esv1005832CNV Deletion20482838
    nsv523382CNV Loss19592680
    dgv5879n71CNV Loss21882294
    nsv881455CNV Loss21882294
    nsv880815CNV Loss21882294
    dgv5878n71CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CCDC127
    DNA2.0 Custom Variant and Variant Library Synthesis for CCDC127

    (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 CCDC127 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with CCDC127)
        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. 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)
    4. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    5. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    7. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    8. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
    9. Functional proteomics mapping of a human signaling pathway. (PubMed id 15231748)1 Colland F....Gauthier J.M. (Genome Res. 2004)

    (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: 133957 HGNC: 30520 AceView: LOC133957 Ensembl:ENSG00000164366 euGenes: HUgn133957
    ECgene: CCDC127 H-InvDB: CCDC127

    (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 CCDC127 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 CCDC127 gene:
    Search GeneIP for patents involving CCDC127

    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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