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CCDC71 Gene

protein-coding   GIFtS: 42
GCID: GC03M049199

Coiled-Coil Domain Containing 71

  Search for CCDC71
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 711 2
2600016J21Rik2
Coiled-Coil Domain-Containing Protein 712

External Ids:    HGNC: 257601   Entrez Gene: 649252   Ensembl: ENSG000001773527   UniProtKB: Q8IV323   

Export aliases for CCDC71 gene to outside databases

Previous GC identifer: GC03M049174


(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 CCDC71 Gene:
CCDC71 (coiled-coil domain containing 71) 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 at NCBI GenBank:
NC_000003.11  NC_018914.2  NT_022517.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the CCDC71 gene promoter:
         E2F-4   E2F-3a   E2F-1   MAZR   E2F   E2F-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for CCDC71

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCDC71


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

Entrez Gene cytogenetic band: 3p21.31   Ensembl cytogenetic band:  3p21.31   HGNC cytogenetic band: 3p21.31

CCDC71 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC71 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M049199:  view genomic region     (about GC identifiers)

Start:
49,199,968 bp from pter      End:
49,203,785 bp from pter
Size:
3,818 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: CCD71_HUMAN, Q8IV32 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 71  
Size: 467 amino acids; 49648 Da
Sequence caution: Sequence=BAB14642.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q6IPE2 Q9H8H4 Q9H9F1

Explore the universe of human proteins at neXtProt for CCDC71: NX_Q8IV32

Explore proteomics data for CCDC71 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CCDC71 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_075054.3  
    ENSEMBL proteins: 
     ENSP00000319006  

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    Search eBioscience for ELISAs for CCDC71 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR026695 Ccdc71/71L

    Graphical View of Domain Structure for InterPro Entry Q8IV32

    ProtoNet protein and cluster: Q8IV32


    Find genes that share domains with CCDC71           About GenesLikeMe


    (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 CCDC71
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CCDC71

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    hsa-mir-124-3p (MIRT022489), hsa-mir-744-5p (MIRT037673), hsa-let-7b-5p (MIRT052352)

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    Selected qRT-PCR Assays for microRNAs that regulate CCDC71 (see all 13):
    hsa-miR-3163 hsa-miR-224 hsa-miR-148b hsa-miR-27a hsa-miR-128 hsa-miR-3681* hsa-miR-488 hsa-miR-1227
    SwitchGear 3'UTR luciferase reporter plasmidCCDC71 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

    (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 CCDC71
    Interactions:

        Search GeneGlobe Interaction Network for CCDC71

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    2 Interacting proteins for CCDC71 (Q8IV323 ENSP000003190064) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    H3F3AP842433, ENSP000003557784I2D: score=1 STRING: ENSP00000355778
    H3F3BP842433I2D: score=1 
    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 CCDC71 (CCD71)



    (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 CCDC71 gene: 
    NM_022903.3  

    Unigene Cluster for CCDC71:

    Coiled-coil domain containing 71
    Hs.211472  [show with all ESTs]
    Unigene Representative Sequence: AK023691
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000321895(uc003cwg.4)
    miRNA
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    hsa-miR-3163 hsa-miR-224 hsa-miR-148b hsa-miR-27a hsa-miR-128 hsa-miR-3681* hsa-miR-488 hsa-miR-1227
    SwitchGear 3'UTR luciferase reporter plasmidCCDC71 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CCDC71
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC71
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for CCDC71
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CCDC71
      QuantiTect SYBR Green Assays in human, mouse, rat CCDC71
      QuantiFast Probe-based Assays in human, mouse, rat CCDC71

    Additional mRNA sequence: 

    AK022862.1 AK023691.1 AK098658.1 BC035516.1 BC071960.1 

    2 DOTS entries:

    DT.437603  DT.99992510 

    Selected AceView cDNA sequences (see all 46):

    CR608045 BX379877 CR610877 BM910702 AK022862 BI833119 BU189269 AL558123 
    CR617305 BI821919 CR608073 BI040362 AI350524 AU139657 AU127796 AK098658 
    BC071960 AW592134 BX346293 BX379876 AK023691 BI521490 BU849997 AL580028 

    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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    CCDC71 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCGCGATGCA
    CCDC71 Expression
    About this image

    CCDC71 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CCDC71 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.211472
        Custom PCR Arrays for CCDC71
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for CCDC71
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC71

    (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 CCDC71 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc715 coiled-coil domain containing 71   --   9 (59.38 cM) 108460518 
    chicken
    (Gallus gallus)
    Aves CCDC716
    coiled-coil domain containing 71
    48(a)
    1 ↔ 1
    12(11524664-11526414)
    lizard
    (Anolis carolinensis)
    Reptilia CCDC716
    coiled-coil domain containing 71
    47(a)
    1 ↔ 1
    2(188614661-188615854)
    zebrafish
    (Danio rerio)
    Actinopterygii CCDC716
    coiled-coil domain containing 71
    28(a)
    1 ↔ 1
    22(10342677-10372591) ENSDARG00000071570


    ENSEMBL Gene Tree for CCDC71 (if available)
    TreeFam Gene Tree for CCDC71 (if available)

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

    (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 CCDC71 (see all 125)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs613701521,2
    C--49199521(+) CCCTTT/CGGGCC 1 -- int12Minor allele frequency- C:0.05WA 120
    rs1408991101,2
    --49199533(+) GGACCC/TACACC 1 -- int10--------
    rs1851954981,2
    --49200101(+) TGAAAG/TGAGGC 1 -- ut310--------
    rs11340431,2
    C,F,A,H--49200137(-) ACTCCC/AGGTGC 1 -- ut31 ese327Minor allele frequency- A:0.26MN NS EA NA WA CSA 2768
    rs2020410461,2
    C--49200259(+) GGCAGC/G/TAATGG 3 L F syn1 mis10--------
    rs2011992661,2
    C--49200297(+) CACGCG/AGAGGA 2 /R /C mis11Minor allele frequency- A:0.00EU 953
    rs1137549791,2
    C,F--49200298(+) ACGCGG/AAGGAT 2 /L syn13Minor allele frequency- A:0.00NA EU 5491
    rs2003714421,2
    --49200334(+) TCATCC/TGAGGA 2 S syn10--------
    rs1998211231,2
    --49200448(+) GGAAGA/TTCTTT 2 E D mis10--------
    rs1479106551,2
    F--49200487(+) CCAACA/GGTCTC 2 T syn11Minor allele frequency- G:0.00NA 4552

    HapMap Linkage Disequilibrium report for CCDC71 (49199968 - 49203785 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for CCDC71:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv834686CNV Loss17160897
    nsv876764CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CCDC71
    DNA2.0 Custom Variant and Variant Library Synthesis for CCDC71

    (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 CCDC71 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with CCDC71)
        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. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (J. Cell. Sci. 2012)
    5. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)
    6. Isolation and characterization of proteins associated with histone H3 tails in vivo. (PubMed id 17403666)1 Heo K....An W. (J. Biol. Chem. 2007)
    7. 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)
    8. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)2 Muzny D.M....Gibbs R.A. (Nature 2006)
    9. 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)

    (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: 64925 HGNC: 25760 AceView: FLJ12800 Ensembl:ENSG00000177352 euGenes: HUgn64925
    ECgene: CCDC71 H-InvDB: CCDC71

    (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 CCDC71 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 CCDC71 gene:
    Search GeneIP for patents involving CCDC71

    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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