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CCDC79 Gene

protein-coding   GIFtS: 35
GCID: GC16M066788

Coiled-Coil Domain Containing 79

  Search for CCDC79
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 791 2
Coiled-Coil Domain-Containing Protein 792 3
Telomere Repeats-Binding Bouquet Formation Protein 12
TERB13

External Ids:    HGNC: 266751   Entrez Gene: 2838472   Ensembl: ENSG000002499617   UniProtKB: Q8NA313   

Export aliases for CCDC79 gene to outside databases

Previous GC identifers: GC16M065346 GC16M052664


(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 CCDC79 Gene:
CCDC79 (coiled-coil domain containing 79) is a protein-coding gene. GO annotations related to this gene include chromatin binding.

UniProtKB/Swiss-Prot: TERB1_HUMAN, Q8NA31
Function: Meiosis-specific telomere-associated protein involved in meiotic telomere clustering, also named bouquet
formation, the telomere-mediated chromosomal movement along the nuclear envelope which is crucial for homologous
pairing and synapsis. Probably acts as a hub for the assembly of a conserved meiotic telomere complex required
for chromosome movements via interaction with TERF1. Promotes telomere association with the nuclear envelope and
deposition of the SUN-KASH/LINC complex. Also recruits cohesin to telomeres to develop structural rigidity (By
similarity)




(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_000016.10  NT_010498.16  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CCDC79 gene promoter:
         SRF   SRF (504 AA)   GATA-1   E47   HEN1   IRF-2   POU2F1   POU2F1a   Hand1   MRF-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for CCDC79

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCDC79


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

Entrez Gene cytogenetic band: 16q22.1   Ensembl cytogenetic band:  16q22.1   HGNC cytogenetic band: 16q22.1

CCDC79 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC79 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M066788:  view genomic region     (about GC identifiers)

Start:
66,788,879 bp from pter      End:
66,835,523 bp from pter
Size:
46,645 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, 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TERB1_HUMAN, Q8NA31 (See protein sequence)
Recommended Name: Telomere repeats-binding bouquet formation protein 1  
Size: 727 amino acids; 83064 Da
Subunit: Interacts with TERF1, STAG3 and SUN1. Interacts (via Myb-like domain) with the cohesin complex; probably
mediated via interaction with STAG3 (By similarity)
Secondary accessions: A0AUW1
Alternative splicing: 3 isoforms:  Q8NA31-1   Q8NA31-2   Q8NA31-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CCDC79: NX_Q8NA31

Explore proteomics data for CCDC79 at MOPED

Post-translational modifications: 

  • Phosphorylation by some CDK protein impairs telomeres localization and interaction with TERF1 (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CCDC79 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001129977.1  
    ENSEMBL proteins: 
     ENSP00000462883   ENSP00000464579   ENSP00000462842   ENSP00000462482   ENSP00000463762  
     ENSP00000462977   ENSP00000462037   ENSP00000462236  

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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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    4 InterPro protein domains:
     IPR011989 ARM-like
     IPR001005 SANT/Myb
     IPR009057 Homeodomain-like
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry Q8NA31

    ProtoNet protein and cluster: Q8NA31

    UniProtKB/Swiss-Prot: TERB1_HUMAN, Q8NA31
    Similarity: Belongs to the TERB1 family
    Similarity: Contains 2 ARM repeats
    Similarity: Contains 1 Myb-like domain


    CCDC79 for domains           About GeneDecksing


    (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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TERB1_HUMAN, Q8NA31
    Function: Meiosis-specific telomere-associated protein involved in meiotic telomere clustering, also named bouquet
    formation, the telomere-mediated chromosomal movement along the nuclear envelope which is crucial for homologous
    pairing and synapsis. Probably acts as a hub for the assembly of a conserved meiotic telomere complex required
    for chromosome movements via interaction with TERF1. Promotes telomere association with the nuclear envelope and
    deposition of the SUN-KASH/LINC complex. Also recruits cohesin to telomeres to develop structural rigidity (By
    similarity)

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003682chromatin binding IEA--
    GO:0005488binding ----
         
    CCDC79 for ontologies           About GeneDecksing


    Animal Models:
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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 UniProtKB/Swiss-Prot
    TERB1_HUMAN, Q8NA31: Chromosome, telomere (By similarity). Note=Localizes to telomeres during meiotic prophase
    (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus2
    cytosol1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000781chromosome, telomeric region ISS--

    CCDC79 for ontologies           About GeneDecksing


    (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 CCDC79
    Interactions:

        Search GeneGlobe Interaction Network for CCDC79

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007129synapsis ISS--
    GO:0045141meiotic telomere clustering ISS--

    CCDC79 for ontologies           About GeneDecksing



    (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 CCDC79 (TERB1)



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CCDC79 gene (2 alternative transcripts): 
    NM_001136505.1  NM_173616.1  

    Unigene Cluster for CCDC79:

    Coiled-coil domain containing 79
    Hs.376505  [show with all ESTs]
    Unigene Representative Sequence: NM_001136505
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000558713 ENST00000313294(uc002eqc.1) ENST00000559403 ENST00000561333(uc002eqd.1)
    ENST00000559050 ENST00000433154(uc010viv.2) ENST00000432602 ENST00000433574
    ENST00000415744
    miRNA
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    Primer
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    2 DOTS entries:

    DT.99998373  DT.40124721 

    5 AceView cDNA sequences:

    BX088997 AX747993 NM_173616 AK093213 AA758818 

    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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    CCDC79 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTTTAAACA
    CCDC79 Expression
    About this image


    CCDC79 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Ovary (Reproductive System)
             XX Germ Cells Ovigerous Cord
     
     Neurons
             nGnG Amacrine Cells Inner Nuclear Layer
     
     Gonad
             XX Germ Cells Ovigerous Cord
     
     Eye (Sensory Organs)
             nGnG Amacrine Cells Inner Nuclear Layer
     
     Testis (Reproductive System)
    CCDC79 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CCDC79 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.376505
        Custom PCR Arrays for CCDC79
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    In Situ
    Assay Products:
     

     
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    (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 CCDC79 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc791 , 5 coiled-coil domain containing 791, 5 82.8(n)1
    71.84(a)1
      8 (53.04 cM)5
    3200221  NM_180958.31  NP_851289.21 
     1044467195 
    chicken
    (Gallus gallus)
    Aves CCDC791 coiled-coil domain containing 79 65.44(n)
    53.38(a)
      769532  XM_001232197.3  XP_001232198.3 
    lizard
    (Anolis carolinensis)
    Reptilia CCDC796
    coiled-coil domain containing 79
    48(a)
    1 ↔ 1
    GL343295.1(175388-192321)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ccdc791 coiled-coil domain containing 79 57.74(n)
    47.45(a)
      100488611  XM_002933673.2  XP_002933719.2 
    zebrafish
    (Danio rerio)
    Actinopterygii ccdc791 coiled-coil domain containing 79 51.48(n)
    44.24(a)
      559140  NM_001089382.1  NP_001082851.1 


    ENSEMBL Gene Tree for CCDC79 (if available)
    TreeFam Gene Tree for CCDC79 (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 CCDC79 (see all 805)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1494339791,2
    --66788441(+) ATATTG/TATTTA 1 -- ds50010--------
    rs1927711591,2
    --66788897(+) CACGTG/TGGGTG 2 P syn10--------
    rs2019942221,2
    C--66788941(+) CACAGA/CCTTCC 2 A S mis10--------
    rs782169621,2
    C,F--66789051(+) TTTTGC/TGAATT 2 H R mis11Minor allele frequency- T:0.02WA 118
    rs1145332481,2
    F--66789098(+) AGTATT/CTGCTG 1 -- int11Minor allele frequency- C:0.02WA 118
    rs110756431,2
    C,F,A,H--66789125(+) TGCAAA/GTAAGT 1 -- int19Minor allele frequency- G:0.35NA WA EA 372
    rs1176359851,2
    F--66789291(+) AACTTA/CATTGA 1 -- int11Minor allele frequency- C:0.02NA 120
    rs1839815421,2
    --66789373(+) TGTGAA/GGACAG 1 -- int10--------
    rs1168841281,2
    C,F--66789540(+) AGGCAT/CGGTGG 1 -- int11Minor allele frequency- C:0.06NA 120
    rs1889558271,2
    --66789694(+) ATAAAA/TAAAAA 1 -- int10--------

    HapMap Linkage Disequilibrium report for CCDC79 (66788879 - 66835523 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for CCDC79:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2579855CNV Deletion19546169
    esv1025546CNV Deletion17803354
    esv1727322CNV Deletion17803354
    esv2714645CNV Deletion23290073
    esv1974003CNV Deletion18987734
    nsv103310CNV Loss16902084
    nsv906786CNV Loss21882294
    esv8216CNV Loss19470904
    dgv2885n71CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing CCDC79
    DNA2.0 Custom Variant and Variant Library Synthesis for CCDC79

    (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 CCDC79 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with CCDC79)
        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 Ota T.... Sugano S. (Nat. Genet. 2004)
    2. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)2 Martin J.... Pennacchio L.A. (Nature 2004)
    3. 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)
    4. 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: 283847 HGNC: 26675 AceView: FLJ35894 Ensembl:ENSG00000249961 euGenes: HUgn283847
    ECgene: CCDC79 H-InvDB: CCDC79

    (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 CCDC79 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 CCDC79 gene:
    Search GeneIP for patents involving CCDC79

    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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