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CCDC176 Gene

protein-coding   GIFtS: 34
GCID: GC14P074487

Coiled-Coil Domain Containing 176

(Previous name: chromosome 14 open reading frame 45)
(Previous symbol: C14orf45)
  Search for CCDC176
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 1761 2
C14orf451 2 3
Coiled-Coil Domain-Containing Protein 1762 3
Chromosome 14 Open Reading Frame 451
Basal Body-Orientation Factor 12
BBOF13

External Ids:    HGNC: 198551   Entrez Gene: 801272   Ensembl: ENSG000001196367   UniProtKB: Q8ND073   

Export aliases for CCDC176 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 CCDC176 Gene:
CCDC176 (coiled-coil domain containing 176) is a protein-coding gene.

UniProtKB/Swiss-Prot: BBOF1_HUMAN, Q8ND07
Function: Basal body protein required in multiciliate cells to align and maintain cilia orientation in response to
flow. May act by mediating a maturation step that stabilizes and aligns cilia orientation. Not required to
respond to planar cell polarity (PCP) or flow-based orientation cues (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 at NCBI GenBank:
NC_000014.8  NT_026437.13  NC_018925.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for CCDC176
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for CCDC176

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCDC176


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

Entrez Gene cytogenetic band: 14q24.3   Ensembl cytogenetic band:  14q24.3   HGNC cytogenetic band: 14q24.3

CCDC176 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC176 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P074487:  view genomic region     (about GC identifiers)

Start:
74,486,056 bp from pter      End:
74,549,566 bp from pter
Size:
63,511 bases      Orientation:
plus 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: BBOF1_HUMAN, Q8ND07 (See protein sequence)
Recommended Name: Basal body-orientation factor 1  
Size: 529 amino acids; 61987 Da
Sequence caution: Sequence=AAI04980.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAI04982.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB15572.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BC044808; Type=Frameshift;
Positions=428, 448;
Secondary accessions: Q0P604 Q9H5P8

Explore the universe of human proteins at neXtProt for CCDC176: NX_Q8ND07

Explore proteomics data for CCDC176 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CCDC176 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_079333.2  
    ENSEMBL proteins: 
     ENSP00000451659   ENSP00000377577   ENSP00000451020   ENSP00000451097  

    CCDC176 Human Recombinant Protein Products:

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    Search eBioscience for ELISAs for CCDC176 


    (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: Q8ND07

    UniProtKB/Swiss-Prot: BBOF1_HUMAN, Q8ND07
    Similarity: Belongs to the BBOF1 family


    (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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BBOF1_HUMAN, Q8ND07
    Function: Basal body protein required in multiciliate cells to align and maintain cilia orientation in response to
    flow. May act by mediating a maturation step that stabilizes and aligns cilia orientation. Not required to
    respond to planar cell polarity (PCP) or flow-based orientation cues (By similarity)

    Animal Models:

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CCDC176
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    miRTarBase miRNAs that target CCDC176:
    hsa-mir-192-5p (MIRT026197), hsa-mir-215-5p (MIRT024529)

    Block miRNA regulation of human, mouse, rat CCDC176 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate CCDC176
    SwitchGear 3'UTR luciferase reporter plasmidCCDC176 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CCDC176

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    Browse Sino Biological Human cDNA Clones
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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CCDC176

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC176


    (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
    BBOF1_HUMAN, Q8ND07: Cytoplasm, cytoskeleton, cilium basal body (By similarity). Note=Localizes to a polar
    structure adjacent to the basal body (By similarity)

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0036064ciliary basal body ISS--

    Find genes that share ontologies with CCDC176           About GenesLikeMe


    (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 CCDC176
    Interactions:

        Search GeneGlobe Interaction Network for CCDC176

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0044458motile cilium assembly ISS--

    Find genes that share ontologies with CCDC176           About GenesLikeMe



    (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 CCDC176 (BBOF1)



    (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 CCDC176 gene: 
    NM_025057.2  

    Unigene Cluster for CCDC176:

    Coiled-coil domain containing 176
    Hs.644621  [show with all ESTs]
    Unigene Representative Sequence: NM_025057
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000464394 ENST00000394009(uc010tup.2) ENST00000489323 ENST00000463558
    ENST00000477986 ENST00000492247 ENST00000553773
    miRNA
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    Search for qRT-PCR Assays for microRNAs that regulate CCDC176
    SwitchGear 3'UTR luciferase reporter plasmidCCDC176 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CCDC176
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    GenScript Custom all cDNA clones Services for CCDC176
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CCDC176
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat CCDC176
    Primer
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    OriGene qPCR primer pairs and template standards for CCDC176
    OriGene qSTAR qPCR primer pairs in human, mouse for CCDC176
    Search Pre-validated RT2 qPCR Primer Assays in human, mouse, rat CCDC176
      QuantiTect SYBR Green Assays in human, mouse, rat CCDC176
      QuantiFast Probe-based Assays in human, mouse, rat CCDC176

    Additional mRNA sequence: 

    AK026842.1 AK123178.1 AL834487.1 BC044808.1 BC104979.1 BC104981.1 

    14 DOTS entries:

    DT.307532  DT.97836729  DT.99930821  DT.437790  DT.415528  DT.101969269  DT.70103907  DT.75168509 
    DT.95346619  DT.97795480  DT.120749896  DT.91811355  DT.95206476  DT.97799801 

    Selected AceView cDNA sequences (see all 53):

    BM980918 AK026842 AL834487 BU622360 AI765503 BE220437 BF111227 AI304946 
    NM_025057 AK097531 BI821464 AA460298 AA682345 AA970360 BU570698 AW028590 
    BQ187738 BM681886 BI457605 BG547614 BF904214 BI559343 AA621785 BF196844 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for CCDC176    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6
    SP1:                                          
    SP2:              -                           


    ECgene alternative splicing isoforms for CCDC176

    (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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    CCDC176 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CCDC176 Expression
    About this image


    CCDC176 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Adipose (Muscoskeletal System)
             Mesenchymal Stem Cells Subcutaneous White Adipose
     
     Blood (Hematopoietic System)
             Erythroblasts Hematopoietic Bone Marrow
     
     Mesenchymal Stem Cells
             Mesenchymal Stem Cells Subcutaneous White Adipose
    CCDC176 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CCDC176 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.644621
        Custom PCR Arrays for CCDC176
    Primer
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    OriGene qPCR primer pairs and template standards for CCDC176
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC176

    (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 CCDC176 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc1761 , 5 RIKEN cDNA 2900006K08 gene5
    coiled-coil domain containing 1761
    84.29(n)1
    79.49(a)1
      12 (39.20 cM)5
    728731  NM_028377.31  NP_082653.21 
     844090715 
    chicken
    (Gallus gallus)
    Aves C5H14ORF451 chromosome 5 open reading frame, human C14orf45 63.42(n)
    53.53(a)
      423344  XM_421259.4  XP_421259.4 
    lizard
    (Anolis carolinensis)
    Reptilia CCDC1766
    coiled-coil domain containing 176
    57(a)
    1 ↔ 1
    1(23743109-23756162)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ccdc1761 coiled-coil domain containing 176 62.1(n)
    54.4(a)
      100493007  XM_002938595.2  XP_002938641.2 
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-163l21.101 si:ch211-163l21.10 50.1(n)
    39.67(a)
      565282  NM_001126419.1  NP_001119891.1 


    ENSEMBL Gene Tree for CCDC176 (if available)
    TreeFam Gene Tree for CCDC176 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CCDC176 gene

    Find genes that share paralogs with CCDC176           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for CCDC176
    PGOHUM00000258196


    (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 CCDC176 (see all 1085)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs339597301,2
    C--54653861(+) AGTAC-/TTTTTT 1 -- int10--------
    rs601650051,2
    C--54660766(+) TTTTT-/T/TT  
            
    GCAGA
    1 -- int11NA 2
    rs1997118001,2
    C--54662325(+) ACACA-/CAC   
       
    /CACA
    AAAGT
    2 -- int1 cds10--------
    rs2018982071,2
    C--54664288(+) TATAT-/AGAG  
            
    ATATA
    1 -- int10--------
    rs2002041121,2
    --54664292(+) TATAT-/AGATATA 1 -- int10--------
    rs2009160021,2
    C--54664292(+) ATATAG/TATATA 1 -- int10--------
    rs2017531391,2
    C--54664294(+) ATATAG/TATAGA 1 -- int10--------
    rs350783211,2
    C,F--54672708(+) TTTTTT/-GTATT 1 -- int12Minor allele frequency- -:0.50NA CSA 4
    rs105740901,2
    C--54675983(+) cacag-/ACacaca 1 -- int10--------
    rs71402231,2
    C,F--54695460(+) CTGGGA/GAAAAA 1 -- int1 trp33Minor allele frequency- G:0.40NA CSA 10

    HapMap Linkage Disequilibrium report for CCDC176 (74486056 - 74549566 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CCDC176: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CCDC176
    DNA2.0 Custom Variant and Variant Library Synthesis for CCDC176

    (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 CCDC176 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with CCDC176)
        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. 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)
    4. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (Sci Signal 2012)
    5. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)
    6. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    7. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1 Olsen J.V....Mann M. (Cell 2006)
    8. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)2 Heilig R.... Weissenbach J. (Nature 2003)
    9. 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: 80127 HGNC: 19855 AceView: C14orf45 Ensembl:ENSG00000119636 euGenes: HUgn80127
    ECgene: CCDC176 H-InvDB: CCDC176

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for CCDC176 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 CCDC176 gene:
    Search GeneIP for patents involving CCDC176

    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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